0174101.tid pageTitle Glossary _______________________________________________________ Adenoma-benign tumor made up of glandular elements Antioxidant-lessens the effects of poisons or other substances that are harmful to humans and animals Asymptomatic-without symptoms Anemia-a condition where the blood is lacking in red blood cells and possibly other essential parts Barium-an alkaline element found in the earth Biopsy-microscopic examination of a small piece of tissue from the body; the only sure way to know whether a growth is a cancer Benign-noncancerous Clinical trials-using humans in medical tests Colonoscope-a small, flexible, lighted, long, fiberoptic instrument used to examine the entire colon Digestive tract-area of the body which digests foods Fiberoptic-technique for transmitting light and optical images along flexible coated glass or plastic fibers Lymph-a transparent, slightly yellow, alkaline liquid found in the lymphatic vessels and derived from fluids in the body's tissues Malignant-cancerous Metastasize-spread of a disease from one organ or part of the body to another not directly connected with it National Institutes of Health-part of the U.S. Department of Health and Human Services Node-a small mass of tissue in the form of a swelling, knot or protuberance, either normal or diseased Outpatient-not a patient in a hospital Precancerous-a physical condition that tends eventually to become malignant Preclinical-before a medicine is used in humans Polyp-a growth sometimes like a wart) within the body Radical surgery-surgery designed to remove all areas of an extensive disease as well as the nearby lymph nodes Tumors-swelling, new growth of tissue Scans-mechanical examinations of various parts of the body Sigmoidoscopy-an examination of the sigmoid portion of the colon Stool-feces Ulcerative colitis-chronic, recurring ulceration of the colon Ulcerative-a localized "sore" on the surface of a tissue or organ _______________________________________________________ Glossary 0174201.tid pageTitle A glossary of important cholesterol terms _______________________________________________________ When reading about cholesterol and nutrition, you may run across some words that are important to understand if you are trying to fully grasp the meaning of the articles you are studying. This glossary may be used to help clarify the meaning and use of important words used in material on the subject of cholesterol. ATHEROSCLEROSIS: Essentially a type of hardening of the arteries; it's a condition in which the walls of the arteries become less flexible because of the buildup of cholesterol, fat and other blood components within them. Arteries to the heart may narrow due to atherosclerosis and become incapable of carrying enough oxygen-rich blood to the muscles of the heart. CARBOHYDRATE: One of the three types of nutrients (along with fat and protein) that provide energy to the body. There are four calories in each gram of carbohydrate, an essential ingredient for normal body function. There are two basic types of carbohydrates: "simple" carbohydrates (sugars), and "complex" carbohydrate (starches and fiber). Complex carbohydrate: Starch and fiber, usually found in plants or vegetables. When complex carbohydrates are substituted for saturated fats in the diet, the saturated fat reduction lowers blood cholesterol. High amounts of starch may be found in breads, pasta, rice, cereals, dried beans and peas, corn and lima beans. Fiber: The body is unable to digest or absorb this type of complex carbohydrate, so high-fiber foods are low in calories. Large amounts of fiber are found in whole-grain cereals, oat and barley brans, some fruits such as apples and oranges, as well as dried beans. CHOLESTEROL: A soft, waxy substance that is important for normal body function and is produced in sufficient quantity by the body. It is involved in the production of certain hormones, bile acid and Vitamin D. It may be found in tissues in all parts of the body, including the nervous system, muscle, skin, heart, intestines and liver. Blood Cholesterol: May be from both cholesterol absorbed from food and cholesterol produced in the liver, it is distributed to tissues throughout the body by the blood. A high level of blood cholesterol precedes the development of atherosclerosis and coronary artery disease. Dietary Cholesterol: The amounts of cholesterol contained in the foods you consume. It is present only in foods derived from animals, and is not contained in foods that are of plant origin. CORONARY ARTERY DISEASE: A disease of the arteries of the heart. The arteries become narrower due to the effects of arteriosclerosis, and fail to provide sufficient amounts of oxygen and nutrient-carrying blood to the tissues (muscles) of the heart, leading to chest pain, heart attack and death. FAT: One of the three types of nutrients, fat provides nine calories per gram, more than twice the amount contained in an equal quantity of either carbohydrates or proteins. Fats help in the absorption of certain vitamins and, in small amounts, are necessary for normal body function. Total Fat: The total of all types of fats (saturated, monounsaturated and polyunsaturated) contained in food. In general, a mixture of all three is found in most foods. Saturated Fat: This type of fat is found in the largest amounts in foods derived from animals, including meat, poultry, and dairy products made from milk, such as cream, cheese, ice cream and butter. However, some vegetable oils, including coconut, palm kernel and other palm oils, also contain large amounts of saturated fats. Blood cholesterol increases more from saturated fats than any other food element in the diet. Unsaturated Fat: This type of fat remains in a liquid state at refrigerator temperatures. Both monounsaturated and polyunsaturated fats are in this classification. Monounsaturated Fat: This is a type of fat that is slightly unsaturated and is contained in foods made from plants, including olive oil and canola (rapeseed oil). When these types of fats are substituted for saturated fats in the diet, blood cholesterol is reduced. Polyunsaturated Fat: Considered highly unsaturated, this type of fat is found in oils made from safflower, sunflower, corn and soybean. It also acts to reduce the amount of blood cholesterol when substituted for saturated fats in the diet. GRAM: A unit of weight. One ounce equals about 28 grams (g). Most diets measure the various contents of food products using this unit of weight. HYDROGENATION: A chemical process that changes liquid vegetable oils that are made of unsaturated fats, into a solid form that contains saturated fats. While this process makes it possible to keep these products on supermarket shelves for longer periods of time, it also increases the content of undesirable saturated fats. LIPIDS: These are fatty substances that are present in the blood and body issues, and includes cholesterol and triglycerides. LIPOPROTEINS: Used to describe the protein-coated "packages" or particles that carry fats (such as cholesterol) through the blood. Lipoproteins are classified according to their density. High Density Lipoproteins (HDL): This form of lipoprotein contains a small amount of cholesterol and carries cholesterol away from the body cells and tissues to the liver for excretion from the body. Thus, the higher the level of HDL the better, and so this substance is known as the "good" cholesterol. Low Density Lipoprotein (LDL): These are the lipoproteins in the blood that carry the largest amounts of cholesterol. Because LDL is responsible for depositing cholesterol in the walls of arteries, high levels are associated with an increased risk of coronary heart disease. This is the substance referred to as "bad" cholesterol. MILLIGRAM: A unit of weight equal to one-thousandth of a gram. One ounce equals 28,350 milligrams (mg). MILLIGRAMS/DECILITER (mg/dl): This unit is used to express the concentration of a given weight of a substance dissolved in a quantity of liquid. The amount of cholesterol in the blood is measured in this manner, indicating the weight of cholesterol (mg) in a deciliter of blood. A deciliter is about one-tenth of a quart. PROTEIN: One of the three types of nutrients. One gram or protein supplies four calories, less than half the amount contained in one gram of fat. Protein is an essential building block of many parts of the body, including muscle, bone, skin and blood. RISK FACTOR: A habit, trait or condition in a person that is associated with an increased chance of developing a particular disease. These factors are established by studying the results of many clinical investigations that develop the statistics needed to discover the relationships. TRIGLYCERIDES: A type of lipid (fat-like substance) carried in the bloodstream to the tissues. Most of the body's fat tissue is in this form, stored for use as energy. Triglycerides are obtained from the fat in the diet. VASCULAR DISEASE: A disease or ailment of the blood vessels, frequently caused by atherosclerosis. Vascular disease may be seen in arteries to the brain, heart and in the leg. _______________________________________________________ A glossary of important cholesterol terms 0174301.tid pageTitle Glossary _______________________________________________________ Adult-onset diabetes--Former name for non-insulin-dependent diabetes Angiopathy--A disease of the blood vessels Atherosclerosis--A condition in which fat and clotted blood builds up in the large-and medium-sized arteries Beta cells--The cells of the pancreas that produce insulin Blood-glucose monitoring--A method of checking how much blood sugar (glucose) is in the blood Carbohydrate--One of the three main classes of food and a source of energy Cholesterol--A fatlike substance that is found in food and is made by the body Circulation--The flow of blood within the body Diabetes mellitus--A disease that occurs when the body is not able to use sugar for energy as it should Fats--One of the three main classes of foods; can be either saturated, monunsaturated or polyunsaturated Gestational diabetes mellitus--A type of diabetic mellitus that occurs when a woman is pregnant Glucagon--A hormone that raises blood-sugar levels, sometimes used to treat insulin reactions Glucose--A simple sugar found in the blood, serving as the body's main source of energy Hormone--A chemical within the body that acts as a messenger, telling cells what to do Hyperglycemia-- High blood-sugar levels Hypoglycemia--Low blood-sugar levels Insulin--The hormone the body uses to regulate blood sugar and allow it into the cells Insulin-dependent diabetes mellitus--Chronic condition where the pancreas does not make enough insulin Insulin reaction--Effects of too much insulin, causing very low blood-sugar levels lslets of Langerhans--The groups of cells within the pancreas that contain the beta cells that make insulin Ketoacidosis--The buildup of ketones in the blood due to poorly controlled diabetes; can lead to coma and death Lancet--Sharp instrument used for pricking skin Maturity-onset diabetes--Former name for non-insulin-dependent diabetes Nephropathy--Disease or damage of the kidneys Neuropathy--Disease or damage of the nervous system Non-insulin-dependent diabetes mellitus--A form of diabetes where the body is resistant to insulin Oral hypoglycemic agents--Medications used to control blood-sugar levels Pancreas--The organ that makes insulin; it is found behind and under the stomach Pre-eclampsia--A condition during pregnancy marked by high blood pressure and water retention Protein--One of the three main classes of foods Retina--The inside layer of the back of the eyeball that senses light Retinopathy--Disease or damage to the retina Sugar--A type of simple carbohydrate that tastes sweet Sulfonylureas--Oral hypoglycemic agents Type I diabetes--Insulin-dependent diabetes Type 11 diabetes--Non-insulin-dependent diabetes Urine testing--Checking urine for glucose and ketones as a way of monitoring blood-glucose levels Vitrectomy--Removal of the clear jellylike fluid from the eye after it has become clouded due to bleeding _______________________________________________________ Glossaryby B 0174401.tid pageTitle RESOURCES FOR THE ELDERLY _______________________________________________________ ADRDA: Alzheimer's Disease & Related Disorders Association, 1-800-621-0379 (in Illinois, 1-800-572-6037). AAFP: American Academy of Family Practice has a "Help Yourself to Health" series. Contact Dr. Herb Young, AAFP, 1740 W. 92nd St., Kansas City, Mo. 64114, or call 1-800-821-2512. AARP: American Association of Retired Persons, 1909 K St., N.W., Washington, D.C. Membership costs $5 a year. This association has many benefits for people over age 50 (retired or not), including non-profit pharmacy service, free publications on health, housing, consumer fights, and more. American Association of Homes for the Aging 1129 20th St., N.W., Suite 400, Washington, D.C. 20036. A free packet of care-giving brochures is available by sending a self-addressed, legal-size, stamped envelope (39 cents) to the address above. ACS: American Cancer Society, 90 Park Ave., New York, N.Y. 10016., ADA: American Diabetes Association Inc., 600 5th Ave. New York, N.Y. 10020i American Foundation for the Blind Inc., 15 W. 16th St., New York, N.Y. 10011. ARA: American Heart Association, 7320 Greenville, Dallas, Texas 75231. American Lung Association, 1740 Broadway, New York, N.Y. 10019. American Podiatric Medical Association, Chevy Chase Circle, Western Ave., Washington, D.C. 20015, or call (202) 537-4900. American Red Cross, 18th & E St., N.W., Washington, D.C. 20096. Arthritis Foundation, 1413 Spring St., N.W., Atlanta, Ga. 30309. Association for Hearing and Speech Action 814 Thayer Ave., Silver Spring, Md. 20910. (Same address for the National Association of the Deaf.) CAPS: Children of Aging Parents, 2761 Trenton Rd., Levittown, Penn. 19056. A list of support groups (especially for Alzheimer's disease), a long-distance directory of case-management workers, and care-giving booklets are available from the address above. Lifeline Program: 1-800-451-0525 (in Massachusetts, 1-800-441-4014). This is a personal emergency response system provided in communities. Write to Lifeline Systems Inc., One Arsenal Marketplace, Watertown, Mass., or call (617) 923-4141. National Association of Area Agencies on Aging, 600 Maryland Ave., S.W., Suite 208, Washington, D.C. 20024. This organization can give information about local county aging services that plan, coordinate and advocate programs and services for county residents over the age of 60: senior activity centers, meals on wheels, transportation, outreach programs, health screening centers, foster grandparents, volunteer opportunities, home services alternatives to nursing homes, senior employment programs, chore services, legal services, senior companion programs, etc. These programs are funded by the Older Americans Act, which is a federal law providing grants to states for these community services. National Association for Home Care, 519 C St., Stanton Park, Washington, D.C. 20002. NAHC is a national clearinghouse of information regarding home-care agencies. National Clearinghouse on Aging, SCAN Social Gerontology Resource Center, P.O. Box 231, Silver Spring, Md. 20907. Provides lists of publications on nit topics, such as family support groups, self-help and day care for the elderly. National Council on Aging Inc.: A national directory of care-giver support groups ($6.50) and guides on topics such as avoiding home accidents, and long-distance caregiving ($5.50 each) are available by writing to NCOA Publications, P.O. Box 7227, Ben Franklin Station, Washington, D.C. 20044. National Hospice Organization, 1901 N. Fort Myer Dr., Suite 307, Arlington, Va. 22209, or call (703) 243-5900. National Institute on Aging Information Center: Educational brochures on a variety of topics can be obtained by writing to 2209 Distribution Circle, Silver Springs, Md. 20910, or calling (301) 495-3455. National Library Service for the Blind & Physically Handicapped, Library of Congress, 1291 Taylor St., N.W., Washington, D.C. 20542. Telephone number is (202) 287-5100. National Parkinson's Foundation. 1-800-327-4545 (in Florida, call 1-800-433-7022; in Miami, call 305-547-6666). Parkinson's Disease Foundation, 640 W. 168th St., New York, N.Y. 10032. National Patient Education Library, 2900 Baltimore Medical Building, Suite 400, Kansas City, Mo. 64108. Telephone number is 1-800-821-6671. National Rehabilitation Information Center, 4407 8th St., N.E., Washington, D.C. 20017. Provides information and fact sheets on research, products and resources related to the care of patients with physical limitations. Telephone number is 1-800-34-NARIC, or (202) 653-5826. National Society for the Prevention of Blindness Inc., 70 Madison Ave., New York, N.Y. 10016. Telephone number is (212) 684-3505. Tele-Consumer Hotline: Gives information about telephone services by providing fact sheets on problems and a resource directory of devices for people with impaired hearing, speech or vision. Telephone number is 1-800-332-1124. Other potential resources: United Way Agencies, hospice organizations within a community, local hospitals (which might be able to provide weekend or respite care), religious organizations within a community, university gerontologic programs or geriatric education centers. _______________________________________________________ RESOURCES FOR THE ELDERLY 0000201.tab Abbreviation Meaning Derivation and Notes _________________________________________________________ aa of each ana (Greek) ac before meals ante cibum (Latin) AD right ear auris dextra (Latin) AL left ear auris laeva (Latin) AM morning ante meridiem (Latin) AS left ear auris sinistra (Latin) au both ears auris (Latin) bid twice a day bis in die (Latin) C 100 -- c [*] with cum (Latin) cap capsule -- cc or cm^3 cubic centimeter 30 cc equals one ounce disp dispense -- dtd# give this number dentur tales doses (Latin) ea each -- ext for external use -- gtt drops guttae (Latin) gt drop gutta (Latin) h hour hora (Latin) hs at bedtime hora somni (Latin) M ft make misce fiat (Latin) mitt# give this number mitte (Latin) ml milliliter 30 ml equals one ounce (1 ml=1 cc) O pint octarius (Latin) OD right eye oculus dexter (Latin) OL left eye oculus laevus (Latin) OS left eye oculus sinister (Latin) OU each eye oculus uterque (Latin) pc after meals post cibum (Latin) PM evening post meridiem (Latin) po by mouth per os (Latin) prn as needed pro re nata (Latin) q [*] every quaqua (Latin) qd once a day; quaqua die (Latin) every day qid four times a day quater in die (Latin) qod every other day -- s [*] without sine (Latin) sig label as follows signa (Latin) sl under the tongue sub lingua (Latin) SOB shortness of breath -- sol solution -- ss half unit semis (Latin) stat at once; first dose statim (Latin) susp suspension -- tab tablet -- tid three times a day ter in die (Latin) top apply topically -- ung or ungt ointment unguentum (Latin) UT under the tongue -- ut dict or UD as directed ut dictum (Latin) x times -- _________________________________________________________ * These abbreviations are written with a line over the letter. th a line over the letter. line over the letter. over the letter. over the letter. Common Abbreviations and Symbols Used in Writing ...sssssssssslow 0000202.tab ERROR Definitions Used to Describe Storage Temperatures ______________________________________________________________ Excessive Cold Any temperature under 36 degrees_F (2 degrees_C) Refrigerated Any cold place where the temperature is between 36 and 46 degrees_F (2-8 degrees_C) Cool Any temperature between 46 and 59 degrees_F (8-15 degrees_C) Room temperature Temperature usually between 59 and 86 degrees_F (15-30 degrees_C) Excessive heat Any temperature above 104 degrees_F (40 degrees_C) ______________________________________________________________ 0000404.tab _____________________________________________________________ Side Effect Management _____________________________________________________________ Constipation Increase the amount of fiber in your diet; drink plenty of fluids [*]; exercise [*] Decreased sweating Avoid working or exercising in the sun or under warm conditions Diarrhea Drink lots of water to replace lost fluids; if diarrhea lasts longer than three days, call your doctor Dizziness Avoid operating machinery or driving a car Drowsiness Avoid operating machinery or driving a car Dry mouth Suck on candy or ice chips, or chew sugarless gum Dry nose and throat Use a humidifier or vaporizer Fluid retention (mild) Avoid adding salt to foods; keep legs raised, if possible Headache Remain quiet; take aspirin [*] or acetaminophen [*] Insomnia Take the last dose of the drug earlier in the day [*]; drink a glass of warm milk at bedtime; ask your doctor about an exercise program Itching Take frequent baths or showers, or use wet soaks Nasal congestion If necessary, use nose drops [*] Palpitations (mild) Rest often; avoid tension; do not drink coffee, tea, or cola; stop smoking Upset stomach Take the drug with milk or food [*] _____________________________________________________________ * Consult your doctor first. Common Minor Side Effects Anatomy 00001.txt CREATIVE MULTIMEDIA CORPORATION USER WARRANTY Creative Multimedia Corporation (CMC) warrants that CMC's software and the media on which it is recorded will work substantially in accordance with CMC's operating instructions, when used on equipment meeting CMC's specifications. CMC gives this warranty to the first consumer owner only. If you have problems within the first 90 days after you buy it, return the software to us, postage prepaid, with your purchase receipt, to: Warranty Department Creative Multimedia Corporation 514 N.W. 11th Ave., Suite 203 Portland, Oregon 97209 and if we find it to be defective, we will replace it with one that works on equipment meeting our specifications. YOU MUST RETURN YOUR REGISTRATION CARD TO BE ELIGIBLE FOR THIS REMEDY. If you lose your card, let us know; we'll send you another. 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CREATIVE MULTIMEDIA SOFTWARE LICENSEO TH 00003.txt pageTitle The Family Doctor, 3rd Edition Credits and Copyright Credits and Copyright _________________________ The Family Doctor Team: Author & Editor: Allan H. Bruckheim, M.D., FAAFP Development: David Bleckmann, Collin Bremner, Gene Ragan Production: Mark Johnson, John Williamson, Theresa Inman, Linda Wolffe, Kelly Clarke Quality Assurance: Janise McMenamin Executive Producer: Chen-Chi Yuan Technical Writer: Steve Munger Publisher: Judith D. Grillo Executive Publisher: Eric Pozzo Copyright Notice: The video introduction in The Family Doctor was written and recorded by Dr. Allan H. Bruckheim who also serves as editor, author and advisor of the CD-ROM title. The Questions and Answers are based upon "The Family Doctor", a nationally syndicated copyrighted column by Tribune Media Services, Inc. Portions Copyright (c) 1991-1993, 1994 by Allan H. Bruckheim, M.D. and Tribune Media Services, Inc. All rights reserved. The 900+ files of information on rare diseases used with permission from the National Organization for Rare Disorders, Inc., 100 Route 37, P.O. Box 8923, New Fairfield, CT. 06812-1783. Copyright (c) 1984-1993, 1994 by the National Organization for Rare Disorders, Inc. The New Prescription Drug Reference Guide by the Editors of Consumer Guide (R) reprinted with permission from Publications International, Ltd. Copyright (c) 1993 by Publications International, Ltd. All rights reserved. Basic First Aid animations developed by Dash Digital, 1631 SW Columbia, Portland, OR 97201. Copyright (c) 1993, 1994 by Creative Multimedia Corporation. The Resources Section includes Associations & Foundations, Educational Resources and Support Groups and Health Update Booklets. These Resources were written, compiled and edited by Dr. Allan H. Bruckheim. Copyright (c) 1991-93, 1994 by Allan H. Bruckheim, M.D. The Patient Education Illustrations reprinted with permission from Resident and Staff Physician. Copyright (c) 1991-93, 1994 by Romaine Pierson Publishers, Inc. All rights reserved. The Anatomy of the Human Body illustrations were designed and developed by Collin Bremner and Bill Fiesterman. Audio recording courtesy of Alyssa Bremner. Copyright (c) 1992-93, 1994 by Creative Multimedia Corporation. Video licensed courtesy of "The Living Body Series", from the Altschul Group Corporation. Copyright (c) 1993, 1994 by Creative Multimedia Corporation. Audio for Basic First Aid, the Introduction to the Anatomy of the Human Body and the video of the Anatomy of the Human Body was recorded by Richard Moore, Northwest VideoWorks, Inc. 1631 SW Columbia, Portland, OR 97201. Interface Design developed by Collin Bremner and Andrew Davies. Copyright (c) 1992-93, 1994 Creative Multimedia Corporation. Copyright (c) 1991-93, 1994 Creative Multimedia Corporation. QuickTime for Windows(TM), Copyright (c) 1992, Apple Computer, Inc. ToolBook(R) 1.53, Copyright 1992, Asymetrix(R) Corporation. A portion of this product was developed using MacroMind Director, version 3.1, copyright (c) 1992, Macromedia(TM), Inc. Other words, images and sounds copyright of respective owners. Windows is a registered trademark of MicroSoft Corporation. All rights reserved. Made in U.S.A.....tion. All rights reserved. Made in U.S.A.Made in U.S.A... The Family Doctor, 3rd Edition Credits and Copyright 4actViewName, actInName, actOutName, actAudName objectFromPoint( x"*" "view" navIn navOut Sound xNULL down }location, isShift, isCtrl False TRUE --Save incase we need resurect --Play associated audio on 4wavPath, -- waveFile -- tbkMCIchk("play" && !,"") -- ~(" ", fname & ". -- io on 4idxPath, aDlgView, aDlgCategory, cdRomDrive ~(" ", & ".wav" --Construct Display dialog box the PeelAway Man displayDialog( 4 --hour glass comes up (so let's force key, ontrol isControl 4lastDir menus "Print Article" "Character" "Copy" "SelectAll" dependentMenus() 4midVisU, maxVisU = "frsb" = "mrsb" Check state radio buttons change needed. 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FALSE = "ngb" -- "nervous" -- Enter rightButtonDown keydown buttonUp keyup enterBackground mouseEnter enterPage mouseEnter navIn navOut Sound actViewName actInName actOutName actAudName buttonUp actInName actOutName isCtrl isShift location rightButtonDown Sound active,checked tbkMCIchk tbkMCIchk displayDialog fname waveFile idxPath aDlgView aDlgCategory cdRomDrive wavPath actViewName actAudName keydown previous actOutName isControl isShift keyup actInName enterBackground Print Article Character SelectAll dependentMenus lastDir enterPage nervous midVisN maxVisN 0002700.tid pageTitle Cholesterol A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Cholesterol Good and Bad Cholesterol Cholesterol is a white, waxy substance your body needs to form cell membranes and many hormones. Enough cholesterol is produced by the body to meet all its needs. Eating foods rich in cholesterol and saturated fat can cause high levels of cholesterol to accumulate in the blood. Cholesterol is transported in the blood by lipoproteins. Most of the cholesterol is carried by low-density lipoprotein (LDL). This is sometimes called the "bad" cholesterol because together with fat and other particles, it can cause a thick coating of plaque to form on the walls of the arteries. This condition, known as atherosclerosis, is a major health risk. High-density lipoprotein (HDL) is often called the "good" cholesterol because it transports the cholesterol back to the liver, where it is processed for removal through the bile. High and Low Levels Cholesterol is measured by the number of milligrams (mg) of cholesterol per deciliter (dl) of blood. The numbers will fall into one of three ranges, as designated by the U.S. Department of Health and Human Services and listed on the front of this chart. If your total blood cholesterol level is high, your doctor will probably want to obtain a measurement of your LDL levels. LDL levels greater than 130 mg/dl are considered a health risk. Cholesterol testing involves taking a sample of blood either from your finger or arm and should be done by a health professional in a hygienic medical setting. The sample should then be sent to a competent and experienced laboratory for analysis. How to Lower Cholesterol If you have high blood cholesterol, your doctor will advise you to change your diet so that you eat fewer foods that are high in cholesterol and saturated fats. Cholesterol is found only in animal products. Animal products are also the primary source of saturated fats, although a few vegetable oils--coconut, palm, and palm kernel--do contain saturated fats. It is generally recommended that you consume no more than 300 mg of cholesterol each day and that no more than 30% of your total calories come from fats, with no more than one-third of that (10% of total calories) coming from saturated fats. If dietary changes do not lower cholesterol sufficiently, your doctor may prescribe medication. Maintaining a desirable weight can also help lower LDL and exercise may help raise the level of HDL, the "good" cholesterol. Cholesterol and Saturated Fat Levels of Some Common Foods ____________________________________________________ Cholesterol Saturated (mg) Fats (g) ____________________________________________________ (Meat, fish, and poultry are 3.5 oz portions) Lean T-Bone Steak (broiled) 80 4.2 Lean Ground Beef (broiled) 87 7.2 Fresh Spareribs (braised) 121 11.8 Roasted Chicken 75 1.1 (light meat, no skin) Roasted Turkey 86 0.4 (light meat, no skin) Swordfish (dry heat) 50 1.4 Shrimp (moist heat) 195 0.3 Lobster 72 0.1 8 oz whole milk 33 5.1 8 oz skim milk 4 0.3 1 oz cheddar cheese 30 6.0 1 whole chicken egg 274 1.7 1 slice whole wheat bread 0 0.4 ____________________________________________________ _________________________ Cholesterol 0002800.tid pageTitle Colonoscopy A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Colonoscopy A colonoscope is a slender and flexible tube that can be used to examine the entire colon. The procedure, known as a colonoscopy, is not a routine examination, but may be recommended by your doctor to determine a source of bleeding or to diagnose polyps, cancer, and other conditions. Colonoscopy is particularly useful in diagnosing disease that is beyond the reach of a proctosigmoidoscope. A proctosigmoidoscope is shorter and more rigid and is used to examine the rectum and lower colon only. It can help find colon and rectal cancers early, and it is recommended that men and women over the age of 50 have a "procto" every one to five years, depending on the individual and the test results. If the results are not normal, your physician may recommend more extensive tests, including colonoscopy. Why is Colonoscopy Useful? The development of an instrument that can be used to view the entire colon has greatly improved the diagnosis and treatment of polyps, small projecting growths. Polyps, even tiny ones, can be located much more easily than with other methods. A wire loop can be passed through the scope and hooked around the base of a polyp. A current is applied and polyp is nipped off. Colonoscopy is also useful in determining the cause of bleeding, either bleeding from the rectum or hidden (also known as "occult") bleeding that has been detected by a stool blood slide test. The bleeding can be stopped with an electrical current, a heat probe, or a laser passed through the colonoscope. If other tests, such as the "procto" and stool blood slide test (mentioned above) or the barium enema, indicate problems may be present, colonoscopy may be used to look for other signs of bowel disease and possible cancerous growths. If an unusual growth is noted, the physician can take a sample of cells for later examination under a microscope, a procedure known as a biopsy. If cancer is diagnosed, colonoscopy can be used before surgery to determine the extent of the disease, and as a follow-up procedure to see if the growths in the colon have been completely removed and later, if they return. The Examination Your doctor may advise you to follow a liquid diet the day before the test and to not consume anything after midnight. Your doctor may also want you to have an enema the morning of the procedure. This will cleanse the bowel and permit better viewing of the walls of the colon. You may receive a mild sedative to relax you prior to the examination. For the examination, you lie on your left side, with a sheet draped over your lower body. Your doctor will gently insert the scope through the anus and rectum and into the colon. You may feel cramps, but these can be relieved by your doctor manipulating the scope and, if needed, by additional medication. Colonoscopy 0003100.tid pageTitle Cataracts A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Cataracts A cataract is a clouding of the lens of the eye which blocks light from entering the eyeball, causing blurred vision. You could compare it to a camera--when something blocks the light from the lens, you get a blurred picture. Cataracts are most common in elderly people although they can occur at any age. The cause is unknown and there are no drugs to treat the condition. When the cataract reaches the point that it interferes with normal activities, it should be removed surgically if the patient is in generally good health. The operation is not serious and the success rate is very high. There are several accepted methods of removal: - Extraction (most common)--The eyeball is opened and the diseased lens is lifted out with a freezing probe. - Needling--This method is usually used in children. The lens is opened and fluid from the eyeball enters the lens and dissolves the cataract. - Phaco-emulsification--A high-speed instrument is inserted into the lens through a small incision that breaks up the cataract and draws it out. Use of the smaller incision in this method makes healing time faster and hospital stay considerably shorter. This method has been mistakenly referred to by the mass media as the "Laser Method." In reality lasers are not used, but rather an ultrasonic beam. It is used in younger patients. After the operation, normal vision is restored with the use of specially ground eyeglasses, contact lenses, or occasionally implanted lenses in older patients who cannot handle a contact lens. Cataracts 0003400.tid pageTitle Facts About Fat A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Facts About Fat If you have a weight problem--controlled or uncontrolled--you are not alone. There are about 15 million Americans who are at least 20% overweight, and that's borderline obesity. The more your weight goes up, the more problems you'll encounter in maintaining health and achieving longevity. "The longer the waistline, the shorter the lifeline" is an all too familiar adage. But sadly, it doesn't really sink in for many people until the insidious growth of girth creates a crisis. This chart shows what happens inside your body as you progress from being slightly overweight to being obese. We're not stressing the cosmetic disabilities caused by excess weight--or the psychological problems. We are presenting the gut problem. Shortness of breath may be a first sign of pulmonary distress and heart strain caused by overweight. The chart shows you how and why obesity increases the heart's workload and contributes to premature death: fat enlarges the capillary bed (tiny connective blood vessels in an area or organ of your body) which increases the amount of tissue to be nourished by the blood and through which the blood must be pumped by your heart. In addition, the fat accumulated has to go someplace. You can see what's happening on the outside of you--now let's take a look at the inside. Fat infiltrates the liver and other organs. It's a squeeze process, an invasion. Fat compresses the heart, decreases the blood supply to the intestines, etc. (See figures above.) Some very fat people can't sit, because if they do, there's no space for their lungs to operate in, as the fat invades the chest. These people have to stand up or lie down all the time. They have disabled themselves. Along with all this, extra heavy people--and even moderately overweight persons--are putting an extra burden on their backs and legs (the weight bearing joints), which causes or increases arthritic problems. Complications following surgery occur more frequently in fat people vs. thin. Wounds don't heal as well or as fast. And again a breathing problem--heavyweights can't take anesthesia as well as people of normal weight. The final point to remember is that weight will always be with you--as long as you're alive. To control your weight, you have to control the number of calories you eat. Your doctor knows you inside and out better than any far-removed author of reducing plans that please the palate. Your doctor will prescribe a highly individualized diet--just for you--to help you beat the battle of the bulge, which this chart should show you goes on inside as well as out. Facts About Fat 0003500.tid pageTitle Fractures A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Fractures A fracture is a break in a bone, and may occur in any bone including the skull. Fractures are usually caused by traumatic injuries but they may also occur without injury in bone that has been weakened by disease. The various kinds of fractures have the following designations: - Complete--The bone is broken all the way across. - Incomplete--The break goes only partly through the bone; they occur very rarely and almost always in children (see greenstick fracture). - Greenstick--An incomplete fracture in which one side of the bone is broken and the other side is bent. This fracture most often occurs in the bones of young children which, like green sticks, are quite flexible. - Buckle--An incomplete fracture in which the bone is compressed or buckled. Like the greenstick, this fracture usually occurs only in the pliable bones of children. - Simple or closed--The skin surrounding the fracture has not been injured. - Compound or open--Bone fragments have pierced the skin resulting in an open wound. - Comminuted--The bone is fractured into more than two pieces. - Pathologic--A fracture which occurs from a mild stress in an area of bone that has been weakened by disease. As people age, their bones lose mineral substance and become more fragile. Because of this weakening, fractures may occur more easily in the bones of older people. The treatment of fractures will vary greatly depending upon the age of the patient, which bone is fractured, and the severity of the injury. Some fractures may require no treatment. Some require only an external plaster cast. More serious fractures may require that the bones be pulled into alignment and held with traction, and some may require direct repair with metal pins, nails, screws, or plates. In extreme cases, a portion of the bone may have to be replaced with an artificial section made out of plastic or metal. Fractures 0005200.tid pageTitle Lyme Disease A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Lyme Disease Starts with a Tick Bite Lyme disease is transmitted by ticks that feed on deer and small rodents, such as field mice. The ticks can also attach themselves to humans and pierce the skin for a blood meal. As the ticks feed, they infect humans with spirochetes (spiral bacteria) that spread outwardly, causing the red, circular, and expanding rash characteristic of many but not all cases of early Lyme disease. Widespread in the U.S. Lyme disease is so named because the term was first used to refer to an arthritic condition affecting children in Old Lyme, Connecticut. It was later learned that the arthritis was a complication of a tick bite and that the disease was not limited to that region. Lyme disease has now been diagnosed in the Northeast (Massachusetts to New Jersey) and upper Midwest (Wisconsin and Minnesota), where it is primarily caused by the tick known as Ixodes dammini, and on the Pacific Coast (California and Oregon), where it is transmitted by Ixodes pacificus. (See illustrations on front of chart.) Lyme disease usually occurs between April and October, with most cases originating in June and July. Although 1,500 cases are reported in this country each year, the true Lyme disease rate is probably four to five times higher. Red Rash and Other Signs The ticks are very small, only about the size of a poppy seed, and the bites often go unnoticed. Even when fully engorged with human blood, ticks are difficult to see. If you do notice a tick on your body, remove it by grasping it firmly with tweezers. Kill it by dousing in alcohol or bleach, and save the specimen to show to your doctor. If you cannot remove the tick or only get part of it out, see your doctor. The characteristic rash usually appears within 3 to 32 days of the tick bite, although 20% to 40% of infected individuals may never develop the rash. If you do develop the initial rash, you may later have smaller rashes elsewhere. As the spirochetes spread throughout the body, they may cause fever, flu-like symptoms, headaches, swollen lymph glands, and fatigue. If the heart becomes affected, you may experience dizziness, weakness, and irregular heart beats. If the spirochetes invade the nervous system, you may have trouble with concentration and muscle coordination. You may also develop Bell's Palsy (facial paralysis) on one or both sides of the face or similar conditions involving the nerves. Joints may become swollen and painful; the knee being the most frequently affected. If the disease is left untreated, chronic arthritis may develop. Pregnant women should be particularly watchful for tick bites and evidence of Lyme disease, since the disease could be transmitted to the fetus. In the vast majority of cases, however, pregnancies among women with Lyme disease have normal outcomes. Controlling Lyme Disease Oral antibiotics are usually effective in treating Lyme disease and preventing the long-term complications. The specific drug and how it is to be administered will vary according to individual and the extent of the disease. For example, although oral tetracycline is recommended for most adults, penicillin is usually advised for pregnant women and young children. You will need to make follow-up appointments with your doctor so your recovery can be checked. Most importantly, try to prevent Lyme disease by avoiding exposure to ticks. In wooded areas, and especially during the summer months, use tick repellant containing the chemical DEET. Wear a hat, long sleeves and pants, and tuck pant legs into socks or secure them around your ankles with a rubber band. Wearing light colors will make it easier to see ticks on your clothing. Lyme Diseaseto a 0005400.tid pageTitle Myocardial Infarction A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Myocardial Infarction-I What is a Myocardial Infarction? The word infarct means an area of tissue necrosis (death) due to significant interference with blood flow, nearly always the result of occlusion (blockage) of the supplying artery. Myocardium is the name for the muscular tissue of the heart. It is the contraction (systole) and relaxation (diastole) of the myocardium that comprises the heart beat. Thus a myocardial infarction means the death of a portion of the muscle tissue of the heart. If the blood supply is blocked in a large vessel, a large area of muscle can be affected (a so-called "massive heart attack"). If a small artery is blocked, the area affected will be small, and thus the attack will be a minor "heart attack." (The arterial system of the heart is illustrated below.) Blockage of the artery usually is due to arteriosclerosis (narrowing of the vessel by the buildup of plaque--see inset). This is similar to the narrowing of a water pipe from mineral deposits. The narrowing is not, however, uniform throughout the artery. See the following page for the areas of infarction produced by blockage of various arteries. Myocardial Infarction 007400.tid pageTitle Tonsillitis A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Tonsillitis What Are Tonsils? Tonsils are gland-like structures that are located along the sides and back of the throat. They are made up of lymph tissue and are covered by mucous membranes. There are three types of tonsils. The pharyngeal tonsils (also known as adenoids, particularly when they are swollen), are embedded in the upper back wall of the mouth, behind the nose. The lingual tonsil is located in the back of the mouth, near where the tongue is anchored. The paired palatine tonsils are on either side of the tongue, under the arches of the mouth. Tonsillitis generally refers to inflammation of the palatine tonsils. One of the functions of the lymphatic system is to develop immune responses to ward off infection and disease. As part of that system, the palatine tonsils filter out and defend the body against disease-causing organisms entering through the nose and mouth. Being on the first line of defense, however, means that the tonsils are continually exposed to these harmful organisms. If the tonsils become infected, tonsillitis results. Most cases of tonsillitis occur in children under eight years old, although some adults continue to develop tonsillitis. Symptoms of Tonsillitis Infection causes the tonsils to become inflamed and bright red. Other signs of tonsillitis are sore throat, difficulty in swallowing, and sometimes pain extending up to the ear. Tonsillitis may also cause fever, headaches, and vomiting. Determining the Cause Your doctor will examine your throat and, if the tonsils appear inflamed, do a throat culture to determine the cause of the problem. Other members of your household should also have throat cultures and receive any necessary treatment to avoid passing the illness back and forth. If a virus caused the tonsillitis, treatment will include an analgesic and rest. If the streptococcus bacteria is the cause, penicillin is usually given for ten days. The throat culture may later be repeated to see if the treatment was effective. Must the Tonsils Be Removed? Years ago, the tonsils were often surgically removed even if only minor infections occurred, or sometimes even before any problems had arisen. Nowadays, surgery is performed only if tonsillitis occurs several times a year, or if the condition continues and the tonsils become so enlarged that swallowing and breathing become increasingly difficult. Children undergoing the procedure, known as tonsillectomy, receive general anesthesia. Following the operation, the child will still have a sore throat and difficulty in swallowing. Both conditions should clear up in a week or so. A possible postoperative complication is bleeding and spitting up of blood. This should receive prompt medical attention. An adult can have a tonsillectomy with only a local anesthesia. The operation may cause more postoperative pain for adults and require longer hospitalization and recovery time than it does for children. Tonsillitis 0008600.tid pageTitle Hysterectomy A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Hysterectomy Hysterectomy means the removal of the uterus. The ovaries and fallopian tubes may be removed at the time a hysterectomy is performed, but this is not always the case. If one or both of the ovaries are left in place, the change of life will not necessarily follow the operation. Menstruation, however, will cease with the removal of the uterus. The operation is usually performed through a four to six inch incision in the lower abdomen. In some cases, however, the uterus can be removed through the vagina. The surgery itself takes about an hour or two to perform, and is generally done under spinal or general anesthesia. Most patients can get out of bed the day after surgery and can leave the hospital in about five to ten days. The hysterectomy will have no effect on the patient's sexual urges or activity, and she may resume sexual relations in six weeks. She can resume all of her normal activities in about ten weeks. Hysterectomy to 0009200.tid pageTitle Anemia A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Anemia Common Signs and Symptoms of Anemia Feeling tired and "run-down" may be the only signs of anemia, although some people may become pale and short of breath. In more serious cases, anemia may also cause headaches, ringing of the ears, dizziness, drowsiness, and irritability. What Causes Anemia? Anemia is the shortage of red blood cells or of hemoglobin, the part of the blood that gives those cells their color and carries oxygen to other cells. There are three major causes: - Blood Does Not Form Properly. The most common reason for this and the most common cause of anemia is an insufficient amount of iron. Iron deficiency anemia could be caused by not eating enough iron-rich foods or by the body's failure to absorb and use iron correctly. Other diet-related causes of anemia include deficiencies in vitamins B12 and C. Other reasons the blood may not form properly are disorders of the bone marrow, where red blood cells are made, and of the kidneys, which produce the hormone that stimulates formation of red blood cells. - Blood Loss. A shortage of red blood cells can occur as a result of long-term, but steady (chronic) bleeding from ulcers or hemorrhoids, or from short-term, but heavy (acute) bleeding from serious injury. - Blood Cell Destruction. Certain conditions cause red blood cells to be destroyed faster than they can be replaced. The spleen normally disposes of worn-out blood cells, but when it is damaged and enlarged, it may remove these cells too soon. Disorders of the immune system, infections, and weakness of the cell's outer layer or membrane, can also cause premature blood cell destruction. Two inherited types of anemia give rise to abnormal hemoglobin and fragile red blood cells. Persons with Cooley's anemia, also known as thalassemia major, cannot manufacture enough hemoglobin, and the red blood cells are almost empty. The disease is most common among people of Mediterranean, Middle Eastern, or Asian descent. In sickle cell anemia, the hemoglobin, once it releases its oxygen, tends to clump together and causes the red blood cells to take on a sickle or crescent shape. These cells can cause pain as they try to squeeze through small blood vessels. In the U.S., sickle cell anemia occurs most commonly, but not exclusively, among blacks. Diagnosis and Treatment If anemia is suspected, your doctor will run one or more series of blood tests to measure the volume of red blood cells and hemoglobin and to check for changes specific for different types of anemia. Your doctor will also try to determine the source of possible internal bleeding or rule it out as a cause. Iron deficiency anemia can be cured by eating iron-rich foods, such as beef, liver, chicken, spinach, eggs, cheese, and milk. Iron supplements should only be taken under a doctor's guidance, since excess iron can harm the heart and liver. Deficiencies in vitamin B12 may be corrected by eating more meats, peas, and beans. Citrus fruits are especially high in vitamin C. Many of the foods that can correct dietary deficiencies are high in fat and cholesterol, so check with your doctor before altering your diet, and choose wisely. Both Cooley's anemia and sickle cell anemia are incurable, but treatable. Patients with Cooley's anemia receive regular blood transfusions and a drug to remove the excess iron that remains behind as the transfused cells are broken down over their natural lifespans. Treatment for sickle cell anemia primarily involves pain killers, with blood transfusions reserved for more serious cases. Younger children are likely to develop infections that could be life-threatening and so receive preventive doses of penicillin. Current research promises to find ways of treating the red blood cells directly. Anemiad th 0009700.tid pageTitle Cirrhosis of the Liver A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Cirrhosis of the Liver The Indispensable Liver The liver is the body's largest organ and has many vital functions involving the use of food for energy. These include the production of bile to help digest fat, of proteins for cell growth and repair, and of enzymes needed to trigger internal reactions. Serving as the body's "detoxification" center, the liver bears the brunt of harmful chemicals, drugs, and alcohol. Even a few days of heavy drinking can cause a buildup of fat and water, a reversible condition known as fatty liver. Although the liver can repair limited damage from abuse and injury, continued assaults on the liver cause the formation of scar tissue. The Causes of Cirrhosis of the Liver More than 27,000 Americans die from cirrhosis of the liver each year. It is this country's third leading cause of death among those aged 25 to 59. Most, but by no means all, cases of cirrhosis are caused by alcohol abuse. Even so, most alcoholics do not develop cirrhosis, and cirrhosis can occur in people who are only moderate drinkers and among young children who have never had an alcoholic drink. These children usually lack a properly functioning duct to transport bile from the liver to the digestive tract. Bile duct obstruction can also lead to cirrhosis among adults. Other causes include exposure to potent insecticides and chemicals in the workplace, reactions to medications and other drugs, some forms of viral hepatitis and other diseases, and the inability of the body to properly process iron, copper, or sugar. Signs and Symptoms In most cases, there are no early signs of cirrhosis, and the disease may go undetected until it is in the advanced stages or is diagnosed in the course of treating another illness. As the disease establishes itself, some patients may experience weakness, fatigue, loss of appetite, nausea and vomiting, and weight loss. Later symptoms may include abdominal pain and distension due to fluid build-up, itching, a foul-smelling "liver breath," jaundice or yellowing of the skin and whites of the eyes as the liver is unable to remove bile pigments, vomiting of blood, loss of hair, and nervous system disorders that could possibly lead to coma. Blood and urine samples may indicate liver function problems, but these tests can also produce normal results when cirrhosis is present. Liver scans may show abnormal uptake of test materials. The most useful tool for definitively establishing a diagnosis of cirrhosis and determining stage of disease is a needle biopsy. In this procedure, a slender needle is inserted into the liver and a tissue sample withdrawn for inspection under a microscope. The Treatment of Cirrhosis of the Liver If cirrhosis is determined to be caused by alcohol or another identifiable substance, the patient will of course be advised to avoid the cause. Those with alcoholic cirrhosis may also be advised to follow a healthy diet. Although viral hepatitis is not curable, experimental drugs may be prescribed to enhance the body's immune system and control the disease. Distension may be controlled by restricting salt intake and taking diuretics to help rid the body of excess water. Patients with cirrhosis are often less able to fight infection and more likely to suffer kidney problems, stomach ulcers, gallstones, a form of diabetes, and liver cancer. A drug used to treat gout is showing promise in improving survival rates of patients with cirrhosis. In controlled studies, patients receiving the drug, colchicine, had five-year survival rates of 75%, compared to 34% in the untreated group. After ten years, the rates were 56% and 20%. Cirrhosis of the Liverways 0015300.tid pageTitle Otitis Externa A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Otitis Externa Water Gets Trapped in the Ear Otitis externa is brought on by too much moisture in the external auditory canal. This passageway leading from the outer ear opening to the eardrum is approximately one inch long. The lingering moisture softens and wears away the skin lining the outer ear canal, making it more susceptible to infection, usually by bacteria and occasionally by a fungus. Often the excess moisture is the result of water entering the ear during diving or swimming, giving the condition its common name of "swimmer's ear." Otitis externa can also be caused by hair spray or hair dye, or by aggressive cleaning of the ear with a cotton swab. Dead cells from the skin lining the ear are naturally edged outward, taking with them other accumulated debris, but inserting a cotton swab pushes these substances back into the ear. The debris and cerumen (commonly called earwax) can trap water or other sources of moisture in the canal. Otitis externa can also be caused by a furuncle, a boil resulting from an abscess of a hair follicle in the ear. If you have allergies or skin conditions, such as eczema or psoriasis, you may be more likely to develop otitis externa. Signs and Symptoms Symptoms of otitis externa include itching, burning, and pain. Furuncles can be particularly painful. The skin lining the external auditory canal may appear red and swollen and the canal may become filled with pus, causing a bad-smelling discharge and temporary loss of hearing. Ear Drops and Analgesics Because of the possibility of pushing the pus and debris farther into the ear, removal of accumulated material should be left to your doctor, who may remove it with irrigation, suction, or dry wipes. Ear drops may then be instilled. These drops may be an acetic acid and water solution (acetic acid is the principal acid in vinegar) or a combination of cortisone-like drugs to reduce the swelling and antibiotics to destroy the bacteria. Codeine or other analgesics may be needed for pain relief. Oral antibiotics may be needed, especially if there is spreading cellulitis, a bacterial infection that can penetrate deep into the skin and have more widespread effects on other parts of the body. Due to the severe pain associated with furuncles, analgesics are almost always prescribed. Furuncles should be allowed to drain naturally and while draining will discharge a bloody pus. They should not be pierced to produce drainage, since this could cause a spreading inflammation. Applying drops is not effective for furuncles. Otitis Externa hel 0016300.tid pageTitle Appendicitis A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ Appendicitis Appendicitis begins when the appendix becomes blocked or kinked. The obstruction may be followed by bacterial infection. Typically, the first symptom of appendicitis is pain around the navel. Loss of appetite, nausea, and vomiting may follow. After several hours, the pain usually shifts to the lower right abdomen; but because the appendix moves around quite a bit within the abdomen, the pain may be anywhere. The point of extreme tenderness, which usually marks the approximate location of the base of the appendix, is called McBurney's point. If the infected appendix is not removed surgically, it may burst, spreading the infection throughout the abdominal cavity. If the appendix does burst and is left untreated, peritonitis (which is an inflammation of the lining of the abdomen) may result with or without formation of an abscess (a collection of pus). This is a serious complication which may lead to death. An appendectomy (the surgical removal of the appendix) is a common, safe operation with almost uniformly good results. The average case--if caught before the appendix ruptures--requires a hospital stay of only about a week. Appendicitisocar 0003201.tid pageTitle Infant evaluation at birth--Apgar scoring system ___________________________________________________________ 0 1 2 ___________________________________________________________ Respiratory effort Absent Slow or irregular Good crying Muscle tone Limp Some flexion Active motion of extremities Response to catheter None Grimace Cough or sneeze in nostril Color Blue or Pale Body pink, Completely pink extremities blue ___________________________________________________________ Infant evaluation at birth--Apgar scoring systemeeks 4hQTW,moviePath %laying tbkQTWClose( moviePlaying tbkQTWMovieDone hqtwMovie terPage leavePage enterPage tbkQTWMovieDone enterPage moviePath leavePage tbkQTWClose moviePlaying tbkQTWMovieDone tbkQTWClose moviePlaying hqtwMovie pagetitle Human Anatomy :PHYSSIZE 43 --"circ" buttonUp buttonUp Muscular 6 --"muscle" buttonUp buttonUp Digestive 36 --"digestive" buttonUp buttonUp repro 57 --"repro" buttonUp buttonUp nerves 65 --"nervous" buttonUp buttonUp Using the MOUSE LEFT CLICK mouse button: for navigation to a specific system with the page tabs, down one level in main display, up or down the zoom level, and across the view selection. RIGHT CLICK mouse button: for body part pronunciation and to view a list of related articles or illustrations.... 4hQTW,moviePath B"*MovieStart" --Get coordinates x,y,width,height wRect clientFromPage( ,sysMagnification, \ "MovieRect" -- caculate the difference vs Bruk's 180w X 130h xdif (x2-x1-180) ydif (y2-y1-130) tbkQTWOpenAsChildWindow( & "dr_bruk.mov", , sysClientHandle, x1+ }/2, y1+ q/2, 0, 0) <1, y1, x2, y2) tbkQTWShow( laying tbkQTWClose( moviePlaying tbkQTWMovieDone hqtwMovie tbkQTWPause( tbkQTWSeek( terPage leavePage enterPage tbkQTWMovieDone enterPage *MovieStart MovieRect clientFromPage dr_bruk.mov tbkQTWOpenAsChildWindow dr_bruk.mov tbkQTWOpenAsChildWindow tbkQTWShow wRect moviePath leavePage tbkQTWClose moviePlaying tbkQTWMovieDone tbkQTWPause tbkQTWSeek *MovieStart moviePlaying hqtwMovie FirstAid2 Text1 SlideWindow Text2 Text3 4actViewName, actInName, actOutName, actAudName objectFromPoint( x"*" "view" navIn navOut Sound xNULL down }location, isShift, isCtrl False TRUE --Save incase we need resurect --Play associated audio on 4wavPath, -- waveFile -- tbkMCIchk("play" && !,"") -- ~(" ", fname & ". -- io on 4idxPath, aDlgView, aDlgCategory, cdRomDrive ~(" ", & ".wav" --Construct Display dialog box the PeelAway Man displayDialog( 4 --hour glass comes up (so let's force key, ontrol isControl 4lastDir menus "Print Article" "Character" "Copy" "SelectAll" dependentMenus() 4midVisM, maxVisM = "msb" Check state radio buttons change needed. FALSE = "mgb" -- "muscle" -- Enter rightButtonDown keydown buttonUp keyup enterBackground mouseEnter enterPage mouseEnter navIn navOut Sound actViewName actInName actOutName actAudName buttonUp actInName actOutName isCtrl isShift location rightButtonDown Sound active,checked tbkMCIchk tbkMCIchk displayDialog fname waveFile idxPath aDlgView aDlgCategory cdRomDrive wavPath actViewName actAudName keydown previous actOutName isControl isShift keyup actInName isControl isShift enterBackground Print Article Character SelectAll dependentMenus lastDir enterPage muscle midVisM maxVisM firstaid --Processes DiscPassage files processFileList() --This function will O listed 4 gmemHeader, gmemTitle, gmemUnique, gmemLog 4 lpHeader, lpTitle, lpUnique, lpLog ("Insert fileList --allocate Text buffers, routine fails completely textBuffers() "no such --Copy additional materials clipboard /"textSkeleton" "logField" --loop through readInFileNames( fname addTextPage( dpTextFile( --cleanUp ourselves freeTextBuffers() --convert ref. names pageToPageIds() template "textTemplate" "AOK" --addTextpage() need H"ReadDPText" DLL ) - 8) retrieve a section its two parts, body. -- Put article (non BRS content) = "ERROR" "dir" xNULL -- Paste docType title -- Set property used feature creation mapfile pageTitle q seen -- Use toolbook overflow modify necessary O- 2) "..." begin processing Zeat reaches linkDLL "c:\dlls\ STRING ,POINTER, global memory brsHeader, brsTitle, brsUnique, brsLog tbkGlobalAlloc(0,6000) tbkGlobalLock( = -1 = -1 tbkGlobalFree( "Error: can HEADER globalLock( = -1 = -1 ITLE tbkglobalAlloc(0,30) = -1 = -1 UNIQUE 2450) = -1 = -1 le, allocated unlinkDLL " .dll" --Get /"hierarchical Menus" menuPages Start stepping -- -- Show status on screen convertToIds( --Convert references Find length dirLen "TXT" -- -- Replace buttonUp dpTextFile processFileList readInFileNames textBuffers freeTextBuffers addTextPage pageToPageIds convertToIds buttonUp processFileList processFileList Insert name of the File List cancel author textBuffers no such file textSkeleton logField readInFileNames addTextPage dpTextFile freeTextBuffers pageToPageIds textTemplate fname fileList lpHeader lpTitle lpUnique lpLog gmemHeader gmemTitle gmemUnique gmemLog addTextPage textSkeleton y5newPage fname dpTextFile ReadDPText ERROR ERROR paste pageTitle pageTitle pageTitle pageTitle pageTitle pageTitle overflow title docType lpHeader lpTitle lpUnique lpLog fname readInFileNames fname textBuffers c:\dlls\text.dll ReadDPText tbkGlobalAlloc tbkGlobalLock tbkGlobalFree Error: can not allocate HEADER buffer tbkGlobalAlloc globalLock tbkGlobalFree tbkGlobalFree Error: can not allocate TITLE buffer tbkglobalAlloc globalLock tbkGlobalFree tbkGlobalFree tbkGlobalFree Error: can not allocate UNIQUE buffer globalAlloc globalLock tbkGlobalFree tbkGlobalFree tbkGlobalFree tbkGlobalFree Error: can not allocate LOG buffer lpHeader lpTitle lpUnique lpLog gmemHeader gmemTitle gmemUnique gmemLog freeTextBuffers tbkGlobalFree tbkGlobalFree tbkGlobalFree tbkGlobalFree text.dll gmemHeader gmemTitle gmemUnique gmemLog pageToPageIds hierarchical Menus hierarchical Menus convertToIds menuPages convertToIds dirLen menuPage FirstAid playPage buttonUp buttonUp cplayPage nextPage buttonUp buttonUp jnextPage prevPage buttonUp buttonUp iprevPage Title Subtitle exitFirstAid buttonUp buttonUp N%exitFirstAid 4hQTW,moviePath B"*MovieStart" --Get coordinates x,y,width,height wRect clientFromPage( ,sysMagnification, \ "*MovieRect" -- caculate the difference vs Bruk's 180w X 130h xdif (x2-x1-180) ydif (y2-y1-130) tbkQTWOpenAsChildWindow( & "musskel.mov", , sysClientHandle, x1+ }/2, y1+ q/2, 0, 0) <1, y1, x2, y2) tbkQTWShow( laying tbkQTWClose( moviePlaying tbkQTWMovieDone hqtwMovie tbkQTWPause( tbkQTWSeek( terPage leavePage enterPage tbkQTWMovieDone enterPage *MovieStart *MovieRect clientFromPage musskel.mov tbkQTWOpenAsChildWindow musskel.mov tbkQTWOpenAsChildWindow tbkQTWShow wRect moviePath leavePage tbkQTWClose moviePlaying tbkQTWMovieDone tbkQTWPause tbkQTWSeek *MovieStart moviePlaying hqtwMovie FirstAid1 "Text1" "Text2" "Text3" enterPage leavePage enterPage leavePage Text1 Text2 Text3 Text1 Text2 Text3 4hQTW,moviePath B"*MovieStart" --Get coordinates x,y,width,height wRect clientFromPage( ,sysMagnification, \ "*MovieRect" -- caculate the difference vs Bruk's 180w X 130h xdif (x2-x1-180) ydif (y2-y1-130) tbkQTWOpenAsChildWindow( & "digestiv.mov", , sysClientHandle, x1+ ~/2, y1+ r/2, 0, 0) <1, y1, x2, y2) tbkQTWShow( laying tbkQTWClose( moviePlaying tbkQTWMovieDone hqtwMovie tbkQTWPause( tbkQTWSeek( terPage leavePage enterPage tbkQTWMovieDone enterPage *MovieStart *MovieRect clientFromPage digestiv.mov tbkQTWOpenAsChildWindow digestiv.mov tbkQTWOpenAsChildWindow tbkQTWShow wRect moviePath leavePage tbkQTWClose moviePlaying tbkQTWMovieDone tbkQTWPause tbkQTWSeek *MovieStart moviePlaying hqtwMovie 4actViewName, actInName, actOutName, actAudName objectFromPoint( x"*" "view" navIn navOut Sound xNULL down }location, isShift, isCtrl False TRUE --Save incase we need resurect --Play associated audio on 4wavPath, -- waveFile -- tbkMCIchk("play" && !,"") -- ~(" ", fname & ". -- io on 4idxPath, aDlgView, aDlgCategory, cdRomDrive ~(" ", & ".wav" --Construct Display dialog box the PeelAway Man displayDialog( 4 --hour glass comes up (so let's force key, ontrol isControl 4lastDir menus "Print Article" "Character" "Copy" "SelectAll" dependentMenus() 4midVisR, maxVisR = "rsb" Check state radio buttons change needed. FALSE = "rgb" -- "circ" -- Enter rightButtonDown keydown buttonUp keyup enterBackground mouseEnter enterPage mouseEnter navIn navOut Sound actViewName actInName actOutName actAudName buttonUp actInName actOutName isCtrl isShift location rightButtonDown Sound active,checked tbkMCIchk tbkMCIchk displayDialog fname waveFile idxPath aDlgView aDlgCategory cdRomDrive wavPath actViewName actAudName keydown previous actOutName isControl isShift keyup actInName enterBackground Print Article Character SelectAll dependentMenus lastDir enterPage midVisR maxVisR 4actViewName, actInName, actOutName, actAudName objectFromPoint( x"*" "view" navIn navOut Sound xNULL down }location, isShift, isCtrl False TRUE --Save incase we need resurect --Play associated audio on 4wavPath, -- waveFile -- tbkMCIchk("play" && !,"") -- ~(" ", fname & ". -- io on 4idxPath, aDlgView, aDlgCategory, cdRomDrive ~(" ", & ".wav" --Construct Display dialog box the PeelAway Man displayDialog( 4 --hour glass comes up (so let's force key, ontrol isControl 4lastDir menus "Print Article" "Character" "Copy" "SelectAll" dependentMenus() 4maxVisD = "dsb" Check state radio buttons change needed. FALSE "dgb1f" -- "digestive" -- Enter rightButtonDown keydown buttonUp keyup enterBackground mouseEnter enterPage mouseEnter navIn navOut Sound actViewName actInName actOutName actAudName buttonUp actInName actOutName isCtrl isShift location rightButtonDown Sound active,checked tbkMCIchk tbkMCIchk displayDialog fname waveFile idxPath aDlgView aDlgCategory cdRomDrive wavPath actViewName actAudName keydown previous actOutName isControl isShift keyup actInName enterBackground Print Article Character SelectAll dependentMenus lastDir enterPage dgb1f digestive maxVisD reprodMovie *MovieStart 4moviePlaying, hQTW NULL tbkQTWPlay( "Stop" -- stop tbkQTWPause( tbkQTWSeek( s, 0) buttonUp buttonUp tbkQTWPlay tbkQTWPause tbkQTWSeek moviePlaying :PHYSSIZE *MovieRect nervousMovie *MovieStart 4moviePlaying, hQTW NULL tbkQTWPlay( "Stop" -- stop tbkQTWPause( tbkQTWSeek( s, 0) buttonUp buttonUp tbkQTWPlay tbkQTWPause tbkQTWSeek moviePlaying :PHYSSIZE *MovieRect 4hQTW,moviePath B"*MovieStart" --Get coordinates x,y,width,height wRect clientFromPage( ,sysMagnification, \ "*MovieRect" -- caculate the difference vs Bruk's 180w X 130h xdif (x2-x1-180) ydif (y2-y1-130) tbkQTWOpenAsChildWindow( & "cardpul.mov", , sysClientHandle, x1+ }/2, y1+ q/2, 0, 0) <1, y1, x2, y2) tbkQTWShow( laying tbkQTWClose( moviePlaying tbkQTWMovieDone hqtwMovie tbkQTWPause( tbkQTWSeek( terPage leavePage enterPage tbkQTWMovieDone enterPage *MovieStart *MovieRect clientFromPage cardpul.mov tbkQTWOpenAsChildWindow cardpul.mov tbkQTWOpenAsChildWindow tbkQTWShow wRect moviePath leavePage tbkQTWClose moviePlaying tbkQTWMovieDone tbkQTWPause tbkQTWSeek *MovieStart moviePlaying hqtwMovie 4hQTW,moviePath B"*MovieStart" --Get coordinates x,y,width,height wRect clientFromPage( ,sysMagnification, \ "*MovieRect" -- caculate the difference vs Bruk's 180w X 130h xdif (x2-x1-180) ydif (y2-y1-130) tbkQTWOpenAsChildWindow( & "reprod.mov", , sysClientHandle, x1+ |/2, y1+ p/2, 0, 0) <1, y1, x2, y2) tbkQTWShow( laying tbkQTWClose( moviePlaying tbkQTWMovieDone hqtwMovie tbkQTWPause( tbkQTWSeek( terPage leavePage enterPage tbkQTWMovieDone enterPage *MovieStart *MovieRect clientFromPage reprod.mov tbkQTWOpenAsChildWindow reprod.mov tbkQTWOpenAsChildWindow tbkQTWShow wRect moviePath leavePage tbkQTWClose moviePlaying tbkQTWMovieDone tbkQTWPause tbkQTWSeek *MovieStart moviePlaying hqtwMovie *flem pageTitle The Family Doctor, 3rd Edition Credits and Copyright Credits and Copyright _________________________ The Family Doctor Team: Author & Editor: Allan H. Bruckheim, M.D., FAAFP Development: David Bleckmann, Collin Bremner, Gene Ragan Production: Mark Johnson, John Williamson, Theresa Inman, Linda Wolffe, Kelly Clarke Quality Assurance: Janise McMenamin Executive Producer: Chen-Chi Yuan Technical Writer: Steve Munger Publisher: Judith D. Grillo Executive Publisher: Eric Pozzo Copyright Notice: The video introduction in The Family Doctor was written and recorded by Dr. Allan H. Bruckheim who also serves as editor, author and advisor of the CD-ROM title. The Questions and Answers are based upon "The Family Doctor", a nationally syndicated copyrighted column by Tribune Media Services, Inc. Portions Copyright (c) 1991-1993, 1994 by Allan H. Bruckheim, M.D. and Tribune Media Services, Inc. All rights reserved. The 900+ files of information on rare diseases used with permission from the National Organization for Rare Disorders, Inc., 100 Route 37, P.O. Box 8923, New Fairfield, CT. 06812-1783. Copyright (c) 1984-1993, 1994 by the National Organization for Rare Disorders, Inc. The New Prescription Drug Reference Guide by the Editors of Consumer Guide (R) reprinted with permission from Publications International, Ltd. Copyright (c) 1993 by Publications International, Ltd. All rights reserved. Basic First Aid animations developed by Dash Digital, 1631 SW Columbia, Portland, OR 97201. Copyright (c) 1993, 1994 by Creative Multimedia Corporation. The Resources Section includes Associations & Foundations, Educational Resources and Support Groups and Health Update Booklets. These Resources were written, compiled and edited by Dr. Allan H. Bruckheim. Copyright (c) 1991-93, 1994 by Allan H. Bruckheim, M.D. The Patient Education Illustrations reprinted with permission from Resident and Staff Physician. Copyright (c) 1991-93, 1994 by Romaine Pierson Publishers, Inc. All rights reserved. The Anatomy of the Human Body illustrations were designed and developed by Collin Bremner and Bill Fiesterman. Audio recording courtesy of Alyssa Bremner. Copyright (c) 1992-93, 1994 by Creative Multimedia Corporation. Video licensed courtesy of "The Living Body Series", from the Altschul Group Corporation. Copyright (c) 1993, 1994 by Creative Multimedia Corporation. Audio for Basic First Aid, the Introduction to the Anatomy of the Human Body and the video of the Anatomy of the Human Body was recorded by Richard Moore, Northwest VideoWorks, Inc. 1631 SW Columbia, Portland, OR 97201. Interface Design developed by Collin Bremner and Andrew Davies. Copyright (c) 1992-93, 1994 Creative Multimedia Corporation. Copyright (c) 1991-93, 1994 Creative Multimedia Corporation. QuickTime for Windows(TM), Copyright (c) 1992, Apple Computer, Inc. ToolBook(R) 1.53, Copyright 1992, Asymetrix(R) Corporation. A portion of this product was developed using MacroMind Director, version 3.1, copyright (c) 1992, Macromedia(TM), Inc. Other words, images and sounds copyright of respective owners. Windows is a registered trademark of MicroSoft Corporation. All rights reserved. Made in U.S.A..... The Family Doctor, 3rd Edition Credits and Copyright 4wavPath tbkMCIchk("play" && & "koskesi. +","") buttonDoubleClick buttonDoubleClick koskesi.wav tbkMCIchk wavPath :PHYSSIZE 4firstaidFile,firstaidAlias,faImageFile,faPath xNULL -- Open QT slide 0 (which should be blank) "TBKFAAlias" tbkMCI("close " & tbkMCIchk(" & ".mov style child " & sysClientHandle & \ " alias " & "", 1) ]seek " & & " 0", "", 1) -- Now correct location hWin status " & & " ","",1,1) wRect clientFromPage( sysMagnification, "SlideWindow" --Break coordinates up x,y,width,height nWidth nHeight nthe MoveWindow( ,x,y, e" & & " state ", "", 1) -- comment out realize " & & " w", "", 1) e" & & " ", "") "Text1" "Text2" "Text3" enterPage leavePage enterPage TBKFAAlias close tbkMCI open .mov style child parent alias tbkMCIchk seek to 0 tbkMCIchk status window handle tbkMCIchk SlideWindow clientFromPage MoveWindow window state show tbkMCIchk realize normal tbkMCIchk nHeight nWidth wRect firstaidFile firstaidAlias faImageFile faPath leavePage window state hide tbkMCIchk close tbkMCIchk Text1 Text2 Text3 firstaidAlias faImageFile 4hQTW,moviePath B"*MovieStart" --Get coordinates x,y,width,height wRect clientFromPage( ,sysMagnification, \ "*MovieRect" -- caculate the difference vs Bruk's 180w X 130h xdif (x2-x1-180) ydif (y2-y1-130) tbkQTWOpenAsChildWindow( & "nervous.mov", , sysClientHandle, x1+ }/2, y1+ q/2, 0, 0) <1, y1, x2, y2) tbkQTWShow( laying tbkQTWClose( moviePlaying tbkQTWMovieDone hqtwMovie tbkQTWPause( tbkQTWSeek( terPage leavePage enterPage tbkQTWMovieDone enterPage *MovieStart *MovieRect clientFromPage nervous.mov tbkQTWOpenAsChildWindow nervous.mov tbkQTWOpenAsChildWindow tbkQTWShow wRect moviePath leavePage tbkQTWClose moviePlaying tbkQTWMovieDone tbkQTWPause tbkQTWSeek *MovieStart moviePlaying hqtwMovie 05016.TXT pagetitle First Aid Kit Copyright (c) 1993 Creative Multimedia First Aid Kit _________________________ A First Aid Kit is intended to be used during minor emergencies, but if properly stocked, can help you to deal with serious emergencies until professional medical help arrives. Having the right supplies nearby during an emergency can make a big difference in your ability to promptly respond. The Kit should be large enough for you to clearly see and find anything you need quickly. The location of the kit should always be the same so you can find it immediately, but out of the reach of young children. Keep it apart from other medicines and supplies, and check it frequently to be sure to replace used and expired supplies. The basic contents of your home First Aid Kit should include: Dressings: Adhesive Bandages, assorted sizes Adhesive Tape and Thin Adhesive Strips Cotton-tipped Swabs Elastic Bandages Gauze Bandages, assorted rolled sizes Sterile Absorbent Cotton Sterile Gauze Pads, assorted sizes Equipment: Bulb Syringe Eye Cup Hot water bottle Ice pack Oral and Rectal Thermometers Safety Pins Scissors Tweezers Medications: Acetaminophen Antihistamine Antiseptic Ointment Aspirin Calamine Lotion Hydrogen Peroxide Ibuprofen Salt Tablets Sterile Eye Wash Syrup of Ipecac Toothache Gel Miscellaneous: Bar of unscented soap Disposable gloves Tissues Add any special items, for example, an allergy kit, that may be needed by you or your family. In an emergency there are a number of everyday items around the home that can also be useful. Try to keep the following in mind, or keep a copy of this list with your First Aid Kit: Diapers, Sanitary Napkins, Towels and Linens for use as a compress, for bandages, or padding a splint. Blankets to keep the victim warm. Magazines, Newspapers, Umbrella, Cane, Pillow, Broomstick to use as splints. Door, Table Leaf to use as a stretcher. Scarf, Handkerchief, Cloth Table Napkin to use as bandage or sling. _______________ This Section has been prepared as a quick-reference, but should in no way substitute for the extensive and professional training you should receive to be fully prepared for an emergency. We recommend you contact your local hospital or American Red Cross for comprehensive First Aid training and certification. First Aid Kit 4lastDir "Save Article" (DEEEMED NOT NECESSARY) "Print "Select All" "Character" "Copy" "Paste" (N/N) dependentMenus() dependentButtons() "statusfield" --SearchStatus() --This function initiates the routines: RetrieveHits(), RetrieveMatches(), DisplayHits() DisplayMatches(). 4shandle (i+1) "SearchLineFlags" DisplayResults("hitList", "hits",0) $matchList", "cMatch",1) --Clear hidden fields keep old results being display "searchLineFlags" makes call , lastSuccess "index" & idxField convertIdxLetter( idxFile "buttonSelect" & tempbutton tempName searchTerm FALSE "boolean" & x"boolean0" CMCSearch( x"ERROR" starts operations on lines that follow. NOTE: 2 could effect succeeding --'i' determines which begSearchLine tempSuccess " & i RetrieveBoolean( retrieves operator searchLine1, searchLine2 tempname <> "" booleanOp + 1) "Error " --better error handling needs be done "Please asure each preceded handles displaying are determined (parameter) passed targetField, targetColumn, startLine -- real cludgy ; & 0 tempColumn "Hits0" v & i B(i+1) sets up fully qualified path file idxLetter 4cdRomDrive, idxPath "Words" & & " "Subjects" Q & "subjects. "Titles" & "titles. "Index a value [W|S|T]" --bogus user 4 --bail 4, no damage --Beginning chandlers --ShowBooleans() selecting a " Pop-up ; booleanName Zmenulist --setup popup popMenu "AND," & \ "OR," & \ "NOT," & \ "OFF" ,sysMagnification, \ SetBooleans( ,"OR") will 's choice booleanField, B"checkboolean" --ShowIndexes() -- Author indexes have been removed. Family Doctor doesn't "Authors" y indexName --Setup ," & \ ," & \ SetIndexes( main purpose yes, should be --It also flag types -- changed. indexField, indexOp B"checkindex" + 1) + 1) --End --Beggining interface --fillCard() --Fill ftheir corresponding global values (taking advantage fact "changable" created sequentially) algorithm used here specifically tied E ID numbers 4 searchTemplet, searchTitles, chkbooln, chkindx, \ fsearchLine, fhitList, fmatchList Bi+1 --store flags ID 19 ID 20 ID 21 saved on disc Bi+1 BID i (must be one more than i) titleList --**ReStore BSelects "AOK" --fillVar() stores template ID i & ID 19 ID 20 ID 21 BID i & ID 22 --** --showStatusInfo context sensitive information on B objectName = databaseMenu source "statusField" Q = indexType = indexTypeCheckbox "Set entries same = clearAll = searchOperator x, off" = searchOperatorCheckbox = searchItem "Enter phrase = selectBtn "Activate = selectTitle found = showTitles = browse "Brings up a supplied --" && terPage leavePage enterPage showStatusInfo RetrieveBoolean DisplayResults RetrieveHits convertIdxLetter ShowBooleans RetrieveMatches SetBooleans ShowIndexes SetIndexes SearchStatus fillCard fillVar enterPage Print Article Select All Character dependentMenus dependentButtons lastDir leavePage statusfield SearchStatus SearchLineFlags RetrieveHits RetrieveMatches hitList DisplayResults matchList cMatch DisplayResults searchLineFlags matchList shandle RetrieveHits index convertIdxLetter buttonSelect searchLine boolean boolean0 hitList CMCSearch ERROR hitList searchTerm tempName tempbutton idxFile idxField shandle lastSuccess searchLine RetrieveMatches buttonSelect searchLine RetrieveBoolean tempName tempbutton tempSuccess lastSuccess begSearchLine RetrieveBoolean boolean tempname CMCSearch ERROR matchList Error in boolean operation Please make sure each active search line is preceded by a boolean operator booleanOp tempName shandle searchLine2 searchLine1 DisplayResults cMatch Hits0 tempColumn startLine targetColumn targetField convertIdxLetter Words words.idx Subjects subjects.idx Titles titles.idx Index field needs a value of [W|S|T] idxFile cdRomDrive idxPath idxLetter ShowBooleans popMenu SetBooleans SetBooleans SetBooleans SetBooleans menulist booleanName SetBooleans checkboolean boolean tempName booleanOp booleanField ShowIndexes Words, Subjects, Titles popMenu Words SetIndexes Subjects SetIndexes Titles SetIndexes menulist indexName SetIndexes checkindex index searchLineFlags searchLineFlags tempName indexOp indexField fillCard checkboolean checkboolean checkindex checkindex titleList searchTemplet searchTitles chkbooln chkindx fsearchLine fhitList fmatchList fillVar checkboolean checkindex searchTemplet searchTitles chkbooln chkindx fsearchLine fhitList fmatchList showStatusInfo Select which source to search from statusField Search by Words, Subject, or Title statusField Set all entries to the same search type statusField Clear search entries and results statusField Set search operator to: and, or, not, off statusField Set all entries to the same operator statusField Enter word or phrase to search for statusField Activate or deactivate search line statusField Select title found in search statusField Display titles found in search statusField Brings up a list of all words in this index statusField No status information has been supplied for -- browse showTitles selectTitle selectBtn searchItem searchOperatorCheckbox searchOperator clearAll indexTypeCheckbox indexType databaseMenu objectName '0"a` > 3953 > 1926 "body" ins1 ins2 8& " " & "Title ) -3) "_________________________" ) -2) c"copyright" "Copyright Umissing" "QUESTION:" xfound" "ANSWER:" " REMINDER " c"This Section" "Disclaimer ) = "down" buttondown N buttondown _________________________ _______________ copyright Copyright line missing Title line missing This Section Disclaimer line missing 0002100.tid pageTitle Complete Blood Count A Medical Times Patient Education Chart (C) Romaine Pierson Publishers, Inc. ___________________________ What Can the Blood Tests Tell? The tests done as part of a complete blood count (CBC) are useful in diagnosing some illnesses. The major ones are anemia (which is a shortage of red blood cells or of hemoglobin, the blood protein that carries oxygen) and leukemia (which is a type of cancer that causes abnormal increases in white blood cells). CBCs can also help track progress in treating diseases. The blood sample is usually taken from a vein in the arm, but may be drawn from the foot, finger, or ear. Your doctor will use the blood test results along with the results of your physical exam to diagnose a disease or assess your health. Test results will vary even in healthy people because of personal differences such as age and sex. The normal ranges given here are for adults. Although the measurement terms may be unfamiliar, they are used here so you can compare them with your own test results. The Red Blood Cell Count The number of red blood cells (RBCs) within the normal range varies from 3.6 to 5.4 million per cubic millimeter. The average for females is 4.5 million and for males 5 million. Too many RBCs might be a sign of lung disease or congestive heart failure, the inability of the heart to pump blood efficiently. Too few RBCs, a condition known as anemia, can be caused by bleeding, leukemia, kidney disease, hormone problems, and other chronic diseases. Radiation and drugs used to treat cancer and other conditions may damage the bone marrow, where RBCs are formed, and so prevent the formation of enough new RBCS. Hemoglobin: The Oxygen Carrier Hemoglobin is the red pigment in RBCs that binds with oxygen, so the amount of hemoglobin is a measure of how much oxygen the RBCs are capable of carrying to other cells. The normal levels range from 12 to 16 grams per deciliter for women and 13.5 to 18 for men. Low levels can result from inherited anemias, such as sickle cell anemia and thalassemia, or from anemias due to iron and vitamin deficiencies. The Hematocrit: Ratio of Red Blood Cells The hematocrit measures the percentage of blood volume made up of RBCs. The nominal ranges are 37% to 47% for women and 40% to 54% for men. Anemia, leukemia, blood loss, and kidney failure cause lower levels. Lung disease and loss of body fluids, such as that which occurs with severe burns, surgery, and shock, could result in higher percentages of RBCs. White Blood Cells: The Defense Team In normal adults, the total number of white blood cells ranges from 4,000 to 10,000 per cubic millimeter. Higher levels could be caused by infection, leukemia, acute bleeding, stress, and conditions that cause damage to the cells, such as heart attacks. Radiation, viral illness, and a weakened immune system are some of the causes of a decreased number of WBCs. Each of the five different types of white blood cells performs a special job in defending the body against bacteria and other harmful matter. The percentage of each type of WBC in the blood is measured by the differential count or "diff." (See front of chart for WBC types and normal ranges.) Neutrophils and monocytes are the cells most active against bacterial infections. Lymphocytes help produce antibodies that can inactivate harmful substances entering the body, including infectious agents. Eosinophils and basophils are involved in allergies. The Red Blood Cell Indices Three measurements, known as the red cell indices, can help your doctor identify the specific types of anemia. Knowing the type of anemia and its possible cause makes it possible to treat the disease appropriately. Complete Blood Count upt The Family Doctor III version 3.0 Creative MultiMedia media retains the copyright original elements --Portions are Asymetrix Corporation -- By Ted Spires -- Book: MAS11.TBK -- Updated HDavid Bleckmann 8/31/93 4cdRomDrive,idxPath,shandle,historyCount,historyList,IDstack,wavPath,backFlag,backIndex 4logo, customFonts, qtwAlias 4firstaidFile, firstaidPath, , firstaidAlias, moviePath -- try keep screen flashing on startup .globals FALSE qadditions "TBKQT" --setup Toolbook playback --Set up d, link DLL's, initialize toolbook dialog boxes "tbkmm.sbk" linkLibraries() setUpMenus() initDialogBoxes() --Setup finformation stored INI file iniInfo(iniFile --**CMC LOGO cmcDisplayBitmap("c:\cmclogo\ 5.bmp", playMovie( cmcRemoveBitmap("c:\ -- FirstAid Variables & "\ & "\movies\" memmory Search DLL. CMCOpen() -- Add font (used content AddFontResource( ) <> 2 "Error: can xload Iresource" floating toolbar ("FloatingToolBar") cmcShowToolBar( ,inifile -- Tell QTWVideo tbkMCIchk(" ", "", 1) WaveAudio", "", 1) --turn off feature; we will use own mechanism --unlock WinHelp( &"\fd3.hlp",2,0) -- windows help, RemoveFontResource(customfonts ("close ", "") QTFlag = -- unlinkDLL "qtdll. browse. 'tbkdlg. unLinkDLL "dispbmp. 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Synonyms Breda's Disease Charlouis' Disease Frambesia Pian (note: pian is not the same as pian bois or hemorrhagic pian: pian bois is a synonym for forest yaws, a form of leischmaniasis; hemorrhagic pian is the same as verruga peruana, one of the manifestations of bartonellosis) Parangi Bouba Note: "forest yaws" is not a form of yaws; it is a form of leischmaniasis - see note with "pian") DISORDER SUBDIVISIONS: Gangosa (also known as Ogo and Rhinopharyngitis Mutilans) Goundou (also known as Henpue or Henpuye, Gundo, and Anakhre) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Yaws is a usually nonvenereal infectious disease caused by an organism related to syphilis. Skin, and later, bone lesions characterize the disease. It is common among children in the humid tropics of Africa, South and Central America, the West Indies, and the Far East, but is rare in the United States. Antimicrobial therapy can cure the disease, although scars are permanent. Symptoms Yaws occurs in three stages. In the first, which occurs in young children, a tumor-like growth appears where the infectious organism is implanted, usually on the lower leg or foot. The lesion grows, develops a crust, and disappears over a period of several weeks, leaving a scar. The second stage follows several weeks or months later. New, smaller but more numerous growths appear on the face, legs and arms, and around the anus and genitals. These lesions heal slowly, sometimes with relapses. On the soles of the feet, they may become keratotic (thickened and hard), and develop painful cracks and ulcerations, a condition called "crab yaws". The third or tertiary stage of yaws occurs only in some cases. Several years after the appearance of the lesions characteristic of the second stage, destructive lesions of the skin and bone may develop. Skin lesions are soft and tumor-like, or ulcerative, and can cause disfigurement of the face. Bone lesions develop from inflammation of the sheath covering the bones (periostitis), and cause pain and deterioration of the bone, especially of the tibia (one of the shin bones). Painful and destructive nodules may appear around the joints. Goundou is a painless but marked symmetrical swelling at the sides of the nose due to benign growth of bone and cartilage due to periostitis. It is accompanied by headache and nasal discharge. It is a manifestation of tertiary yaws. Gangosa, also a common manifestation of tertiary yaws and related diseases, consists of destruction of the nose, the nasal part of the pharynx, and the hard palate. Causes Yaws is caused by a spirochete (a microorganism) called Treponema pertenue. This organism is related to and visually indistinguishable from those responsible for venereal syphilis, bejel (endemic syphilis), and pinta. (For more information, please see articles in the database on these related diseases.) The infection is usually transmitted by direct contact with open lesions. In some areas, certain species of flies may transmit the disease. In rare cases, individuals acquire the disease through sexual contact. Affected Population Yaws occurs primarily among children in the humid tropics of South and Central America, Africa, East Asia, and the West Indies. Related Disorders The treponematoses (yaws, bejel (endemic syphilis), pinta, and venereal syphilis) are all caused by identical looking spirochetal microorganisms known as treponemas. They differ in distribution, mode of transmission, and clinical characteristics and course. (For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: bejel, pinta, and syphilis.) Therapies: Standard Therapy for Yaws includes antimicrobial drugs such as benzathine penicillin G usually heal lesions and eliminate Treponema pertenue. Such drugs can also be used preventively in family members and others in frequent contact with patients. Disfigurement and scars are permanent, however. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Yaws, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1723. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 132. pagetitle 132: Yaws 04345.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 721: Yellow Fever _________________________ ** IMPORTANT ** It is possible that the main title of the article (Yellow Fever) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Bunyavirus Infection Information on the following diseases can be found in the Related Disorders section of this report: Dengue Fever Viral Encephalitis Malaria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Yellow Fever is a viral infection which causes damage to the liver, kidney, heart and gastrointestinal tract. Major symptoms may include sudden onset of fever, yellowing of the skin (jaundice) and hemorrhage. It occurs predominately in South America, the Caribbean Islands and Africa. The disease is spread through bites of infected mosquitos. Incidence of the disease tends to increase in the summer as the mosquito population increases, and it occurs year round in tropical climates. Yellow Fever has two cycles: the sylvan cycle in which mosquitos primarily spread the disease among forest-dwelling primates, and the urban cycle in which the infection is spread from human to human. Symptoms The symptoms of Yellow Fever are the sudden onset of fever and chills along with headache, backache, generalized pain, nausea, vomiting, flushed face and infection of the inner eyelid. The fever usually disappears after three days, reappearing several days later with new symptoms of jaundice, bleeding gums, soft palate hemorrhages, and the vomiting of blood (black vomit). The patient may go into shock during this phase. Yellow Fever may also appear in a mild form with symptoms resembling influenza, malaria, dengue fever or typhoid. In this case, the fever usually lasts less than one week. Causes Yellow Fever is caused by a virus spread by the bite by an infected mosquito. Initially, a mosquito acquires the disease by ingesting the blood of an infected host. The mosquito then transmits the infection to its next bite victim. Affected Population Yellow Fever affects males and females equally. People living in semitropical or tropical climates are at risk unless they are vaccinated against this infection. People in southern areas of the United States, living near marshes and swamps may be at risk during the summer months. Related Disorders Symptoms of the following disorders can be similar to those of Yellow Fever. Comparisons may be useful for a differential diagnosis: Dengue Fever is a disease also transmitted by a mosquito bite and characterized by a skin rash and a high fever with severe pain in the head and muscles. There is a sudden onset of symptoms with pain also occuring in the lower back, legs and joints. (For more information on this disorder, choose "Dengue Fever" as your search term in the Rare Disease Database). Viral Encephalitis is a disease characterized by fever, headache, vomiting, rigidity of the neck, lethargy and convulsions. Generalized muscular weakness and paralysis may also occur. Malaria is a communicable disorder also spread through the bite of a mosquito. Symptoms include chills and fever, although not every case follows the same pattern. Symptoms may begin a week after exposure to the mosquito or months later. (For more information of this disorder, choose "Malaria" as your search term in the Rare Disease Database). Therapies: Standard The treatment of Yellow Fever is symptomatic. Preventative measures consist of mosquito control and vaccination which prevents infection. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Yellow Fever, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road NE Atlanta, GA 30333 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1594-1599. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 120. YELLOW FEVER: A MEDICALLY NEGLECTED DISEASE. REPORT ON A SEMINAR. T.P. Monath; REV INFECT DIS 1987 Jan-Feb; 9(1):165-75. STUDIES ON YELLOW FEVER VACCINE. I. QUALITY CONTROL PARAMETERS. O. de Souza Lopes et al; J BIOL STAND 1987 Oct; 15940:323-9. Yellow Fever pagetitle 721: Yellow Fever 04346.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 834: Yellow Nail Syndrome _________________________ General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Yellow Nail Syndrome is characterized by yellow, thickened and curved nails with almost complete stoppage of nail growth. A loss of cuticles may also be associated with this syndrome. Loosening of the nails (onycholysis) may cause loss of some of the nails. Yellow Nail Syndrome is often associated with respiratory diseases and edema (fluid in the tissue causing swelling). Symptoms Yellow Nail Syndrome is characterized by slow growing, yellow, thickened nails with a loss of cuticles. The nails may become convex and loose. This condition is usually associated with plural effusion (fluid filled lungs) or lymphedema (fluid filled lymphatic vessels) of the extremities. Edema (swelling) of the legs as well as facial edema may also be present. Respiratory diseases such as bronchiectasis (chronic inflammation or degenerative condition of the bronchi and bronchioles), bronchitis (chronic inflammation of the bronchial tubes) and sinusitis (inflammation of the membrane lining the sinus) may also occur with Yellow Nail Syndrome. Causes The exact cause of Yellow Nail Syndrome is not known, but it is often associated with respiratory infections which indicates that the immune system may be involved. Affected Population Women may be afflicted with this syndrome more often than men and the onset varies from birth to the eighties. Therapies: Standard There is no known treatment for Yellow Nail Syndrome, but the nails may improve when the related disorder is treated. Therapies: Investigational This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Yellow Nail Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Blood and Lung Institute (NHBLI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2347. PULMONARY DISEASES and DISORDERS, 2nd Ed. Vol. 1: Alfred P. Fishman, M.D.; McGraw-Hill Book Company, 1988. Pp. 374. CLINICAL DERMATOLOGY, 2nd Ed.: Thomas P. Habif, M.D.; The C.V. Mosby Co., 1990. Pp. 632. PLURAL EFFUSION ASSOCIATED WITH PRIMARY LYMPHEDEMA: A PERSPECTIVE ON THE YELLOW NAIL SYNDROME: D.J. Beer, et al.; Am. Rev. Respir. Dis. (March, 1978, issue 117 (3). Pp. 595-599. YELLOW NAIL SYNDROME: G.P. Pavvlidakey, et al.; J. Am. Acad. Dermatol. (September, 1984, issue 11 (3)). Pp. 509-12. Yellow Nail Syndrome pagetitle 834: Yellow Nail Syndrome 04315.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 243: Vitiligo _________________________ ** IMPORTANT ** It is possible the main title of the article (Vitiligo) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Leukoderma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Vitiligo is a dermatological condition which is characterized by an absence of melanocytes (pigment-producing cells), causing decreased pigmentation in the skin. These symptoms can vary from one or two spots to generalized depigmentation of the entire body. Symptoms Vitiligo is characterized by spots on the skin with decreased pigmentation. These lesions are usually sharply demarcated with increased coloring (hyperpigmentation) on the borders, and are often symmetrical in shape. These areas most often appear on the face, neck, hands, abdomen, and thighs although they can occur on all parts of the skin. The hair in vitiliginous areas is usually white and the skin lesions appear white under a Wood's light. The lesions are prone to sunburn and should be protected from sunlight. Causes Vitiligo is sometimes familial, but the exact mode of heredity is not yet understood. This disorder may follow unusual trauma, especially to the head. Vitiligo has been associated with Addison's disease, diabetes mellitus, pernicious anemia, and abnormal thyroid function. An immunologic and neurochemical base to the disorder has been postulated. (For more information on these disorders, choose "Addison" and "Pernicious Anemia" as your search terms in the Rare Disease Database.) Recent scientific research at the National Institutes of Health indicates that Vitiligo is 10 to 15 times more common in patients with other diseases in which the body breaks down its own tissue (autoimmune diseases) such as pigment cell cancer (melanoma). This disorder has not previously been considered an autoimmune disease. While organ-specific antibodies have recently been detected in patients with the disease, the evidence that its destruction of pigment cells (melanocytes) has an immune basis had not been clear in prior research. Affected Population Onset of Vitiligo is usually before age 20 years. Therapies: Standard Small lesions of Vitiligo may be camouflaged with cosmetic creams. Para-aminobenzoic acid solution or gel gives protection against sunburn. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Vitiligo, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Frontier's International Vitiligo Foundation 4 Rozina Ct. Owings Mills, MD 21117 National Foundation for Vitiligo & Pigment Disorders 9032 South Normandy Dr. Centerville, OH 45459 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 2299. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2344-5. Vitiligo pagetitle 243: Vitiligo 04316.TXT )|)Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 393: Von Gierke Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Von Gierke Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Glycogen Storage Disease I Glycogenosis Type I Hepatorenal Glycogenosis DISORDER SUBDIVISIONS: Glycogenosis Type IA, also known as Glucose-6-Phosphatase Deficiency Glycogenosis Type IB, also known as Glucose-6-Phosphate Translocase Deficiency, and Glucose-6-Phosphate Transport Defect Information on the following disorders can be found in the Related Disorders section of this report: Forbes Disease Andersen Disease Hers Disease Glycogen Storage Disease VIII General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Von Gierke Disease is a glycogen storage disease. This hereditary metabolic disorder is caused by an inborn lack of the enzyme glucose-6-phosphatase. This enzyme is needed to convert the main carbohydrate storage material (glycogen) into sugar (glucose) which the body uses for its energy needs. A deficiency causes deposits of excess glycogen in the liver and kidney cells. Symptoms Symptoms of Von Gierke Disease usually begin during the first year of life. The disorder is characterized by persistent hunger, fatigue and irritability. These symptoms are especially noticeable in infants. Other symptoms include marked enlargement of the liver (hepatomegaly), weight loss and a slow growth rate. If food is withheld, a low blood sugar level (hypoglycemia) and an abnormally high level of acetone, aceto-acetic acid and beta-hydroxybutyric acid (also called ketones) may develop in the blood and body tissues. This is called ketosis. If the hypoglycemia is severe, patients may experience seizures. Children with Von Gierke Disease may bruise easily and may experience frequent nosebleeds. An increased level of cholesterol and fatty acids in the blood (lipidemia) may lead to yellow lipid deposits under the skin (xanthoma) in the joint areas of the arms and legs. Small spaces (vacuoles) filled with the main carbohydrate storage material (glycogen) may be seen microscopically in liver cells and throughout the kidneys. An excess of uric acid in the blood (hyperuricemia) may also occur. The course of the disorder can be severe at times. However, the symptoms tend to improve gradually with age. Causes Von Gierke Disease is inherited through autosomal recessive genes. This disorder is caused by a lack of the enzyme glucose-6-phosphatase. A deficiency causes excess amounts of glycogen to be stored in the body's tissues. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Von Gierke Disease and other glycogen storage disorders together affect about 1 in 40,000 persons in the United States. It affects males and females in equal numbers. Related Disorders Glycogen Storage Diseases are caused by inborn errors of metabolism in which the balance between stored energy (glycogen) and available energy (sugar or glucose) is disturbed. Too much glycogen tends to be stored in the liver and muscles and too little sugar is available in the blood. The following diseases are similar to Von Gierke Disease. Comparisons may be useful for a differential diagnosis: Forbes Disease (Glycogenosis III; Cori Disease) is another genetic glycogen storage disease. This disorder is caused by a lack of a debrancher (dextrin-1-6-glucosidase) enzyme. This enzyme deficiency causes excess amounts of glycogen to be deposited in the liver and muscles. The nerves in the back of the legs and on the sides of the heel and foot (sural nerves) also accumulate excess glycogen. The heart may be involved in some cases. Andersen Disease is a glycogen storage disease inherited through recessive genes. Symptoms of this disorder are caused by a lack of a brancher enzyme amylo transglucosidase. The lack of this enzyme causes an abnormality in the structure of the main carbohydrate storage material (glycogen). Andersen Disease is characterized by scarring of the liver (cirrhosis) which may lead to liver failure. Hers Disease is a mild genetic form of glycogen storage disease. The disorder is caused by a deficiency of the enzyme liver phosphorylase. Hers Disease is characterized by enlargement of the liver (hepatomegaly), moderately low blood sugar (hypoglycemia), elevated levels of acetone and other ketone bodies in the blood (ketosis), and moderate growth retardation. Symptoms are not always evident during childhood. Children may be able to lead normal lives. In other cases, severe symptoms may be present. Glycogen Storage Disease VIII is a sex-linked genetic disorder caused by a deficiency of the enzyme liver phosphorylase kinase. The disorder is characterized by slightly low blood sugar (hypoglycemia). Excess amounts of glycogen (the stored form of energy that comes from carbohydrates) are deposited in the liver, causing enlargement of the liver (hepatomegaly). For more information on the above disorders, choose "Forbes," "Anderson," "Hers," and "Glycogen Storage Disease VIII" as your search terms in the Rare Disease Database. Therapies: Standard Diagnosis of Von Gierke Disease may be confirmed by tests that measure the body's reaction to sugar when it is added to the blood stream (glucose test), a test that measures the body's reaction to glucagon (glucagon tolerance test). Treatment of Von Gierke Disease is aimed at prevention of low blood sugar (hypoglycemia) and ketosis through a carefully controlled diet. Frequent small servings of carbohydrates and a high protein diet during the day must be maintained throughout life. At night continuous tube feeding of food solutions such as Vivonex may be administered to promote normal childhood growth. The uric acid concentration in the blood must be carefully monitored to prevent gouty arthritis during adolescence or adulthood. Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like arthritis during the adolescent years. Recently the use of cornstarch as an overnight feeding, one cup of cornstarch before bed, has shown great promise. Not only does this procedure eliminate other forms of feeding throught the night, but it has improved blood levels of glucose and lowered amino acid asnd phosphate loss. It has been documented that this treatment has shown an increased growth of some patients and a decrease in damage to the kidney's proximal tubules. Genetic counseling can be helpful for families of children with Von Gierke Disease and other Glycogen Storage Diseases. Although the disorder is not curable it is treatable with appropriate medication, diet control and monitoring to prevent complications. Therapies: Investigational Dr. Yuan-Tsong Chen, M.D., Ph.D. of Duke University, Durham, NC, was awarded a grant in 1988 by the Orphan Products Division for his work using cornstarch as a treatment for Von Gierke Disease (Type I Glycogen Storage Disease). Dr. Y.T. Chen at Duke University Medical Center, at the request of the Glycogen Storage Disease Association, is collecting DNA from patients with Glycogen Storage Disease Type I to form a DNA bank for GSDI. Interested patients may contact the Glycogen Storage Diseases Association for further information. The address and phone number of the organization are listed in the Resources section of this report. This disease entry is based upon medical information available through May 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Von Gierke Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Glycogen Storage Diseases Box 896 Durant, IA 52747 (319) 785-6038 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References OPTIMAL RATE OF ENTERAL GLUCOSE ADMINISTRATION IN CHILDREN WITH GLYCOGEN STORAGE DISEASE TYPE I: W.F. Schwenk, et al.; New England Journal of Medicine (March 13, 1986: issue 314,11). Pp. 682-685. GLYCOGEN STORAGE DISEASE TYPE I. RESULTS OF TREATMENT WITH FREQUENT DAYTIME FEEDING, COMBINED WITH NOCTURNAL INTRAGASTRIC FEEDING AND WITH ADMINISTRATION OF AN ALPHA-GLUCOSIDASE INHIBITOR: H. Grube, et al.; European Journal of Pediatrics (April 1983: issue 140,2). Pp. 102-104. Von Gierke Disease *pagetitle 393: Von Gierke Disease 04317.TXT 'Copyright (C) 1986, 1988, 1989, 1990, 1991 National Organization for Rare Disorders, Inc. 181: Von Hippel-Lindau Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (von Hippel-Lindau Disease) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Lindau's Disease Hippel's Disease Retinocerebral Angiomatosis Cerebelloretinal Hemangioblastomatosis Angiomatosis Retina Angiophakomatosis Retinae et Cerebelli Hippel-Lindau Disease Cerebellum, Hemangioblastoma Information on the following diseases can be found in the Related Disorders section of this report: Neurofibromatosis (von Recklinghausen's Disease) Sturge-Weber Syndrome Tuberous Sclerosis Pheochromocytoma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Von Hippel-Lindau Disease a hereditary disorder characterized by multiple focal tissue malformations called hamartomas. These growths may be found in the retina, brain (occasionally extending to the spinal cord), kidneys, adrenal glands, and other organs. Symptoms may include headaches, dizziness and failure of muscular coordination (ataxia). Chronic high blood pressure may also be present. This disorder tends to run in families, and symptoms may vary. Symptoms Von Hippel-Lindau Disease usually begins during young adulthood but may appear as early as the age of eight. The disorder is characterized by headaches, dizziness and failure of muscular coordination (ataxia). Unreasonable behavior may also occur. Eye examinations reveal enlarged and twisted blood vessels in the retina. Bulges in the blood vessels (aneurysms) may develop in these retinal vessels which may form a tumor (angioma) that resembles a balloon. Benign tumors (pheochromocytomas) of the adrenal glands may be present as well, causing chronic high blood pressure, pounding heartbeat, headache, cold hands and feet, and excessive sweating. After a certain age, the high blood pressure may return to normal. Subretinal yellow spots as well as star-shaped material may be seen on the retina when examined with an ophthalmoscope. Blood tests may show an increase of red cell mass (polycythemia). Neurological (Brain) changes, detachment of the retina, glaucoma (high pressure in the eyes) blindness and kidney problems may also occur. Causes Von Hippel-Lindau Disease is an autosomal dominant genetic disorder with various forms. Scientists believe they have located the gene that causes Von-Hippel Lindau Disease on chromosome number 3. Thus affected people may have a mild, moderate, or severe form of the disease depending upon the degree to which the gene affects the patient. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Tumors of the retina may be associated with benign, slowly growing tumors of the brain (hemangioblastomas) usually in the cerebellum. Other parts of the central nervous system such as the medulla, brain stem or the spinal cord are rarely affected. Affected Population Von Hippel-Lindau Disease affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of von Hippel-Lindau Disease. Comparisons may be useful for a differential diagnosis: Neurofibromatosis (von Recklinghausen Disease) is a genetic disorder with highly variable manifestations which can affect many body systems. The disease is characterized by multiple nerve tumors under the skin which can result in disfigurement, and other complications. (For more information on this disorder, choose "Neurofibromatosis " as your search term in the Rare Disease Database). Sturge-Weber Syndrome is an inherited disorder in which a port-wine colored stain (angioma) on the face and intracranial abnormalities are present at birth. Generalized seizures usually occur between one and two years of age, with additional neurologic symptoms. Glaucoma of the eye on the affected side and defective vision may also occur. (For more information on this disorder, choose "Sturge-Weber Syndrome " as your search term in the Rare Disease Database). Tuberous Sclerosis is a disorder associated with benign tumors of the brain, skin lesions and occasionally involvement of other internal organs. It is most often characterized by two neurologic symptoms-epileptic seizures and varying degrees of mental retardation. (For more information on this disorder, Choose "Tuberous Sclerosis" as your search term in the Rare Disease Database). The following disorder may be associated with von Hippel-Lindau Disease as a secondary characteristic. It is not necessary for a differential diagnosis: Pheochromocytoma is a tumor usually found in the marrow (medulla) of the adrenal gland. The tumor secretes hormones, which may cause high blood pressure. Attacks of pounding heartbeat and severe headache can occur, or the blood pressure may be chronically elevated. Cooler than normal hands and feet, unusual facial paleness, and excessive sweating also occur. Patients usually experience marked anxiety, severe nausea, vomiting, visual disturbances, and chest or abdominal pain. Unusual sensations (paresthesias) or seizures can also occur. The tumors affect males and females equally, and they are usually benign. Early detection is important, and surgical removal of the tumor usually halts the symptoms of Pheochromocytoma. The National Institutes of Health has a clinical screening for persons from families with von Hippel-Lindau Disease. There is no cost to the patients for examination or travel. For further information, please contact: Dr. Berton Zbar Laboratory of Immunobiology Bldg. 560, Rm. 12-17 National Cancer Institute Frederick, MD 21701 Therapies: Standard There are two different ways to treat von Hippel-Lindau Disease: Vascular lesions in the retina can be destroyed by an intense light beam (laser) and cryotherapy (the use of cold in treatment). These therapies all appear to be effective in lesions smaller than 2.5cc. Larger lesions respond best to cryotherapy. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Drs. Gary Skuse and Peter Rowley of the Division of Genetics, University of Rochester School of Medicine, are analyzing the role of oncogenes in tumors from people with von Hippel-Lindau Disease. They request that they be notified of surgery for tumors in this condition as soon as it is scheduled so that arrangements can be made to receive tissue samples. Please call Dr. Rowley, Dr. Skuse, or Barbara Kosciolek at (716) 275-3461. This disease entry is based upon medical information available through November 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on von Hippel-Lindau Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Von Hippel-Lindau Syndrome Foundation P.O. Box 733 Toms River, NJ 08754-0733 (908) 244-7635 VHL Family Forum 171 Clinton Rd. Brookline, MA 02146 (617) 232-5946 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 NIH/National Eye Institute (NEI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5583 Gary R. Skuse, Ph.D. University of Rochester Medical Center Division of Genetics 601 Elwood Center, Box 4641 Rochester, NY 14641 Eye Research Institute 20 Staniford St. Boston, MA 02114 (617) 742-3140 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References FAMILIAL PHEOCHROMOCYTOMA, HYPERCALCEMIA, AND VON HIPPEL-LINDAU DISEASE, A TEN YEAR STUDY OF A LARGE FAMILY, N. O. Atuk, et al.; Dept. of Internal Med. U. of VA, Medicine (vol. 58 (3) ). Pp. 209-218. Von Hippel-Lindau Disease )pagetitle 181: Von Hippel-Lindau Disease 04318.TXT -Copyright (C) 1987, 1988, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 375: Von Willebrand Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Von Willebrand Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Angiohemophilia Vascular Hemophilia Minot-Von Willebrand Disease Pseudohemophilia Constitutional Thrombopathy Willebrand-Juergens Disease Information on the following disease can be found in the Related Disorders section of this report: Hemophilia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Von Willebrand Disease is a hereditary blood clotting disorder characterized by prolonged bleeding. Blood clotting is slowed due to a deficiency of the Von Willebrand factor protein and factor VIII protein (the factor VIII complex). Also, platelets do not stick normally causing excessively slow clotting time. Increased risk of excessive bleeding following surgery, dental procedures or injury occurs in patients with this disorder. With proper treatment and appropriate precautions, few patients become seriously handicapped by Von Willebrand Disease. The tendency to prolonged bleeding usually decreases with age. Symptoms Patients with Von Willebrand Disease tend to experience prolonged bleeding, usually of the gastrointestinal tract or nosebleeds (epistaxis). People with this disorder tend to bruise easily and bleed excessively following injuries, surgery, menstruation and/or childbirth. Very rarely, internal bleeding into joints may also occur. Causes Von Willebrand Disease is usually inherited as a dominant trait. Decreased production of the Von Willebrand factor protein and blood factor VIII (the factor VIII complex), combined with a blood platelet abnormality does not allow the blood to coagulate properly, causing excessive bleeding. A severe form of Von Willebrand Disease has recently been identified; this type of the disorder can be inherited as either a recessive or a dominant trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. A disorder similar to Von Willebrand Disease which may be acquired during later adult life has also been recently identified. This disorder is caused by over-production of an antibody that destroys the Von Willebrand factor protein. Von Willebrand Disease can also be acquired in association with other diseases including certain kidney diseases, a type of Leukemia, or congenital heart disease involving an abnormal heart valve. Von Willebrand Disease differs from the better known bleeding disorder Hemophilia because it affects both sexes. Persons with Hemophilia have deficiencies of the factor VIII protein with normal amounts of the Von Willebrand factor protein. No platelet abnormality is found in Hemophilia patients. Affected Population Von Willebrand Disease usually begins in infancy or early childhood. This disorder seems to affect females more than males, although both can be affected. Some forms can be acquired during adulthood due to non-genetic causes. Related Disorders Hemophilia is a blood clotting disorder inherited as an X-linked recessive trait. Symptoms are caused by deficiencies of blood clotting factor VIII protein. Hemophilia affects males exclusively and the degree of severity is determined by the percentage of normal active clotting factor in the blood. Persons with severe hemophilia usually have less than 1% of the normal levels of active clotting factor present in their blood. The general term "Hemophilia" includes Hemophilia A (Classical Hemophilia, Factor VIII deficiency), and Hemophilia B (Christmas Disease, Factor IX deficiency). (For more information on this disorder, choose "hemophilia" as your search term in the Rare Disease Database.) Hemophilia and Von Willebrand Disease are inherited through different modes of transmission; Hemophilia is caused by an x-linked recessive gene whereas Von Willebrand is usually caused by one dominant gene. Other rare blood clotting disorders may have similar symptoms but may not be classified as types of hemophilia due to different modes of inheritance, transmission and different blood clotting factors involved. Therapies: Standard Patients with Von Willebrand Disease should take special precautions before any surgical procedure, after an accident or unexplained bleeding. Blood or blood plasma transfusions before surgery or childbirth can reduce the risk of hemorrhage. Transfusions of intravenous (frozen or stored) blood plasma can elevate factor VIII protein and the Von Willebrand factor protein thus allowing blood to clot properly. Transfusions of whole blood can also raise the level of these factors and improve clotting ability. Some patients with mild cases of Von Willebrand Disease have undergone surgical procedures with daily dosages of the drug Desmopressin Acetate (DDAVP). This is a synthetic agent which can be used as a substitute for blood products. It can stimulate the release of the factor VIII complex molecules from cells lining blood vessels thereby shortening clotting time. In some cases, additional treatment with cryoprecipitates (frozen blood products) may be required to control excess bleeding. Careful monitoring of dosages is recommended to avoid other complications. An injectable form of DDAVP, an antidiuretic peptide, is manufactured by Rorer Pharmaceutical, Corp., Ft. Washington, PA. Cryoprecipitates (frozen blood products) remain the best way to replace the factor VIII complex especially in severe cases of Von Willebrand Disease. Careful medical supervision of dosages is also necessary with this treatment. The antifibrinolytic drug, aminocaproic acid (amicar) can aid in reducing bleeding. Individuals with Von Willebrand Disease should wear some type of identification such as the Medic-Alert bracelet. Emergency information should include directions to treat bleeding with Desmopressin Acetate (DDAVP) or cryoprecipitates. People affected by this disorder should avoid aspirin and drugs that prolong bleeding. Activities that are likely to be associated with injuries should be avoided. Genetic counseling can be helpful to families and patients. Therapies: Investigational The FDA has approved the following orphan drug for testing as treatment for Von Willebrand patients: Antihemophilic Factor, Human (Humate P) Manufactured by: Behringwerke Aktiengesellschaft 500 Arcola Rd. P.O. Box 1200 Collegeville, PA 19426-0107 A form of Desmopressin Acetate (DDAVP) administered through the nose (intranasally) is being studied as a possible treatment for Von Willebrand Disease. The Food and Drug Administration (FDA) has awarded a research grant to Marjorie Read, Ph.D., University of North Carolina, Chapel Hill, NC, for studies on coagglutinin as a treatment for von Willebrand Disease. The orphan drug was approved for testing by the FDA and is manufactured by Rorer Pharmaceutical Corp., Ft. Washington, PA. The FDA has approved the following drug for testing as treatment for Von Willebrand Disease patients: The orphan drug NovoSeven (factor VIIa) (recombinant DNA origin)) is being tested for treatment of patients without antibodies against factor VIII/IX by Novo-Nordisk A/S, Copenhagen, Denmark. For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Von Willebrand Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Although Von Willebrand Disease is not a form of Hemophilia, National Health Agencies providing information, referrals and support groups for Von Willebrand Disease are organizations that are primarily concerned with Hemophilia: National Hemophilia Foundation 19 W. 34th Street New York, NY 10001 (212) 563-0211 (Supplies lists of Hemophilia centers throughout the country). Canadian Hemophilia Society, National Office 100 King Street West, Suite 210 Hamilton, Ontario L8P 1A2 Canada (416) 523-6414 World Federation of Hemophilia Suite 1517 1155 Dorchester Blvd. West Montreal, Quebec H3B 2L3 Canada (514) 866-0442 The Haemophilia Society P.O. Box 9 16 Trinity Street London SE1 1DE England 01-407-1010 For more information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References A HUMAN MYELOMA-PRODUCED MONOCLONAL PROTEIN DIRECTED AGAINST THE ACTIVE SUBPOPULATION OF VON WILLEBRAND FACTOR: E.G. Bovill, et al.; Am J Clin Pathol (Jan. 1986, issue 85(1)). Pp. 115-123. VON WILLEBRAND'S DISEASE AND PREGNANCY: MANAGEMENT DURING DELIVERY AND OUTCOME OF OFFSPRING: J.R. Chediak, et. al.; Am J Obstet Gynecol (Sept. 1986, issue 155(3)). Pp. 618-624. VON WILLEBRAND SYNDROME: I. Scharrer; Behring Inst Mitt (Feb. 1986, issue 79). Pp. 12-23. NASAL SPRAY DESMOPRESSIN (DDAVP) FOR MILD HEMOPHILIA A AND VON WILLEBRAND DISEASE, E.H. Rose, et al., Ann Intern Med, (April 1, 1991, issue 114). Pp. 563-568. Von Willebrand Disease .pagetitle 375: Von Willebrand Disease 04319.TXT @)-)Copyright (C) 1990 National Organization for Rare Disorders, Inc. 761: Vulvovaginitis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Vulvovaginitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Vaginitis Nonspecific Vaginitis Vaginitis, Garderella Vaginalis Vaginitis, Haemophilus Vaginalis Trichomoniasis Genital Candidiasis Yeast Infection Bacterial Vaginitis Information on the following diseases can be found in the Related Disorders section of this report: Chlamydia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Vulvovaginitis is a common bacterial infection characterized by the simultaneous inflammation of the external parts of the female genital organs (vulva) and the canal that leads from the uterus to the external opening (vagina). It is one of the most frequent causes of genital symptoms in women. When only the vagina is inflamed, the disorder is called vaginitis. The symptoms and treatments of Vulvovaginitis depend on the specific bacteria that caused the disorder. The most common types of vulvovaginitis are Genital Candidiasis (also called Yeast Infection), Trichomoniasis, and Nonspecific Vaginitis (also called Haemophilus Vaginalis Vaginitis, Bacterial Vaginitis or Garderella Vaginalis Vaginitis). Some types of vulvovaginitis are rarer than others. Vulvovaginitis occurs when the normal acid/alkaline balance of the vagina is disturbed. Yeast, fungi and other harmful organisms which are normally present may grow in excessive amounts causing infection of the vaginal walls. Symptoms The symptoms of Genital Candidiasis may include moderate to severe itching (pruritus) or burning of the vaginal area, difficult or painful urination (dysuria) and a thick discharge which may resemble cottage cheese. More rarely, there is a thin, watery discharge. Symptoms usually increase during the week before the menstrual period. Approximately 10% of the male sexual partners of infected women may develop symptoms such as abnormal redness and itching of the penis. (For more information, choose "Candidiasis" as your search term in the Rare Disease Database.) Symptoms of Trichomoniasis type of Vulvovaginitis may include severe itching and a thin, frothy, offensive smelling discharge. There is usually inflammation of the vulva, and painful, difficult urination. Symptoms usually begin or become worse during or immediately after the menstrual period. Some women do not show symptoms for six months after infection has begun. Trichomoniasis bacteria can be isolated in 30% to 70% of the male sexual partners of infected women. Most men show no symptoms, but should be treated to stop transmission to their female sexual partners. Women with Nonspecific Vaginitis usually have a light discharge which may contain bubbles and have a "fishy" odor. Initially, there is little inflammation of the vulva and three-quarters of infected women will show no symptoms. Symptoms of Nonspecific Vaginitis are not related to the stages of the menstrual cycle. Later symptoms may include inflammation of the vulva, itching or burning of the vaginal area, and painful or difficult sexual intercourse (dyspareunia). Causes Vulvovaginitis may occur as a result of a disturbance in the normal balance of acidity and alkalinity in the vagina. This allows bacteria, yeast or other harmful organisms to grow. Factors which may increase susceptibility to these infections are birth control pills, pregnancy, poor diet, antibiotics, frequent douching with chemical products, deodorant sprays, laundry soaps, fabric softeners and bath water additives. Tight, nonporous, nonabsorbent underclothing which does not provide adequate ventilation to the area, along with poor hygiene may increase the growth of bacteria and fungi. Sensitivity to spermicides, sexual lubricants or latex on a diaphragm or condom may also cause irritation and disturb the natural balance. Certain forms of Vulvovaginitis may be transmitted sexually. More rarely, vaginal infection may be the result of foreign bodies, a viral infection such as herpes, pinworm or tumors of the reproductive tract. Genital Candidiasis (Yeast Infection) is caused by the fungus Candida. Antibiotics taken for infection elsewhere in the body may reduce the normal bacterial content of the vagina, allowing yeasts to overgrow. Women on oral contraceptives are more susceptible to vaginal infections since hormonal changes may also upset the natural balance between bacteria and yeast in the vagina. Genital Candidiasis is rarely transmitted by sexual relations. (For more information on this disorder, choose the term "Candidiasis" for your search term in the Rare Disease Database.) Trichomoniasis is caused by the parasitic protozoa Trichomonas Vaginalis, and is usually transmitted by sexual intercourse. Occasionally Trichomoniasis may be transmitted nonsexually since Trichomonas can survive for several hours on wet surfaces. Contact with infected moist objects such as towels, bathing suits, underwear, washcloths, toilet seats and locker room benches may result in this type of Vulvovaginitis. Nonspecific Vaginitis can be caused by the bacteria Haemophilus Vaginalis or Garderella Vaginalis. Nonspecific Vaginitis is commonly transmitted by sexual intercourse. Affected Population Vulvovaginitis occurs most commonly in women during their reproductive years. Genital Candidiasis occurs frequently in pregnant and diabetic women. Certain types of Vulvovaginitis may be contracted through sexual intercourse and in turn spread to sexual partners. Related Disorders Symptoms of the following disorder can be similar to those of Vulvovaginitis. A comparison may be useful for a differential diagnosis: Chlamydia is a common sexually transmitted infection which results in inflammation of the tube that conducts urine from the bladder to the outside of the body (urethra). It is characterized by vaginal discharge and pain on urination. Chlamydial Infection is also common in men who get it from their sexual partners. (For more information of this disorder, choose "Chlamydia" as your search term in the Rare Disease Database.) Therapies: Standard Women with Genital Candidiasis are usually successfully treated with a local antifungal imidazole drugs, (e.g., miconazole). Polyene drugs (i.e., nystatin) are also commonly prescribed. Treatment may be in the form of vaginal suppositories, creams or powders. Recurrence is frequently a problem, and those who suffer from repeated infections may need to avoid the use of antibiotics. Switching to a lower dosage oral contraceptive may also be helpful to these individuals. Eating yogurt may help in prevention of yeast infections since it contains harmless bacteria which may help restore the acid/alkaline balance in the vagina. Men with Candidiasis infection may be treated by a topical anticandidal medication. (For more information on this disorder, choose "Candidiasis" as your search term in the Rare Disease Database). The Trichomoniasis type of Vulvovaginitis is usually treated orally with the drug Metronidazole. Clotrimazole may also be prescribed for intravaginal use. Douching with an acidic preparation may be recommended by some physicians. Infected individuals of both sexes are usually advised to abstain from sexual intercourse until the infection is cured. Nonspecific Vaginitis is also treated with the drug Metronidazole. Vaginal suppositories and propionic acid jelly are also commonly prescribed. Pregnant women are occasionally treated with Ampicillin. Approximately 25% of infected individuals will have recurrences requiring treatment. Initial treatment of infected women need not involve treatment of their sexual partners. However simultaneous treatment of their sexual partners is usually encouraged for women with recurrent infections. Sexual intercourse is usually not recommended until the infection clears. There are numerous precautions suggested to avoid vaginal infections. Women should be reminded to keep the external genitalia clean, and dry the area carefully after bathing; avoid irritating sprays and soaps; wear cotton instead of polyester underwear; avoid pants that are tight in the crotch and thighs; change tampons frequently; and make sure that sexual partners are free of infections and receive proper therapy when indicated. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Vulvovaginitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Social Health Network 100 Capitola Dr., Suite 200 Research Triangle Park, NC 27713 (919) 361-8400 National Sexually Transmitted Diseases Hotline (800) 227-8922 Council for Sex Information and Education 444 Lincoln Blvd., Suite 107 Venice, CA 90291 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1528-1529. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1705-1708. ANTIMICROBIAL EFFECTS OF NIRIDAZOLE ON GARDNERELLA VAGINALIS. R.M. Bannatyne et al.; INFECTION (Mar-Apr 1987; 15(2):128). THE ROLE OF BENZYDAMINE IN THE TOPICAL TREATMENT OF THE SO-CALLED NON- SPECIFIC VAGINITIS. E.M. Magliano et al.; INT J TISSUE REACT (1987; 9(2):151-6). Vulvovaginitis=* @*pagetitle 761: Vulvovaginitis 04320.TXT $Copyright (C) 1987, 1988, 1989, 1993 National Organization for Rare Disorders, Inc. 430: Waardenburg Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Waardenburg Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Klein-Waardenburg Syndrome Mende Syndrome Ptosis-Epicanthus Syndrome Van der Hoeve-Halbertsma-Waardenburg-Gualdi Syndrome Waardenburg-Klein Syndrome DISORDER SUBDIVISIONS Waardenburg Syndrome Type I Waardenburg Syndrome Type II The following disorders may be found in the Related Disorders section of this report: Cutaneous Albinism and Deafness Cutaneous Albinism without Deafness Harada Syndrome Vogt-Koyanagi Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Waardenburg Syndrome is a hereditary disorder characterized by facial abnormalities. The inner folds of the eyelids or the tear duct may be displaced, congenital nerve deafness may occur, and often abnormal pigmentation of the iris of the eye, the skin, and/or the hair may be present. Type I of this disorder is characterized by displacement of the fold of the eyelid, while type II does not include this feature. However, the frequency of deafness is higher in type II of the disorder. Symptoms Common symptoms of Waardenburg Syndrome include displacement of the inner folds of the eyelids, prominence of the nose, and overdevelopment of the eyebrows. The patient may have two different colored eyes or two colors in one iris. Congenital nerve deafness may also occur. A white forelock or early graying of the hair characterizes this disorder. The white forelock may disappear by age 3 months and return later in childhood. Other clinical findings include a thin nose with flaring nostrils, a "cupid bow" configuration of the lips, wide-set eyes, inflammation of the tear sac (dacryocystitis), and drooping of the upper eyelid (ptosis), lack of an indent between the nose and the forehead, a prominent lower jaw, a cleft or high-arched palate, patches of skin without pigment (vitiligo), and minor skeletal abnormalities may also occur. Marked degeneration of the nerve cells and blood vessels within the cochlea of the middle ear (in the so-called organ of Corti) may cause nerve deafness. (For more information, choose "Vitiligo" as your search term in the Rare Disease Database.) Causes Waardenburg Syndrome is a disorder inherited through dominant genes with variable penetrance. Within a family, all degrees of severity, from mild to severe, may be encountered. Alterations in PAX3, a gene found on chromosome 2, are responsible for the disorder. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Variable penetrance means that manifestations of a particular disease may not be present in all those who inherit the defective gene. Affected Population Waardenburg Syndrome occurs in 1 out of 4,000 live births. It affects males and females in equal numbers. Related Disorders The following disorders have symptoms similar to those of Waardenburg Syndrome. Comparisons may be useful for a differential diagnosis: Albinism (Congenital Achromia; Hypopigmentation) is a group of syndromes characterized by the congenital absence of pigment in the skin, hair, and eyes, associated with other eye abnormalities. Usually eye pigmentation is affected without other facial abnormalities, although in some cases deafness may occur. (For more information on this disorder, choose "Albinism" as your search term in the Rare Disease Database.) Vogt-Koyanagi Syndrome (Uveo-oto-cutaneous Syndrome) is a disorder characterized by symmetric white streaks in the hair. Streaks of no pigment may also appear on the hands, face, neck, and trunk (vitiligo). Premature graying of the hair, baldness, hearing impairment and tinnitus, bilateral inflammation of the iris and the lens (uveitis), and inflammation of the retina (retinitis) may occur. The Harada Syndrome is similar to the Vogt-Koyanagi Syndrome, except for a possible absence of the skin and hair symptoms. The Harada Syndrome and the Vogt-Koyanagi Syndrome affect mostly persons of Oriental heritage. Hair and skin lesions may disappear with time, and hearing and vision may recover spontaneously (partially) in the Harada Syndrome. Vitiligo is a dermatological condition characterized by an absence of melanocytes (pigment-producing cells), causing decreased pigmentation in the skin. These symptoms can vary from one or two spots to generalized depigmentation of the entire body. (For more information on this disorder, choose "vitiligo" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Waardenburg Syndrome is symptomatic and supportive. A hearing aid, learning sign language and lip-reading techniques, and special schooling may be helpful. Surgical repair of cleft palate may also be necessary. Genetic counseling may be helpful to families of children with Waardenburg Syndrome. Therapies: Investigational This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Waardenburg Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 1-800-535-3643 FACES National Association for the Craniofacially Handicapped Chattanooga, TN 37404 (615) 266-1632 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Craniofacial Family Association 170 Elizabeth Street, Suite 650 Toronto, Ontario M5G1X8 Canada Alexander Graham Bell Association for the Deaf 3417 Volta Place, NW Washington, DC 20007 (202) 337-5220 National Crisis Center for the Deaf University of Virginia Medical Center Charlottesville, VA 22908 (800) 466-9876 (Voice/TDD) Self-Help for Hard of Hearing People, Inc. (SHHH) 7800 Wisconsin Avenue Bethesda, MD 20814 (301) 657-2248 National Information Center on Deafness Gallaudet College Kendall Green Washington, DC 20002 (Voice & TDD) (202) 651-5109 National Association of the Deaf 814 Thayer Avenue Silver Spring, MD 20910 (301) 587-1788 Eye Research Institute of Retina Foundation 20 Staniford St. Boston, MA 02114 (617) 742-3140 National Federation of the Blind 1800 Johnson Street Baltimore, MD 21230 (301) 659-9314 American Council of the Blind (ACB) 1211 Connecticut Ave., N.W., Suite 506 Washington, DC 20036 (202) 833-1251 (800) 424-8666 National Organization for Albinism and Hypopigmentation (NOAH) 919 Walnut Street, Room 400 Philadelphia, PA 19107 (215) 545-2322 National Vitiligo Foundation P.O. Box 6337 Tyler, TX 75711 (214) 561-4700 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References WAARDENBURG SYNDROME IN SOUTH AFRICA. PART I. AN EVALUATION OF THE CLINICAL FINDINGS IN 11 FAMILIES: M. de Saxe, et al.; South African Med J (August 18, 1984: issue 66,7). Pp. 256-261. WAARDENBURG SYNDROME IN SOUTH AFRICA. PART II: IS THERE FOUNDER EFFECT FOR TYPE I?: M. de Saxe, et al.; South African Med J (August 25, 1984: issue 66,8). Pp. 291-293. POSSIBLE WAARDENBURG SYNDROME WITH GASTROINTESTINAL ANOMALIES: J. Nutman, et al.; Journal Med Genet (April 1986: issue 23,2). Pp. 175-178. Waardenburg Syndrome %pagetitle 430: Waardenburg Syndrome 04321.TXT Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc. 513: Waldenstrom Macroglobulinemia _________________________ ** IMPORTANT ** It is possible the main title of the article (Waldenstrom Macroglobulinemia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Waldenstroem's Macroglobulinemia Hyperglobulinemic Purpura Macroglobulinemia Waldenstrom's Syndrome Waldenstrom's Purpura Information on the following disorder can be found in the Related Disorders section of this report: Lymphocytic Leukemia, Chronic General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Waldenstrom Macroglobulinemia is a malignant lymph and blood cell disorder. Large quantities of homogeneous immunoglobulin-M (IgM) protein molecules are present in the blood. The disorder tends to run in families, occurring mainly among older males. An enlarged spleen and liver with abnormalities of the peripheral lymph glands are the most frequent symptoms. Weakness, anemia, fatigue and excessive bleeding, especially from the nose and mouth, also occur. Symptoms Symptoms of Waldenstrom Macroglobulinemia usually begin gradually. The disorder is characterized by anemia, weakness, fatigue, and excessive bleeding from the nose and mouth. Lack of appetite (anorexia) may also occur. Paleness, mild enlargement of the spleen (splenomegaly) and liver (hepatomegaly), and abnormalities of the peripheral lymph glands are the most frequent features of Waldenstrom Macroglobulinemia. Lesions of the retina, accompanied by localized bleeding, fluid oozing from retinal blood vessels (exudation), and blockage of these veins may be the most noticeable features. Blurring or other vision impairment affects approximately one third of persons with this disorder. Disturbances in the peripheral nervous system may be the initial symptoms which usually involve both sensory and motor nerves (which stimulate muscle contractions). Sudden hearing loss, progressive spinal muscle wasting (atrophy), and multifocal disease of the white brain matter (leukoencephalopathy) may occur in some cases of Waldenstrom Macroglobulinemia. Diffuse infiltrates or isolated masses of lymph cells may occur in the lungs, or fluid may appear in the space between the lungs and their surrounding membrane resulting in breathing difficulty. A mild to moderate increase of urea in the blood (azotemia) occurs in approximately 20% of cases. This is often associated with "thickening" (dehydration and/or hyperviscosity) of the blood. Kidney failure may occur in rare cases. The accumulation of amyloid, an abnormal glycoprotein, in almost any organ system (systemic amyloidosis) may cause dysfunction in some cases. Causes Waldenstrom Macroglobulinemia is an autosomal dominant disorder. Symptoms are caused by an abnormal condition of the blood and lymph cells responsible for synthesis of gamma M macroglobulins. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Waldenstrom Macroglobulinemia is a rare disorder more common among males than females. Symptoms usually begin between 60 and 70 years of age. Related Disorders Symptoms of the following disorder can be similar to those of Waldenstrom Macroglobulinemia. Comparisons may be useful for a differential diagnosis: Chronic Lymphocytic Leukemia is the most common type of Leukemia in people over 50 years of age. It is characterized by fatigue, weight loss, repeated infections and enlarged lymph nodes. Small, well-separated, movable, hard nodes usually occur. The number of lymph cells in the peripheral blood and bone marrow is chronically elevated. In the advanced stages of the disease, bone marrow failure is common, resulting in an abnormally low red blood cell count (anemia) and lack of blood platelets (thrombocytopenia). Therapies: Standard Waldenstrom Macroglobulinemia is treated with the cytotoxic alkylating drug chlorambucil which is directed against the abnormal proliferation of lymph and plasma cells. The dosage of this drug must be flexible, depending on white blood cell and blood platelet counts. Cyclophosphamide or a combination of alkylating drugs may also be beneficial. Careful monitoring by a physician experienced in their use is recommended. Therapies: Investigational If the blood of patients with Waldenstrom Macroglobulinemia is "too thick" (hyperviscous), plasmapheresis has been used as an experimental treatment. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Waldenstrom Macroglobulinemia. This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Waldenstrom Macroglobulinemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P.472. POLYNEUROPATHY IN WALDENSTROM'S MACROGLOBULINAEMIA: REDUCTION OF ENDONEURIAL IgM-DEPOSITS AFTER TREATMENT WITH CHLORAMBUCIL AND PLASMAPHERESIS: C. Meier, et al.; Acta Neuropathol (Berlin) (1984: issue 64(4)). Pp. 297-307. ALLEVIATION OF OCULAR COMPLICATIONS OF THE HYPERVISCOSITY SYNDROME IN WALDENSTROM'S MACROGLOBULINEMIA USING PLASMA EXCHANGE: F. Malecaze, et al.; Journal Fr Ophtalmol (1986: issue 9(5)). Pp. 367-371. PLASMA EXCHANGE AND MODERATE DOSE OF CYTOSTATICS IN ADVANCED MACRO(CRYO)- GLOBULINEMIA: P. Pihlstedt; Acta Med Scand (1982: issue 212(3)). Pp. 187-190. Waldenstrom Macroglobulinemia quiQ T pagetitle 513: Waldenstrom Macroglobulinemia 04322.TXT Copyright (C) 1986, 1988, 1990 National Organization for Rare Disorders, Inc. 91: Waldmann Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Waldmann Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hypoproteinemia, Idiopathic Intestinal Lymphangiectasia Intestinal Lymphangiectasis Primary Intestinal Lymphangiectasia Primary Intestinal Lymphangiectasis Familial Hypoproteinemia with Lymphangiectatic Enteropathy Lymphangiectatic Protein-Losing Enteropathy Hypercatabolic Protein-Losing Enteropathy Neonatal Lymphedema due to Exudative Enteropathy Familial Dysproteinemia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Waldmann Disease may be a congenital or an acquired digestive disorder. It is characterized by dilatation of the intestinal lymphatic system, particularly the lymph vessels in the intestinal villi (lacteals) that transport milky-white, protein-rich lymph (chyle). Symptoms Waldmann Disease is characterized by a widening (dilatation) of the lymphatic vessels in the wall of the small intestine. When these vessels rupture, milky white, protein rich lymph (chyle) leaks through the intestinal wall into the bowel lumen. The chyle may also accumulate in the cavity around the intestines (peritoneal cavity), and it may also leak into the cavity around the lungs (pleural cavity). Swelling of the extremities (edema) also may occur. This usually begins at birth or shortly thereafter. An excessive amount of fat in the feces (steatorrhea), decreased protein in the blood (hypoproteinemia), reduced blood calcium (hypocalcemia), and a reduced number of lymphocytes in the blood (lymphocytopenia) may also occur. In cases where Waldmann Disease is genetic, it is inherited as a dominant genetic trait. Causes Waldmann Disease may be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) It may also be acquired as a consequence of an infection in the major lymphatic ducts. Additionally, it may be caused by an abnormal growth (neoplasm). Affected Population Waldmann Disease may affect children and young adults of both sexes. Related Disorders Crohn's Disease, also known as Regional Enteritis, is a form of inflammatory bowel disease characterized by severe, often granulomatous, chronic inflammation of the wall of the gastrointestinal tract. In most cases, some part of the intestinal segment between the beginning of the ileum and the rectum is affected. (For more information, choose "Crohn" as your search term in the Rare Disease Database.) Whipple's Disease (Intestinal Lipodystrophy) is an uncommon disorder of unknown origin. This disorder affects the lining of the small intestine, resulting in malabsorption of nutrients. The disorder may also affect other organs such as the heart, lung, brain, joints, eye, and gastrointestinal tract. (For more information, choose "Whipple" as your search term in the Rare Disease Database.) Hemolytic-Uremic Syndrome (Gasser Syndrome, or HUS) is a hereditary disorder characterized by hemolytic anemia, decrease in blood platelets (thrombocytopenia) and renal failure. These symptoms are associated with infection and gastroenteritis. HUS occurs most commonly in women with complications of pregnancy, and in children under 5 years of age. Therapies: Standard Some patients with Waldmann Disease improve on a low-fat diet, containing whole whey protein and maltodextrin, with supplements of medium-chain fats (triglycerides) and a small amount of long-chain triglycerides to supply essential fatty acids. Occasionally surgical removal of the involved part of the intestine, if the lesion is localized, may be beneficial. Therapies: Investigational This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Waldmann Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Lymphatic and Venous Diseases Association Cambridge Medical Supply 218 Monsignor O'Brien Highway Cambridge, MA 02141 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References DIETARY MANAGEMENT OF INTESTINAL LYMPHANGIECTASIA COMPLICATED BY SHORT GUT SYNDROME: J.M. Thompson, A. Brett, and S.J. Rose; Human Nutrition and Applied Nutrition (April, 1986: issue 40:2). Pp. 136-140. Waldmann Disease pagetitle 91: Waldmann Disease 04323.TXT ,Copyright (C) 1990 National Organization for Rare Disorders, Inc. 817: Weaver Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Weaver Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Weaver-Smith Syndrome WSS Information on the following disorders can be found in the Related Disorders section of this report: Marshall-Smith Syndrome Gigantism Sotos Syndrome McCune-Albright Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Weaver Syndrome is characterized by rapid growth. Usually starting before birth (prenatal onset), physical growth and bone development (maturation) can occur more quickly than average. Other symptoms can include increased muscle tone (hypertonia) with exaggerated reflexes (spasticity), slow development of voluntary movements (psychomotor retardation), specific physical characteristics, and/or foot deformities. Babies with this syndrome have a hoarse low-pitched cry. Symptoms In patients with Weaver Syndrome growth and bone development (maturation) occur faster than normal, with normal to above normal weight in relation to the patient's height. Some bones may be wider than average. In a small number of patients, this faster than normal rate of growth may not occur, or does not begin until the baby is a few months old. Hypertonia, increased muscle tone with exaggerated reflexes (spasticity) which is progressive, and/or slow development of voluntary movements (psychomotor retardation) may occur. Babies with this syndrome have a hoarse low-pitched cry. Individuals with Weaver Syndrome may have extremely wide-set eyes (hypertelorism), sometimes with excess skin over the inner corner of the eyes (epicanthal folds), or other eyelid abnormalities (downslanting palpebral fissures). The back part of the head (occiput) may be flat, the forehead broad, and the ears unusually large. The natural groove located above the upper lip and below the nose (philtrum) may be longer than average. The jaw may appear somewhat smaller than normal (micrognathia). Other physical characteristics can include thin hair, inverted nipples and skin which appears somewhat loose. Thumbs of people with Weaver Syndrome are usually broad. One or more fingers may be permanently bent (camptodactyly). Nails can be deep-set and thin. The pads of the fingertips are usually prominent. Malformed toes (clinodactyly), an abnormally high arch (pes cavus), a clubfoot with the sole of the foot turned inward and upward either in the direction of the heel (talipes equinovarus) or of the toes (talipes calcaneovalgus), or a twisted foot (metatarsus adductus) may be present. Individuals may not be able to extend their elbows or knees out very far. In some patients, hernias in the abdomen (inguinal or umbilical hernias) may develop. Occasionally, one of the long bones in the foot (fourth metatarsal) is shorter than average. Brain abnormalities such as enlarged vessels and too many blood vessels (hypervascularization), atrophy (cerebral atrophy), or a cyst in a certain area of the brain (septum pellucidum) may occur in some patients. Causes The exact cause of Weaver Syndrome is unknown. Some researchers think, because there have been some cases of mildly affected mothers having sons who are more severely affected, that Weaver Syndrome may be inherited as an autosomal dominant trait with a gender-limited expression of symptoms, or an X-linked recessive trait. Others think that it may be an autosomal recessive trait. In some cases there are no signs of heredity in a family and the cause is unknown. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Weaver Syndrome is a rare disorder affecting males three times more often than females. The syndrome is usually present before birth (prenatal onset). Related Disorders Marshall-Smith Syndrome is similar to Weaver Syndrome in that growth and bone maturation occur faster than normal. However, patients with Marshall-Smith Syndrome are underweight in relation to their height whereas patients with Weaver Syndrome have normal to above normal weight in relation to their height. Marshall-Smith Syndrome patients also have respiratory difficulties, different physical characteristics and other symptoms that patients with Weaver Syndrome do not have. (For more information on this disorder, choose "Marshall-Smith" as your search term in the Rare Disease Database). Gigantism occurs before puberty and is caused by oversecretion of growth hormone. It is characterized by excessive growth during childhood with relatively normal body proportions and sexual development. Height sometimes reaches 7 or 8 feet. Soft tissues are also enlarged. In extreme cases, disease of muscle tissue (myopathy) and abnormalities of nerves distant from the brain and spinal cord (peripheral neuropathy) may occur. Certain hereditary syndromes such as Klinefelter Syndrome, Marfan Syndrome, Soto's Syndrome and some of the lipodystrophies, may include unusually tall height among their symptoms. (For more information on disorders involving gigantism, choose "gigantism or "giant" as your search term in the Rare Disease Database. For more information, choose "peripheral neuropathy," "Marfan," and "Klinefelter" as your search terms in the Rare Disease Database). Soto's Syndrome is a rare, hereditary disorder characterized by excessive growth (over the 90th percentile) during the first 4 to 5 years of life. Abnormalities of the nervous system, including aggressiveness, irritability, clumsiness, an awkward gait, and mental retardation sometimes also occur. Physical characteristics also include eyes which appear to be abnormally far apart (hypertelorism) and slanted. (For more information, choose "Soto" as your search term in the Rare Disease Database.) McCune-Albright Syndrome (Osteitis Fibrosa Disseminata) is characterized by an early (precocious) sexual development, a change in bone integrity which produces pain, increasing deformity and disability, and possible changes in skin pigmentation. This syndrome involves the endocrine, muscle and bone systems. Excessive secretion of growth hormone as well as other hormones occurs in some cases. Children with McCune-Albright Syndrome are excessively tall during childhood, but their growth stops early and they usually don't reach normal height during adulthood. (For more information, choose "McCune-Albright Syndrome" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Weaver Syndrome is symptomatic and supportive. An orthopedist can be consulted for correction of foot deformities. Genetic counseling may be of benefit to patients and their families. Therapies: Investigational This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Weaver Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 130-135. A GIRL WITH THE WEAVER SYNDROME. E. M. Thompson; J Med Genet (Apr 1987; issue 24 (4)). Pp. 232-234. A NEW AUTOSOMAL RECESSIVE DISORDER RESEMBLING WEAVER SYNDROME. A. S. Teebi, et al.; Am J Med Genet (Aug 1989; issue 33 (4)). Pp. 479-482. FURTHER DELINEATION OF WEAVER SYNDROME. H. H. Ardinger, et al.; J Pediatr (Feb 1986; issue 108 (2)). Pp. 228-235. THE SYNDROMES OF MARSHALL AND WEAVER. N. Fitch; J Med Genet (Jun 1980; issue 17 (3)). Pp. 174-178. WEAVER-SMITH SYNDROME. A CASE STUDY WITH LONG-TERM FOLLOW-UP. N. Amir, et al.; Am J Dis Child (Dec 1984; issue 138 (12)). Pp. 1113-1117. WEAVER SYNDROME: THE CHANGING PHENOTYPE IN AN ADULT. F. Greenberg, et al.; Am J Med Genet (May 1989; issue 33 (1)). Pp. 127-129. WEAVER SYNDROME WITH PES CAVUS. S. A. Farrell and H. E. Hughes; Am J Med Genet (Aug 1985; issue 21 (4)). Pp. 737-739. Weaver Syndrome -pagetitle 817: Weaver Syndrome 04324.TXT Copyright (C) 1986, 1989, 1992 National Organization for Rare Disorders, Inc. 297: Weber-Christian Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Weber-Christian disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Nodular Nonsuppurative Panniculitis Relapsing Febrile Nodular Nonsuppurative Panniculitis Pfeiffer-Weber-Christian syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Weber-Christian disease is characterized by fever and the formation of crops of nodules in the fatty tissue under the skin (subcutaneous tissue). Symptoms Weber-Christian disease usually begins gradually. Bluish-red (erythematous) nodules appear in the fatty layer under the skin of arms, legs, thighs, buttocks and abdomen. The overlying skin usually appears red. Enlargement of the spleen and lymph nodes is possible. Fever also occurs. Other symptoms may include malaise, a sore throat, chills, nausea, anemia, pain in the joints, muscles and possibly the abdomen. These symptoms may subside after a few days or weeks, and may recur weeks, months or years later. Causes The cause of Weber-Christian disease is generally unknown. Sometimes the cause may be identified as an allergy, or possibly a predisposition of fatty tissue to a granulomatous reaction. Occasionally Weber-Christian disease can be associated with diabetes mellitus, systemic lupus erythematosus, subacute bacterial endocarditis, tuberculosis, iodide and bromide therapy, withdrawal from large doses of corticosteroids, or pancreatitis. Affected Population Weber-Christian disease most often affects adult women, usually between the ages of 20 and 40 years. Therapies: Standard Treatment of Weber-Christian disease is symptomatic and supportive. If the disorder is associated with a secondary condition, treatment of that disorder can alleviate the symptoms of Weber-Christian disease. Therapies: Investigational Treatment of Weber-Christian disease with oral cyclophosphamide (a cytostatic drug), has shown some promise in preliminary clinical trials. The orphan drug thalidomide is being tested as a treatment for Weber-Christian Disease. This drug should not be taken by pregnant women because it can cause severe birth defects. Physicians wishing to test thalidomide as a treatment for this disorder may contact: Pediatric Pharmaceutical 379 Thornall St. Edison, NJ 08837 Thalidomide is available in England under special license from Penn Pharmaceuticals of Tredegar, South Wales. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Weber-Christian Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References Cyclophosphamide-Induced Remission in Weber-Christian Panniculitis; W. Kirch et al.: Rheumatol. Int. 1985; 5(5): pp. 239-240. Weber-Christian Disease pagetitle 297: Weber-Christian Disease 04325.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 388: Weil Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Weil Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Fiedler Disease Icterohemorrhagic Leptospirosis Infectious Jaundice Lancereaux-Mathieu-Weil Spirochetosis Leptospiral Jaundice Spirochetal Jaundice Weil Disease Information on the following diseases can be found in the Related Disorders section of this report. Meningitis Leptospirosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Weil Syndrome is a severe form of bacterial infection caused by Leptospira bacteria (Leptospirosis). This type of infection causes dysfunction of the liver and kidneys. Symptoms Symptoms of Weil Syndrome usually start abruptly, with headache, disturbances in consciousness, pain in muscles and abdomen, a stiff neck, lack of appetite (anorexia), chills, nausea, vomiting, and fever. Prostration, coughing, expectoration of blood-stained sputum (hemoptysis), and nosebleed (epistaxis) may also occur. Yellowing of the skin (jaundice), bleeding in muscles, gastrointestinal tract, and visceral organs may be widespread. Small purplish-red spots (petechiae) may appear, caused by hemorrhages in the skin. Enlarged lymph nodes, and continued fever may occur for several days. Respiratory distress syndrome which includes great difficulty breathing and dangerously low levels of oxygen in the blood (hypoxemia) may sometimes develop in Weil Syndrome. Signs of liver and kidney dysfunction usually appear from the 3rd to the 6th day. Kidney abnormalities may include the appearance of protein (proteinuria), pus (pyuria), or blood in the urine (hematuria), and an excess of urea in the blood (azotemia). The kidney is often enlarged, and its capsule is tense. Bleeding in many places throughout the body may occur due to injury of tiny blood vessels (capillaries). A low number of blood platelets (thrombocytopenia) may also occur. Damage to the liver is usually minimal and complete healing almost always occurs. Fever usually abates on the 7th day, but it may be recurrent for weeks. After age 50 the prognosis for Weil Disease is less optimistic than for younger people. Causes Weil Disease is caused by an infection from the bacteria Leptospira icterohemorrhagiae or other related types of this bacteria (such as L canicola, or L pomona). The infection is usually transferred to humans through urine or tissue of an infected domestic or wild animal. The infection enters through a skin abrasion or the mucous membranes. Affected Population Weil Syndrome may occur in people of all ages. At least 75% of persons infected with this disorder are male. It can be an occupational disorder striking farmers, veterinarians, or sewer and abattoir workers, but most patients are exposed incidentally during recreational activities. Related Disorders Many types of bacterial infections may affect the liver, kidneys and respiratory organs, causing symptoms similar to those of Weil Syndrome. Leptospirosis is an inclusive term for all bacterial infections caused by any Leptospira bacteria, regardless of the type. (For more information, choose "Leptospirosis" as your search term in the Rare Disease Database.) Meningitis is an infection of the membrane lining the skull or the spinal cavity (meninges) by either bacteria or viruses. Therapies: Standard Antibiotics such as penicillin, streptomycin, the tetracyclines, chloramphenicol, and erythromycin may be effective if used before the 4th day after onset of symptoms of Weil Syndrome. Peritoneal dialysis in combination with antibiotics has been used successfully in many patients. Therapies: Investigational Studies are underway to determine the role of antigens and antibodies in treating Weil Syndrome infections, including Weil Syndrome. However, treatments have not been established as yet. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Weil Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References ADULT RESPIRATORY DISTRESS SYNDROME IN LEPTOSPIRA ICTEROHAEMORRHAGIAE INFECTION: H.D. Chee, et al.; Intensive Care Medicine (1985: issue 11,5). Pp. 254-256. CURRENT CLINICAL ASPECTS OF LEPTOSPIROSIS: F. Suter, et al.; Minerva Medica (May 12, 1983: issue 74,20). Pp. 1179-1186. (Published in Italian.) Weil Syndrome notA pagetitle 388: Weil Syndrome 04326.TXT `$R$Copyright (C) 1992 National Organization for Rare Disorders, Inc. 893: Weill-Marchesani Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Weill-Marchesani Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Congenital Mesodermal Dysmorphodystrophy Mesodermal Dysmorphodystrophy, Brachymorphic Type, Congenital Spherophakia-Brachymorphia Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Ectopia Lentis Kniest Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Weill-Marchesani Syndrome is a rare genetic disorder inherited as an autosomal recessive trait. The major features of this disorder are short stature and a congenital vision defect in which the lens of the eye is unusually rounded and may dislocate. Symptoms People with Weill-Marchesani Syndrome have a stocky build, tend to become heavy, and have limbs that are short and round. The face is full, with a wide skull, short neck, depressed nasal bridge, and pug nose. The orbit that contains the eyeball is shallow, the lens in the eye is small and tends to dislocate, and nearsightedness occurs. Other symptoms found in some people with Weill-Marchesani Syndrome may be: joint stiffness with limited extension; an abnormal condition of high pressure within the eye causing eye pain, blurred vision, and a wide-open pupil (acute glaucoma); a condition in which the lens is dislocated (ectopia lentis); mild underdevelopment of the jaw bone; a narrow roof of the mouth (palate); teeth that do not form properly or do not conform to the dental arch; and/or a sensation of numbness, tingling, burning, or pain in the hand or wrist caused by compressing of peripheral nerves (Carpal Tunnel Syndrome). (For more information on this disorder choose "Carpal Tunnel" as your search term in the Rare Disease Database). Blindness has occurred in some people with Weill-Marchesani Syndrome. Causes Weill-Marchesani Syndrome is thought to be inherited as an autosomal recessive trait with partial expression in the heterozygote. Dominant inheritance has also been suggested. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Heterozygous is a condition in which a person has two different genes at the same place on matched chromosomes. An individual who is heterozygous for a particular trait has inherited a gene for that trait from one parent and the alternative gene from the other parent. A person heterozygous for a genetic disease caused by a dominant gene will show the disease. An individual heterozygous for a hereditary disorder produced by a recessive gene will not show the disease or will have a milder form of it. The offspring of a heterozygous carrier of a genetic disorder will have a fifty percent chance of inheriting the gene dominant for the trait. Affected Population Weill-Marchesani Syndrome is a rare disorder that affects males and females in equal numbers. This disorder has been found worldwide and affects approximately one out of every one hundred thousand people. The average age for detection of Weill-Marchesani Syndrome is seven, even though symptoms of the disorder are usually apparent earlier in life. Related Disorders Symptoms of the following disorders can be similar to those of Weill-Marchesani Syndrome. Comparisons may be useful for a differential diagnosis: Ectopia Lentis is a congenital displacement of the lens of the eye. This disorder may occur alone or as a part of other disorders. When Ectopia Lentis occurs alone it is inherited as an autosomal dominant trait. The dislocation of the lens of the eye may be present at birth or occur later. Some people with Ectopia Lentis have no symptoms at all while others may have poor vision and/or double vision. Kniest Syndrome is a rare type of dwarfism that is characterized by unusually short arms and legs, a round face with hollow or depressed areas, swelling and stiffness of the joints, and a stiff drawing up (contractures) of the fingers. A cleft palate, curvature of the spine (scoliosis), vision and hearing problems may also occur. (For more information on this disorder, choose "Kniest Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Treatment with drugs or eye drops may help to reduce the pressure within the eyeball of people with Weill-Marchesani Syndrome. Surgery may be performed to create a new outflow channel for the fluid causing pressure behind the eye or the lens may be removed when glaucoma is present. Patients with Carpal Tunnel Syndrome may be treated with steroidal and non-steroidal medications when the symptoms are mild. Splinting to immobilize the wrist is often recommended. When the symptoms are severe and conservative measures fail, surgical decompression of the carpal canal in the wrist can be performed. If pressure on the median nerve has persisted for a prolonged period of time, recovery may be incomplete. Genetic counseling may be of benefit for patients with Weill-Marchesani Syndrome and their families. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Weill-Marshall Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 American Carpal Tunnel Syndrome Association P.O. Box 514 Santa Rosa, CA 95402-0514 (707) 571-0397 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1532. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 397. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1575. THE WEILL-MARCHESANI SYNDROME: REPORT OF TWO CASES AND A REVIEW: G.M. Haik Sr, et al.; J La State Med Soc (December, 1990, issue 142(12)). Pp. 25-8, 30-2. Weill-Marchesani Syndrome caum% p%pagetitle 893: Weill-Marchesani Syndrome 04327.TXT )z)Copyright (C) 1985, 1986, 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 36: Werdnig-Hoffman Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Werdnig-Hoffman) Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Infantile Spinal Muscular Atrophy Werdnig-Hoffman Paralysis Spinal Muscular Atrophy Type I SMA I SMA, Infantile Acute Form Information on the following diseases can be found in the Related Disorders section of this report: Muscular Dystrophy, Batten Turner Leukodystrophy, Canavan Olivopontocerebellar Atrophy (OPCA) Benign Congenital Hypotonia General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Werdnig-Hoffmann Disease is a rare inherited neuromuscular disorder of children. It is characterized by degenerative changes in the spinal cord (the ventral horn cells). This results in generalized muscle weakness and the progressive wasting away (atrophy) of the muscles of the trunk and extremities. Symptoms Werdnig-Hoffman Disease is a rare disorder that may begin in the developing fetus (in utero) or before 2 years of age. The earlier the onset, the more serious the outcome usually is. The early signs include a generalized muscle weakness (hypotonia) and hypermobility of joints; absent tendon reflexes; twitching (fasciculations) of the tongue; and a frog-like position with the hips moved apart (abducted) and knees bent or flexed. Mental development is usually normal. Typically, the child does not gain head control, cannot turn over and is unable to sit or stand. The rate of progression of Werdnig-Hoffman Disease varies. In the form that begins in utero, generalized muscle atrophy and weakness tend to progress rapidly. Within a few months, breathing (respiratory) and excretory difficulties may develop. The infant may be unable to swallow. Respiratory failure may occur or food inhaled into the lungs (aspiration) may cause choking. The form of Werdnig-Hoffman Disease that begins during the first few months of life may have a more slowly progressive course, even extending into adult life. In rare cases, the disease may become arrested. Causes Werdnig-Hoffmann Disease is a rare disorder usually inherited as an autosomal recessive trait. In rare instances this disorder may be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. The gene that causes the most common recessive form of Werdnig-Hoffman Disease has been located on the long arm of chromosome 5. Affected Population Werdnig-Hoffman Disease is a very rare disorder that affects males and females in equal numbers. There may be no known family history of the disease, since the genetic defect is recessive in most cases. This disorder occurs in an estimated 1 in 1,000,000 live births per year. Related Disorders Symptoms of the following disorders can be similar to those of Werdnig-Hoffman Disease. Comparisons may be useful for a differential diagnosis: Batten Turner Muscular Dystrophy is a form of muscular dystrophy that is present at birth. The initial symptoms of this disorder in the infant may be a generalized "floppiness" and lack of muscle tone (hypotonia). Later muscular weakness may make the child prone to falling and stumbling. Early motor development and milestone achievements may be minimally delayed. As a rule, walking becomes normal later in life, but physical activities may be hampered. (For more information on this disorder, choose "Batten Turner Muscular Dystrophy" as your search term in the Rare Disease Database). Canavan Leukodystrophy is a rare inherited disorder that is characterized by the progressive degeneration of the central nervous system. The early symptoms of this disorder include a general lack of energy, floppiness, and the loss of previously acquired motor skills. (For more information on this disorder, choose "Canavan Leukodystrophy" as your search term in the Rare Disease Database). Olivopontocerebellar Atrophy (OPCA) is a rare neurological disorder that is characterized by the degeneration of the cerebellar cortex. This disorder usually affects adults but it may occur in infants. In cases affecting children the disorder is inherited as an autosomal recessive trait. Symptoms include floppiness (severe hypotonia) and generalized muscle weakness, the lack of deep reflexes and a general failure to thrive. There may also be an enlargement of the heart, respiratory complications and dislocation of the hips. (For more information on this disorder, choose "Olivopontocerebellar Atrophy" as your search term in the Rare Disease Database). Benign Congenital Hypotonia is a nonprogressive neuromuscular disorder which occurs at birth. The disorder is characterized by a generalized muscle weakness or "floppiness" (hypotonia). Infants with Benign Congenital Hypotonia also appear weak and listless. In many cases the symptoms improve as the child ages and the central nervous system matures. (For more information on this disorder, choose "Benign Congenital Hypotonia" as your search term in the Rare Disease Database). For more information on disorders that cause muscle weakness, type "neuromuscular" as your search term in the Rare Disease Database. Therapies: Standard Treatment of Werdnig-Hoffman Disease is symptomatic and supportive. Physical therapy, respiratory care, and aggressive treatment of respiratory infections are used. Orthopedic devices may be helpful when the condition is relatively stable. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational Scientists have been investigating the possibility that nerve cells contain nourishing (trophic) substances essential to the maintenance of health in the muscle cells that they stimulate. Researchers are trying to develop treatments that may replace these substances in muscles. The orphan drug Ciliary Neutrotrophic Factor, Recombinant Human, is being tested as a possible treatment for spinal muscular atrophies. The drug is manufactured by Syntex-Synergen Neuroscience, 1885 33rd Street, Boulder, CO, 80301. The Muscular Dystrophy Association (MDA) supports basic and applied studies on nerve and muscle metabolism in the hope that these will lead to a better understanding of the biological processes that give rise to neuromuscular diseases such as Werdnig-Hoffmann disease. Research on genetic defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project that is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Werdnig-Hoffman disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Families of Spinal Muscular Atrophy P.O. Box 1465 Highland Park, IL 60035 (708) 432-5551 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 OQP 01-720-8055 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1563-1564. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 2140. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1576-1577. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 1146-1147. EMG EVALUATION OF THE FLOPPY INFANT: DIFFERENTIAL DIAGNOSIS AND TECHNICAL ASPECTS. H.R. Jones Jr.; Muscle Nerve (April 1990; 13(4)): Pp. 338-347. Werdnig-Hoffman Disease *pagetitle 36: Werdnig-Hoffman Disease 04328.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 135: Werner Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Werner Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Progeria of Adulthood Please note: Werner syndrome also refers to a form of dwarfism that is unrelated to progeria. It is known as Werner's mesomelic dwarfism. General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Werner syndrome is a rare form of premature ageing which begins in early adulthood. It affects both males and females. Symptoms Werner syndrome progresses steadily. Affected individuals appear normal until adolescence, when developmental retardation begins. Stature remains short, and sexual organs fail to complete normal enlargement and development. Secondary sex characteristics such as pubic, axillary, and facial hair are absent or regress. Other abnormalities of Werner syndrome also appear during adolescence or young adulthood. The limbs are thin and weak, with small hands and feet, and short, deformed fingers. Typical facial characteristics include a beaked nose, prominent eyes, thinned eyebrows and lashes, grey hair, and, eventually, baldness. The torso tends to be stocky, but elsewhere, muscular mass and subcutaneous fat are lost, allowing the skeleton to become prominent. The skin becomes shiny and taut, with sclerodermatoid changes; these consist of a chronic hardening and shrinking of the connective tissues, so that the skin becomes hard, thickened, and rigid. Sometimes the disorder resembles scleroderma, but it can be differentiated by the fact that mainly males are affected, its early onset and clinical course (premature ageing changes). Other features include arteriosclerosis, the frequent development of cataracts before the age of forty years, a susceptibility to ulcerations on the legs, and diabetes mellitus. Soft tissues atrophy, while the bones become thin, fragile, and often painful and deformed due to osteoporosis, or demineralization. There may be osteoarthritis. Calcification occurs in the extremities and the heart, particularly the valves and coronary arteries. Other potentially fatal complications include cerebral stroke and cancers. Werner syndrome can occur in partial forms, exhibiting only a few of the symptoms described, and having a milder, slower course. Causes Werner syndrome appears to be hereditary, with an autosomal recessive mode of transmission. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Another theory is that spontaneous loss, or deletion, of chromosomal (chromosomal instability) is responsible for the premature aging that occurs in Werner Syndrome. The biochemical defect(s) responsible for Werner syndrome are not known. Faulty metabolism of steroids, such as certain hormones, bile acids, and cholesterol may be involved. Affected Population Males and females over the age of about fourteen years are affected with Werner's syndrome. Related Disorders Hutchinson-Gilford syndrome is a similar syndrome with onset in early childhood. In Gottron syndrome, only the extremities are affected. (For more information on Hutchinson-Gilford syndrome and Gottron syndrome, choose "hutchinson" and "gottron" as your search terms in the Rare Disease Database.) Therapies: Standard Available treatments for Werner syndrome are supportive and symptomatic. They include surgery for cataracts, skin grafting for ulcerations, etc. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Werner Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Progeria International Registry (PIR) New York State Institute for Basic Research in Developmental Disabilities 1050 Forest Hill Road Staten Island, NY 10304 (718) 494-0600 Progeria Foundation 3 Styvesant Oval, 9A New York, NY 10009 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1202. Dr. Raymond Monnat and Dr. George M. Martin, Department of Pathology, University of Washington, Seattle, WA. Werner Syndrome pagetitle 135: Werner Syndrome 04329.TXT 4Copyright (C) 1986, 1990, 1993 National Organization for Rare Disorders, Inc. 90: Whipple's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Whipple's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Intestinal Lipodystrophy Secondary Non-tropical Sprue Intestinal Lipophagic Granulomatosis Information on the following diseases can be found in the Related Disorders section of this report: Crohn's Disease Ulcerative Colitis Primary Sclerosing Cholangitis Chronic Erosive Gastritis Glucose-Galactose Malabsorption Irritable Bowel Syndrome Intestinal Pseudoobstruction Giant Hypertrophic Gastritis AIDS General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Whipple's Disease is a rare infectious disease that causes an abnormality in the metabolism and/or usage of fats (lipodystrophy) in the small intestine (localized) characterized by impairment of the ability to properly absorb nutrients (malabsorption), anemia, and joint pain. This disorder may also affect other organs of the body including the heart, lungs, brain, and eyes. Symptoms The major symptoms of Whipple's Disease include abdominal pain after eating, joint pain, bouts of diarrhea, cough, chest pain, general weakness, and night sweats. Typically there is fat present in the stool (steatorrhea). Weight loss may occur because of a profound lack of appetite (anorexia). Anemia may result due to insufficient levels of iron. Other symptoms of Whipple's Disease may include: abnormally enlarged lymph nodes that are firm but usually not tender, an abnormally enlarged spleen (splenomegaly), increased color (pigmentation) of the skin, a decrease in blood pressure (hypotension), and abnormally high fevers that come and go. Some people with this disorder may experience a decrease in intellectual abilities, and an impairment of memory, judgment, and/or abstract thought. Occasionally the loss of intellectual skills progresses to dementia. Eye movements may be impaired and uncontrolled muscular movements (myoclonus) may occur when Whipple's Disease has affected the brain or central nervous system. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database.) The central nervous system is affected in the later stages of untreated Whipple's Disease. Symptoms of neurological involvement may include hearing loss, persistent ringing in the ears (tinnitus), and impairment of vision. (For more information on this disorder, choose "Tinnitus" as your search term in the Rare Disease Database.) In rare cases of this disorder, the heart may be affected resulting in congestive heart failure and/or inflammation of the membranes that surround the heart (pericarditis). If Whipple's Disease remains untreated and malabsorption from the small intestine becomes worse, the person may have low levels of circulating calcium and magnesium in the blood (hypokalemia and hypomagnesemia) resulting in muscle cramps, convulsions, and twitching (tetany). Damage to the nerves, especially those of the arms and legs (peripheral neuropathy) may also occur. (For more information on these disorders, choose "Neuropathy, Peripheral" as your search term in the Rare Disease Database.) Whipple's Disease may be diagnosed by ultrasound tests and CT scan that may reveal abnormally enlarged lymph nodes (lymphadenopathy) and/or a thickening of the lining of the small intestine. Biopsy samples of the small intestine reveal the presence of the bacteria that causes this disorder. Without proper antibiotic treatment, Whipple's Disease may result in life-threatening complications. Causes Whipple's Disease is caused by a "rod-shaped" bacterium called Tropheryma whippelii. Affected Population Whipple's Disease is a rare disorder that affects more males than females in a ratio of 8 males to 1 female. The symptoms of this disorder typically begin between the ages of thirty and sixty years. Most of the cases of Whipple's Disease have been diagnosed in Americans of European descent, although cases have been reported among American Indians and Americans of African descent. Related Disorders Symptoms of the following disorders can be similar to those of Whipple's Disease. Comparisons may be useful for a differential diagnosis: Crohn's Disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. Symptoms may include vomiting, fever, night sweats, loss of appetite, general weakness, and waves of abdominal pain and discomfort. Diarrhea and bleeding from the rectum are common in people who have Crohn's Disease. Weight loss is also common. The symptoms of this disorder can be difficult to manage and diagnosis is often delayed. (For information on this disorder, choose "Crohn's Disease" as your search term in the Rare Disease Database.) Ulcerative Colitis is an acute inflammatory bowel disease characterized by diarrhea and blood in the stools because of multiple, irregular ulcerations of the bowel. The initial symptoms of this disorder may include a general feeling of weakness (malaise) and fatigue. There may be abdominal discomfort, along with a change in the frequency and consistency of stools. Other symptoms may include abdominal pain, cramping, and urgency (tenesmus). Weight loss and a decrease in appetite are also associated with Ulcerative Colitis. (For more information on this disorder, choose "Ulcerative Colitis" as your search term in the Rare Disease Database.) Primary Sclerosing Cholangitis is a rare collagen disorder involving inflammation and blockage of the bile duct, liver ducts, and gallbladder. Symptoms of this disorder include abdominal pain, loss of appetite, nausea, vomiting, and/or weight loss. Later symptoms may include a yellow discoloration to the skin (jaundice), fever, chills, and/or itching of the skin. Bacterial infections may be associated with bile duct blockages of Primary Sclerosing Cholangitis. (For more information on this disorder, choose "Primary Sclerosing Cholangitis," as your search term in the Rare Disease Database.) Chronic Erosive Gastritis is an inflammatory digestive disorder characterized by multiple lesions in the mucus lining of the stomach. Symptoms of this disorder may include burning or a heavy feeling in the stomach, mild nausea, vomiting, loss of appetite and general weakness. In severe cases of Chronic Erosive Gastritis there may be bleeding from the stomach that can result in anemia. (For more information on this disorder, choose "Chronic Erosive Gastritis" as your search term in the Rare Disease Database.) Glucose-Galactose Malabsorption (carbohydrate intolerance) is a rare inherited disorder characterized by the inability of the small intestine to transport and absorb glucose and galactose. The symptoms may include diarrhea, bloating, dehydration, profound loss of appetite, and vomiting. Other symptoms may include abdominal cramps, and rumbling sounds caused by gas in the intestine (borborygmi), and/or excessive urination. (For more information on this disorder, choose "Glucose-Galactose Malabsorption" as your search term in the Rare Disease Database.) Irritable Bowel Syndrome, also known as Spastic Colon, is a common digestive disorder that involves both the small intestine and the large bowel. This disorder is characterized by abdominal pain, constipation, bloating, nausea, headache, and/or diarrhea. The spastic colon type of this syndrome is characterized by variable bowel movements and abdominal pain that is associated with periodic constipation or diarrhea. Those patients with Irritable Bowel Syndrome who have painless diarrhea may experience an urgent need to defecate upon arising. (For more information on this disorder, choose "Irritable Bowel Syndrome" as your search term in the Rare Disease Database.) Intestinal Pseudoobstruction is a gastrointestinal disorder characterized by a lack of motility of the intestine. This condition resembles a true obstruction although there is no evidence of any physical obstruction. Symptoms may include constipation, colicky pain, vomiting, and weight loss. Intestinal Pseudoobstruction may also affect speech, muscle activity, and the nervous system. (For more information on this disorder, choose "Intestinal Pseudoobstruction, Intestinal" as your search term in the Rare Disease Database.) Giant Hypertrophic Gastritis is a chronic disorder characterized by the presence of large, coiled ridges or folds, in the inner wall of the stomach. Symptoms include abdominal pain or discomfort and tenderness in the upper middle region of the abdomen. Other symptoms may include a profound loss of appetite, nausea, vomiting, and diarrhea. (For more information on this disorder, choose "Giant Hypertrophic Gastritis" as your search term in the Rare Disease Database.) Acquired Immune Deficiency Syndrome (AIDS) is an immunosuppressive disorder caused by infection with the human immunodeficiency virus (HIV). The immune deficiency is a result of a viral infection and the destruction of specific T cells. Initially HIV infection is characterized by a period without symptoms. This may be followed by the development of swollen lymph nodes (lymphadenopathy). Eventually most people with Acquired Immune Deficiency Syndrome experience a progression of symptoms that occur as a result of a compromised immune system. When a person with AIDS has an intestinal infection with Mycobacterium avium intracellulare, the symptoms may be confused with those of Whipple's Disease. (For more information on this disorder, choose "AIDS" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Whipple's Disease includes the use of antibiotics. Many different types have been helpful; e.g., tetracycline, chlortetracycline, sulfasalizine, ampicillin, trimethoprim, and penicillin. Other patients may be treated with a combination of antibiotics including tetracycline, streptomycin, and penicillin or trimethoprim and sulfamethoxazole. Antibiotic therapy may be necessary for a few months to several years. In rare cases with severe symptoms associated with Whipple's Disease, corticosteroid drugs (e.g., prednisone) may be added to the antibiotic regimen. Some people with severe intestinal malabsorption caused by Whipple's Disease may require the intravenous administration of fluids and electrolytes. Other patients may require iron, folate supplements, vitamin D, and calcium. Since most patients with this disorder suffer from malnutrition, the recommended diet is usually high in calories and protein. The diet should be monitored regularly by a physician. While the symptoms of Whipple's Disease may improve rapidly with long-term antibiotic therapy, biopsy may reveal bacteria in the small intestine for up to two years. Whipple's Disease has been completely reversed by antibiotic therapy. The absence of bacilliform (rod shaped bacteria) in a biopsy sample of the small bowel typically suggests remission and possible cure. Therapies: Investigational This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Whipple's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 698, 1560. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 824-5, 829, 801. GASTROINTESTINAL DISEASE, 4TH Ed.; Marvin H. Sleisenger, M.D. et al.; W.B. Saunders Co., 1989. Pp. 1302-06. WHIPPLE'S DISEASE, FAMILIAL MEDITERRANEAN FEVER, AND ADULT-ONSET STILL'S DISEASE. A. McMenemy; Curr Opin Rheumatol (Aug 1991; 3(4)). Pp. 597-600. IDENTIFICATION OF THE UNCULTURED BACILLUS OF WHIPPLE'S DISEASE. D.A. Relman; N Engl J Med (Jul 30, 1992;327(5)). Pp. 293-301. SHORT-TERM ANTIBIOTIC TREATMENT IN WHIPPLE'S DISEASE. J.C. Bai; J Clin Gastroenterol (Jun 1991; 13(3)). Pp. 303-7. Whipple's Disease e tr%5 (5pagetitle 90: Whipple's Disease 04330.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 824: Wieacker Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Wieacker Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Wieacker-Wolff Syndrome WWS Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy Information on the following disorders can be found in the Related Disorders section of this report: Apraxia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Wieacker Syndrome is a rare genetic disorder characterized by deformities of the feet (contracture), muscle atrophy, mild mental retardation and impairment of the ability to move the eyes, face and tongue muscles despite the wish to do so. Symptoms Symptoms of Wieacker Syndrome include deformities of the feet (contracture), slowly progressive atrophy of certain muscles, and mild mental retardation. Other symptoms are impairment or inability to move the eyes despite the wish to do so, and impairment in the use of face and tongue muscles. Wieacker Syndrome affects males and is present at birth. Causes Wieacker Syndrome is inherited as an X-linked recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Wieacker Syndrome is a rare genetic disorder present at birth which affects males. Related Disorders Symptoms of the following disorders can be similar to those of Wieacker Syndrome. Comparisons may be useful for a differential diagnosis: Apraxia is a disorder of brain function characterized by the inability to perform learned movement on command, even though the command is understood and there is a willingness to perform the movement. The affected individual has the physical ability to move, but can not. Apraxia is caused by a lesion in the neural pathways of the brain that contain the learned patterns of movement. It is often a symptom of other neurological disorders. (For more information on this disorder, choose "Apraxia" as your search term in the Rare Disease Database). Therapies: Standard Genetic counseling may be of benefit for patients with Wieacker Syndrome and their families. Other treatment is symptomatic and supportive. Physical therapy, surgery, speech therapy, and special education can be of benefit especially if started as early as possible. Therapies: Investigational Researchers believe that Wieacker Syndrome originates from the long arm of the X chromosome. Genetic studies and research on this disorder are ongoing. Detection of the female carrier condition may be possible in some instances. This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Wieacker Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 1732. A NEW X-LINKED SYNDROME WITH MUSCLE ATROPHY, CONGENITAL CONTRACTURES, AND OCULOMOTOR APRAXIA. P. Wieacker, et al.; Am J Med Genet (Apr 1985; issue 20 (4)). Pp. 597-606. CLOSE LINKAGE OF THE WIEACKER-WOLFF SYNDROME TO THE DNA SEGMENT DXYS IN PROXIMAL Xq. P. Wieacker, et al.; Am J Med Genet (Sept 1987; issue 28 (1)). Pp. 245-253. Wieacker Syndrome loodE pagetitle 824: Wieacker Syndrome 04299.TXT Copyright (C) 1987, 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 446: Tyrosinemia, Hereditary _________________________ ** IMPORTANT ** It is possible the main title of the article (Hereditary Tyrosinemia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Tyrosinemia, Hereditary, Hepatorenal Type Tyrosyluria DISORDER SUBDIVISIONS Acute Form Hereditary Tyrosinemia Chronic Form Hereditary Tyrosinemia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about the disorders, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tyrosinemia is a rare inborn error of metabolism involving the amino acid tyrosine associated with a lack of the enzyme fumarylacetoacetase parahydroxyphenylpyruvic acid (p-HPPA) oxidase. The disorder is characterized by elevated levels of tyrosine and its metabolites (including succinylacetone) in the urine. It causes developmental delay and profound liver dysfunction, kidney problems, and liver cell cancer. There are often neurologic problems causing peripheral nerve palsy and paralysis. Symptoms The acute form of Tyrosinemia starts at birth, and is characterized by failure to thrive and liver enlargement with or without a distended abdomen. Vomiting, swelling (edema), fluid accumulation in the abdomen (dropsy or ascites), and moderate mental retardation may occur in at least half of the cases. Anemia, yellow tinted skin (jaundice), the passing of dark, bloody stools (melena), an enlarged spleen, blood in the urine (hematuria), diarrhea and spontaneous bruising (ecchymoses) occur in nearly one-third of patients with acute Tyrosinemia. The most serious complications involve neurologic crises. The chronic form of hereditary Tyrosinemia occurs in a relatively smaller number of patients. Symptoms develop as a complication of kidney malfunction and may include softened bones (rickets) and a mild liver disease (cirrhosis). Mental retardation and other neurologic abnormalities may also occur. Liver cell cancer also occurs. Causes Tyrosinemia is a hereditary disorder probably transmitted by autosomal recessive genes. The genetic abnormality causes insufficient levels of the enzyme parahydroxyphenylperuvic acid (p-HPPA) oxidase. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Tyrosinemia in the acute form affects approximately one in 100,000 newborns in the United States. Both sexes are affected in equal numbers. The chronic form of this disorder affects far fewer patients than the acute form. Therapies: Standard Prenatal diagnosis of children at risk for Tyrosinemia can be made from identification of amniotic cells in the uterus with a reduced activity of the enzyme fumarylacetoacetase or by detection of succinylacetone in amniotic fluid. The intake of the amino acids phenylalanine and tyrosine must be restricted in the diet of patients with Tyrosinemia. Since these amino acids occur in all foods, the diet must be severely restricted and medical foods or formulas substituted. However, some forms of Tyrosinemia do not respond to dietary restrictions. There are several disorders that mimic Tyrosinemia. Proper diagnosis is essential before long-term dietary treatment is initiated. Liver transplantation has proven to be helpful for severely affected patients. Genetic counseling is highly recommended. Other treatment is symptomatic and supportive. Therapies: Investigational A new drug is being studied for treatment of Hereditary Tyrosinemia. The drug called NTBC is manufactured by ICI and is being supplied by Professor Lindstedt of Gothenburg University in Sweden. For more information physicians may contact: Professor Lindstedt Dept. of Clinical Chemistry Gothenburg University Sahlgren's Hospital S-413 45 Gothenburg, Sweden This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hereditary Tyrosinemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Jess Thoene, M.D. Department of Pediatrics University of Michigan School of Medicine Ann Arbor, MI 48109 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.: McGraw-Hill, 1983. Pp. 288-394. PRENATAL DIAGNOSIS OF HEREDITARY TYROSINEMIA BY DETERMINATION OF FUMARYLACETOACETASE IN CULTURED AMNIOTIC FLUID CELLS: E.A. Kvittingen, et al.; Pediatr Res (April 1985: issue 19,4). Pp. 334-337. Neurologic Crises in Hereditary Tyrosinemia: G. Mitchell, et al.; N Eng J Med (February 15, 1990: issue 322, (7)). Pp. 432-437.... Tyrosinemia, Hereditary pagetitle 446: Tyrosinemia, Hereditary 04300.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 192: Urticaria Pigmentosa _________________________ ** IMPORTANT ** It is possible the main title of the article (Urticaria Pigmentosa) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Xanthelasmoidea Infantile Mastocytosis Perstans Hemorrhagica Urticaria DISORDER SUBDIVISIONS Papular Urticaria Pigmentosa Nodular Urticaria Pigmentosa General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. The most common form of Urticaria Pigmentosa is the papular form which is characterized by itchiness, brown spots (macules), and smooth, slightly elevated areas of different color appearing on the skin. There is progression to pigmentation, followed by the formation of erythema (redness), and edema when the lesions are rubbed. In the nodular form of Urticaria Pigmentosa, scarring is especially prominent. Symptoms Characteristically, persons with Urticaria Pigmentosa have skin lesions which may be itchy due to an excess of mast cells in the skin. Malaise, anorexia (loss of appetite), abdominal pain, flatulence, diarrhea, and pain in the back, chest and joints also may be present. Causes The cause of Urticaria Pigmentosa is unknown. The disorder may be due to an allergic, pseudoleukemic, or metabolic disturbance. Most cells release histamine which causes many of the symptoms. Affected Population Onset of Urticaria Pigmentosa is generally in the first year of life. Lesions usually disappear by adolescence except when Systemic Mastocytosis is present (see section on related disorders). Related Disorders In Systemic Mastocytosis there are multiple confluent spots, papules and nodules in the skin, and pigmentation may be less. Extensive involvement of the mucous membranes of the mouth, nose and rectum, and enlargement of the spleen, liver and lymph nodes also may be present. Edema and shock-like episodes may also occur. Therapies: Standard Treatment of Urticaria Pigmentosa is symptomatic and supportive. Therapies: Investigational Urticaria Pigmentosa has been treated experimentally with oral disodium cromoglycate, the H-2 antihistamine cimetidine (sometimes combined with the H-1 antihistamine chlorpheniramine or the anticholinergic drug propantheline) and with ketotifen. This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Urticaria Pigmentosa, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 310. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1948-51, 2334-5. Urticaria Pigmentosa pagetitle 192: Urticaria Pigmentosa 04301.TXT Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders, Inc. 249: Urticaria, Cholinergic _________________________ ** IMPORTANT ** It is possible that the main title of this article (Cholinergic Urticaria) is not the name you expected. Please check the SYNONYM listing for alternate names and disorder subdivisions covered by this article. Synonyms Information on the following disorders can be found in the Related Disorders section of this report. Physical Urticaria Papular Urticaria Contact Dermatitis Aquagenic Urticaria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cholinergic Urticaria is a skin disorder caused by sensitivity to heat, emotional stress, or exercise in susceptible individuals. It is characterized by red spots (erythema) resembling hives, itching (pruritus), and possibly abdominal cramps, diarrhea, faintness, weakness and sweating. Symptoms The main symptoms of Cholinergic Urticaria are bright red spots (macules) on the skin, itching (pruritus), and hives which are usually 2-5 cm in diameter. Round white ridges form in the center of the macules. These lesions grow together into large red areas. Swelling of eyelids, lips, hands and feet can occur. Abdominal cramps, diarrhea, faintness, weakness and sweating may also be present. Causes Cholinergic Urticaria may result from hypersensitivity to heat such as hot baths, warm rooms and exposure to the sun. Eating hot foods, physical exercise, excitement (any stimulation that causes sweating), and possibly hypersensitivity to acetylcholine, are other causes of Cholinergic Urticaria. Related Disorders Physical Urticaria is a condition in which red allergic hives with itching are produced by exposure to cold temperatures, water or mild trauma. (For more information on this disorder, choose "Physical Urticaria" as your search term in the Rare Disease Database. Papular Urticaria, more commonly known as "hives", is characterized by local elevated ridges (wheals) and redness of the skin, with itching, usually triggered by insect bites, sensitivity to drugs or other environmental causes. (For more information on this disorder, choose "Papular Urticaria" as your search term in the Rare Disease Database.) Contact Dermatitis is an acute or chronic inflammation of the skin, often sharply demarcated, produced by substances in contact with the skin to which a person is allergic. (For more information on this disorder, choose "Contact Dermatitis" as your search term in the Rare Disease Database.) Aquagenic Urticaria is a condition in which red hives with itching are produced by contact with water. Therapies: Standard The use of drugs or cosmetics should be reviewed with the patient, particularly if sensitivity to sunlight (photosensitivity) is suspected. Protection from the cause of the Urticaria is necessary. When photosensitivity is present, avoidance of sunlight is important. The patient should wear protective clothing such as a hat and a long-sleeved shirt when outdoors on a sunny day. Sunscreen preparations may be helpful. For relief of itching, an antihistamine may be of benefit. Hydroxyzine (Atarax) is the preferred drug for Cholinergic urticaria. Anticholinergic drugs are ineffective at tolerable doses. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cholinergic Urticaria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Allergy and Asthma Foundation of America 1835 K Street, N.W., Suite P-900 Washington, DC 20006 (202) 293-2950 Allergy Information Association 25 Poynter Dr., Suite 7 Weston, Ontario, MR9 1K8 Canada NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 495-5717 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1948-51, 2334-5. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 311-2. Urticaria, CholinergicE pagetitle 249: Urticaria, Cholinergic 04302.TXT @!>!Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 565: Urticaria, Cold _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cold Urticaria) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS Idiopathic Cold Urticaria (Familial or Acquired) Primary Idiopathic Cold Urticaria Information on the following diseases can be found in the Related Disorders section of this report: Raynaud's Disease Cold Agglutinin Disease Paroxysmal Cold Hemoglobinuria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cold Urticaria is a chronic, reactive skin disorder. It is probably the most common form of physical urticaria. Major symptoms may include abnormal reddening of the skin (erythema), hives and itching after exposure of the skin to cold temperatures. Symptoms In Cold Urticaria the skin has an abnormal reaction to cold. The skin usually turns red, develops welts and itching. This may be accompanied by fever, headache, anxiety, tiredness, and sometimes even fainting. Some persons may also have palpitations or wheezing. Idiopathic Cold Urticaria may be familial or acquired. Familial Cold Urticaria is a rare condition inherited as an autosomal dominant trait. It consists of burning red skin patches which develop approximately thirty minutes after being exposed to cold weather. This condition may persist for up to forty-eight hours after exposure. It may be accompanied by fever, headache, tiredness, pain in the joints (arthralgia) and the presence of excessive white blood cells (leucocytosis) in the blood. Acquired Cold Urticaria consists of Primary Acquired Cold Urticaria, Delayed Cold Urticaria, Localized Cold Urticaria, Reflex Cold Urticaria or Secondary Cold Urticaria, which are explained below: Primary Acquired Cold Urticaria can occur five to thirty minutes after exposure to cold. The reaction may occur in the cold itself, but more often during the rewarming phase. Itching and reddening of the skin may develop first, followed by a burning sensation. Hives appear, usually lasting thirty minutes. The affected person may also experience headache, palpitations, wheezing or fainting. Delayed Cold Urticaria may appear several hours after contact with the cold. Localized Cold Urticaria has been reported to occur after exposure to cold at the sites of previous ragweed injections for allergies or ladybug bites. Reflex Cold Urticaria is characterized by widespread appearance of welts occuring in response to a drop in body temperature after localized exposure to cold applications (e.g. an ice pack). Secondary Cold Urticaria can occur in connection with various blood disorders associated with viral infections such as Mononucleosis or Syphilis. Causes Cold Urticaria can occur for unknown (idiopathic) reasons, or it may be transmitted as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) It may also be a disease of the autoimmune system. (Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms suddenly begin to attack perfectly healthy tissue.) Exposure of the skin to cold triggers symptoms of the disorder such as cold weather, swimming in cold water or even a cold bath. Affected Population Cold Urticaria affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Cold Urticaria. Comparisons may be useful for a differential diagnosis: Raynaud's Disease is a vascular disorder that is triggered by exposure to cold. It is characterized by spasms of blood vessels occurring especially in the fingers and toes. Intermittent attacks of pain, pallor or blue coloring (cyanosis) of the fingers or toes are precipitated by exposure to cold or by emotional upsets. The attacks last for minutes to hours, but are rarely severe enough to result in tissue loss. Rewarming the affected digits results in normal blood circulation and a return to normal color and sensation. Onset usually occurs in the first or second decade of life. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database). Cold Agglutination Disease is a blood disorder which occurs when the temperature of the blood is below body temperature. It is most pronounced below 25 C. Although it is seen occasionally in the blood of apparently healthy persons, it is more frequent in individuals with scarlet fever, staphylococcal infections, primary atypical pneumonia, certain hemolytic anemias, and trypanosomiasis. Paroxysmal Cold Hemoglobinuria is a disorder that makes the red blood corpuscles abnormally susceptible to antibodies which try to destroy them. It is triggered by exposure to cold. (For more information on thia disorder, chooose "Hemoglobinuria" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Cold Urticaria may include the use of the drugs epinephrine, diphenhydramine, cyproheptadine, hydrochloride and cetirizine. Symptoms may be prevented with the use of warm clothing during cold weather. The avoidance of cold baths, swimming in cold water, etc., is recommended since loss of consciousness may occur, possibly resulting in drowning. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cold Urticaria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy & Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Asthma & Allergy Foundation of America 1717 Massachusetts Avenue NW, Suite 305 Washington, DC 20036 (202) 265-0265 For information about Raynaud's Disease only: Raynaud's Association Trust c/o Bladon Crescent Alsager, Cheshire 5T7 2BG England For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 945, 1058. CLINICAL CHARACTERISTICS OF COLD-INDUCED SYSTEMIC REACTIONS IN THIS COMPLICATION AND A PROPOSAL FOR A DIAGNOSTIC CLASSIFICATION OF COLD URTICARIA. A.A. Wanderer, et al.; J Allergy Clin Immunol (September, 1986, issue 78 (3 Pt. 1)). Pp. 417-423. COLD URTICARIA: RELEASE INTO THE CIRCULATION OF HISTAMINE AND EOSINOPHIL CHEMOTACTIC FACTOR OF ANAPHYLAXIS DURING COLD CHALLENGE. N.A. Soter, et al.; N Engl J Med (March, 1975, issue 294 (13)). Pp. 687-690. INHIBITING EFFECT OF CETIRIZINE ON HISTAMINE-INDUCED AND 48/80-INDUCED WHEALS AND FLARES, EXPERIMENTAL DERMOGRAPHISM, AND COLD-INDUCED URTICARIA. L. Juhlin et al.; J Allergy Clin Immunol (October, 1987, issue 80, (4)). Pp. 599-602. Urticaria, Cold ntalC" F"pagetitle 565: Urticaria, Cold 04303.TXT Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders, Inc. 248: Urticaria, Papular _________________________ ** IMPORTANT ** It is possible the main title of the article (Papular Urticaria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Urticaria Giant Urticaria Hives Lichen Urticatus Angioneurotic Edema Angioedema Quincke Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Papular Urticaria, more commonly known as "hives", is characterized by local elevated ridges (wheals) and redness (erythema) of the skin. This condition is usually triggered by allergic reactions to insect bites, sensitivity to drugs, or other environmental causes. Symptoms The first symptom of Papular Urticaria is usually itching (pruritus). This is followed shortly by the appearance of elevated ridges (wheals) that may remain small or become large. The larger wheals tend to be clear in the center, and may be noticed first as large rings of erythema and edema. Ordinarily, crops of hives come and go. A lesion may remain for several hours, then disappear only to reappear elsewhere. Angioedema is a more diffuse swelling of loose tissue under the skin usually affecting the back of hands or feet, lips, genitalia and mucous membranes. Swelling (edema) of the upper airway may produce respiratory distress, and the high-pitched tone of difficult breathing may be mistaken for asthma. Causes Acute Papular Urticaria and Angioedema are essentially exaggerated allergic reactions limited to the skin and tissues right under the skin (subcutaneous tissues). They may be caused by a drug allergy, insect stings or bites, desensitization injections (allergy shots) or ingestion of certain foods (particularly eggs, shellfish, nuts or fruits) by people who are allergic to these substances. In some cases (such as reactions to strawberries) the reaction may occur only after overindulgence, and possibly result from direct toxic histamine release into the blood. Papular Urticaria may accompany, or even be the first symptom of various virus infections including hepatitis, infectious mononucleosis, or German measles (rubella). Some acute reactions are unexplained, even when recurrent. If acute Angioedema is recurrent, progressive, and never associated with Urticaria, a hereditary enzyme deficiency should be suspected. Affected Population Children from 2 to 7 years are most commonly affected by Papular Urticaria, especially in the summertime when the insect population increases. It is more rare in adults, perhaps in part because adults learn to avoid substances and conditions to which they are allergic. Related Disorders Physical Urticaria is a condition in which red allergic skin lesions and itching are produced by exposure to cold temperatures, water or mild trauma. Cholinergic Urticaria is a condition characterized by red spots on the skin, itching and possibly abdominal cramps, diarrhea, faintness, weakness and sweating. It is caused by sensitivity to heat, sunlight, exercise, etc. For more information on these disorders and other types of urticaria, choose "Urticaria" as your search term in the Rare Disease Database.) Therapies: Standard Acute Papular Urticaria is a self-limited condition that generally subsides in 1 to 7 days. Therefore, treatment is chiefly symptomatic. If the cause is not obvious, all nonessential medication should be stopped until the reaction has subsided. Symptoms such as itching and swelling can usually be relieved with an oral antihistamine. Corticosteroids (e.g. prednisone) may be necessary for the more severe reactions, particularly when associated with angioedema. Topical corticosteroids are of no value. Epinephrine should be the first treatment for acute pharyngeal or laryngeal angioedema. This may be supplemented with local (topical) treatment (e.g. nebulized epinephrine) and an intravenous antihistamine. This usually prevents airway obstruction, but making an opening in the trachea (tracheotomy) and oxygen may be necessary. Although the specific cause of chronic Papular Urticaria can seldom be identified and removed, spontaneous remissions usually occur within 2 years in 50% of cases. Control of stressful life situations often helps. Certain drugs (e.g. aspirin) may aggravate symptoms, as can alcoholic beverages, coffee and tobacco. If so, they should be avoided. When Urticaria is produced by aspirin, sensitivity to related compounds, as well as certain food coloring additives, should be investigated. Oral antihistamines are beneficial in most cases. All reasonable measures should be used before resorting to corticosteroids, which are frequently effective, but have significant side effects after chronic use. A few patients with intractable Urticaria are also found to have a hyperthyroid condition. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Papular Urticaria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Allergy and Asthma Foundation of America 1835 K Street N.W., Suite P-900 Washington, D.C. 20006 (202) 293-2950 Allergy Information Association 25 Poynter Dr., Suite 7 Weston, Ontario, MR9 1K8 Canada NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1948-51. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 308. Urticaria, Papular pagetitle 248: Urticaria, Papular 04304.TXT Copyright (C) 1986, 1987, 1989, 1992, 1993 National Organization for Rare Disorders, Inc. 250: Urticaria, Physical _________________________ ** IMPORTANT ** It is possible the main title of the article (Physical Urticaria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cold Urticaria Dermographism Dermatographia Autographism Physical Allergy Aquagenic Urticaria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Physical urticaria is a condition in which red (erythematous) allergic skin lesions and itching (pruritus) are produced by exposure to cold temperatures, water, or mild trauma. The disorder occurs most commonly in infants. Symptoms The most common symptoms of Physical Urticaria are itching (pruritus) and hives consisting of red rings around white ridges (wheals). Sensitivity to cold is usually manifested by these eruptions on the skin, itching, and swelling under the skin (angioedema). These symptoms develop most typically after exposure to cold is terminated and during or after swimming or bathing. Contraction of the muscles around the bronchi (bronchospasm) and even histamine-mediated shock may occur in extreme cases. If this happens during swimming, drowning may present a danger. Sensitivity to cold can be passively transferred with serum that contains a specific immunoglobulin (IgE) antibody, suggesting an allergic reaction involving a physically altered skin protein as the cause of the allergic reaction. The serum of a few patients with cold-induced symptoms of Physical Urticaria contains cryoglobulins or cryofibrinogen; these abnormal proteins can also be associated with a serious underlying disorder such as a malignancy, a collagen vascular disease, or chronic infection. Cold may aggravate asthma or vasomotor rhinitis, but Cold Urticaria is independent of any other known allergic tendencies. Dermatographia, dermographism or autographism, can be demonstrated by scratching or firmly stroking the skin. Occasionally it is the first sign of an urticarial drug reaction. Physical Urticaria has also occurred following persistent vibration of the skin, and even after exposure to water (aquagenic urticaria). Causes The underlying cause of Physical Urticaria is unknown in most cases. It tends to occur in families, suggesting a possible genetic transmission. Affected Population Cold Urticaria occurs most often in infants, although it sometimes occurs in adults. Related Disorders Cholinergic Urticaria is a condition characterized by red spots on the skin, hives, itching and sometimes abdominal cramps, diarrhea, faintness, weakness and sweating. It is caused by sensitivity to heat, sunlight, exercise, etc. Papular Urticaria, more commonly known as "hives", is characterized by local elevated ridges (wheals) and redness (erythema) of the skin, usually caused by allergic reactions to insect bites , sensitivity to drugs or other environmental causes. Aquagenic Urticaria is an itching condition caused by exposure to water. Contact Dermatitis is an acute or chronic inflammation of the skin, often sharply demarcated, produced by substances in contact with the skin to which a person is allergic. For more information on these disorders, choose "Urticaria" and "Contact Dermatitis" as your search terms in the Rare Disease Database.) Therapies: Standard Protection from the physical cause of the allergy is necessary. Symptoms such as itching and swelling can usually be relieved with an oral antihistamine. Aquagenic Urticaria can be effectively treated with injections of intramuscular Triamcinolone Acetonide, a systemic steroid, that eliminates itching for several months before treatment is again necessary. Therapies: Investigational Clinical trials are underway to study allergic reactions to Aspartame and to describe their reactions. Interested persons may wish to contact: Dr. Andrew Saxon UCLA School of Medicine 10833 LeConte Ave., Rm. 52-175 Los Angeles, CA 825-3718 (213) 825-3718 to see if further patients are needed for this research. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Physical Urticaria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Allergy and Asthma Foundation of America 1835 K Street N.W., Suite P-900 Washington, D.C. 20006 (202) 293-2950 Allergy Information Association 25 Poynter Dr., Suite 7 Weston, Ontario MR9 1K8 Canada NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 311. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1948-51, 2334-5. Urticaria, Physical pagetitle 250: Urticaria, Physical 04305.TXT .}.Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc. 529: Usher's Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Usher Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Hereditary Deafness-Retinitis Pigmentosa Retinitis Pigmentosa and Congenital Deafness DISORDER SUBDIVISIONS: Type I Usher Type II Usher Type III Usher Type IV Usher Information on the following diseases can be found in the Related Disorders section of this report: Retinitis Pigmentosa Hallgren Syndrome Alstrom Syndrome Rubella General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Usher's Syndrome is a genetic disorder primarily characterized by deafness accompanied by Retinitis Pigmentosa, a disorder that causes progressive loss of vision. The age at which the disorder appears as well as severity of symptoms distinguishes the four types of Usher's Syndrome. Symptoms Usher's Syndrome is characterized by nerve deafness (sensorineural hearing loss) as well as Retinitis Pigmentosa, a disorder that causes degeneration of the retina leading to progressive loss of vision. The nerve deafness may be complete or mild, and usually does not progress. The Retinitis Pigmentosa can begin during childhood or later in life. Studies show that clear central vision may be maintained for many years even while side (peripheral) vision decreases. In some cases, these symptoms may be accompanied by mental deficiencies, psychosis, disturbances in walking related to inner ear problems, or cataracts. Type I Usher's Syndrome is characterized by complete hearing loss at birth, vision problems beginning at approximately the age of ten, development of night blindness at approximately twenty years of age, and progressive loss of peripheral vision. Type II Usher's Syndrome is identified by moderate to complete hearing loss at birth, and the onset of Retinitis Pigmentosa during the late teens or early twenties. Night blindness usually begins during the late twenties or thirties. Type III Usher's Syndrome usually begins at puberty with progressive hearing loss. Retinitis Pigmentosa begins much later in life. Type IV Usher's Syndrome predominately affects males and is also characterized by hearing loss and progressive vision disturbances. This is an extremely rare form of Usher's Syndrome and is thought to be inherited as an X-Linked trait. Causes Usher's Syndrome is inherited as an autosomal recessive trait in types I, II and III. Type IV Usher's Syndrome is thought to be inherited as an X-Linked recessive trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. The exact reason for the hearing and vision loss in Usher's Syndrome is not well understood. Persons with Usher Syndrome may have a hypersensitivity to compounds which could damage chromosomal components known as DNA. This suggests a defective DNA repair mechanism. Immune system disturbances are also thought to be associated with Usher Syndrome, although the exact process is not well understood. In 1989 researchers discovered the chromosome marker for Type II Usher Syndrome. This is expected to lead to the isolation of the genes that cause this disorder, identification of gene carriers, and perhaps, prenatal tests. Affected Population Usher's Syndrome affects approximately five to ten in 100,000 people worldwide. Higher than normal numbers of people with Usher's Syndrome have been found among Jewish people in Berlin, Germany; French Canadians of Louisiana; Argentineans of Spanish descent; and Nigerian Africans. Related Disorders Symptoms of the following disorders can be similar to those of Usher Syndrome. Comparisons may be useful for a differential diagnosis: Hallgren Syndrome is also known as Graefe-Sjogren Syndrome. Deafness at birth is accompanied by progressive vision impairment including nystagmus and cataracts. Additional symptoms are psychomotor retardation, vestibulocerebellar ataxia, mental deficiency and psychosis. Alstrom Syndrome is an inherited disorder characterized by retinal degeneration with nystagmus and loss of central vision. This disorder is associated with obesity in childhood. Nerve deafness and Diabetes Mellitus tend to develop after the age of ten years. Rubella is more commonly known as German measles. This acute viral disorder is of concern when contracted during the first three months of pregnancy because it can cause fetal abnormalities. These abnormalities may include hearing loss and/or vision disturbances as well as developmental malformations. (For more information on this disorder, choose "Measles" as your search term in the Rare Disease Database). The following disorder is associated with Usher's Syndrome as a symptom complex. It is not necessary for a differential diagnosis because it may start years after onset of nerve deafness. Retinitis Pigmentosa (RP) is one of a group of inherited eye diseases causing degeneration of the retina. When the retina degenerates, as in RP, the vision decreases and may occasionally be lost. Retinitis Pigmentosa may be associated with other symptoms such as central nervous system disorders, metabolic disorders and even chromosomal abnormalities such as Turner's Syndrome. (For more information on these disorders, choose "RP" and "Turner" as your search terms in the Rare Disease Database.) Therapies: Standard Treatment of Usher's Syndrome is symptomatic and supportive. Agencies which provide services to individuals with hearing and vision loss can be helpful. Surgery to remove cataracts in conjunction with intraocular lens implantation may improve vision problems in some cases. Genetic counseling is recommended for patients and their families. It is important to identify as early as possible whether a deaf child may have Usher's Syndrome. If vision loss occurs later in life, teaching a child sign language may have little value as a communication aid during adulthood. Therefore, educational methods and options should be chosen carefully during school years. Therapies: Investigational Scientists are currently studying Usher's Syndrome to identify the location of the defective gene and a chromosomal marker. Once this gene is identified, researchers may then be able to develop effective treatment. This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Usher's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 RP Foundation Fighting Blindness 1401 Mt. Royal Avenue Baltimore, MD 21217 (800) 638-2300 (301) 225-9400 Alexander Graham Bell Association for the Deaf 3417 Volta, NW Washington, DC 20007 (202) 337-5220 For Trained Hearing Dogs: American Humane Association P.O. Box 1266 Denver, CO 80201 Deafness Research Foundation 55 East 34th Street New York, NY 10016 (212) 684-6556 National Information Center on Deafness Gallaudet College Kendall Green Washington, DC 20002 voice & tdd phone (202) 651-5109 American Society for Deaf Children 814 Thayer Avenue Silver Spring, MD 20910 (301) 585-5400 Voice/TTY NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 NIH/National Institute of Deafness & Other Communication Disorders (NIDCD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 National Federation of the Blind 1800 Johnson Street Baltimore, MD 21230 (301) 659-9314 1-800-638-7518 American Council of the Blind, Inc. (ACB) 1155 - 15th St., NW, Suite 720 Washington, D.C. 20005 (202) 467-5081 (800) 424-8666 American Foundation for the Blind (AFB) 15 W. 16th St. New York, NY 10011 (212) 620-2000 Regional offices: Atlanta, GA (404) 525-2303 Chicago, IL (312) 245-9961 Dallas, TX (214) 352-7222 San Francisco, CA (415) 392-4845 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles: MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1293, 1450. FIGHTING BLINDNESS NEWS, RP Foundation Fighting Blindness; Winter 1987-1988 Newsletter. Pp. 2-4. RADIATION SENSITIVITY OF FIBROBLAST STRAINS FROM PATIENTS WITH USHER'S SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, AND HUNTINGTON'S DISEASE: J. Nove, et al.; Mutat Res (July 1987, issue 184(1) ). Pp. 29-38. USHER'S SYNDROME. OPHTHALMIC AND NEURO-OTOLOGIC FINDINGS SUGGESTING GENETIC HETEROGENEITY: G.A. Fishman, et al.; Arch Ophthalmol (September 1983, issue 101(9) ). Pp. 1367-74. CATARACT EXTRACTION AND INTRAOCULAR LENS IMPLANTATION IN PATIENTS WITH RETINITIS PIGMENTOSA OR USHER'S SYNDROME: D.A. Newsome, et al.; Arch Ophthalmol (June 1986, issue 104(6)). Pp. 852-854. Usher's Syndrome /pagetitle 529: Usher's Syndrome 04306.TXT Copyright (C) 1987, 1989, 1992 National Organization for Rare Disorders, Inc. 486: VACTERL Association _________________________ ** IMPORTANT ** It is possible the main title of the article (VACTERL Association) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms VACTERL Syndrome VACTERL Association VACTERL is the acronym for: (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)racheo(E)sophageal fistula, (R)enal anomalies, radial dysplasia, and other (L)imb defects DISORDER SUBDIVISIONS VATER Association : (V)ertebral defects, (A)nal atresia, (T)racheoesophageal fistula with (E)sophageal atresia, and (R)adial dysplasia. Information on the following diseases can be found in the Related Disorders section of this report: REAR Syndrome Townes-Brocks Syndrome Holt-Oram Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)racheo(E)sophageal fistula, (R)enal anomalies, radial dysplasia, and other (L)imb defects. Abnormalities are present at birth. Symptoms occur in various combinations and can be manifestations of several recognized disorders. Related disorders such as the VATER Association and the REAR Syndrome, which are composed of some of the same symptoms, have been expanded into the VACTERL Association. Nearly all cases have occurred sporadically, although some familial cases have been identified. Occasionally, other abnormalities may accompany this association of symptoms. Symptoms Vertebral anomalies of the VACTERL Association can include divided spinal disks, incomplete or half-developed spinal disks, and developmental abnormalities of the tailbone (sacrum) which is the lowest section of the vertebral column comprising part of the pelvis. The absence of a normal opening (atresia) in the anus can also occur. Abnormal passages from hollow organs to the body surface or to another organ (fistulas) can develop between the lower section of the rectum and the urethra (in males), or the vagina (in females). Fistulas may occasionally be found in conjunction with congenital absence of the anus, usually in the upper section of the rectum. The most common heart (cardiac) abnormality is Ventricular Septal Defect, which is a congenital defect in the wall (septum) between the two ventricles of the heart, usually resulting from failure of the spiral septum to close the interventricular aperture (foramen) normally. (For more information on this disorder, please choose "Ventricular Septal Defect" as your search term in the Rare Disease Database.) Abnormal passages or openings (fistulas) can also occur between the windpipe (trachea) and/or upper digestive tract (tracheo-esophageal fistula). Occasionally, the esophagus may be absent at birth. The most common kidney abnormality is the inborn absence (agenesis) of the kidneys. In other cases, the kidney tissue may be over-developed. Radial limb dysplasia includes any defect involving the radial side of the arm such as underdevelopment of the thumb, the presence of three bones (triphalangeal) in the thumb instead of the normal two, the presence of extra fingers on one hand (polydactyly), and/or absence of some of the fingers. Some persons with VACTERL Association may not grow at a normal rate, but mental development is usually normal. Causes VACTERL Association is a combination of developmental abnormalities which are thought to occur sporadically. However, some scientists believe some cases to be genetic. Abnormalities are presumed to be defects in the middle (mesodermal) of three primary layers of the embryo during fetal development due to a variety of causes. Affected Population VACTERL Association is a very rare combination of developmental abnormalities which affects males in slightly greater numbers than females. Related Disorders Symptoms of the following disorders can be similar to those of VACTERL Association. Comparisons may be useful for a differential diagnosis: REAR Syndrome is an acronym for (R)enal anomalies, deformed external (E)ars and perceptive deafness, (A)nal stenosis, and (R)adial dysplasia. Underdeveloped kidneys are the most common renal abnormalities. The external ears are abnormally developed and deafness is present at birth. The anus is constricted or smaller than normal and other anal abnormalities can also occur. Abnormal tissue development is present in the area of the bone in the forearm (radius) or upper arm. Townes-Brocks Syndrome is characterized by the congenital lack of an anal opening in association with hand, foot and ear abnormalities. An extra joint in the thumb (triphalangeal thumb) and/or an extra thumb can be present. In the feet, fusion of the long bones (metatarsals) may occur, or some bones may be absent. External ears can be abnormally large or "lopping" and mild sensorineural deafness can occur. Holt-Oram Syndrome, also known as Atriodigital Dysplasia or Heart-Hand Syndrome, is a genetic disorder comprised of atrial septal defect in association with hand and forearm deformities. Therapies: Standard Treatment of VACTERL Association by successive surgical rehabilitation of malformations is often useful. Other treatment is symptomatic and supportive. Therapies: Investigational The Titanium Rib Project is underway to implant expandable ribs in patients with disorders involving missing, underdeveloped or otherwise malformed rib cages, ribs or chest walls. Absent areas due to surgery or birth defects, fused ribs or hypoplastic chests may be improved using the titanium ribs which can be expanded as the child grows. Interested persons may contact: Dr. Robert Campbell Santa Rosa Children's Hospital 519 W. Houston St. San Antonio, TX 78207-3198 (512) 567-5125 This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on VACTERL Association, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Center for Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 67, 752. A POPULATION STUDY OF THE VACTERL ASSOCIATION: EVIDENCE FOR ITS ETIOLOGIC HETEROGENEITY: M.J. Khoury, et al.; Pediatrics (May 1983, issue 71(5)). Pp. 815-820. TRACHEAL AGENESIS AND ASSOCIATED MALFORMATIONS: A COMPARISON WITH TRACHEOESOPHAGEAL FISTULA AND THE VACTERL ASSOCIATION: J.A. Evans, et al.; Am J Med Genet (May 1985, issue 21(1)). Pp. 21-38. TOWNES SYNDROME. A DISTINCT MULTIPLE MALFORMATION SYNDROME RESEMBLING VACTERL ASSOCIATION: J.H. Hersh, et al.; Clin Pediatr (Phila) (February 1986, issue 25(2)). Pp. 100-102. VACTERL Association pagetitle 486: VACTERL Association 04307.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 627: Valinemia _________________________ ** IMPORTANT ** It is possible that the main title of this article (Valinemia) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Hypervalinemia Valine Transaminase Deficiency General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Valinemia is a very rare metabolic disorder. It is characterized by elevated levels of the amino acid valine in the blood and urine caused by a deficiency of the enzyme valine transaminase. This enzyme is needed in the breakdown (metabolism) of valine. Infants with valinemia usually have a lack of appetite, vomit frequently, and fail to thrive. Low muscle tone (hypotonia) and hyperactivity also occur. Symptoms Valinemia is usually present at birth. Symptoms include lack of appetite, frequent vomiting, and failure to thrive. The levels of the amino acid valine in the blood and urine are elevated. Abnormally low muscle tone, excessive drowsiness, and/or hyperactivity can also occur. A diet low in valine introduced during early infancy usually improves symptoms of valinemia, and lowers the valine concentrations in the blood to normal levels. Causes Valinemia is thought to be a genetic disorder inherited through recessive genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, he or she will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Affected Population Valinemia is a very rare disorder, occurring in less than 200 persons in the United States. It is present in affected infants at birth. Therapies: Standard Valinemia is treated by following a diet low in the amino acid valine with appropriate monitoring to avoid symptoms of valine deficiency. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Valinemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References A SIBSHIP WITH HYPERVALINEMIA: O.S. Reddi, et al.; Human Genet (2 November 1977: issue 39(1)). Pp. 139-142. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds; McGraw Hill, 1983. Pp. 450-451. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 1294.... Valinemia pagetitle 627: Valinemia 04308.TXT Copyright (C) 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 686: Varicella Zoster Virus _________________________ ** IMPORTANT ** It is possible that the main title of the article (Varicella Zoster Virus) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Chickenpox Shingles-herpes Zoster Information on the following diseases can be found in the Related Disorders section of this report: Herpes Simplex (Cold Sores, Fever Blisters and Genital Herpes) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. The varicella-zoster virus is a common herpes virus that causes chickenpox during childhood, and shingles (herpes zoster) during adulthood. Symptoms The varicella-zoster virus causes chickenpox in children. After exposure to, the virus, the incubation period is between 11 to 21 days. The severity of the chickenpox ranges from a slight rash to many hundreds of blisters and a fever as high as 105 degrees F. Chickenpox symptoms begin with a slight fever, sore throat, runny nose and a general feeling of discomfort. This precedes the rash by a few days. The rash first appears on the back and chest, quickly covering the body. Spots may also appear in the mucous membranes such as those of the mouth, vagina or in the ears. The rash develops quickly into clear, oval blisters of various sizes. These soon become cloudy in color and within three to four days turn to scabs. It may take another week for the scabs to fall off. After the rash first appears, it will continue to erupt for three to four days, and is often very itchy. During this time, and until all the lesions are scabbed over a child with chickenpox is still contagious, and should be kept isolated. Chickenpox dan be life-threatening to children with a compromised immune system such as cancer patients undergoing chemotherapy, or asthmatics taking steroid drugs for prolonged periods. Shingles (herpes zoster) occurs when the varicella-zoster virus is re-activated for unknown reasons. It is a non-seasonal infection occuring most often in older people and in those whose immune system is suppressed. Non immune individuals, especially children, may develop chickenpox after contact with a person who has active herpes-zoster virus. Shingles first appears as a rash, similar to chickenpox, but finer in appearance. The rash usually occurs on one side of the body or face, in an area involving one particular spinal nerve. The nerve pain (neuralgia), can persist for several months or even years. (For more information on this disorder, choose "Shingles" as your search term in the Rare Disease Database.) Causes The varicella-zoster virus is a member of the herpes virus family. It is transmitted in the form of airborne droplets. Affected Population Chickenpox affects males and females in equal numbers. It is most common in between the ages of 5 and 9. Shingles usually occurs in adults over the age of 50. These disorders are very prevalent in the United States and throughout the world. Related Disorders Symptoms of the following disorders can be similar to those of Varicella Zoster Virus. Comparisons may be useful for a differential diagnosis: Cold Sore and Fever Blisters are a common, recurrent infection by the herpes simplex virus. There are two types of Herpes Simplex. Type 1 causes infections around the lips and in the cornea. It is characterized by the appearance on the skin or mucous membranes of clusters of small blisters, filled with clear fluid on slightly red bases. Type 2 usually affects the genital area and is transmitted primarily by direct contact with lesions, most often during sexual intercourse. (For more information on this disorder, choose "Herpes Simplex" as your search term in the Rare Disease Database.) Therapies: Standard There is no specific treatment for Chickenpox. However, Calamine lotion has a soothing and drying effect on the rash and an antihistamine drug may be prescribed to reduce the itchiness. It is most important to keep the patient from scratching the blisters and scabs, because scarring and further infection can result. Acetaminophen, given every 4 hours will help reduce the fever and headache. Aspirin should NOT be given to children with Chickenpox because it can cause Reye's Syndrome. (For more information concerning this disorder, choose "Reye" as your search term in the Rare Disease Database.) There is no specific treatment for Shingles. Anesthetic medications for the rash, and aspirin or other analgesics for the nerve pain may be prescribed. Corticosteroids (if given early), may relieve pain in severe cases. Locally applied wet compresses may be soothing. For immunosuppressed patients, antiviral drugs, such as acyclovir and vidarabine have been used, with acyclovir found to be the most effective. Until a vaccine for chicken pox becomes commercially available, children with a compromised immune system should guard against exposure to the Varicella Zoster Virus. Therapies: Investigational Clinical trials are being conducted on the experimental drug Arabinosyl adenine (ARA-A) for treatment of Herpes Zoster (Shingles). A Chicken Pox vaccine is being tested by Merck, Sharp & Dohme. (For more information on this disorder, choose "Shingles" in the Rare Disease Database. Scientists are studying the effectiveness of the antiviral drug, acyclovir, in the treatment of children with Chicken Pox. The drug seems to speed up the recovery time of patients with the disease. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Varicella Zoster Virus, please contact National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 303332 (404) 639-3534 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301)496-5717 References INTERNAL MEDICINE, 2nd Ed.: Section 7; Merle A Sande, M.D.; Little, Brown and Co., 1987. Pp. 1605. THE COLUMBIA UNIVERSITY COLLEGE OF PHYSICIANS AND SURGEONS COMPLETE HOME MEDICAL GUIDE, Stephen Atwood, M.D.; Crown Publishers Inc., 1985. Pp. 222. THE WORLD BOOK MEDICAL ENCYCLOPEDIA, Your Guide To Good Health; Stuart Levin, M.D., World Book Inc., 1988. Pp. 172. NIH CONFERENCE VARICELLA -ZOSTER VIRUS INFECTIONS. BIOLOGY, NATURAL HISTORY, TREATMENT, AND PREVENTION. SE Strauss, et al.; ANN INTERN MED (February, 1988 (August 29, 1988, issue 198(2)). Pp. 221-237. CURRENT THERAPY OF VARICELLA-ZOSTER VIRUS INFECTION IN IMMUNOCOMPROMISED PATIENTS. A COMPARISON OF ACYCLOVIR AND VIDARBINE. DH Shepp et al.; AM J MED 1988 (August 29, 1988; issue 85(2A)). Pp.96-98 IMMUNIZATION OF HEALTHY ADULTS WITH LIVE ATTENUATED VARICELLA VACCINE. AA Gershon et al.; J INFECT DIS (July 1988; issue 158(1)). Pp. 132-13. LIVE ATTENUATED VARICELLA VACCINE IN HEALTHY 12-to-24 MONTH OLD CHILDREN. CE Johnson et al.; PEDIATRICS (April 1988; issue 81(4)). Pp. 512-518. Varicella Zoster Virus pagetitle 686: Varicella Zoster Virus 04309.TXT $Copyright (C) 1989 National Organization for Rare Disorders, Inc. 642: Vascular Malformations of the Brain _________________________ ** IMPORTANT ** It is possible that the main title of the article (Vascular Malformations of the Brain) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Intracranial Vascular Malformations Occult Intracranial Vascular Malformations Cerebral Malformations Disorder Subdivisions: Arteriovenous Malformations Cavernous Malformations Venous Malformations Telangiectasias Information on the following diseases can be found in the Related Disorders section of this report: Moyamoya Disease Cerebrovascular Accident (Stroke) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Vascular Malformations of the Brain are conditions that affect the blood vessels in the brain. They may be classified into four groups: Arteriovenous Malformations (abnormal arteries and veins), Cavernous Malformations (enlarged blood-filled spaces), Venous Malformations (abnormal veins), and the Telangiectasias (enlarged capillary-sized vessels). Symptoms and progression of these disorders vary with the type and severity of the malformations. Symptoms Vascular Malformations of the Brain may cause headaches, seizures, strokes, or bleeding in the brain (cerebral hemorrhage). Some researchers believe that the type of malformation determines the symptoms and progression of the disease. Other researchers believe that only the severity rather than the type of malformation is important. Arteriovenous Malformations or AVM's affect arteries, veins, and middle-sized vessels but not capillaries. These blood vessels are enlarged and twisted. Arteries and veins may be connected directly instead of being connected through fine capillaries. (For more information on this disorder choose "Arteriovenous" for your search term in the Rare Disease Database.) Cavernous Malformations consist of abnormally enlarged collections of blood-filled spaces. Cavernous Malformations may also be called Cavernous Angiomas or Cavernous Hemangiomas. Venous Malformations involve only the veins; they vary in size but do not involve the arteries. The veins may be enlarged and twisted. These abnormal veins may compensate for a lack of normal veins in another area of the brain. Telangiectasias result from enlarged openings (dilation) of capillary-sized vessels. Telangiectasias may occur on the face, eyes, membranes that cover the brain and spinal cord (meninges), and mucous membranes (the thin moist layer lining the body's internal surfaces). Causes The cause of Vascular Malformations of the Brain may be either congenital or acquired. It may be inherited as an autosomal dominant trait with variable expression and incomplete penetrance. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Incomplete penetrance means that all characteristics of a particular trait may not be manifested in all those who inherit the gene. Malformations may also be the result of an injury or trauma. Symptoms may appear because the injured blood vessels may have very small malformations or lesions, a blood clot (thrombosis) may slow the blood flow, or slight bleeding may effect nearby tissues in the brain. Affected Population Vascular Malformations of the Brain affect males and females in equal numbers. A hereditary form of Cavernous Malformations tends to occur more frequently in Mexican-Americans. Arteriovenous Malformations occur more frequently in males. Related Disorders Symptoms of the following disorders can be similar to those of Vascular Malformations of the Brain. Comparisons may be useful for a differential diagnosis: Cerebrovascular Accidents (Strokes) occur because the blood supply to the brain has been cut off or decreased. Thrombotic strokes occur when a clot has narrowed or completely closed an artery in the neck or head. This is usually the result of the buildup of fat-containing materials and calcium (plaque) on the inner linings of the blood vessels (atherosclerosis or hardening of the arteries). Embolic strokes occur when a clot breaks away from a diseased artery in another part of the body or the heart and clogs a smaller artery in the brain. Hemorrhagic strokes occur when a blood vessel ruptures in or around the brain, depriving that area of circulating blood. Each type of stroke has its own symptoms, progression, and prognosis. Clumsiness, headaches, speech difficulties, weakness or paralysis of one or both sides of the body may occur. Stiff neck, nausea, vomiting, and loss of consciousness are also common symptoms. Moyamoya Disease is a progressive disease that effects blood vessels in the brain (cerebrovascular). It is characterized by narrowing and/or closing of the main artery to the brain (carotid) which decreases the blood supply. This lack of blood may cause semi- or complete paralysis of the feet, legs or the upper extremities. Cerebral bleeding, convulsions, headaches, various vision problems, mental deficiencies, and psychiatric problems may also occur. (For more information on this disorder, choose "Moyamoya" as your search term in the Rare Disease Database. Therapies: Standard Imaging machines such as Digital Intravenous Computerized or Common Angiography, Magnetic Resonance Imaging (MRI), Computed Tomography (CT) Scans, and Venograms can take pictures of the brain's blood vessels to see if Vascular Malformations are present. Current treatment options vary according to the severity and location of the malformation. Surgical Removal (Resection), Multiple Embolization (an operation in which pellets are put into the circulatory system in order to block the abnormal blood vessels), and Irradiation are the treatments currently in use. In some cases treatment may not be necessary. Genetic counseling may be of benefit for patients and their families if they have a hereditary form of this disorder. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers are investigating several types of surgery that may be effective in treating Vascular Malformations of the Brain. Charged-Particle Radiosurgery, Interventriculostomy, and Catheter Placement are being studied. Charged-Particle Radiosurgery involves a needlelike surgical instrument which uses charged particles to cut tissue, to sterilize the edges of the wound, and to seal cut blood vessels. Interventriculostomy involves creating an opening in the brain to drain fluid. Catheters may be placed in the brain to drain any excess fluid and to collapse the malformed vessels. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Vascular Malformations of the Brain, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10505 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References VASCULAR MALFORMATIONS OF THE BRAIN: B.M. Stein & J.P Mohr; N Engl J Med (August 11, 1988: issue 319(6)). Pp. 368-370. CEREBRAL CAVERNOUS MALFORMATIONS: INCIDENCE AND FAMILIAL OCCURRENCE: D. Rigamonti et al.; N Engl J Med (August 11, 1988: issue 319(6)). Pp. 343-347. CLINICAL, RADIOLOGICAL, AND PATHOLOGICAL SPECTRUM OF ANGIOGRAPHICALLY OCCULT INTRACRANIAL VASCULAR MALFORMATIONS. ANALYSIS OF 21 CASES AND REVIEW OF THE LITERATURE: R.D. Lobato et al.; J Neurosurg (April, 1988: issue 68(4)). Pp. 518-531. Vascular Malformations of the Brain e. 7% :%pagetitle 642: Vascular Malformations of the Brain 04310.TXT 5Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc. 705: Vasculitis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Vasculitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Angiitis Information on the following diseases can be found in the Related Disorders section of this report: Group of Systemic Polyarteritis Nodosa Necrotizing Vasculitis Hypersensitivity Vasculitis Wegener's Granulomatosis Lymphomatoid Granulomatosis Giant-Cell Arteritis Thromboangiitis Obliterans (Buerger's Disease) Mucocutaneous Lymph Node Syndrome Miscellaneous Vasculitides Systemic Lupus Erythromatosus Churg-Strauss Syndrome Purpura, Schoenlein-Henoch Behcet's Syndrome Goodpasture Syndrome Kawasaki Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Vasculitis is an inflammation of the blood vessel system which includes the veins, arteries and capillaries. It may occur alone or in conjunction with allergic and rheumatic diseases. Symptoms Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls. This inflammation causes a narrowing of the inside of the vessel and can obstruct the flow of blood to the tissues (ischemia). The lack of blood may cause damage to the tissues (necrosis), possible formation of blood clots (thrombosis), a weakening or ballooning which can possibly cause a rupture of the vessel wall (aneurysm). Arteries and veins of all sizes and in all parts of the body may be affected. Vasculitis may be localized or affect multiple areas of the body with inflammatory and destructive lesions. It may occur alone or as a complication of many other disorders. The symptoms of Vasculitis are many because of the wide variety of body systems it can affect. Depending on the system involved there may be muscle pain, joint pain, fever, weight loss, loss of appetite (anorexia), headache, or generalized weakness. There may also be ulcers of the mouth, hoarseness, night sweats, high blood pressure (hypertension), abdominal pain, diarrhea, blood in the urine (hematuria), or kidney (renal) failure. Eye inflammation and blurred vision are also symptomatic, and in very severe cases blindness can occur. When the respiratory system is involved there may be an inflammation of the sinuses, runny nose, asthma, a cough with or without bleeding (hemoptysis), shortness of breath (dyspnea), nosebleeds (epistaxis), or an inflammation of the membranes of the lungs. When Vasculitis affects the skin there may be lesions that are flat and red (macules), nodules, and hemorrhages under the skin (purpura). These lesions may occur on any area of the body but are seen more frequently on the back, hands, buttocks, the inside area of the forearms and the lower extremities. These skin symptoms may occur only once or at regular intervals. They will usually last for several weeks and may leave darkened spots or scarring. In some cases of Vasculitis there may be wheel-like lesions that cause intense itching (urticaria), or ring-shaped lesions and ulcers. Blister-like lesions (vesicles, bullae) may develop in severe cases. Because of the wide range of symptoms and body systems involved, an extensive history and physical exam is needed before a clear diagnosis of the type of Vasculitis can be made. In some cases, an x-ray of the blood vessels using dye (angiogram), or a biopsy of the affected organ may be recommended to give an accurate diagnosis and to insure proper treatment. Causes Since there are many forms of Vasculitis, there are many causes. Some types may be caused by allergic reactions or hypersensitivity to certain medications such as sulfa or penicillin, other drugs, toxins, and other inhaled environmental irritants. Other forms may occur because of a fungal infection, parasites or viral infections, while in some cases there may be no apparent cause. In some instances vasculitis may be an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.) against invading organisms suddenly begin to attack healthy tissue. Affected Population Vasculitis usually affects males and females in equal numbers. It is most commonly seen in the elderly. Related Disorders The following are diseases that can be associated with Vasculitis: Polyarteritis Nodosa is a group of systemic necrotizing vasculitis including the original classic polyarteritis nodosa, allergic granulomatosis, and those disorders that have the characteristics of both (an overlap syndrome). For more information on this disorder, choose "Polyarteritis" as your search term in the Rare Disease Database.) Hypersensitivity Vasculitis includes a wide group of vasculitic syndromes that affect the upper and lower respiratory tract and kidneys. They are usually caused by an allergic reaction to an unknown antigen. Giant Cell Arteritis includes several forms of Vasculitis that characteristically involves one or more branches of the carotid artery, in particular the temporal artery. There may be involvement of other blood vessels. (For more information on these disorders, choose "Arteritis "or "Takayasu" as your search terms in the Rare Disease Database.) Wegener's Granulomatosis is a rare collagen vascular disorder that begins as a localized inflammation of the upper and lower respiratory tract mucosa, and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidneys (glomulonephritis). (For more information on this disorder choose "Wegener" as your search term in the Rare Disease Database.) Lymphomatoid Granulomatosis is a more severe form of Vasculitis that infiltrates various tissues of the body, especially the lungs. It can be benign or malignant. Thromboangiitis Obliterans (Buerger's Disease) is a rare inflammatory disorder that usually affects the medium and small arteries of the upper lower extremities. It is more common in males and is closely related to smoking. Mucocutaneous Lymph Node Syndrome is an acute, non progressive, inflammatory illness that is unresponsive to antibiotics and affects infants and children. It is characterized by fever, enlarged lymph nodes in the neck (cervical adenitis), swelling of the skin (edema), flushing of the oral cavity, lips and palms of the hands, and shedding of the skin on the fingertips. In more severe cases there may be an inflammation of the arteries of the heart (coronary arteritis). Miscellaneous Vasculitides is a group of syndromes in which vasculitis is either the primary disorder or a symptom of another disease. Churg-Strauss Syndrome is a lung disorder often occuring as a complication of other disorders. Allergic blood vessel inflammation (angiitis or vasculitis) is accompanied by many inflammatory nodular lesions (granulomatosis) which may be small or granular, and are made up of compactly grouped cells. The age of onset varies from 15 to 70 years of age. (For more information on this disorder, choose "Churg-Strauss" as your search term in the Rare Disease Database). Systemic Lupus Erythematosus is an inflammatory connective tissue disease that can affect many parts of the body including the joints, skin and internal organs. Lupus is a disease of the body's immune system, most often striking young women between the ages 15 and 35 years. Vasculitis can be a symptom of Lupus. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database). Schoenlein-Henoch Purpura is one of a group of disorders characterized by purplish or brownish red discolorations of the skin. These spots may be large or small. Internal bleeding may occur in various areas of the body. This blood vessel disorder may affect the skin, joints, gastrointestinal system, kidneys, and in a very few cases the central nervous system. Little is known about the cause of this form of purpura although it may be an allergic reaction which more often occurs in children than in adults. (For more information on this disorder, choose "Schoenlein-Henoch" as your search term in the Rare Disease Database). Behcet's Syndrome is a relapsing multi-system inflammatory disease. The most common symptoms include oral and genital ulcers and inflammation of the eyes. The joints, blood vessels, central nervous system, and gastrointestinal tract may also be involved. Attacks may last a week to a month and recur spontaneously. (For more information on this disorder, choose "Behcet" as your search term in the Rare Disease Database). Goodpasture Syndrome is a rare inflammatory disorder involving the membranes of the lungs and kidneys. This disorder can be classified into three groups: autoimmune or antibody induced disease; systemic vasculitis (a vessel disease that may affect the body as a whole); and idiopathic (cause unknown). (For more information on this disorder, choose "Goodpasture" as your search term in the Rare Disease Database). Kawasaki disease is characterized by diseased lymph nodes in the neck, high fever, and a rash primarily over the trunk. This syndrome predominantly affects people of Japanese ancestry. Multiple sites of inflammatory and destructive lesions in the arteries (polyarteritis) occur, and may involve the coronary vessels in twenty percent of those affected. (For more information on this disorder, choose "Kawasaki" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Vasculitis depends on the cause and symptoms of the underlying disease. The drugs prednisone, cyclophosphamide, methylprednisolone and pentoxifylline have proven to be successful in treating the autoimmune form of Vasculitis. Other treatment is symptomatic and supportive. Therapies: Investigational At the present time research is being conducted on the use of high-dose intravenous gamma-globulin for some forms of Vasculitis. Another study uses a combination of cytotoxic agents and steroids as possible treatments for certain types of Vasculitis. Plasmapheresis may be of benefit in some cases of Vasculitis. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. More research must be conducted to determine long-term safety and effectiveness of these drugs and procedures. Clinical trials are underway to learn about the immunopathogenesis and optimal treatment of Vasculitis. Interested persons may wish to contact: Barton F. Haynes Box 3258 Duke University Medical Center Durham, NC 27710 (919) 684-5093 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Vasculitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 421-8453 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1288. THE MERCK MANUAL, Volume 2, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 798. PULMONARY DISEASES AND DISORDERS, Volume 2, 2nd Ed.: Alfred P. Fishman M.D., ed.-in-chief; McGraw-Hill Book Co., 1980. Pp. 1127. CEREBRAL ANGIOGRAPHY AS A GUIDE FOR THERAPY IN ISOLATED CENTRAL NERVOUS SYSTEM VASCULITIS. R. Stein et al.; JAMA, (April 24, 1987; issue 257 (16)). Pp. 2193. DIAGNOSTIC STUDIES FOR SYSTEMIC NECROTIZING VASCULITIS. SENSITIVITY, SPECIFICITY, AND PREDICTIVE VALUE IN PATIENTS WITH MULTISYSTEM DISEASE. P.J. Dahlberg et al.; ARCH INTERN MED, (January 1989; issue 149 (1)). Pp. 161-165. SEVERE LEUKOCYTOCLASTIC VASCULITIS OF THE SKIN IN A PATIENT WITH ESSENTIAL MIXED CRYOGLOBULINEMIA TREATED WITH HIGH-DOSE GAMMA-GLOBULIN INTRAVENOUSLY. B.W. Boom et al.; ARCH DERMATOL, (October 1988; issue 124 (10)). Pp. 1550. CENTRAL NERVOUS SYSTEM VASCULITIS IN BEHCET'S SYNDROME; ANGIOGRAPHIC IMPROVEMENT AFTER THERAPY WITH CYTOTOXIC AGENTS. J.D. Zelenski et al.; ARTHRITIS RHEUM, (February 1989; Issue 32 (2)). Pp. 217. REVERSAL OF PROGRESSIVE NECROTIZING VASCULITIS WITH INTRAVENOUS PULSE CYCLOPHOSPHAMIDE AND METHYLPREDNISOLONE. J.G. Fort et al.; ARTHRITIS RHEUM, (September 1988; Issue 31 (9)). Pp. 1194. VASCULITIS IN OLDER PATIENTS: PRESENTATIONS AND SIGNIFICANCE. A. Montonaro; GERIATRICS, (March 1988; Issue 43 (3)). Pp. 75-76; 79-83; 86. Vasculitis 6pagetitle 705: Vasculitis 04311.TXT &Copyright (C) 1989 National Organization for Rare Disorders, Inc. 698: Vasculitis, Cutaneous Necrotizing _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cutaneous Necrotizing Vasculitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dermal Necrotizing Angiitis Information on the following diseases can be found in the Related Disorders section of this report: Polyarteritis Nodosa Hypersensitivity Vasculitis Wegener's Granulomatosis Schoenlein-Henoch Purpura Rheumatoid Arthritis Giant-Cell Arteritis Sjogren Syndrome Discoid Lupus Erythematosus General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cutaneous Necrotizing Vasculitis is an inflammation of the blood vessel system which includes the veins, arteries and capillaries. It usually also affects the skin and may occur alone or in conjunction with allergic, infectious or rheumatic diseases. Symptoms Cutaneous Necrotizing Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls and skin lesions. These skin lesions may be flat and red (macules), nodules or hemorrhages under the skin (purpura). They may occur on many areas of the body but are seen most often on the back, hands, buttocks, the inside areas of the forearm and the lower extremities. These skin symptoms may occur only once or at regular intervals. They will usually last for several weeks and may leave darkened spots and scarring. In some cases there may be wheel-like lesions that cause intense itching (urticaria), or ring-shaped lesions and ulcers. Blister-like lesions (vesicles, bullae) may develop in severe cases. There may also be fever, generalized discomfort (malaise), muscle or joint pain. Causes The exact cause of Cutaneous Necrotizing Vasculitis is unknown. Some lesions may be caused by an allergic reaction or hypersensitivity to certain medications such as sulfa or penicillin, other drugs, toxins, and inhaled environmental irritants. Skin manifestations may also occur because of a fungal infection, parasites or viral infections, while in some instances the cause may be due to an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.) against invading organisms suddenly begin to attack healthy tissue. Affected Population Cutaneous Necrotizing Vasculitis affects males and females in equal numbers. It is a common inflammatory disorder. Related Disorders The following diseases can have similarities to Cutaneous Necrotizing Vasculitis: Polyarteritis Nodosa is a group of systemic necrotizing vasculitis including the original classic polyarteritis nodosa, allergic granulomatosis, and those disorders that have the characteristics of both (an overlap syndrome). (For more information on this disorder, choose "Polyarteritis" as your search term in the Rare Disease Database). Hypersensitivity Vasculitis includes a wide group of vasculitic syndromes that affect the upper and lower respiratory tract, kidneys and skin. They are usually caused by an allergic reaction to an unknown antigen. Wegener's Granulomatosis is a rare collagen vascular disorder that begins as a localized inflammation of the upper and lower respiratory tract mucosa, and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidneys (glomulonephritis). (For more information on this disorder, choose "Wegener" as your search term in the Rare Disease Database). Schoenlein-Henoch Purpura is one of a group of disorders characterized by purplish or brownish red discolorations of the skin. These spots may be large or small. Internal bleeding may occur in various areas of the body. This blood vessel disorder may affect the skin, joints, gastrointestinal system, kidneys, and in a very few cases the central nervous system. Little is known about the cause of this form of purpura although it may be an allergic reaction which more often occurs in children than adults. (For more information on this disorder, choose "Schoenlein" as your search term in the Rare Disease Database). Rheumatoid Arthritis is a common autoimmune disease that affects the joints. The exact cause is unknown. It is characterized by a loss of appetite, extreme fatigue and joint pain with deformities. The location of painful joints may change place (migration) and often more than one joint is affected. Pain, early morning stiffness, aching joints chiefly in the hands, knees, feet, jaws, and spine occur. Once affected, a joint may remain painful for a long time and eventually become deformed. (For more information on this disorder, choose "Rheumatoid Arthritis" as your search term in the Rare Disease Database. Giant-Cell Arteritis is a chronic inflammatory disease of the branches of the aortic arch. This disorder is found principally in the temporal and occipital arteries, but may develop in almost any of the large arteries. (For more information on this disorder, choose "Giant Cell" as your search term in the Rare Disease Database.) Sjogren Syndrome is an autoimmune disorder causing degeneration of the tear and saliva glands. It is often associated with arthritis. Patients often complain of a gritty, burning sensation in their eyes due to loss of lubrication. When their mouths become dry, chewing and swallowing food is difficult. The lack of saliva causes particles of food to stick to the cheeks, gums, and throat. Other symptoms include a weak voice and dental decay, plus dryness of the nose, skin and vagina. (For more information on this disorder, choose "Sjogren" as your search term in the Rare Disease Database.) Discoid Lupus Erythematosus is a chronic and recurrent autoimmune disorder primarily affecting the skin. It is characterized by sharply circumscribed spots (macules) and plaques displaying redness (erythema), plugging of follicles, scales, vascular lesions (telangiectasia), and wasting (atrophy). There are two varieties: one with lesions above the chin, the other with or without facial involvement but causing skin lesions on the rest of the body. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Cutaneous Necrotizing Vasculitis depends on the cause and symptoms. Removing the irritating agent (e.g., drug) and treating the underlying infection will usually eliminate the symptoms of this disorder. The drugs prednisone, cyclophosphamide, pentoxifylline and azathioprine have proven to be successful in treating the autoimmune form of Vasculitis. Other treatment is symptomatic and supportive. Therapies: Investigational At the present time research is being conducted on the use of high dose intravenous gammaglobulin for some forms of Cutaneous Vasculitis. Plasmapheresis may be of benefit in some cases. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research must be conducted to determine long-term safety and effectiveness of these treatments. This disease entry is based upon medical information available through November 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cutaneous Necrotizing Vasculitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 421-8453 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1366-1368. PULMONARY DISEASES AND DISORDERS, Volume 2, 2nd Ed.: Alfred P. Fishman M.D. ed.-in-chief; McGraw-Hill Book Co., 1980. Pp. 381-384. THE MERCK MANUAL, Volume 2, 14th Ed.: Robert Berkow, M.D. ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 798 DIAGNOSTIC STUDIES FOR SYSTEMIC NECROTIZING VASCULITIS. SENSITIVITY, SPECIFICITY, AND PREDICTIVE VALUE IN PATIENTS WITH MULTISYSTEM DISEASE. P.J. Dahlberg et al.; ARCH INTERN MED, (January 1989; issue 149 (1)). Pp. 161-165. SEVERE LEUKOCYTOCLASTIC VASCULITIS OF THE SKIN IN A PATIENT WITH ESSENTIAL MIXED CRYOGLOBULINEMIA TREATED WITH HIGH-DOSE GAMMA-GLOBULIN INTRAVENOUSLY. B.W. Boom et al.; ARCH DERMATOL, (October 1988; issue 124 (10)). Pp. 1550. URTICARIAL VASCULITIS PROGRESSING TO SYSTEMIC LUPUS ERYTHEMATOSUS. E. Bisaccia et al.; ARCH DERMATOL, (July 1988; issue 124 (7)). Pp. 1088-1090. LIVEDO VASCULITIS. THERAPY WITH PENTOXIFYLLINE. W. Sams. ARCH DERMATOL, (May 1988; issue 124 (5)). Pp. 684-687. Vasculitis, Cutaneous Necrotizing chr5' 8'pagetitle 698: Vasculitis, Cutaneous Necrotizing 04312.TXT $Copyright (C) 1986 National Organization for Rare Disorders, Inc. 169: Ventricular Septal Defects _________________________ ** IMPORTANT ** It is possible that the main title of the article (Ventricular Septal Defects) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS Roger's Disease, also known as Maladie de Roger Common Ventricle, also known as Cor Triloculare Biatriatum General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ventricular Septal Defects are a relatively common form of congenital heart disease. The septum separating the two ventricles is incompletely formed before birth. This can result in inefficient distribution of oxygen to the various tissues of the body and various degrees of congestive heart failure, manifested by edema, difficulty breathing, and rapid heart beat. The size of the opening in the septum determines the clinical severity of the disorder. Some patients with large defects do not survive infancy. In addition, the lungs can be permanently damaged by the abnormal pulmonary blood pressures generated. Occasionally, ventricular septal defects may close spontaneously or become relatively less significant as the heart grows along with the rest of the body. The patterns and quality of the sounds of the beating heart, electrocardiographic (EKG) and echocardiographic findings, and information from cardiac catheterization help determine the exact anatomic defect and differentiate ventricular septal defects from other heart conditions with similar symptoms. Heart sounds evaluation and the EKG are the most commonly performed initial investigations for these purposes. Symptoms First, a short review of the structure and function of the normal heart. The human heart has 4 chambers, that is, two atria and two ventricles. Deoxygenated blood enters the right atrium from the systemic veins (i.e., the veins draining all the body organs and tissues except the lungs). It is pumped from the right atrium to the right ventricle and from the right ventricle to the pulmonary artery. The pulmonary artery carries the blood to the lungs, where it is saturated with oxygen. From the lungs, the blood passes through the pulmonary veins to the left atrium, and thence into the left ventricle, the most muscular of the four chambers of the heart. The contraction of the left ventricle forces the blood back into the systemic circulation where it supplies oxygen to the various body tissues. Blood then collects in veins which eventually come together and drain again into the right atrium. The two atria are separated from each other by a relatively thin membrane known as the atrial septum. The ventricular septum separates the right and the left ventricles. In ventricular septal defects the membrane separating the ventricles (septum) is incomplete. A small defect, causing minor or no symptoms, is known as Roger's Disease. Sometimes the hole is very high in the ventricular septum, adjacent to the atria, so the communication is between the left ventricle and the right atrium; symptoms resemble those of pure ventricular septal defects. A very large opening causes severe symptoms. If the septum is entirely absent, the two ventricles constitute a single chamber. This condition is known as Common Ventricle or Cor Triloculorum Biatriatum. Septal defects allow deoxygenated blood from the right ventricle to mix with freshly oxygenated blood from the left ventricle. Although the blood tends to move from left to right in ventricular defects, maintaining a fairly high average saturation in the systemic circulation, some decrease in the overall availability of oxygen to the body tissues usually occurs. More significantly, however, large defects create abnormal pressure conditions in the pulmonary and systemic circulation. As hypertension (high blood pressure) gradually develops in the lungs, the pulmonary vasculature is permanently damaged, often by the time the patient reaches adolescence. Small defects may cause no symptoms, or mild signs of congestive heart failure such as slight generalized edema and breathing difficulty after exercise or with fatigue. In infants, poor feeding due to fatigue, cold grayish extremities, and rapid shallow breathing can indicate heart disease. In infants and children, large defects can cause growth retardation and potentially fatal heart failure. In adults, difficulty breathing after physical exertion, chest pain, episodes of fainting, coughing up of blood, and signs of extremely low oxygen saturation of the blood in the tissues, including bluish skin coloration (cyanosis), clubbing of the fingers, and a high concentration of red blood cells may occur. Ventricular septal defects of moderate size are characterized by enlargement of the heart, milder and less progressive symptoms, and characteristic heart sounds and EKG. When there is a common ventricle, symptoms resemble those of large septal defects. The systemic and pulmonary circulation always mixes, although cyanosis and similar signs of poor oxygen delivery may not be as severe as expected. Pulmonary hypertension and its consequences are likely to develop. Heart defects seem to predispose patients to respiratory infections and bacterial infection of the inner lining of the heart (bacterial endocarditis). Bacterial endocarditis seems to occur more often with small or moderate sized septal defects. These infections should be avoided, particularly since resulting damage is likely to worsen the patient's condition. Causes The causes of the arrest in embryonic development resulting in congenital heart disease are poorly understood. Only about 10% of the cases appear to be hereditary. Maternal rubella (measles), alcoholism or diabetes have been associated with some heart defects. Ostium primum defects often occur in individuals with Down's Syndrome, and certain other chromosomal abnormalities. Affected Population About 1% of live births have some kind of congenital heart defect; of these, about 30% have ventricular septal defects. Males are affected more often than females. Related Disorders Other congenital heart defects include atrial septal defects, valve defects of various kinds, malformations of the large vessels entering and leaving the heart, and anomalous positions of the heart in the chest. Tetralogy of Fallot consists of four heart abnormalities that occur together, and include a large ventricular septal defect. Therapies: Standard The definitive treatment for ventricular septal defects is surgical. The hole in the septum is either sutured shut or patched with a graft. The success rate is quite high. Surgery is indicated when significant shunting appears, especially when resistance to the entry of blood into the lungs is high. It is most successful in patients between the ages of 3 and 6 years. Presurgical, palliative treatment includes medication such as digitalis to treat arrhythmias, excessively rapid heart beat, and stop heart failure. Sodium restriction, diuretics and rest are also effective in treating congestive heart failure. Respiratory infections are treated vigorously, and antibiotics are given prophylactically with such procedures as tooth extractions to reduce the risk of developing bacterial endocarditis. Therapies: Investigational This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ventricular Septal Defects, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Avenue Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung, and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References Petersdorf, Robert G., et al, editors, Harrison's Principles of Internal Medicine, tenth edition. New York: McGraw-Hill 1983, Pp. 1383-96. THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 1926, 358. THE CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Eds; W.B. Saunders Co. 1988. Pp. 306. Ventricular Septal Defects %pagetitle 169: Ventricular Septal Defects 04313.TXT Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 541: Vitamin B12 Deficiency _________________________ ** IMPORTANT ** It is possible the main title of the article (Vitamin B12 Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Cobalamin Deficiency Information on the following disorders may be found in the Related Disorders section of this report: Anemia, Pernicious Burning Mouth Syndrome (Burning Tongue Syndrome; Oral Galvanism; Glossodynia; Glossopyrosis; Stomatodynia; Stomatopyrosis) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Vitamin B12 Deficiency is characterized by an abnormally low level of this vitamin in the blood. The disorder can be caused by a poor diet, inadequate absorption or utilization of B12 such as following stomach and intestinal surgery and increase in certain intestinal organisms. The deficiency causes changes in the blood and the central nervous system. Injection of this vitamin usually cures the disorder if the underlying cause can be corrected. Symptoms Symptoms of Vitamin B12 Deficiency usually appear years after absorption of this vitamin ceases, because the amount of B12 needed by the body is tiny, and a large amount is usually stored in the liver. In most patients, a low red blood cell count (anemia) develops gradually and progressively as the stores of Vitamin B12 in the liver are used up. Patients may not be alerted to the deficiency because of its slow development. Occasionally the spleen and liver may become enlarged (hepatosplenomegaly). Patients with this deficiency may also have various gastrointestinal symptoms such as a lack of appetite (anorexia), intermittent constipation and diarrhea, and poorly localized abdominal pain. An inflamed tongue (glossitis), usually described as "burning of the tongue", may be an early symptom of Vitamin B12 Deficiency. Considerable weight loss is common. Nervous System: The nervous system may be involved, even in the absence of anemia. Most commonly, the nerves outside the brain and spinal cord (peripheral nerves) are involved. The spinal cord may be involved, beginning with loss of vibratory sensation in the lower extremities, loss of position sense and loss of muscle coordination (ataxia). Later, spasticity, exaggerated reflexes, and upward flexing of the big toe upon stimulating the sole of the foot (Babinski reflex) follows. Some patients with Vitamin B12 Deficiency also get irritated easily, have mild depressions, or actual paranoia (megaloblastic madness). Rarely, yellow-blue color blindness may occur. Causes Vitamin B12 Deficiency is caused by decreased absorption of this vitamin. It is most often due to pernicious anemia which causes the mucous lining of the stomach to fail to secrete the so-called "intrinsic factor" which is needed for vitamin B12 absorption. The surgical removal of part or all of the stomach (gastrectomy), and chronic infection causing wasting of the stomach may also cause deficient secretion of intrinsic factor. Deficiency of certain endocrine glands (especially thyroid and adrenal glands) if they are associated with pernicious anemia, suggest an autoimmune basis for underdevelopment of stomach mucous membrane. Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms, for unknown reasons, attack healthy tissue. Affected Population Vitamin B12 Deficiency affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Vitamin B12 Deficiency or may be associated with it. Comparisons may be useful for a differential diagnosis: Pernicious Anemia is a disorder resulting from an impaired absorption of vitamin B-12, a necessary co-factor in the production of red blood cells. Pernicious Anemia develops slowly because the liver stores enough vitamin B-12 to last 3 to 5 years. The abnormally low number of red blood cells (anemia) may produce weakness, easy fatigability, shortness of breath (dyspnea), an abnormally rapid heart beat (tachypnea) and angina. Possible gastrointestinal problems are similar to those of Vitamin B-12 Deficiency. (For more information, choose "Pernicious Anemia as your search term in the Rare Disease Database.) Burning Mouth Syndrome (Burning Tongue Syndrome) is characterized by a burning sensation in the mouth and/or the tongue. There is no obvious clinical evidence of inflammation, although a Candida albicans infection can be a cause. The cause of most cases Burning Mouth Syndrome, when it is not associated with Vitamin B12 Deficiency, is unknown. Many causes have been suggested by researchers, including allergic reactions to pollen, cereals, metals and materials used in the manufacture of dentures. Burning Tongue may be an early symptom of Vitamin B-12 Deficiency. (For more information, choose "Burning Mouth Syndrome" as your search term.) Therapies: Standard Treatment for the anemia of Vitamin B12 Deficiency consists of intramuscular injections of vitamin B12 until the blood and neurologic abnormalities are cleared up. Oral iron therapy is prescribed if an iron deficiency is also diagnosed. If the underlying mechanism of Vitamin B12 Deficiency is known, this should be corrected. Therapies: Investigational The National Institute of Arthritis, Musculoskeletal and Skin Diseases is looking for patients with various kinds of Ichthyosis willing to participate in research aimed at mapping the genes responsible for their disorder. Interested persons may contact: Dr. Sherri Bale National Institute of Arthritis, Musculoskeletal and Skin Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 402-2679 This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Vitamin B12 Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Cobalamin Network P.O. Box 174 Thetford Center, VT 05075 (802) 785-4029 (after 8:00 p.m. EST) National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 NIH/National Heart, Blood & Lung Institute Office of Public Inquiries 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al., eds.; Little, Brown, 1987. Pp. 1039-1040. ISOTOPE-DILUTION ASSAY FOR URINARY METHYLMALONIC ACID IN THE DIAGNOSIS OF VITAMIN B12 DEFICIENCY. A PROSPECTIVE CLINICAL EVALUATION: D.B. Matchar, et al.; Ann Intern Med (May 1987: issue 106(5)). Pp. 707-710. MEGALOBLASTIC ANAEMIA IN A VEGETARIAN HINDU COMMUNITY: I. Chanarin, et al.; Lancet (November 23, 1985: issue 2(8465)). Pp. 1168-1172. PRENATAL VITAMIN B12 THERAPY OF A FETUS WITH METHYLCOBALAMIN DEFICIENCY (COBALAMIN E DISEASE): D.S. Rosenblatt, et al.; Lancet (May 18, 1985: issue (8)). PHYSICIAN RESPONSE TO LOW SERUM COBALAMIN LEVELS: R. Carmel, et al.; Arch Intern Med (June 1986: 146(6)). Pp. 1161-1165. Vitamin B12 DeficiencyE H pagetitle 541: Vitamin B12 Deficiency 04314.TXT )q)Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc. 658: Vitamin E Deficiency _________________________ ** IMPORTANT ** It is possible that the main title of the article (Vitamin E Deficiency) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Tocopherol Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Friedreich's Ataxia Marie's Ataxia Olivopontocerebellar Atrophy Charcot-Marie-Tooth Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Vitamin E Deficiency is extremely rare, except in people who have a disease that causes vitamin malabsorption. It is characterized by an abnormally low level of this vitamin in the blood. Vitamin E Deficiency may lead to a rare, progressive neuromuscular disease which is characterized by loss of reflexes (areflexia), loss of balance and impaired sensations. This disorder occurs most often in infants who have an impairment of their bile flow due to a disease. Symptoms The first sign of the Vitamin E Deficiency, 'Neurologic Syndrome', is usually a decrease or loss of reflexes (areflexia). This may progress to loss of coordination (ataxia), balance, and muscle weakness of the arms and legs. There may be walking difficulties such as stumbling and staggering (titubation) and abnormal posturing. Abnormal eye movements (ophthalmoplegia) and extreme slowness of movement (bradykinesia) may occur. Sensation of pain, vibration, and position may be impaired. Vitamin E Deficiency in premature and low-birth-weight infants may cause abnormal destruction of red blood cells (hemolytic anemia). The disorder primarily occurs in babies who have an impairment of their bile flow. Causes Vitamin E, a fat soluble vitamin, is needed in very small amounts. It is stored in the body's fat. Therefore, it is not necessary to consume vitamin E daily, as long as adequate amounts are stored in the body from a well balanced diet. Vitamin E is found in various foods including vegetable oils, wheat germ, whole-grain cereals, egg yolk, and liver. Rarely is Vitamin E Deficiency caused by poor diet. It usually is caused by an underlying disease that impairs the absorption of this vitamin from fat. Common underlying diseases are fat malabsorption disorders, liver diseases, or disorders of bile secretion. The liver stores the Vitamin E-containing fat. Bile breaks down dietary fat in the small intestine so that vitamins can be absorbed. Vitamin E malabsorption commonly occurs with Cholestasis (a syndrome of various causes characterized by impaired bile secretion) and less commonly with Cystic Fibrosis (primarily a lung disorder that may also affect bile secretion). Malabsorption of Vitamin E may also occur in Primary Biliary Cirrhosis (a liver disorder that results in cholestasis) and Acanthocytosis or Abetalipoproteinemia (a digestive disorder characterized by fat malabsorption). For more information on the above disorders, choose "cholestasis," "cystic fibrosis," "acanthocytosis," and "Primary Biliary Cirrhosis" as your search terms in the Rare Disease Database.) Recent research investigating the cause of Vitamin E Deficiency in patients with no underlying disease has suggested an inherited defect of vitamin E storage. Affected Population Vitamin E Deficiency is extremely rare in the absence of an underlying disorder. It is more common in infants, children, and young adults than in adults. It affects males and females in equal numbers except when an underlying disorder affects one sex more readily. Approximately 1 in 5,000 infants have an impairment of their bile flow due to liver diseases such as hepatitis or biliary atresia. Vitamin E Deficiency in these infants causes degenerative progressive neuromuscular disease. Related Disorders Symptoms of the following disorders can be similar to those of the "Neurologic Syndrome" caused by Vitamin E Deficiency. Comparisons may be useful for a differential diagnosis: Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized by slow degenerative changes of the spinal cord and the brain. Dysfunction of the central nervous system affects coordination of the muscles in the limbs. Staggering, lurching, or trembling may occur while standing or walking. Partial loss of the sense of touch or sensitivity to pain and temperature may also occur. Reflexes may decrease or disappear and numbness or weakness of the arms and legs may develop. Speech may be impaired. Curvature of the spine (scoliosis), abnormally high arches with hyperextended big toes, Diabetes Mellitus, and irregular heart function may also occur. This form of ataxia usually first appears in adolescents. (For more information on this disorder, choose "Friedreich's Ataxia" as your search term in the Rare Disease Database). Marie's Ataxia is a hereditary disorder of impaired muscle coordination usually beginning during young adulthood or middle age. It is characterized by unsteady walking and muscle weakness in the legs, head, neck, and arms. Unsteadiness in walking, impaired coordination of the arms, and impaired speech may occur. Swallowing and clearing of secretions (as from the lungs) can become difficult. Reflex abnormalities, involuntary muscle contractions, and altered pain and touch sensations may also occur. (For more information on this disorder, choose "Marie's Ataxia" as your search term in the Rare Disease Database). Olivopontocerebellar Atrophy is a group of inherited forms of Ataxia characterized by progressive degeneration of part of the brain. Loss of muscle coordination, tremors, involuntary movements, and speech problems (dysarthria) are common. Sensory loss, degeneration of the light-sensitive layer of the eye (retina), abnormal eye movements (ophthalmoplegia), and problems in walking, writing, and thinking may occur in certain forms of this disorder. Olivopontocerebellar Atrophy usually affects older adults. (For more information on this disorder, choose "Olivopontocerebellar" as your search term in the Rare Disease Database). Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy, also known as CMT Disease,) is a slowly progressive, hereditary neuromuscular disorder. It is characterized by weakness and atrophy of the legs and later the hands and forearms. An extremely high arch and flexed toes may cause difficulty in walking. Impaired sensations of vibration, pain, touch, and heat may occur. Stretch reflexes may be absent. This disease usually appears during middle childhood and adulthood. (For more information on this disorder, choose "CMT" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Vitamin E Deficiency with very large oral supplements of Vitamin E is not effective. Alpha tocopherol, alpha tocopheryl acetate, and alpha tocopheryl succinate have not been used successfully. If the disorder is caused by an underlying disease, treatment to correct the defect (e.g. removal of the obstruction in the bile duct) when possible, is the primary treatment. Therapies: Investigational Since Vitamin E Deficient patients do not respond to oral Vitamin E, other treatments are being investigated. Injection of an investigational form of vitamin E (dl-alpha-tocopherol) into muscles is being studied. In some cases it has stabilized or reversed the neurologic symptoms caused by Vitamin E Deficiency. This experimental drug is manufactured by Hoffmann-La Roche. A water-soluble form of Vitamin E (d-alpha tocopheryl polyethylene glycol-1000 succinate, or TPGS), which does not require bile to be absorbed from the intestine, is being investigated under a grant from the National Organization for Rare Disorders (NORD) by Dr. Ronald Sokol of the University of Colorado. Preliminary studies indicate that it may stabilize or reverse neurologic dysfunction in infants with bile duct obstruction. Participants in this study must be older than six months and under 20 years of age. Their Vitamin E Deficiency must be caused by some form of cholestatic hepatobiliary liver disease. Physicians with patients who are interested in participating in this study should contact: Ronald J. Sokol, M.D. Associate Professor of Pediatrics University of Colorado School of Medicine Box C228 4200 East Ninth Avenue Denver, CO 80262 (303) 270-7805 This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Vitamin E Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse P.O. Box NDDIC Bethesda, MD 20892 (301) 468-6344 American Liver Foundation 1425 Pompton Ave. Cedar Grove, N.J. 07009 (201) 857-2626 (800) 223-0179 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 Children's Liver Foundation 14245 Ventura Blvd. Sherman Oaks, CA 91423 (818) 906-3021 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 278, 282-283. INTRAMUSCULAR VITAMIN E REPLETION IN CHILDREN WITH CHRONIC CHOLESTASIS: D.H. Perlmutter, et al.; Am J Dis Child (February, 1987: issue 141(2)). Pp. 170-174. VITAMIN E DEFICIENCY AND NEUROLOGIC DISEASE IN ADULTS WITH CYSTIC FIBROSIS: M.D. Sitrin, et al.; Ann Intern Med (July, 1987: issue 107(1)). Pp. 51-54. VITAMIN E DEFICIENCY LINKED TO LIVER DISEASE IN CHILDREN: C. Pierce; Research Resources Reporter (October, 1986); National Institutes of Health. Pp. 7-9. Vitamin E Deficiency *pagetitle 658: Vitamin E Deficiency 04283.TXT *Copyright (C) 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 647: Treacher Collins Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article Treacher Collins) Syndrome is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms MFDI Mandibulofacial Dysostosis Franceschetti-Klein Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Nager Acrofacial Dysostosis Goldenhar-Gorlin Syndrome Oral-Digital-Facial Syndrome Juberg-Hayword Syndrome Hemifacial Microsomia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Treacher Collins Syndrome is a rare genetic disorder characterized by slanted eyes, difficulty swallowing, deformities of the jaw (including maxilla and mandible), ears and deafness. Symptoms Treacher Collins Syndrome is characterized by underdevelopment of the cheek (malar), the lower jaw (mandibular) and jaw bones, slanted eyes, notching of lower eyelids, and a receding chin. Underdevelopment of the jaw may cause problems in swallowing or breathing for the newborn, tubes may have to be inserted to aid the infant in feeding and breathing. The outer upper area of the ear (pinna) may be malformed as well as the external hearing canal (auditory meatus). The eardrum (tympanic membrane) may be replaced with a bony plate. The combination of a longer than normal face with a beaklike nose, receding chin and acute deafness, characterize the appearance of patients with Treacher Collins Syndrome. Causes Treacher Collins is a rare genetic disorder which may result from a defect on the long arm of chromosome five. However, genetic studies are still in the process of determining the exact location of the genetic defect. This syndrome is inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) A positive family history is found in less than half of new Treacher Collins patients. Thus, scientists suspect that approximately sixty percent of cases represent genetic mutations. Affected Population Treacher Collins Syndrome is a rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Treacher Collins. Comparisons may be useful for a differential diagnosis: Nager Acrofacial Dysostosis (Mandibulofacial Dysostosis) is a rare hereditary disorder marked by abnormal facial development. Cleft lip and palate, defective development of bones of the jaw and arms, and smaller than normal thumbs, hearing loss, and ear deformities are characteristics of this disorder. Goldenhar-Gorlin Syndrome is a rare congenital disorder that involves unusual facial characteristics. The facial structure of people with Goldenhar Syndrome may include partial absence of the upper eyelid or an unusual slant of the eyelid, abnormal shape of the skull (asymmetry), the forehead may be sharply prominent, the nostrils may be absent or closed, the roof of the mouth may be clefted (cleft palate), and there may be abnormal growth of the jaw. Paralysis of the eye muscles may occur. Unusual cysts on the eyeball, cysts in fatty tissue at the edge of the eye and skin growths around the ears (skin tags) may also occur. Malformations of the spinal column including open spine (spina bifida), fusion of the top of the spine to the lower edge of the skull, incomplete development of one side of the spinal column and more than the normal number of vertebrae may also be present. (For more information on this disorder, choose "Goldenhar" as your search term in the Rare Disease Database). Oral-Facial-Digital Syndrome is a rare genetic disorder characterized by episodic neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue(frenulum), a broad based nose, vertical folds of skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, and shorter than normal fingers and/or toes. (For more information on this disorder, choose "OFD" as your search term in the Rare Disease Database). Juberg-Hayward Syndrome (Orocraniodigital Syndrome) is a rare hereditary disorder characterized by cleft lip and palate, a smaller than normal sized head, deformities of the thumbs and toes, and growth hormone deficiency resulting in short stature. Hemifacial Microsomia (HFM) is a syndrome that affects one in 5,000 births. It can be confused with a Treacher Collins-like syndrome. However, it is not genetic. Although it can cause abnormalities on both sides of the face, they are always uneven whereas in Treacher Collins Syndrome both sides of the face appear equally affected. The facial nerve is frequently paralyzed in Hemifacial Microsomia. The variety of features of HFN include: underdevelopment of the lower jaw, tilting of the face to one side, ear deformities (microtia), facial nerve weakness in forty percent of patients, cleft-like notching of the affected corner of the mouth (macrostomia), and underdevelopment of the cheek and eye on the affected side of the face. Other common abnormalities include fatty tumors over the eye, abnormalities of the vertebrae and ribs, cleft lip/palate, and heart and kidney abnormalities which are very rare. Therapies: Standard Treatment of Treacher Collins Syndrome may include insertion of feeding or breathing tubes during infancy. Early speech and hearing evaluations may be necessary. Surgery to improve the appearance of the jaw and ears may be recommended. Depending on the type of hearing loss the patient has, surgery or the use of hearing aids may restore hearing. Speech/language difficulties may require speech/language therapy. The surgical treatment of Treacher Collins children is based on the age of the child. During infancy, attention is directed toward the upper airway. A tracheostomy may be necessary. During the first year of life, notching of the lower eyelids can be repaired. In the preschool and early school years, attention is directed toward correction of slanting eyelids, and flat cheek bones. Correction of the jaws and malocclusion is usually done in stages, the final corrections are done in teenage years, along with orthodontic therapy. Surgical correction of the external ear abnormalities may be done prior to school age for minor forms. If the major portion of the ear is missing, it is best to wait until age six so that sufficient rib cartilage is available for framework and grafting. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Scientists are studying various surgical methods to improve the appearance of Treacher Collins patients. One of the most recent procedures developed for correction of the malformations of the jaw (maxilla and mandible), and eyes is the Tessier Intergral Procedure. The desired results may be obtained in either one or two stages. Researchers at Johns Hopkins Hospital are trying to deteremine the genes responsible for craniofacial disorders. Physicians may contact: Drs. Amy Feldman Lewanda or Ethylin Wang Jabs at: CMSC 10, Johns Hopkins Hospital, Baltimore, MD, 21205, (301) 955-0484. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Treacher Collins Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Treacher Collins Foundation P.O. Box 683 Norwich, VT 05055 (802) 649-3020 National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 American Society for Deaf Children 814 Thayer Avenue Silver Spring, MD 20910 (301) 585-5400 Voice/TTY Deafness Research Foundation 55 East 34th Street New York, NY 10016 (212) 684-6556 Craniofacial Centre Children's Hospital 300 Longwood Ave. Boston, MA 02115 (617) 735-6309 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.480. PSYCHOSOCIAL ADJUSTMENT OF 20 PATIENTS WITH TREACHER COLLINS SYNDROME BEFORE AND AFTER RECONSTRUCTIVE SURGERY. E.M. Arndt, et al,; Br J Plast Surg (November, 1987, issue 40 (6)). Pp. 605-609. ANTHROPOMETRIC EVALUATION OF DYSMORPHOLOGY IN CRANIOFACIAL ANOMALIES; TREACHER COLLINS SYNDROME. J.C. Kolar, et al.; Am J Phys Anthropol (December, 1987, issue 74 (4)). Pp. 441-451. FAMILIAL TREACHER COLLINS SYNDROME. P.S. Murty, et al.; J Laryndol Otol (July, 1988, issue 102 (7)). Pp. 620-622. Treacher Collins Syndrome +pagetitle 647: Treacher Collins Syndrome 04284.TXT Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 386: Tricho-Dento-Osseous Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Tricho-Dento-Osseous Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Osteosclerosis Taurodontism-Curly Hair-Osteosclerosis TDOS General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tricho-Dento-Osseous Syndrome (TDOS) is one of a group of disorders known as the Ectodermal Dysplasias. Intelligence and life span are usually normal for individuals with this disorder. The condition primarily affects the teeth, hair and bones. Children with TDOS may need to wear dentures due to absence of teeth. Symptoms X-ray examination of individuals with Tricho-Dento-Osseous Syndrome (TDOS) usually shows increased bone density. Babies with this disorder have curly eyelashes with thick and kinky hair that tends to straighten with age. Nails are thin and are likely to peel or break. The major symptom involves the teeth, which often become abscessed during the first years of life. Tooth enamel may become yellow brown, thin and pitted. Large pulp chambers (taurodontia) in teeth can be found with dental X-rays. Additionally, teeth may not grow at the appropriate times during infancy. Therefore, children affected by TDOS may lose their teeth and/or have delayed tooth growth. Causes Tricho-Dento-Osseous Syndrome (TDOS) is inherited as an autosomal dominant trait. A defect in ectodermal cells involving the formation and structure of teeth, hair and nails causes symptoms of this disorder. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Affected Population Tricho-Dento-Osseous Syndrome (TDOS) is a very rare disorder that is present at birth. It affects males and females in equal numbers. It can also occur in conjunction with other hereditary disorders. Related Disorders Tricho-Dento-Osseous Syndrome (TDOS) is one of the Ectodermal Dysplasias. These disorders are a group of hereditary, non-progressive syndromes in which the affected tissue is derived primarily from the ectodermal cell layer. The skin, its derivatives, and some other organs may be involved. A predisposition to respiratory infections is a serious problem often associated with this group of disorders. This is due to a somewhat depressed immune system and dysfunctioning mucous glands in parts of the respiratory tract. However, there is no marked involvement of the respiratory system in the Tricho-Dento-Osseous Syndrome form of Ectodermal Dysplasia. For more information, choose "Ectodermal Dysplasia" as your search term in the Rare Disease Database. Therapies: Standard Treatment of dental problems of Tricho-Dento-Osseous Syndrome (TDOS) usually involves early restoration of teeth with jacket crowns and/or prosthetic replacement (false teeth). Genetic counseling may be of benefit to families of patients with this disorder. Therapies: Investigational This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tricho-Dento-Osseous Syndrome (TDOS), please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 For more information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References A TRICHO-ODONTO-ONYCHIAL SUBTYPE OF ECTODERMAL DYSPLASIA: H. Kresbach, et al; Z Hautkr (May 1, 1984, issue 59(9)). Pp. 601-613. Tricho-Dento-Osseous Syndrome: HETEROGENEITY OR CLINICAL VARIABILITY: S.D. Shapiro, et al.; Am J Med Genet (October 1983, issue 16(2)). Pp. 225-236. Tricho-Dento-Osseous Syndrome: A SCANNING ELECTRON MICROSCOPIC ANALYSIS: M. Melnick, et al.; Clin Genet (July 1977, issue 12(1)). Pp. 17-27. Tricho-Dento-Osseous Syndrome pagetitle 386: Tricho-Dento-Osseous Syndrome 04285.TXT !Copyright (C) 1989 National Organization for Rare Disorders, Inc. 732: Trichorhinophalangeal Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Trichorhinophalangeal Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms TRPS TRP Syndrome Langer-Giedion Syndrome Disorder Subdivisions Trichorhinophalangeal Syndrome, Type I Trichorhinophalangeal Syndrome, Type II Information on the following diseases can be found in the Related Disorders section of this report: Fibrodysplasia Ossificans Progressiva Trichoonytic Hidrotic Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia (Christ-Siemans Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Trichorhinophalangeal Syndrome (TRPS), Types I and II, are forms of Ectodermal Dysplasia. They are primarily characterized by abnormalities of the bones and thin, brittle hair. Some individuals with this disorder may not obtain normal height. The fingers are abnormally developed and facial appearance is unusual. Mild to moderate retardation may occur in some cases although some individuals with TRPS Type I have normal intelligence. In some patients with Type II TRPS, chromosomal abnormalities have been identified. No such abnormalities have been found in TRPS Type I patients. Symptoms Trichorhinophalangeal Syndrome (TRPS), Type I, is characterized primarily by bone and hair abnormalities. Some of the finger joints are enlarged and the thumbs and big toes may be shorter than normal. Scalp hair is fine, sparse, and brittle, and may resemble the male baldness pattern. Some individuals may become completely bald. Eyebrows are thick near the nose, but extremely thin nearer the temples. The tip of the nose is bulbous and the upper lip is thin with a long mid-portion. Nails may be thin and extra teeth may be present in some cases. Intelligence is usually normal in patients with TRPS Type I. Type II TRPS is also called the Langer-Siemens Syndrome. Facial appearance and hair abnormalities are similar to those found in TRPS Type I. However, spinal abnormalities may occur and fingers and toes may be shorter than normal. Mild to moderate mental retardation has been found in most affected individuals, although some patients may not be mentally retarded. Delayed onset of speech, and less frequently, hearing loss has occurred. Loose wrinkled skin and multiple bony bumps (exostoses) develop, usually by the third or fourth year of life, although these symptoms may be found as early as the end of the first year. These bumps are primarily located near the ends of bones of the arms and legs, although other bones may also be affected. An increased susceptibility to respiratory infections and hip dislocations may occur. Causes Trichorhinophalangeal Syndrome (TRPS), Type I, is usually inherited as an autosomal dominant trait, although a few affected families have been found to inherit the disorder as an autosomal recessive trait. TRPS Type II is believed to be genetic, although the exact mode of transmission has not yet been determined. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population All forms of ectodermal dysplasias are quite rare, and Trichorhinophalangeal Syndrome (TRPS) is extremely rare. Very few cases of Type I TRPS have been identified in the United States, with no information on sex distribution. Six males and one female have been reported with Type II TRPS in American medical literature since this type was first identified by Langer and Giedion in 1966. Related Disorders Symptoms of the following disorders can be similar to those of Trichorhinophalangeal Syndrome. Comparisons may be useful for a differential diagnosis. Fibrodysplasia Ossificans Progressiva occasionally features abnormal fingers, toes, and/or spinal disks, broad, short necks, deafness, baldness, and mild mental retardation. Abnormal bone growths often occur. This disorder usually occurs sporadically, although some scientists believe it may be inherited. Trichoonytic Hidrotic Ectodermal Dysplasia is characterized by abnormalities of the nails and hair. nails may be thickened and scalp hair is sparse or absent. The palms of the hands and soles of the feet tend to develop a hard, thickened, superficial layer. Anhidrotic Ectodermal Dysplasia, also known as Christ-Siemens Syndrome, is characterized by a congenital absence of sweat glands resulting in heat intolerance. Sparse fragile hair, and, in some cases, deformed nails, may also develop. mental retardation may occur, breast tissue may be absent, and fingers may be webbed. Smooth, finely wrinkled skin, a sunken nose, and malformed or missing teeth may also occur. For information on other types of ectodermal dysplasias, please choose "ectodermal dysplasia" as your search term in the Rare Disease Database. Therapies: Standard Treatment of Trichorhinophalangeal Syndrome is symptomatic and supportive. Dentures or hearing aids may be required. Some limb deformities and bony growths (exostoses) may be corrected by surgery. Agencies which provide assistance for mentally retarded individuals may be helpful. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Trichorhinophalangeal Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References TRICHORHINOPHALANGEAL DYSPLASIA (GIDEON SYNDROME). A CASE REPORT: G.B. Kuna, et al; Clin Pediatr (Phila); (January 1978, issue 17 (1)). Pp. 96-98. NEW CLINICAL OBSERVATIONS IN THE TRICHORHINOPHALANGEAL SYNDROME: R.M. Goodman, et al., J. Craniofac Genet Dev Biol (1981), issue 1(1)). Pp. 15-29. CLINICAL AND SCANNING ELECTRON MICROSCOPIC FINDINGS IN A SOLITARY CASE OF TRICHORHINOPHALANGEAL SYNDROME TYPE I: E.P. Prens, et al.; Acta Derm Venereol (Stockh), (1984), issue 64(3)). Pp. 2449-253. Trichorhinophalangeal Syndrome "pagetitle 732: Trichorhinophalangeal Syndrome 04286.TXT `"I"Copyright (C) 1990 National Organization for Rare Disorders, Inc. 768: Trichotillomania _________________________ ** IMPORTANT ** It is possible that the main title of the article (Trichotillomania) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hair pulling Information on the following diseases can be found in the Related Disorders section of this report: Obsessive Compulsive Disorder General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Trichotillomania is a mental illness characterized by an overwhelming and irresistible impulse to pull out one's own hair. This results in patches of baldness, usually on the most easily accessible areas such as the scalp, eyebrows, eyelashes or beard. Mouthing of the hair (trichophagy) commonly follows the hair pulling. Trichotillomania is classified as a disorder of impulse control. Symptoms The principle symptom of Trichotillomania is the recurrent failure to resist impulses to pull out one's own hair. An individual with this disorder usually feels extremely tense immediately before pulling out the hair. The act of hair pulling usually results in a sense of release from this tension. Hairs may be broken off or pulled out. Patches of baldness usually result on the scalp. Other areas commonly involved are the eyebrows, eyelashes, and beard. Hair from the trunk, armpits and pubic area is less commonly pulled out. Other symptoms of Trichotillomania include the appearance of short, broken strands of hair together with long, normal hairs in the affected areas. There is usually no scarring of the surface of the scalp. There may be a generalized itching or tingling in the involved areas, but pain does not routinely follow the hair plucking. Individuals with Trichotillomania usually deny that the hair-pulling behavior exists, and often take great strides to conceal or camouflage the resultant baldness. Affected individuals may wear wigs and false eyelashes. When an affected individual exhibits unexplained baldness, a scalp biopsy will usually uncover the traumatic source. Plugs of fibrous protein (keratin) are found present in the scalp along with an absence of inflammation or scarring. There are usually characteristic changes in the structure of the hair follicle (trichomalacia). People with Trichotillomania may also have symptoms of head-banging, nail-biting, scratching, gnawing, abrading or wearing off of the skin (excoriation) and other acts of self-mutilation. Children with Trichotillomania commonly suck their fingers. The disorder has been known to persist for two decades in some individuals. Approximately one-third of reported cases claim a duration of one year or less. Frequent periods of worsening symptoms and remissions are common. Causes The exact cause of Trichotillomania is not known. Approximately one-quarter of the reported cases have been linked to stressful situations such as disturbances in mother-child relationships, fear of being left alone and recent loss of a loved one. Psychoactive substance abuse may also contribute to the development of this disorder. Some scientists believe that Trichotillomania is a subcategory of Obsessive Compulsive Disorder (OCD) which may be caused by certain imbalances in brain chemicals (see OCD in related disorders section). When the onset of Trichotillomania occurs in adulthood, it commonly accompanies a psychotic disorder. Affected Population Trichotillomania usually occurs in childhood but cases have been reported with an onset as late as 62 years. The disorder is more common in individuals with Mental Retardation, Schizophrenia, Obsessive Compulsive Disorder or Borderline Personality Disorder. Eldest and only children are most often afflicted. Trichotillomania occurs more frequently in women. Some physicians estimate that Obsessive Compulsive Disorders such as Trichotillomania may affect as many as eight million Americans. However, epidemiological studies have never been conducted so it is impossible to estimate how many people without mental retardation are affected, and how many of those have Trichotillomania alone instead of other OCD symptoms (such as repeated hand washing). Related Disorders Symptoms of the following disorder can be similar to those of Trichotillomania. Comparisons may be useful for a differential diagnosis: Obsessive Compulsive Disorder is characterized by recurrent obsessive and compulsive thoughts and actions. Obsessions are persistent ideas, thoughts, impulses or images that the patient knows are senseless. Attempts are made to ignore or suppress such thoughts or impulses, or to counteract them with some other thought or action. The individual recognizes that the obsessions are the product of his or her own mind, but they are difficult to resist. Many scientists believe that Trichotillomania and Obsessive Compulsive Disorder are caused by related brain chemical abnormalities because they are often responsive to the same drug treatments. (For more information on this disorder, choose "Obsessive Compulsive" as your search term in the Rare Disease Database). Therapies: Standard Medications which are used in treating Trichotillomania include chlorpromazine, isocarboxazid, amitriptyline and imipramine. Psychoanalysis, intensive psychotherapy, and behavior-modification therapy may be helpful in some cases. Therapies: Investigational The drug clomipramine, an antidepressant, is an FDA approved treatment for Obsessive Compulsive disease that is being investigated as a treatment for Trichotillomania. Clomipramine works by enhancing the action of brain serotonin (one of the chemicals that transmits messages between nerve cells). The drug is manufactured by Ciba-Geigy. The National Institutes of Health (NIH) is looking for males from ages 6-60 for a study on Trichotillomania. If persons of this age group want to get information concerning the study on the compulsion to pull out hair on their head, eyelashes, eyebrows, or any other place on their body, call Marge Lenane at (301) 496-6081 for information about this drug study being carried out by the National Institutes of Mental Health. This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Trichotillomania, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Obsessive-Compulsive Disorder Foundation P.O. Box 60 Vernon, CT 06066 (203) 255-8844 National Mental Health Association 1021 Prince Street Alexandria, VA 22314 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) Dr. Wayne Goodman Clinical Neuroscience Research Unit Yale School of Medicine CT Mental Health Center 34 Park Street, 3rd Floor New Haven, CT 06508 (203) 798-7334 References DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3d.: R.L. Spitzer, et al., eds; American Psychiatric Association, 1984. Pp. 326-328. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 2281. RETURN OF SYMPTOMS AFTER DISCONTINUATION OF CLOMIPRAMINE IN PATIENTS WITH OBSESSIVE COMPULSIVE DISORDER. M.T. Pato et al.; AM J Psychiatry (December, 1988: issue 145 (12)). Pp. 1521-1525. TRICOTILLOMANIA. S.A. Muller; DERMATOL CLIN (July, 1987: issue 5 (3)). Pp. 595-601. TRICHOTILLOMANIA IN CHILDHOOD. A.P. Oranje et al.; J AM ACAD DERMATOL (October, 1986: issue 15 (4 Pt. 1)). Pp. 614-619. Trichotillomania_# b#pagetitle 768: Trichotillomania 04287.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 273: Trigeminal Neuralgia (Tic Douloureux) _________________________ ** IMPORTANT ** It is possible the main title of the article (Trigeminal Neuralgia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Tic Douloureux Fothergill Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Trigeminal Neuralgia, also known as Tic Douloureux is a nerve disorder characterized by attacks of acute pain at the side of the mouth and nose, along distribution of the trigeminal nerve. Symptoms The most noteworthy symptom of Trigeminal Neuralgia is the recurrence of episodes of intense, lancinating pain at the upper jaw and side of the nose. The pain may be triggered both by tactile stimuli such as the brushing of the teeth or chewing, and by extreme heat or cold. Symptoms are limited in most cases to one side of the face, with flushing of the skin and tearing of the eye on the affected side. Another sign of the disorder is excessive salivation. What distinguishes Trigeminal Neuralgia from similar disorders is the extremely short duration of the attack, usually only a few seconds, and the specificity of the region where pain is most intense. Also distinctive in the diagnosis of Trigeminal Neuralgia is its lack of any clinical or pathologic signs. Causes Trigeminal Neuralgia is in most cases found to be caused by compression by a blood vessel (vascular compression) of the root entry zone of the trigeminal nerve. Toxic, nutritive and infectious factors are believed to be possible sources of the disorder, but usually the exact cause is still unknown. Affected Population Trigeminal Neuralgia is found usually to affect older patients of both sexes. Related Disorders Glossopharyngeal Neuralgia is a rare syndrome that, like Trigeminal Neuralgia, has symptoms of excruciating facial pain. In this related disorder, however, pain tends to center around the throat, tonsils, the back of the tongue and the middle ear, originating usually at the base of the tongue. Glossopharyngeal Neuralgia affects men more prevalently than women, and usually appears after age 40. In differential diagnosis, Trigeminal Neuralgia may be ruled out by tactile stimulation of the throat resulting in an attack, which can then be ameliorated by application of the drug tetracaine in Glossopharyngeal Neuralgia. Sphenopalatine Ganglion Neuralgia is another related disorder. Caused by an infection in the accessory nasal sinus, this disorder can be identified by its symptomatic pain in the face, eye, upper jaw, root of the nose, teeth, ear, neck and shoulder. Prognosis for this disease is generally quite favorable. A neoplasm, tumor or another lesion impinging on the nerve can also result in symptoms like those associated with Trigeminal Neuralgia. Pain in these cases, however, is usually persistent and results in sensory impairment. Post-herpetic pain, occurring after a herpes virus infection, also may cause facial pains. This is caused by neural impairment, yet it is identifiable as such by the history of the appearance of a herpetic rash usually located near the eyes. Multiple sclerosis, which in some cases actually causes Trigeminal Neuralgia, is usually distinguishable by its fluctuating neurological symptoms. (For more information on this disorder, choose "Multiple Sclerosis" as your search term in the Rare Disease Database.) Therapies: Standard Prognosis of Trigeminal Neuralgia is generally favorable, with both medical and surgical means of treatment. The drug carbamazine (Tegretol) is often an effective treatment for the disorder; administration of this drug should be accompanied by a monitoring of liver and hemapoietic (relating to formation of blood cells) functions. In some patients, phenytoin (Dilantin) has been found to an be effective treatment. In terms of surgical treatments, the most widely used is the Jannetta procedure, which involves the removal of vascular structures pressing on the trigeminal ganglion. In another possible treatment, a percutaneous needle makes electrolytic lesions of the trigeminal ganglion. In cases of intractable pain, the 5th nerve fibers near the trigeminal ganglion are surgically sectioned. Therapies: Investigational Tinzanidine, used experimentally as a treatment in Trigeminal Neuralgia, has been designated an orphan drug and approved for study in the United States by the Food and Drug Administration (FDA). It should be remembered that although this orphan drug is available experimentally in the United States, it is still under study and conclusive results are not yet reported. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Trigeminal Neuralgia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Trigeminal Neuralgia Support Group P.O. Box 785 Barnegat Light, NJ 08006 (609) 361-1014 NIH/National Institute of Dental Research Clinical Pain Division 9000 Rockville Place Bethesda, MD 20892 (301) 496-4261 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 References Trigeminal Neuralgia: Treatment by Microvascular Decompression: PJ Jannetta; In: Neurosurgery; Wilkins et al., eds.: McGraw-Hill (1984). Trigeminal Neuralgia (Tic Douloureux) pagetitle 273: Trigeminal Neuralgia (Tic Douloureux) 04288.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 710: Triploid Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Triploid Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Triploidy Syndrome Triploidy Chromosome Triploidy Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Trisomy Down Syndrome 11q Syndrome 18p Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Triploid Syndrome is an extremely rare chromosomal disorder. A complete extra set of chromosomes totalling sixty-nine, rather than the normal forty-six, is found in the infant. Babies with Triploid Syndrome usually are lost through early miscarriage. However, some infants have been born and survived as long as five months. The infant shows severely retarded fetal growth and many other prenatal abnormalities. Symptoms Triploid Syndrome symptoms may include miscarried fetuses occuring early in pregnancy, larger than normal size placenta, lack of prenatal skeletal growth, wider than normally spaced eyes (ocular hypertelorism), low nasal bridge, low-set malformed ears and a smaller than normal sized jaw. The third and fourth fingers of the hands may be connected, and the hands may have unusual simian creases. The infant may show congenital heart defects and also defects of the sex organs (smaller than normal sized organs and urinary openings in abnormal locations). There may also be abnormal brain development and lack of development of both the adrenal glands and the kidneys. Less often there is an unusually shaped skull, cleft lip and/or palate, growth of the brain or spinal cord outside of the body (meningomyelocele), and hernias. There may also be liver and gallbladder deformities, twisted colon, and finger and toe deformities. The Triploid Syndrome is often associated with pregnancies which occur soon after oral contraceptives are discontinued. The pregnant mother experiences extremes of high blood pressure (hypertension), swelling (edema), and excretion of albumin in the urine (albuminuria). This condition is called toxemia or preeclampsia. In several instances a triploid pregnancy has been followed or preceded by a cyst-like (molar) pregnancy. Causes Triploid Syndrome is caused by a complete extra set of chromosomes. The triplication of the chromosomes is most often caused by double fertilization of an egg rather than an egg with extra chromosomes. The disorder is not inherited; it is a birth defect. Affected Population Triploid Syndrome occurs in very rare instances, usually in pregnancies that occur after oral contraceptive use or after a miscarried molar pregnancy. The syndrome does not seem to be affected by the age of the parents. It affects male and female infants in equal numbers. Related Disorders Symptoms of the following disorders are caused by duplication, triplication or deletion of chromosomes: Trisomies are very rare genetic disorders characterized by a triple chromosome. The most common symptom of the trisomies is mental retardation. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. People with a Trisomy have an extra chromosome added to one of the normal pairs. The triplication of the chromosome may be partial, either an extra short arm (p+) or an extra long arm (q+). Defects are classified by the name of the abnormal chromosome pair and which portion of the chromosome is affected. (For more information on this disorder, choose "Trisomy" as your search term in the Rare Disease Database). Down Syndrome is the most common and readily identifiable genetic condition caused by a chromosomal abnormality. One additional chromosome is present. Children with Down Syndrome have some degree of mental retardation. That can range from mild to profound. However, most children with Down Syndrome function in the mild to moderate range. Many of the children can be educated in the public schools, learn basic academic and pre-vocational skills with special training, and perform many daily living activities independently. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database). 11q Syndrome (Jacobsen Syndrome) is a rare genetic disorder affecting the long arm of chromosome 11. The disorder may be characterized by a narrow protruding forehead, eye problems, abnormally shaped nose and mouth and mental retardation. This syndrome is caused by a deletion on the long arm (q) of chromosome 11. The severity and type of abnormality depends upon the size and location of the missing chromosome piece. The cause of the chromosome break itself is unknown. (For more information on this disorder, choose "11q" as your search term in the Rare Disease Database). 18p Syndrome is a deletion of the short arm (p) of chromosome 18. It is characterized by unusual facial features and mild to severe mental retardation. This syndrome may also include growth deficiency, diminished muscle tension and a smaller than normal sized brain. There may also be behavior problems and delayed speech. (For more information on this disorder, choose "18p" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Triploid Syndrome is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Triploid Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D., W.B. Saunders Company, 1988. Pp. 32-35. DIPLOSPERMY II INDICATED AS THE ORIGIN OF A LIVE BORN HUMAN TRIPLOID (69, XXX). B.M. Page, et al.; J Med Genet (October, 1981, issue 18 (5)). Pp. 386-389. MORPHOLOGIC ANOMALIES IN TRIPLOID LIVEBORN FETUSES. N. Doshi, et al.; Hum Pathol, (August, 1983, issue 14 (4)). Pp. 716-723. MIDTRIMESTER PREECLAMPTIC TOXEMIA IN TRIPLOID PREGNANCIES. R. Toaff, et al.; Isr J Med Sci, (March, 1976, issue 12 (3)). Pp. 234-239. THE ORIGIN OF HUMAN TRIPLOIDS. P.A. Jacobs. et al.; Ann Hum Genet, (July, 1978, issue 42 (1)). Pp. 49-57. Triploid Syndrome ic se h pagetitle 710: Triploid Syndrome 04289.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 931: Trismus Pseudocamptodactyly Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Trismus Pseudocamptodactyly Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Camptodactyly, Facultative Type Camptodactyly-Limited Jaw Excursion Camptodactyly-Trismus Syndrome Hecht Syndrome Mouth, Inability To Open Completely-Camptodactyly Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons Information on the following diseases can be found in the Related Disorders section of this report: Camptodactyly Gordon Syndrome Spasmodic Torticollis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Trismus Pseudocamptodactyly Syndrome is a rare disorder inherited as an autosomal dominant genetic trait. The major features of this disorder are an inability to open the mouth completely and a bending deformity of the fingers that occurs when extending the wrist backward. Abnormally short muscle tendons are the cause of these conditions. Symptoms Pseudocamptodactyly Syndrome is a rare disorder in which the patient is born with short muscle tendons that prevent normal growth and development. One of the major features of this disorder is a limited ability to open the mouth. This condition makes chewing difficult for some. The cause of the limitation in opening the mouth has not been determined and in some cases has been so subtle that it has gone unnoticed. Short flexor tendons in the fingers is another feature of Trismus Pseudocamptodactyly Syndrome. This causes a condition in which the fingers bend toward the palm of the hand when the wrist is flexed backward. Some patients with Trismus Pseudocamptodactyly Syndrome also have short flexor muscles of the feet. This can cause abnormalities such as: toes that turn downward (talipes equinovarus); inward curvature of the heel with the foot twisted in an abnormal position (metatarsus adductus); a flat arch of the foot (pes planus); an abnormality in which the front part of the foot is pointed in toward the middle of the body while the heel remains straight (metatarsus varus); and/or a condition in which the foot is flexed backward and turns outward (calcaneovalgus). Other symptoms found in some patients with Trismus Pseudocamptodactyly Syndrome may be: short stature; a short muscle in the back of the leg (gastrocnemius); short muscles in the back of the thigh (hamstrings) causing a tilt of the pelvis; and/or mild spasms of the neck causing the head to tilt (spasmodic torticollis). Causes Trismus Pseudocamptodactyly Syndrome is inherited as an autosomal dominant genetic trait with a variance in the severity. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Trismus Pseudocamptodactyly Syndrome is a rare disorder that affects males and females in equal numbers. Many American cases of this disorder have been traced to a Dutch girl who migrated to Tennessee. Five cases in three generations of a Japanese family have also been reported. There have been over thirty-five cases of this disorder reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Trismus Pseudocamptodactyly Syndrome. Comparisons may be useful for a differential diagnosis: Camptodactyly is a rare disorder that may occur alone or be associated with a syndrome. When Camptodactyly occurs alone it is inherited as an autosomal dominant genetic trait. This disorder is characterized by fingers flexed towards the palm of the hand. Typically all the fingers are affected except the thumb. The toes may be affected in some cases. Camptodactyly affects males and females equally. Gordon Syndrome is a rare disorder that belongs to a group of genetic musculoskeletal disorders called the Distal Arthrogryposes. This disorder is characterized by permanent flexion of one or more fingers (camptodactyly), a cleft palate, and clubfeet. Other developmental abnormalities may also occur. (For more information on this disorder, choose "Gordon Syndrome" as your search term in the Rare Disease Database). Spasmodic Torticollis is a tonic or intermittent spasm of the neck muscles resulting in rotation and tilting of the head which is often painful. There are three different varieties of the disorder: tonic causing sustained turning of the head due to increased asymmetric muscle tone in one or more neck muscles; clonic which causes shaking movements of the head; and mixed tonic and clonic involving both kinds of movement. (For more information on this disorder choose "Spasmodic Torticollis as your search term in the Rare Disease Database). Therapies: Standard Patients with deformities of the foot will require orthopedic care. Physical Therapy may be of benefit to some patients. Genetic counseling may be of benefit for patients and their families. Genetic testing of families (linkage analysis) has been performed to identify carriers of the gene. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Trismus Pseudocamptodactyly Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS 9000 Rockville Pike Bethesda, MD 20892 (301) 495-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp.724. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 190. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 257-58. TRISMUS PSEUDOCAMPTODACTYLY SYNDROME: DUTCH-KENTUCKY SYNDROME: C.C. Mabry, et al.; J Pediatr (October, 1974, issue 85(4)). Pp. 503-8. LINKAGE ANALYSIS WITH THE TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME: R.D. Robertson, et al; Am J Med Genet (May, 1982, issue 12(1)). Pp. 155-20. ORTHOPEDIC ASPECTS OF THE TRISMUS PSEUDOCAMPTODACTYLY SYNDROME. P.J. O'Brien, et al.; J Pediatr Orthop (August, 1984, issue 4(4)). Pp. 469-71. Trismus Pseudocamptodactyly Syndrome !pagetitle 931: Trismus Pseudocamptodactyly Syndrome 04290.TXT %Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 429: Trisomy _________________________ ** IMPORTANT ** It is possible the main title of the article (Trisomy) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Chromosomal Triplication There are many different types of trisomies which are usually identified by numbers and letters. This entry contains information on the following specific trisomies: Trisomy 6p, Partial Trisomy 8 Trisomy 9p Trisomy 10q Trisomy 13 Syndrome (Patau's Syndrome) Trisomy 18 Syndrome (Edward's Syndrome) Trisomy 21 Syndrome (Down Syndrome) Trisomy 22, Partial (Cat-Eye Syndrome) General Discussion: ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Trisomies are very rare genetic disorders characterized by a chromosome aberration. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. People with a Trisomy have an extra chromosome added to one of the normal pairs. Each chromosome has a short arm which is designated "p", and a long arm identified by the letter "q". The triplication of the chromosome may be partial; i.e. either an extra short arm or an extra long arm is present. Defects are classified by the name of the abnormal chromosome pair and which portion of the chromosome is affected. For example, 22p+ means that there is an extra short arm added to the 22nd pair of chromosomes. In general, the most common symptom of the trisomies is mental retardation. Symptoms Trisomies are often characterized by mental retardation. Following is a description of a few trisomy disorders: PARTIAL TRISOMY 6p: This disorder is characterized by a triplicated section of the short arm of the 6th chromosome. Mental retardation, multiple facial abnormalities as well as malformations of the lungs, kidney and the presence of two kidneys on one side of the body with crossed ureters may occur. TRISOMY 8: Patients with this form of Trisomy are often slender and of normal height. The ears are low-set and malformed, and the eyes tend to be slanted down. Bone and joint abnormalities may involve the ribs, spine and kneecaps; joint contractures with poor range of motion are frequent. Unusually deep creases in the palms and the soles of the feet are evident. There is mild to moderate mental and motor retardation, often with delayed and hard to understand speech. Most of the patients are chromosomal mosaics, (i.e., they have two or more cell types that have different numbers of chromosomes). TRISOMY 9p is identified by an extra short arm of the 9th chromosome. This disorder is characterized by abnormalities in the hands, feet, and pelvic bones. The pattern of bone structures in X-rays of patients with Trisomy 9p appears to be unique among patients with chromosomal abnormalities. Other symptoms include down-turned corners of the mouth, a large rounded nose, slightly wide and deep-set slanted eyes, unusual fingerprints and mental retardation. TRISOMY 10q: This type of Trisomy is characterized by a triplication of part of the long arm of the 10th chromosome. The predominant symptoms of this disorder include a long head (dolichocephaly), prominent forehead, and abnormally open seams and soft spots (fontanelles) on the skull at birth. A broad nose, cleft lip and palate, clubfoot, and cysts in the kidney may also occur. TRISOMY 13 SYNDROME (PATAU'S SYNDROME) is a genetic disorder which occurs in approximately 1 in 5,000 live births. It is characterized by midline abnormalities, gross defects of the brain, mental retardation, and cleft lip and/or cleft palate in most cases. (For more information on this disorder, choose "Trisomy 13" as your search term in the Rare Disease Database.) TRISOMY 18 SYNDROME (EDWARDS' SYNDROME) is a genetic disorder with onset before birth. Paternal and maternal age are usually higher than average. Babies appear thin and frail. They fail to thrive and have difficulty feeding. These children show generalized increased muscle tension (hypertonicity) with rigidity in flexion of the limbs, and mental retardation. (For more information on this disorder, choose "Trisomy 18" in the Rare Disease Database.) PARTIAL TRISOMY 22 (CAT-EYE SYNDROME) is characterized by a congenital absence or defect of certain eye tissue called coloboma, and the lack of an opening for the anus (atresia). Severe mental and physical retardation, wide-set slanted eyes, small skin appendages (tags) or openings to the inside of the mouth (fistulas) in front of the ears may develop. Congenital heart disease may also occur. Full trisomy has been reported in a few patients with similar symptoms, but a small jaw and low muscle tone (hypotonia) distinguishes them from the partial Trisomy. TRISOMY 21, also known as DOWN SYNDROME is the most prevalent and readily identifiable genetic condition associated with mental retardation. The extra chromosome 21 changes the orderly development of body and brain. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database.) Causes The Trisomies are inborn abnormalities of the chromosomes. In some cases the chromosome abnormalities are related to advanced maternal or paternal age. Some genetic counselors suggest that pregnant women over the age of 35 should undergo amniocentesis to rule out these birth defects. Affected Population Most Trisomies are very rare disorders that affect patients from birth. Some Trisomies might affect a few hundred or a few thousand children per year; some may affect only a handful of children in the United States. The most common Trisomy is Down Syndrome (Trisomy 21 Syndrome) affecting approximately 7,000 newborn infants each year. (For more information, choose "Down Syndrome" as your search term in the Rare Disease Database.) Related Disorders There are many possible Trisomy disorders with a wide range of symptoms. There are many causes of mental retardation, most of which are genetic anomalies which are not trisomies. Therapies: Standard Children with mental retardation associated with Down Syndrome (Trisomy 21) usually benefit from early intervention programs and special education. Parent and infant education can begin immediately after birth. The individual child should receive direct service programming to develop learning, language, mobility, self-care and socialization skills. Toddler and preschool programs can further enhance the acquisition of skills to enable people with mental retardation to reach their maximum potential. Genetic counseling will be helpful to families of patients with a Trisomy disorder. Women over the age of 35 who are planning to have children may wish to undergo amniocentesis since many trisomies can be detected before birth. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Trisomy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Support Organization for Trisomy 18/13 (SOFT 18/13) National Headquarters 4625 Lindell Blvd., Suite 501 St. Louis, MO 63108 (314) 367-0055 Trisomy 9p Support Group 160 Locket Rd. Harrow Weald, Middlesex, Scotland, HA3 7NZ Contact Group for Trisomy 9P 11 Durgoyne Drive Bearsden Glasgow, Scotland S.O.F.T. Canada Inc. 1214 Concession 5 West RR 2 Waterdown, Ontario LOR 2H2 (416) 659-3216 Association for Retarded Citizens of the U.S. P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 1-800-433-5255 National Down Syndrome Congress 1640 West Roosevelt Road Chicago, IL 60608 (312) 226-0416 (800) 446-3835 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References RED BLOOD CELL GLUCOSE METABOLISM IN TRISOMY 10p: POSSIBLE ROLE OF HEXOKINASE IN THE ERYTHROCYTE: M. Magnani, et al.; Blood (May 1983: issue 61,5). Pp. 71-75. TRISOMY 11p15 AND BECKWITH-WIEDEMANN SYNDROME. REPORT OF TWO NEW CASES: H. Journel, et al.; Annales Genet (Paris) (1985: issue 28,2). Pp. 97-101. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Trisomy &pagetitle 429: Trisomy 04291.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 218: Trisomy 13 Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Trisomy 13 Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find the alternate names and disorder subdivisions covered by this article. Synonyms Patau's Syndrome Trisomy 13-15 Syndrome D Trisomy Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Trisomy 13 Syndrome is a genetic disorder which occurs in approximately 1 in 5,000 live births. It is characterized by midline anomalies, gross defects of the brain, and cleft lip and/or cleft palate in most cases. Symptoms Infants affected with Trisomy 13 Syndrome tend to be small at birth. Spells of interrupted breathing (apnea) in early infancy are frequent, and mental retardation is usually severe. Many affected children appear to be deaf. A moderately small head (microcephaly) with sloping forehead, wide joints, and openings between the parietal bones of the head are present. Gross anatomic defects of the brain, especially failure of the forebrain to divide properly (holoprosencephaly), are common. A hernial protrusion of the cord and its meninges through a defect in the vertebral canal (myelomeningocele) is found in almost 50% of cases. The entire eye is usually small (microphthalmia), and a defect of the iris tissue (coloboma), and faulty development of the retina (retinal dysplasia) occur frequently. The supraorbital ridges are shallow and palpebral fissures are usually slanted. Cleft lip, cleft palate, or both are present in most cases. The ears are abnormally shaped and unusually low-set. A single transverse crease on the palm, extra fingers and toes (polydactyly), and hyperconvex narrow fingernails are common. The fingers tend to be flexed, but not in the characteristic manner seen in Trisomy 18 Syndrome. The feet show posterior prominence of the heel, and there may be a rocker-bottom foot. Approximately 80% of cases show the following additional congenital anomalies: 1. An opening in the ventricular septum of the heart (ventricular septal defect) 2. Persistent blood vessel connecting the aorta to the pulmonary artery (patent ductus arteriosus) 3. An opening in the septum between the two atria in the heart (atrial septal defect) 4. Abnormalities in the pulmonary and/or aortic valves. (For more information on specific heart anomalies, see articles in the Rare Disease Database.) Location of the heart in the right side of the chest (dextrocardia) is common as well. Tumors made up of newly formed capillary blood vessels (capillary hemangiomas), especially on the forehead in the midline, may also be present. Other midline defects include dermal sinuses on the scalp and loose folds of skin over the back of the neck. The genitalia are frequently abnormal in both sexes. Failure of the testes to descend into the scrotum (cryptorchidism) and abnormally developed scrotum may occur in males. A uterus with horn-shaped branches (bicornuate) sometimes occurs in females. Hematologically, there is an increased frequency of nuclear projections in polymorphonuclear leukocytes and a persistence of fetal hemoglobin. Causes An additional chromosome 13 causes the abnormalities of this genetic, developmental disorder, Trisomy 13 Syndrome. Affected Population Trisomy 13 Syndrome occurs in one in 5,000 live births. Males and females of all nationalities and races are affected equally. Therapies: Standard Treatment for Trisomy 13 Syndrome is symptomatic and supportive. Special education, physical therapy and other medical, social, or vocational services are of benefit to the patient, and are often necessary for the child to reach his/her full potential. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Trisomy 13 Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Support Organization for Trisomy 18/13 (SOFT 18/13) National Headquarters 4625 Lindell Blvd., Suite 501 St. Louis, MO 63108 (314) 367-0055 S.O.F.T. Canada Inc. 1214 Concession 5 West RR2 Waterdown, Ontario LOR 2H2 (416) 659-3216 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Association for Retarded Citizens of the U.S. P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 (800) 433-5255 Mental Retardation Association of America 211 East 300 South, Suite 212 Salt Lake City, UT 84111 (801) 328-1575 In Touch 10 Norman Road Sale, Cheshire M33 3DF Hants, England For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 20-5. Trisomy 13 Syndrome pagetitle 218: Trisomy 13 Syndrome 04292.TXT Copyright (C) 1986, 1992 National Organization for Rare Disorders, Inc. 217: Trisomy 18 Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the Article (Trisomy 18 Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Trisomy 18 Edward's Syndrome Trisomy E Trisomy 16-18 General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Trisomy 18 Syndrome is a genetic disorder with onset before birth. Paternal and maternal age are usually above average. Babies appear thin and frail. They fail to thrive and have difficulty feeding. These children show generalized increased muscle tension (hypertonicity) with rigidity in flexion of the limbs and mental retardation. Symptoms The newborn infant with Trisomy 18 is premature or small for its gestational age, with markedly retarded development (hypoplasia) of skeletal muscle and subcutaneous fat. The baby's cry is weak, and response to sound is decreased. There is often a history of feeble fetal activity, excess of fluid in the fetal sac, a small placenta, and a single umbilical artery. The back part of the head is prominent; there is a narrow bifrontal diameter with decreased orbital ridges, short eyelid fissures, a small mouth and unusually small jaw, all of which give the face a pinched appearance. A small head (microcephaly), fold of the eyelid in the lateral corner of the eye (epicanthal folds), low-set malformed ears, and cleft lip and/or palate are common. The peculiar clenched fist with the index finger overlapping the 3rd and 4th fingers is almost distinctive of this disorder. Absence of the distal crease on the 5th finger is common as is a low-arch dermal ridge pattern on the fingertips. The nails are underdeveloped and the big toe is shortened and frequently bent backward (dorsiflexed). Underdeveloped or absent thumbs, clubfeet, rocker-bottom feet, and webbed fingers and toes (syndactyly) may also occur. An opening in the ventricular septum of the heart (ventricular septal defect), persistent blood vessel connecting the aorta to the pulmonary artery (patent ductus arteriosus), an opening in the septum between the two atria in the heart (atrial septal defect), and abnormalities in the pulmonary and/or aortic valves may be present. (For more information on these defects, please see the articles in the Rare Disease Database.) Congenital anomalies of the lung, diaphragm, kidneys and ureters are frequent. Hernias and/or separation of the rectus muscles of the abdominal wall, redundant skin folds especially over the back of the neck, and, in males, failure of the testes to descend into the scrotum are also common. Mental retardation in Trisomy 18 Syndrome is usually severe. Causes Trisomy 18 Syndrome is caused by the presence of a third chromosome 18. This chromosome is responsible for the physical and mental abnormalities of this developmental disorder. Affected Population Female infants are affected 3 times greater than male infants with Trisomy 18 Syndrome. Children with this disorder are generally born to older parents. Therapies: Standard Treatment of Trisomy 18 Syndrome is symptomatic and supportive. Special education, physical therapy, and other medical, social, or vocational services are of benefit to the patient, and are often necessary for the child to reach his/her full potential. Therapies: Investigational This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Trisomy 18 Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Support Organization for Trisomy 18/13 (SOFT 18/13) National Headquarters 4625 Lindell Blvd., Suite 501 St. Louis, MO 63108 (314) 367-0055 S.O.F.T. Canada Inc. 1214 Concession 5 West RR2 Waterdown, Ontario LOR 2H2 (416) 659-3216 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20205 (301) 496-5133 Association for Retarded Citizens of the U.S. P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 (800) 433-5252 Mental Retardation Association of America 211 East 300 South, Suite 212 Salt Lake City, UT 84111 (801) 328-1575 In Touch 10 Norman Road Sale, Cheshire M33 3DF Hants, England For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 16-9. Trisomy 18 Syndrome pagetitle 217: Trisomy 18 Syndrome 04293.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 89: Tropical Sprue _________________________ ** IMPORTANT ** It is possible that the main title of the article (Tropical Sprue) is not the name you expected. Please check the SYNONYM listing to find alternate names and disorder subdivisions covered by the article. Synonyms Hill Diarrhea Tropical Diarrhea General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Malabsorption, multiple nutritional deficiencies, and abnormalities in the small bowel mucosa are the chief characteristics in Tropical Sprue, a disorder of unknown cause. The disease is acquired and appears to be related to environmental and nutritional conditions. It is most prevalent in the Caribbean, south India, and southeast Asia. Symptoms Symptoms of Tropical Sprue may include fatigue, diarrhea with stools that are copious, pale and malodorous, anorexia, loss of weight, asthenia (loss of strength and energy) and general weakness. The onset of the disorder may be acute. There may be fever and an inflammation of the mouth and tongue. The skin may be dry and there may be scaling apparent on the lips and at the angles of the mouth. Some patients may experience mental depression. Some patients experience spontaneous remission. Treatment of the disorder in its early stages may result in rapid and complete recovery. The restoration of normal intestinal structure and function may be slower if treatment is begun later in the course of the disease. Tropical Sprue may become chronic with frequent relapses. Malabsorption of fats and xylose, reduction in the absorption of iron, vitamin B12, and folate, and megaloblastic anemia are common findings. Causes Tropical Sprue is a disease of unknown cause. It is an acquired disorder which appears to be related to environmental and nutritional conditions. The disease may be related to an infectious organism (either viral or bacterial), dietary toxin, parasitic infestation, or a nutritional deficiency such as folic acid. Damage to intestinal mucosa which results in an impairment of the absorption of foods, minerals, and water may be produced by these agents. Affected Population Tropical Sprue occurs chiefly in the Caribbean area, south India, and southeast Asia. Both residents of the area and visitors can be affected. Therapies: Standard Treatment for Tropical Sprue includes the use of folic acid and tetracycline or oxytetracycline or ampicillin. The dosage depends on the severity of the disorder as well as how the patient responds to the therapy. Other replacement therapy is given as needed (e.g., iron, vitamin B12). Diarrhea may be controlled with Lomotil or Imodium. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tropical Sprue, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 743. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 794. Tropical Sprue= pagetitle 89: Tropical Sprue 04294.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 180: Truncus Arteriosus, Persistent _________________________ General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. The truncus arteriosus is a fetal structure which gives rise to the two large arteries emerging from the heart, the aorta and the pulmonary artery. When the truncus arteriosus persists beyond the fetal stage, blood from both ventricles mixes and enters the pulmonary, coronary (serving the heart muscle), and systemic (serving all the organs except the lungs and heart) circulation. Because not all the blood flowing to the body has passed through the lungs to absorb oxygen, the tissues receive less oxygen than they should. In addition, the pulmonary vasculature is eventually damaged by the abnormally high blood pressures in the lungs. Persistent Truncus Arteriosus is a serious congenital heart defect, and is always accompanied by a ventricular septal defect (i.e., a hole in the wall separating the right and left ventricles). The condition is often fatal during infancy. Symptoms The symptoms of Persistent Truncus Arteriosus resemble those of a severe ventricular septal defect. They consist of congestive heart failure, cyanosis (a bluish tint to the flesh due to insufficient oxygen supply), an enlarged heart, and gradual destruction of the blood vessels of the lungs due to high pulmonary blood pressure. Infants feed poorly and fail to grow and develop normally. Characteristic heart sounds, electrocardiographic findings, and blood pressure abnormalities help in making the diagnosis. Causes The arrest or abnormality in embryonic development leading to congenital heart defects such as Persistent Truncus Arteriosus may result from various factors. These may include maternal rubella (measles), excessive alcohol consumption, or diabetes; heredity may also play a role in some cases. Related Disorders Various congenital heart defects are discussed in the Rare Disease Database. Please note that Pseudotruncus Arteriosus is a synonym for Tetralogy of Fallot, a different heart defect. (For more information on this disorder, choose "Tetralogy of Fallot" as your search term in the Rare Disease Database.) Therapies: Standard Medical measures to avert heart failure are fairly standard, and are of limited value in Persistent Truncus Arteriosus. Surgery may be possible in some cases. Therapies: Investigational This disease entry is based upon medical information available through May 1990 . Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Persistent Truncus Arteriosus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Eds.; W.B. Saunders Co., 1988. Pp. 308. Truncus Arteriosus, Persistent pagetitle 180: Truncus Arteriosus, Persistent 04295.TXT 6Copyright (C) 1987, 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 361: Tuberculosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Tuberculosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms TB Consumption Information on the following diseases can be found in the Related Disorders section of this report: AIDS Childhood Tuberculosis, also known as Primary TB Cutis Colliquativa Tuberculosis, also known as Tuberculous Gumma Disseminated Hematogenous Tuberculosis, also known as Miliary TB Tuberculosis Lichenoides, also known as Lichen Scrofulosorum Lymph Node Tuberculosis Papulonecrotic Tuberculosis Pulmonary Tuberculosis Pulmonary Atypical Tuberculosis Tuberculous Arthritis Tuberculosis of the Spine, also known as Pott Disease Pleural Tuberculosis Tuberculosis Peritonitis Tuberculous Meningitis Tuberculous Pericarditis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tuberculosis (TB) is an acute or chronic bacterial infection found most commonly in the lungs. The infection is spread like a cold, mainly through airborne droplets breathed into the air by a person infected with TB. The bacteria causes formation of small tissue masses called tubercles. In the lungs these tubercles produce breathing impairment, coughing and release of sputum. TB may recur after long periods of inactivity (latency) if not treated adequately. Many variations of TB exist and are distinguished by the area of the body affected, degree of severity and affected population. This disease today is considered curable and preventable. It is very rare in the United States but is on an upsurge. Symptoms Tuberculosis most commonly affects the lungs, producing breathing difficulties. It may also affect the kidneys, bones, lymph nodes, and membranes surrounding the brain. In some cases, it can spread throughout the body. In the initial stages patients may experience fever, loss of appetite, weight loss, weakness, and sometimes a dry cough. In the later stages of lung involvement, blood may appear in the sputum. Bleeding in the lungs may occur if an artery or tubercle (small tissue mass produced by the infection) ruptures. The patient can die of this infection if left untreated. Causes Tuberculosis is a bacterial infection usually caused by either Mycobacterium tuberculosis or Mycobacterium bovis. The Mycobacterium tuberculosis is the most common source of infection and is spread by airborne droplets breathed or coughed into the air by a person infected with active TB. In the past the disorder was caused in most cases by Mycobacterium bovis, a bacteria which was passed to humans through dairy products. Today, dairy and cattle are carefully inspected and tested for this type of TB, and infected products are not sold to the public in the United States. However, in less developed countries the TB infection is still passed to humans through dairy products. Affected Population In 1944, the Public Health Service launched a TB control program when the yearly number of cases in the United States averaged 126,000. In 1985, the number of cases had dropped to 22,201. However, health officials warn that TB is still a serious health problem, due in part to the rise of AIDS cases and the lowered resistance of AIDS patients to the TB infection. There are still approximately 2,000 deaths annually from TB in the United States which is more than all other infectious diseases excluding pneumonia and influenza. Areas with the highest incidence of AIDS victims such as New York City, California, Florida, and Texas are also the areas with the highest incidence of TB. TB may prove to be the first "opportunistic infection" related to AIDS with potential threat to the general public. An opportunistic infection is one that takes hold because the patient's immune system is weakened. (For more information on these disorders, choose "AIDS" and "Opportunistic Infection" as your search terms in the Rare Disease Database, and also see the AIDS Update area of NORD Services.) Recently, the southeast area of the United States and states bordering Mexico reported the highest Tuberculosis (TB) cases. Additionally, the recent influx of Southeast Asians, who have a high incidence of TB, now constitutes three to five percent of new cases in the U.S. Worldwide, TB is a major health problem with as many as four million new cases and three million deaths each year. The impact of TB is felt most by older and poorer people. Cases usually occur in individuals who were infected years ago, particularly the elderly. Many of these people grew up in the first decades of the century when eighty percent of the population had been infected (though not necessarily afflicted with an active case of TB) by the time they were thirty. The Centers for Disease Control (CDC) in Atlanta, GA currently estimates that ten million people worldwide have been infected by the tubercle bacillus, carrying a small but lifelong risk of developing active TB. There were 1,200 American children diagnosed with TB during 1984, leading to the conclusion that TB is still being spread by people with active infections. Every year thousands more children are apparently infected, but do not get the active disease, adding to the pool of those at risk of developing active TB in the future. Since 1984 the incidence of TB has been on the rise, especially in the elderly. Over 22,000 cases have been reported each year with over a third of the cases in individuals over sixty years of age. The elderly are susceptible to TB in two different ways: dormant germs from old infections becoming active again and new exposure at a time of life when immune defense is lower than in youth. In 1991, 25,709 cases were reported, a 9.4 perceny increase since 1989. Cases in children are also increasing. Other persons with suppressed immune systems, such as AIDS patients and persons taking drugs to suppress the body's immune response to transplants, are also at increased risk from exposure to TB. Related Disorders AIDS (Acquired Immune Deficiency Syndrome) involves progressive deterioration of the body's ability to ward off infection. Organisms which in a healthy person would either fail to cause disease, cause mild disease, or at least provoke immunity, can completely overwhelm the AIDS patient. Patients with AIDS can contract various life-threatening infections such as pneumocystis carinii pneumonia and Tuberculosis (TB). Additionally, they may develop a rare type of cancer called Kaposi's Sarcoma. Following is a list of the various subtypes of Tuberculosis: 1. Childhood Tuberculosis (TB, primary) involves first-time infection of TB. 2. Cutis Colliquativa Tuberculosis (Gumma, tuberculous) is a childhood type of TB involving lesions on the back and legs. 3. Disseminated Hematogenous Tuberculosis (TB, Miliary) is a serious form of TB with a sudden onset occurring mostly during early childhood. Many areas of the body are involved. 4. Tuberculosis Lichenoides (Lichen Scrofulosorum) occurs in children with a high immunity to TB. It is marked by red skin areas appearing chiefly on the trunk. 5. Lymph node Tuberculosis is an adult form of TB involving the lymph nodes. This disorder is marked by swelling and fever. 6. Papulonecrotic Tuberculosis occurs in adults. This form of TB involves the face, arms, legs, and trunk. Ulceration of the skin occurs causing small scars. This form of TB is likely to recur. 7. Pulmonary Tuberculosis is usually an active flare-up of some type of childhood TB affecting the lungs. 8. Pulmonary Atypical Tuberculosis is a type of TB caused by certain rarely seen Mycobacteria. This type of TB could extend to organs other than the lungs. 9. Tuberculous Arthritis involves the lungs initially then can spread to bones and joints and may be related to various other diseases including prior joint trauma, alcoholism, diabetes mellitus and chronic debilitating states that possibly predispose to activation of disease. 10. Tuberculosis of the Spine (Pott Disease) begins gradually and involves pain in the spinal nerve root and weight loss. More serious cases may cause paralysis. 11. Tuberculous Meningitis involves the central nervous system and is usually found in children aged one to five years although it may occur at any age. Headache and behavioral changes may be noticed initially. Later symptoms may include convulsive disorders, communicating hydrocephalus (accumulation of fluid in the brain cavity), mental retardation, and other neurological abnormalities. 12. Pleural Tuberculosis can occur in at least two forms usually in conjunction with Pulmonary TB. Surgical drainage may be required as well antituberculous treatment. 13. Genitourinary Tuberculosis (Tuberculous Pyelonephritis) is characterized by an initial lack of typical TB symptoms. When long established, this disorder may spread from the kidneys to the ureters, bladder, seminal vesicles, and prostate. 14. Tuberculous Peritonitis may spread from the lymph nodes, gastrointestinal tract or uterine tube and ovary to surrounding areas. Local tenderness and signs of infection are symptomatic of this type of TB. 15. Tuberculous Pericarditis is usually due to spread from infected mediastinal nodes (separating the lungs) and affects the membrane around the heart. Surgery may be necessary in the more serious cases of this type of TB. 16. Silicotuberculosis results from exposure to silicon dust. Therapies: Standard Continued testing of dairy herds as preventive therapy remains essential to the control of Tuberculosis. A tuberculin skin test, required for school-age children in the United States, is also extremely useful in identifying unsuspected cases of TB. Vaccination with BCG (a weakened strain of Mycobacterium tuberculosis) is useful in many parts of the world where the incidence of TB is high. However, this vaccine is used rarely in the United States. Antibiotic therapy with careful monitoring by a physician is necessary for cases of active tuberculosis. Hospitalizing or isolating a patient under treatment, as was done in the past, is usually no longer necessary to prevent the spread of TB. Hospitalization may be useful now in some cases for treating disabling symptoms or complications. Ten to fourteen days of antibiotic treatment is usually necessary before patients become noninfectious. The combined use of rifampin (RIF) and isoniazed (INH) for nine months is the current treatment of choice in cases of TB. Surgical treatment of some skin manifestations of TB may be of limited usefulness. Corticosteroid therapy (in conjunction with antibiotics) may be advantageous in some recurrent or very persistent cases, or in some cases that overlap with other diseases. Therapies: Investigational New methods of preventing Tuberculosis, and preventing the spread of existing cases of this disorder are under current investigation. The FDA has approved the following drug for testing as treatment for Tubuerculosis patients: The orphan drug Rifater (rifampin, isoniazid, pyrazinamide) is being tested for short-course treatment of Tuberculosis. The drug is manufactured by Marion Merrell Dow, Kansas City, MO. For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. The orphan product Para-Aminosalicylic acid is being developed for the treatment of Tuberculosis infections. It is sponsored by the Jacobus Pharmaceutical Company of Princeton, NJ. The clinical trials are now underway. The drug Thalidomide is being tested in the treatment of clinical manisfestations of mycobacterial infection caused by mycobacterial Tuberculosis and non-tuberculosis mycobacteria. The drug is sponsored by Celgene Corp., 7 Powder Horn Dr., Warren, NJ, 07059. The orphan product, gabbromicina, is being developed by the University of Illinois at Chicago for the treatment of Tuberculosis. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tuberculosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CURABLE, PREVENTABLE, BUT STILL A KILLER: TUBERCULOSIS: Annabel Hecht; FDA Consumer (Dec. 1986-Jan. 1987 issue). Pp. 7-10. Tuberculosis 7pagetitle 361: Tuberculosis 04296.TXT `(G(Copyright (C) 1984, 1985, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 35: Tuberous Sclerosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Tuberous Sclerosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Bourneville Pringle Syndrome Epiloia Phakomatosis TS Tuberose Sclerosis Tuberous Sclerosis-1 TSC1 Information on the following diseases can be found in the Related Disorders section of this report: Sturge-Walker Syndrome Hypomelanosis of Ito Epidermal Nevus Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tuberous Sclerosis is a rare neurological disorder characterized by seizures, mental retardation, developmental delay, and skin and eye (ocular) lesions. Patients may experience a few or all of the symptoms with varying degrees of severity. Symptoms The first symptoms of Tuberous Sclerosis occur during infancy or early childhood. Approximately 90 percent of patients have seizures as their first symptom. These episodes of seizures may include muscle spasms (myoclonic jerks). Brain wave abnormalities can be detected with an electroencephalograph (hypsarrhythmia). Two-thirds of patients with Tuberous Sclerosis are mildly or severely mentally retarded. Benign brain tumors may be detected with computerized tomography (CT scans), even in the developing fetus. Between 60 and 90 percent of infants with Tuberous Sclerosis have white patches or spots (hypomelanotic macules) on their skin at birth. The characteristic tumors of this disorder (adenoma sebaceum) appear between the ages of 3 and 5 years. The tumors generally become more numerous during puberty. Collagen (a white glistening protein) may accumulate in the skin of the lower back and back of the neck. This may appear as elevated, yellowish-brown patches with the texture of an orange peel. Small benign tumors (fibromas) may develop around or under the fingernails and the nail beds (periungual or subungual). Brown spots (cafe-au-lait macules) and soft saclike growths (cutaneous nodules) may appear on the skin. About 90 percent of patients develop tumors in the retina of the eyes (astrocytic hamartomas) or tumor-like nodules in the brain as well as the skin and eyes (phakomas). Delayed speech, slow motor development, and learning disabilities may be associated with Tuberous Sclerosis. Typical behavior patterns include symptoms resembling childhood autism; episodes of screaming, crying, or rage; and catatonic rigidity. Causes Tuberous Sclerosis is believed to be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. The gene that causes this disorder has been located to the long arm of chromosome 9. When patients are affected less severely, the cause is thought to be an unusual, spontaneous genetic change or mutation that is not inherited. Affected Population Tuberous Sclerosis occurs in approximately 1 in 20,000 live births and affects an estimated 10,000 individuals in the United States. Males and females are affected equally. Related Disorders Symptoms of the following disorders can be similar to those of Tuberous Sclerosis. Comparisons may be useful for a differential diagnosis: Sturge-Walker Syndrome is a rare disorder that is apparent at birth. This disorder is characterized by three major symptoms; excessive blood vessel growth within the membranes that surround the spinal cord (leptomenigal angiomas); seizures; and accumulation of excessive calcium within the brain. Generally there is a large birth mark (port wine stain or nevus flammeus) on one side of the face. The seizures that are common with this disorder generally increase in frequency as the patient gets older. Over half of the children with Sturge-Walker Syndrome experience some degree of mental retardation. (For more information on this disorder, choose "Sturge-Walker" as your search term in the Rare Disease Database). Hypomelanosis of Ito is a rare disorder that is characterized by an unusual lack of skin color (hypopigmentation) affecting many areas of the body. Other symptoms may include mental retardation, seizures, inability to sweat in the areas that lack pigmentation, crossed eyes (strabismus), nearsightedness and a cleft along the edge of the eyeball (coloboma). (For more information on this disorder, choose "Hypomelanosis of Ito" as your search term in the Rare Disease Database). Epidermal Nevus Syndrome is a rare disorder characterized by distinctive birth marks (nevus) on the skin. Neurological and skeletal abnormalities may also occur. This disorder is usually apparent at birth and the skin lesions are most often seen in the mid-face from the forehead down into the nasal area. Epidermal Nevus Syndrome is often associated with seizures, mental deficiency, eye problems, bone malformations and atrophy of the brain. (For more information on this disorder, choose "Epidermal Nevus" as your search term in the Rare Disease Database). Therapies: Standard The treatment for Tuberous Sclerosis is supportive and symptomatic. Treatment may include the administration of anticonvulsant drugs to control seizures. Facial tumors (angiofibromas) may be removed using a skin scraping technique known as derabrasion or with laser treatments. Surgery may become necessary for certain rapidly growing tumors that might interfere with normal function. Special education and related services will be helpful for those children who are mentally retarded. Conventional anticonvulsants that may be administered include phenobarbital, phenytoin (Dilantin), clonazepam (Clonopin), valproic acid (Depakene), carbamazepine (Tegretol), ethosuximide (Zarontin), or acetazolamide (Diamox). All these anticonvulsants have potential side effects and require careful monitoring by a physician. Certain immunizations, such as DPT and Rubella, can prompt seizures in children with Tuberous Sclerosis. "Infantile spasms" can be treated in some infants by the use of prednisone or ACTH (adrenocorticotropic hormone). These medications are used cautiously because of their side effects. The obstruction of cerebrospinal fluid (CSF) circulation inside the brain (intracranial hypertension) because of a benign tumor may require a shunting procedure to drain the liquid or the surgical removal of the tumor. A benign tumor inside the heart (rhabdomyoma) may not cause symptoms and not require treatment. Large cystic lesions of the kidneys may also require surgical decompression or removal, possibly leading to loss of a kidney. If large groups of enlarged blood vessels (angiolipomas) bleed in the lining of the abdominal cavity (peritoneum), emergency treatment for shock may be necessary. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational Investigations into the cause and possible treatments for Tuberous Sclerosis are ongoing. Blood and skin cells of Tuberous Sclerosis patients have been banked at the Camden Cell Repository in New Jersey and are available to researchers around the world. Scientists are trying to develop prenatal tests and diagnostic blood tests for Tuberous Sclerosis. This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tuberous Sclerosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Tuberous Sclerosis Association, Inc. 8000 Corporate Drive, #120 Landover, MD 20785 (301) 459-9888 (800) 225-NTSA NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information about seizures: Epilepsy Foundation of America 1828 "L" Street N.W. Washington, D.C. 20036 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1630, 2111. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1116-1118. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2144. CLINICAL DERMATOLOGY, 2nd Ed.; Thomas P. Habif, M.D., Editor: The C.V. Mosby Company, 1990. Pp. 654-655. DISORDERS OF HYPOPIGMENTATION IN CHILDREN, F.J. Pinto; Pediatr Clin North Am (August 1991; 38(3)): Pp. 991-1017. NEUROCUTANEOUS SYNDROMES, E.S. Roach; Pediatr Clin North Am (August 1992; 39(4)); Pp. 591-6202.91-6202. Tuberous Sclerosisa) d)pagetitle 35: Tuberous Sclerosis 04297.TXT !Copyright (C) 1986, 1987, 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 112: Turner Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Turner Syndrome) is not the name you expected. Please check the SYNONYM listing to find the synonyms, disorder subdivisions, and related disorders covered by this article. Synonyms Bonnevie-Ulrich syndrome Ovarian Dwarfism Ovary Dysgenesis Ovary Aplasia Genital Dwarfism Gonadal Dysgenesis (XO) Monosomy X Morgagni-Turner-Albright Syndrome Pterygolymphangiectasia Schereshevkii-Turner Syndrome Turner-Varny Syndrome XO syndrome Information on the following disorders can be found in the Related Disorders section of this report: Noonan Syndrome (in males) Pseudo Turner Syndrome (in males) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Turner syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possible mental retardation, a webbed neck, heart defects, and various other congenital abnormalities. Individuals have an XO karyotype, i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males. Despite the unusual genetic karyotype, people with Turner Syndrome are females. Symptoms Individuals with Turner syndrome have female characteristics, but they do not develop secondary sexual characteristics because they have immature or "streak" ovaries and cannot produce estrogen (a female hormone). No puberty occurs, and sexual traits such as breasts or pubic and axillary hair fail to develop. Growth is slowed and the individual remains unusually short, often under 5 feet tall at adulthood. Intelligence is only rarely impaired. There may be behavioral difficulties, but it is not known whether these are consequences of living with this disorder or neurological manifestations. Congenital abnormalities of the skeleton, heart, and urinary tract can occur. The neck is webbed and the chest may be broad or protruding. The jaw may have an unusual shape, and the palate may be arched. Typical heart defects may include coarctation of the aorta and other anomalies of the left side of the heart. Urinary tract abnormalities may include a horseshoe shaped kidney and double ureters. Cells of individuals with Turner syndrome usually have only 45 chromosomes (rather than the normal 46), lacking a sex chromosome as described above. Occasionally, the defect is found only in one cell line (mosaicism), or the chromosome is present but defective. Causes Turner Syndrome is a genetic disorder caused by an absence or defect of the sex chromosome. Karyotype (chromosomal constitution of the nucleus of a cell) is XO in 80% of the cases, lacking one of the sex chromosomes. In 20% of the cases, sex chromatin is positive for various chromosomal abnormalities such as XX (one chromosome is abnormal) or XO (one chromosome is absent), or other abnormal chromosome combinations. Affected Population Turner Syndrome affects only females. In the United States, the number of persons with this disorder is approximately 45,000. Related Disorders Noonan Syndrome is a genetic disorder that can affect both males and females. The disorder is characterized by a lack of sexual development, short stature, mental retardation, a webbed neck, skeletal and/or heart defects, and various other abnormalities. Persons with Noonan Syndrome usually have normal chromosomes (karyotype is normal), while their physical appearance (phenotype) is different from their peers. (For more information on this disorder, choose, "Noonan" as your search term in the Rare Disease Database.) Therapies: Standard There is no cure for Turner Syndrome, but certain measures can allow a more normal life in affected persons. To increase stature (i.e., for normal linear growth and maturation of the bones), estradiol therapy started early in life has been found useful. Genetically engineered growth hormone has proven helpful in many cases. At puberty, replacement therapy with estrogen may begin. This allows almost normal development of breasts, labia, vagina, uterus and fallopian tubes, although patients remain unable to conceive children. Patients who are mosaics (i.e., only some of whose cells have abnormal sex chromosomes) appear to be susceptible to gonadal tumors. Such patients, who are likely to have evidence of virilization, may have "streak gonads" which are undeveloped gonads in the ligaments of the abdominal cavity. These should be removed. Therapies: Investigational The National Institutes of Health requests the cooperation of physicians in referring patients with Turner Syndrome, age 4 to 12 years. Patients will be offered enrollment in a long-term treatment protocol to assess the effect of low-dose estrogen treatment and growth hormone treatment on adult height. Low-dose estrogen is intended to help stimulate gradual development of secondary sexual characteristics without compromising growth potential Referring physicians will receive a complete summary of all evaluations, and patients will continue to be followed in conjunction with their referring physicians. Please write or telephone: Dr. Gordon B. Cutler Jr. National Institutes of Health 9000 Rockville Pike Bldg. 10, Rm. 10N260 Bethesda, MD 20892 (301) 496-4686 or Dr. Judith Levine Ross Hahnemann University Mail Stop 402 Broad & Vine Streets Philadelphia, PA 19102 (215) 448-7710 Ethinyl Estradiol product EE which is manufactured by Gynex increases secondary sexual characteristics in Turner's patients without causing bone growth problems. Further studies are necessary to determine the long-term safety and effectiveness of this product. Oxandrolone (Oxandrin) is an experimental drug being tested on girls with Turner Syndrome to increase their growth. This drug has several advantages over human growth hormone (hGH) because (1) Oxandrin is an oral drug whereas hGH is an injection (2) hGH costs $10,000 to $30,000 per year whereas Oxadrin is expected to cost less than $2,000 per year. Oxandrin is available from Gynex Pharmaceuticals under a "Treatment IND" which is special permission from the FDA to distribute an investigational drug to a large number of people who are not in a clinical trial. This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Turner Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Turner's Syndrome Support Group of New England 170 Maple Street Malden, MA 02148 Turner's Syndrome Society of the United States 3539 Tonkawood Road Minnetonka, MN 55345 (612) 475-9944 Turner Syndrome Society Administrative Studies Bldg. 006 4700 Keel Street York University Downsview, Ontario, Canada M3J 1P3 .BR; (416) 736-5023 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 167-70, 1392. SMITH'S RECOGNIZABLE PATTERS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 75-9.p. 75-9. Turner Syndrome "pagetitle 112: Turner Syndrome 04298.TXT a Copyright (C) 1989, 1990 International Organization for Rare Disorders, Inc. 730: Typhoid _________________________ ** IMPORTANT ** It is possible that the main title of the article (Typhoid) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Typhoid Fever Salmonella Typhi Infection Enteric Fever Information on the following diseases can be found in the Related Disorders section of this report: Salmonella Botulism Ptomaine Poisoning Cholera General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Typhoid fever is a bacterial infection that is rare in the United States. However it is not rare in many other countries. Major symptoms may include unusually high fever, headache, loss of appetite, fatigue, abdominal pain and diarrhea. Symptoms Typhoid is an intestinal infection caused by the bacterium Salmonella typhi. Antibodies to the bacteria can be detected in the blood (Widal's test). Salmonella typhi can be cultured from the patient's blood, urine and feces as well. The infection incubates for one or two weeks. A gradual development of headache, loss of appetite, fatigue and constipation occurs. During the following weeks there is a gradual rise in temperature to about 104 F, abdominal pain, a slowed pulse rate, nosebleeds, rose-colored spots on the chest and diarrhea. Intestinal ulceration and bleeding can lead to anemia and peritonitis. These conditions may be fatal if the patient is left untreated. Heart failure may also occur. Even after a complete recovery from Typhoid fever the patient may remain a carrier of the bacteria for a number of weeks, months or even years. Those who have had Typhoid should be very careful of personal hygiene and avoid handling food that other people eat until the bacteria is no longer present in the patient's feces. Causes Typhoid is caused by the bacterium Salmonella Typhi. It is the most serious of the Salmonella infections. Contaminated food or water is most often the source of a Typhoid outbreak. Contact with a carrier of the bacterium, polluted water, infected food or milk, shellfish harvested from polluted water, or fresh vegetables grown in contaminated soil are all sources of the Salmonella Typhi bacterium. People who have had Typhoid are "carriers" until the bacteria is completely gone from their body. If they touch food served to other people when their hands are not properly washed, they can spread Typhoid to those who eat the food. Affected Population Typhoid affects males and females in equal numbers. In the United States there are only about 500 cases of Typhoid diagnosed each year, and over 62% of these are contracted in other countries. The major sources of cases in the United States between the years 1975-1984 were Mexico (39%) and India (14%). In Mexico, Latin America, Asia, Africa and the Middle East where the fatality rate is as high as 10% each year, Typhoid is still a serious health problem. In the U.S., outbreaks are usually traced to a Typhoid carrier in the food handling business (e.g. restaurants, hotels, etc.). Related Disorders Symptoms of the following disorders can be similar to those of Typhoid fever. Comparisons may be useful for a differential diagnosis: Salmonella poisoning is a form of gastroenteritis. It is the most common cause of outbreaks of foodborne disease in the United States. This bacteria may infect meat, dairy and vegetable products. Outbreaks are most common in warm weather and in children under the age of seven. Nausea, vomiting, and chills are the most common initial symptoms. These are followed by abdominal pain, diarrhea and fever which may last from five days to several weeks. The CDC estimates that there are approximately 2 to 4 million Salmonellosis cases in the United States each year. Botulism is a form of gastroenteritis caused by a bacterial toxin. This toxin is a neuromuscular poison. It occurs in three forms: foodborne, wound, and infantile botulism. The most common form is foodborne. The patient may experience weakness, fatigue, headache, and dizziness as well as nausea, vomiting, diarrhea and abdominal pain. (For more information on this disorder, choose "Botulism" as your search term in the Rare Disease Database). Ptomaine Poisoning is the fourth most common cause of bacterial foodborne disease in the United States. It is caused by a protein enterotoxin that is produced after eating infected food, usually meat products. The disease is characterized by severe abdominal cramps and diarrhea. Nausea often occurs as well. However, vomiting and fever are rare. Cholera is a bacterial infection involving the entire small intestine and marked by severe diarrhea and vomiting. Symptoms are caused by a toxin released by the Vibrio cholerae bacteria. Drinking water, or eating seafood, vegetables, and other foods contaminated with the excrement of Cholera patients spreads the disease. (For more information on this disorder, choose "Cholera" as your search term in the Rare Disease Database). Therapies: Standard Typhoid is treated with the antibiotic drugs chloramphenicol, ampicillin, cefoperazone, pefloxacin, co-trimoxazole or trimethoprim-sulfamethoxazole. Precautions to take, especially when visiting countries with unsanitary conditions, includes the practice of good personal hygiene and careful washing of hands. Avoid drinking untreated water, drinks served with ice, unpeeled fruits and vegetables, and other food that is cooked and not served hot. In food preparation; wash and sanitize utensils in hot water; carefully clean cutting boards, work areas and equipment; keep hot foods at 165 F and cold foods at 40 F or colder to avoid the possible growth of bacteria in food. Typhoid vaccination and food precautions are necessary before traveling to developing countries where this kind of disease is prevalent. Therapies: Investigational Scientists are investigating vaccines that will hopefully provide the traveler full protection against Typhoid without severe side-effects. This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Typhoid, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Center for Disease Control (CDC) 1600 Clifton Road Atlanta, GA 30333 404-329-3534 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1664-1691, 1696. SALMONELLA TYPHI INFECTIONS IN THE UNITED STATES, 1975-1984: INCREASING ROLE OF FOREIGN TRAVEL , C.A. Ryan, et al.; Rev Infect Dis (January-February, 1989, issue 11 (1)). Pp. 1-8. CEFOPERAZONE COMPARED WITH CHLORAMPHENICOL IN THE TREATMENT OF TYPHOID FEVER. F. Paradisi, Chemotherapy (1988, issue 34 (1)). Pp. 71-76. CLINICAL EXPERIENCE WITH PEFLOXACIN IN THE THERAPY OF TYPHOID FEVER. P. Chistiano, et al.; Infection (March-April, 1989, issue 17 (2)). Pp. 86-67. ASSESSMENT ON ANTIMICROBIAL TREATMENT OF ACUTE TYPHOID AND PARATYPHOID FEVERS IN BRITAIN AND THE NETHERLANDS 1971-1980. R.J. Fallon, et al.; J Infect (March, 1988, issue 16 (2)). Pp. 129-134. MARY MALLON'S TRAIL OF TYPHOID, C. Cary, FDA Consumer, (June, 1989), Pp. 18-21. (See article in Prevalent Disorders section of NORD Services). Typhoid eric{! ~!pagetitle 730: Typhoid 04267.TXT @4<4Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 570: Thrombocytopenia, Essential _________________________ ** IMPORTANT ** It is possible that the main title of the article (Essential Thrombocytopenia) is not the name you expected. Please check the disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS Idiopathic Thrombocytopenic Purpura (ITP) (Werlhof's Disease) Purpura Hemorrhagica Thrombotic Thrombocytopenic Purpura (TTP) (Moschowitz Disease) Hemolytic-Uremic Syndrome (HUS) Information on the following diseases can be found in the Related Disorders section of this report: Thrombocytopenia with Absent Radius Syndrome (TAR) Fanconi's Anemia von Willebrand Disease May-Hegglin Anomaly Chediak-Higashi Syndrome Kassaback-Merritt Syndrome Hemophilia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Essential Thrombocytopenia is a rare blood disease affecting the clotting factor (platelets) of the blood. It is characterized by an abnormally low platelet count and a shorter than normal (ten days) platelet survival time. Major symptoms include a tendency to bleed excessively into the skin or mucous membranes, and especially during menstruation. There are many different reasons for the development of decreased marrow production or platelet destruction that causes this disorder. These can sometimes be determined by examination of bone marrow. Other forms of Thrombocytopenia may be associated with hereditary factors. Symptoms The major symptom of Essential Thrombocytopenia is excessive bleeding. In the mildest cases, flat red spots (petechiae) that are pinpoint in size are noticed, usually around the feet and ankles. With more serious disease the spots are larger and more widespread. There is a tendency toward sudden nosebleeds and easy bruising. In severe cases, bleeding (hemorrhages) under the skin (purpura) may involve the skin surface, the eyes and mucous membranes of the mouth. In the most serious cases, intracranial hemorrhage may occur. As a result of uncontrolled excessive bleeding, anemia may develop producing weakness, fatigue and signs of congestive heart failure. Causes There are three major causes of Thrombocytopenia: Firstly, a decrease in marrow platelet production may occur as a result of viral infections, drug toxicity (such as drug hypersensitivity), generalized bone marrow disease, malignant disease, systemic infections or aplastic anemia. Secondly, immune Thrombocytopenia which may develop due to autoimmune destruction of blood platelets when the patients own blood production system attacks itself as if it were a foreign body. Autoimmune disorders are caused when the body's natural defenses against invading organisms (antibodies) begin to attack healthy tissue. Some cases may be linked to abnormal reactions by blood cells (serum antibodies) to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal or thyroid cells. Idiopathic (cause unknown) thrombocytopenic purpura occurs in children and adults. Sometimes the disease is caused by a condition introduced into the patients body from the outside (alloimmune), such as neonatal purpura and posttransfusion purpura. Drug-induced immune thrombocytopenia can result from the use of many drugs, e.g., thiazide diuretics, quinine, quinidine, chlorothiazide, hydrocortisone, prednisone, cyclophosphamide, azathioprine, vincristine, indomethacin, phenylbutazone, tricyclic antidepressants, antihistamines, phenothiazines or aspirin. Thrombotic thrombocytopenic purpura (TTP) can be caused by other blood diseases such as Hemolytic-uremic syndrome (HUD) and Disseminated intravascular coagulation. Finally, Thrombocytopenia can be due to enlargement of the spleen (splenomegaly) and increased destruction of platelets by the spleen (sequestration). Affected Population Thrombocytopenia affects males and females in equal numbers. Idiopathic Thrombocytopenic Purpura (ITP) affects an estimated 100,000-150,000 individuals per year, including ten percent of people affected with HIV. Related Disorders Symptoms of the following disorders can be similar to those of Thrombocytopenia. Comparisons may be useful for a differential diagnosis: May-Hegglin Anomaly is a hereditary blood condition which consists of abnormalities of the platelets and certain leukocytes (white blood cells). Symptoms may or may not be present. Treatment is often not necessary, and the prognosis is usually good. Symptoms include purpura, nosebleeds, excessive bleeding from the mouth during dental work, headaches and muscular weakness on one side of the body due to intracranial bleeding. (For more information on this disorder, choose "May-Hegglin" as your search term in the Rare Disease Database). von Willebrand Disease is a hereditary blood clotting disorder characterized by prolonged bleeding. Blood clotting is slowed due to a deficiency of the von Willebrand factor protein and factor VIII protein (the factor VIII complex). Also, platelets do not stick together normally causing excessively slow clotting time. Increased risk of excessive bleeding following surgery, dental procedures or injury occurs in patients with this disorder. With proper treatment and appropriate precautions, few patients become seriously handicapped by von Willebrand Disease. The tendency to prolonged bleeding usually decreases with age. (For more information on this disorder, choose "von Willebrand" as your search term in the Rare Disease Database). Fanconi's Anemia is a rare form of familial aplastic anemia found chiefly in children. It is characterized by bone abnormalities, microcephaly, hypongenitalism and brown pigmentation of the skin. Complications include infections such as pneumonia and meningitis, hemorrhages, and leukemia. Other malignancies also may occur. It is first recognized by the tendency of the patient to bruise more easily than would normally be expected. It is more common in males and is usually detected within the first eight years of life. Growth may be slowed or stunted. (For more information on this disorder, choose "Fanconi" as your search term in the Rare Disease Database). Chediak-Higashi Syndrome is a rare form of albinism characterized by decreased pigmentation, ocular problems, white blood cell abnormalities and increased susceptibility to infections and certain cancers. It is usually diagnosed in early infancy because of the partial albinism, (lack of pigment in the eyes, hair, and skin). White blood cells are reduced in number; neutrophils as well as lymphocytes are affected. Defects and deficiencies of these cells, which normally provide defense against foreign organisms such as bacteria, result in frequent infections accompanied by high fever. Thrombocytes, or platelets, are also reduced in number resulting in a tendency to bleed excessively upon injury and to bruise easily. (For more information on this disorder, choose "Chediak-Higashi" as your search term in the Rare Disease Database). Kasabach-Merritt Syndrome causes some patients to have eye and skin hemorrhages. Often large tumors appear containing blood (hemangioma) at various sites on the body, and features of thrombocytopenic purpura appear in the skin. (For more information on this disorder, choose "Kasabach-Merritt" as your search term in the Rare Disease Database). Hemophilia is a hereditary blood clotting disorder which affects males almost exclusively. Hemophilia is caused by the inactivity of one of the blood proteins necessary (Factor VIII) for clotting, and can be classified by its level of severity; mild, moderate, and severe. Severity is determined by the percentage of active clotting factor in the blood. Persons with severe hemophilia have less than 1% of the normal levels of active clotting factor present in their blood. The general term hemophilia includes Hemophilia A (Classical Hemophilia, Factor VIII deficiency), and Hemophilia B (Christmas Disease, Factor IX deficiency). von Willebrand's Disease (which affects both males and females) and other rare clotting disorders may have similar symptoms but are not usually termed hemophilia. Hemophilia is a sex-linked genetic disorder. (For more information on this disorder, choose "Hemophilia" as your search term in the Rare Disease Database). Patients with Thrombocytopenia-Absent Radius (TAR) Syndrome, usually have evidence of the blood disorder in the first few months of life along with congenital absence of the shorter of the two bones in the forearm (radius). Congenital heart disease and kidney problems may occur in some cases. There is evidence of autosomal recessive inheritance in TAR syndrome. (For more information on this disorder, choose "TAR" as your search term in the Rare Disease Database.) Therapies: Standard Thrombocytopenia is treated by transfusions of normal platelets to control bleeding. When platelet dysfunction is associated with an acquired disorder, successful treatment of the underlying disease often results in improved platelet function. Drugs known to inhibit platelet function, such as those containing aspirin and anti-inflammatory agents, should be avoided. Intravenous (IV) immune globulin may be given to increase platelet production. In rare cases Thrombocytopenia may necessitate the removal of the spleen (splenectomy). Therapies: Investigational Abnormalities of platelet function in Thrombocytopenia are being treated experimentally with plasmapheresis. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Thrombocytopenia. Additionally, the orphan drug anagrelide is also being tested as a treatment for this disorder. For more information about anagrelide physicians can contact: Roberts Pharmaceutical Corp. Meridian Center III 6 Industrial Way West Eatontown, NH 07724 (908) 389-1182 Irradiation of the spleen using low dose radiation is showing short term improvement in the platelet count of some patients with ITP. More investigation of this treatment is necessary to determine the long-term safety and effectiveness of this protocol. A new anti-Rh immune globulin WinRho SD, is being developed by Univax Biologics for treatment of people with Idiopathic Thrombocytopenic Purpura. This drug may reduce platelet counts, reducing the risk of bleeding in people with ITP. WinRho SD is being tested on approximately 300 people with this disorder. This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Essential Thrombocytopenia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Blood, & Lung Institute (NHBLI) Office of Public Inquiries 9000 Rockville Pike Bethesda, MD 20892 The following organization will answer questions only about TAR Syndrome. It does not provide information about other forms of Thrombocytopenia: Thrombocytopenia Absent Radius Syndrome Assoc. (TARSA) 321 Sherwood Drive R.D. 1 Linwood, NJ 08221 (609) 927-0418 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1001-1008. SUCCESSFUL INTRAVENOUS IMMUNE GLOBULIN THERAPY FOR HUMAN IMMUNODEFICENCY VIRUS-ASSOCIATED THROMBOCYTOPENIA. A.N Pollak, et al.; Arch Intern Med (March, 1988, issue 148 (3)). Pp. 695-697. SPLENECTOMY FOR THROMBOCYTOPENIA DUE TO SECONDARY HYPERSPLENISM. W.W. Coon, Arch Surg (March, 1988, issue 148 (3)). Pp. 369-371. SUCCESSFUL CONSERVATIVE MANAGEMENT OF THROMBOCYTOPENIA IN ADULT HEMOPHILIACS. J.C. Goldsmith, et al.; Transfusion (January and February, 1988, issue 28 (1)). Pp. 68-69. Thrombocytopenia, Essential ine O5 R5pagetitle 570: Thrombocytopenia, Essential 04268.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 657: Thrombocytopenia-Absent Radius Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Thrombocytopenia-Absent Radius Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms TAR Syndrome Thrombocytopenia-Absent Radii Syndrome Radial Aplasia-Thrombocytopenia Syndrome Radial Aplasia-Amegakaryocytic Thrombocytopenia Syndrome Information on the following disease can be found in the Related Disorders section of this report: Fanconi's Anemia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Thrombocytopenia-Absent Radius (TAR) Syndrome is a genetic disorder characterized by a very low level of the number of blood platelets (thrombocytopenia) and the absence or underdevelopment of one of the short bones (radius) in the arm. Symptoms The very low level of the number of blood platelets (thrombocytopenia) is most severe during early infancy of TAR Syndrome patients. Thrombocytopenia may cause excessive bleeding from the skin, mucous membranes (thin moist layer lining the body's cavity), or within the skull (intracranial). Other blood disorders may also occur: absent or underdeveloped blood platelet precursors (megakaryocytes); a high number of a type of white blood cells (eosinophilia); leukemia-like levels of the number of white blood cells (granulocytosis); and (anemia). TAR infants are more likely to develop an intolerance to cow milk. One of the two short bones (the radius) of the arm is absent or underdeveloped and it usually involves both arms. It may be associated with the underdevelopment of the other short bone (the ulna) of the arm and defects of the hands, legs, and/or feet. Short stature, bowed legs, shortened long bone of the arm (humerus), underdeveloped shoulder girdle (several bones that support the arms), and dislocation of the hip may also be present. Kidney or heart defects, a purplish birthmark (nevus flammeus) on the forehead, and spina bifida (incomplete closure of vertebrae in the spinal column) may also be present. Causes TAR Syndrome is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Affected Population TAR Syndrome is a rare disorder that occurs at birth. It affects males and females in equal numbers. Related Disorders Symptoms of the following disorder can be similar to those of Thrombocytopenia-Absent Radius (TAR) Syndrome. Comparisons may be useful for a differential diagnosis: Fanconi's Anemia is a rare hereditary disorder characterized by anemia due to defective functioning of the blood-forming organs, bone abnormalities, unusually small head, retarded growth and development of the genitalia, and brown pigmentation. Excessive bleeding, infections, and leukemia may also occur. This disorder is more common in males and is usually detected within the first eight years of life. (For more information on this disorder, choose "Fanconi" as your search term in the Rare Disease Database). Therapies: Standard Early management is necessary for the various blood conditions of TAR Syndrome patients. Braces and/or surgery may be necessary for bone malformations related to this disorder. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Thrombocytopenia-Absent Radius Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Thrombocytopenia Absent Radius Syndrome Association (TARSA) 312 Sherwood Drive R.D. 1 Linwood, NJ 08221 (609) 927-0418 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1207-1208. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1008. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones; W.B. Saunders Company, 1988. Pp. 276, 984. THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME: A.G. Aledo, et al.; An Esp Pediatr (January, 1982: issue 16(1)). Pp. 82-87. Thrombocytopenia-Absent Radius Syndrome pagetitle 657: Thrombocytopenia-Absent Radius Syndrome 04269.TXT Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc. 637: Tietze Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of this article (Tietze Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Chondropathia Tuberosa Costochondral Junction Syndrome Information on the following conditions can be found in the Related Disorders section of this report: Spinal Root Pain Chest Wall Syndrome Costal Chondritis (Costochondritis) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Tietze Syndrome is characterized by pain in the chest wall and a firm, spindle-shaped swelling in the cartilage of one or more of the upper ribs. Symptoms Tietze Syndrome is characterized by mild to severe localized pain and tenderness in one or more of the upper four ribs. A firm, spindle-shaped swelling occurs in the cartilage of these ribs. An aching, gripping, sharp, dull, or neuralgic pain occurs in this area. The pain usually subsides after several weeks or months, but the swelling may persist. Causes The exact cause of Tietze Syndrome is not known. Affected Population Tietze Syndrome usually affects older children and young adults. Males and females are affected in equal numbers. Related Disorders Symptoms of the following conditions can resemble those of Tietze Syndrome. Comparisons may be useful for a differential diagnosis: Spinal Root lesions or compression can cause chest pain in the form of a deep, boring, aching discomfort, or a sharp sudden and piercing pain. This pain usually occurs after sudden movement of the body, such as sneezing, coughing, laughing or straining. Chest Wall Pain is a term given to several conditions characterized by anterior chest pain. A dull, aching pain occurs which varies in response to strain, inflammation, malposition or infiltration of muscles, ligaments, cartilage, or bones in the chest wall. Irritation of a nerve root from the neck or upper spine, or a fractured rib, can also cause chest wall pain. Treatment is aimed at the underlying cause of the pain. Tietze Syndrome is part of this group of painful conditions. Costal Chondritis or Costochondritis is the inflammation of the cartilage part of the rib. It may affect one or more rib (costal) cartilages. It is characterized by pain of the chest wall which may radiate. The local swelling that is typical of Tietze Syndrome is absent in Costal Chondritis. Therapies: Standard Treatment for Tietze Syndrome consists of rest, local heat, and pain medication. Usually the pain subsides after several weeks or months, but the palpable swellings may persist for some time. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tietze Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References CLINICAL EXPERIENCE OF DRUG TREATMENTS FOR MASTALGIA: J.K. Pye, et al.; Lancet (August 17, 1985: issue 2(8451)). Pp. 373-377. MUSCULOSKELETAL CHEST WALL PAIN: A.G. Fam, et al.; Canadian Med Assoc Journal (September 1, 1985: issue 133(5)). Pp. 379-389. INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al, eds; Little, Brown, 1987. P. 610. Tietze Syndrome pagetitle 637: Tietze Syndrome 04270.TXT Copyright (C) 1986, 1993 National Organization for Rare Disorders, Inc. 210: Tinnitus _________________________ ** IMPORTANT ** It is possible that the main title of this article (Tinnitus) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Information on the following disorder can be found in the Related Disorders Section of this report. Bruit General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tinnitus is the perception of sound such as a ringing in the ears, in the absence of an acoustic stimulus. The disorder may be caused by a variety of ear problems including obstruction, infections, Meniere's disease, certain medications and head injuries. Symptoms A patient afflicted with Tinnitus may hear buzzing, ringing, roaring, whistling, or hissing sound without any external acoustic stimuli present. Sometimes the disorder may involve more complex sounds which vary over time. Symptoms of Tinnitus may be intermittent or continuous. An associated hearing loss is often present when symptoms occur, and can become permanent in severe cases. Causes Tinnitus may occur as a symptom of many disorders of the ear. It may be due to an obstruction of the external auditory canal due to ear wax and foreign bodies, infections (i.e., external otitis, myringitis, otitis media, labyrinthitis, petrositis, syphilis, and meningitis), eustachian tube obstruction, otosclerosis, Meniere's disease, arachnoiditis, and cerebellopontine angle tumors. The side effects of medications such as aspirin, quinine and its synthetic analogs, aminoglycoside antibiotics, and certain diuretics may also result in tinnitus. Carbon monoxide, heavy metals, alcohol, etc., cardiovascular diseases (i.e., hypertension, arteriosclerosis), anemia, and hypothyroidism may also cause tinnitus. Hereditary sensorineural hearing loss, noise-induced hearing loss, acoustic trauma (blast injury), or head injuries may also produce these symptoms. Related Disorders Bruit is a noise which may be heard by the examiner and sometimes by the patient; e.g., noise from rapid blood flow in a blood vessel. In some mental illnesses such as schizophrenia, a patient may hear imaginary sounds (hallucinations). Therapies: Standard If the tinnitus occurs as the result of an underlying disease, treatment of the primary disorder may improve the tinnitus. Some patients may obtain some relief from using a tinnitus masker, a device worn like a hearing aid that presents a noise more pleasant than that associated with Tinnitus. However, there is no medical procedure or drug at this time which can alter the unpredictable course of tinnitus when it is not associated with a treatable primary disease process. Therapies: Investigational A surgical procedure using microsurgical techniques is often suggested in the most severe cases of Tinnitus. The surgery seeks to relieve pressure on the hearing part of the eighth cranial nerve. For more information on this type of surgery, physycians may contact her at: Dr. Margareta Moller Presbyterian University Hospital, Rm. F948 230 Lothrup St. Pittsburgh, PA 15213 (412) 647-0444 This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tinnitus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Tinnitus Association P.O. Box 5 Portland, OR 97207 (503) 248-9985 NIH/National Institute of Deafness & Other Communication Disorders (NIDCD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 References THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 2172 Tinnitus pagetitle 210: Tinnitus 04271.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 399: Tolosa-Hunt Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Tolosa-Hunt Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Ophthalmoplegia, Painful Ophthalmoplegia Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Orbital Cellulitis Cavernous Sinus Thrombosis Ophthalmoplegia Migraine Headache General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tolosa-Hunt Syndrome is characterized by severe headaches often preceding painful eye muscle paralysis (ophthalmoplegia). Symptoms usually affect only one side of the head. Double vision, fever, vague feelings of discomfort, nausea and vomiting (which are symptoms often associated with migraine headaches) may also occur. With treatment, pain may subside in twenty-four to seventy-two hours. In untreated cases, acute attacks may ease within fifteen to twenty days. Symptoms The major symptoms of Tolosa-Hunt Syndrome include chronic headaches, mild fever and vision impairment followed by painful eye muscle paralysis. Swelling, protrusion of the eye, drooping eyelid, diminished vision and abnormal skin sensations around the eye may be associated with the paralysis. These symptoms usually occur on only one side of the head. Additionally, symptoms often associated with migraine headaches such as double vision, nausea, vomiting and a general feeling of discomfort may develop. Symptoms of Tolosa-Hunt Syndrome can recur spontaneously several times even after treatment in some cases. Causes Tolosa-Hunt Syndrome is thought to be caused by an abnormal autoimmune response linked with an inflammation in the area behind the eyes (cavernous sinus and superior orbital fissure). Autoimmune disorders are caused when the body's natural defenses against begin to attack healthy tissue for unknown reasons. Other possible causes include generalized inflammation and constricted or inflamed cranial blood vessels. Affected Population Tolosa-Hunt Syndrome occurs in males and females in equal numbers. Average age of onset is forty-one years of age although it may occur at any age. Related Disorders Symptoms of the following disorders can be similar to Tolosa-Hunt Syndrome. Orbital Cellulitis is characterized by inflammation of the tissues surrounding the cavity which holds the eyeball. Symptoms include extreme pain, impaired eye movement, swelling, fever and a general feeling of discomfort. Possible complications may include impaired vision, vein abnormalities and spread of the inflammation to the entire eye area, brain or the membranes surrounding the brain. Cavernous Sinus Thrombosis is an ophthalmologic disorder usually caused by infection and clotting in veins behind the eyeballs. It can be a complication of Orbital Cellulitis or infections of facial skin. Swelling and protrusion of the eye, fever, headache and possibly convulsions are symptoms of this disorder. Prompt treatment with antibiotics, intravenous fluids and bed rest is recommended. Migraine Headaches usually involve one side of the head like the Tolosa-Hunt Syndrome. Individuals who suffer from these intense headaches may have a genetic predisposition to them. Often associated with these painful attacks are irritability, nausea, vomiting, constipation or diarrhea, and sensitivity to light. Medical researchers believe constriction of the cranial arteries may precede migraine headaches in some cases. Fever and eye muscle paralysis are not symptomatic of migraine headaches and should alert physicians to the possibility of Tolosa-Hunt Syndrome. The following disorder may be associated with Tolosa-Hunt Syndrome as a secondary characteristic. This is not necessary for a differential diagnosis: Ophthalmoplegia is a symptom of Tolosa-Hunt Syndrome. It is defined as paralysis of the eye muscles. The eye itself is unable to move or look in various directions. Swelling, diminished clear vision, drooping eyelids, unusual skin sensations in the area around the eye or protrusion of the eyeball may be associated with the paralysis. This condition may accompany a variety of other disorders. Symptoms can range from mild to severe. Therapies: Standard The pain associated with Tolosa-Hunt Syndrome may improve with short term use of steroid drugs in many cases. Pain usually subsides in untreated cases within fifteen to twenty days. With drug treatment, pain may subside within twenty-four to seventy-two hours although attacks may recur at any time in the future. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tolosa-Hunt syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Migraine Foundation 5252 North Western Avenue Chicago, IL 60625 (312) 878-7715 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References STEROID RESPONSIVE OPHTHALMOPLEGIA IN A CHILD. DIAGNOSTIC CONSIDERATIONS: R.S. Kandt, et al.; Arch Neurol (June 1985, issue 42(6)). Pp. 589-591. TRANSIENT UNILATERAL OCULOMOTOR PARALYSIS: E. Kattner, et. al.; Monatsschr Kinderheilkd (March 1985, issue 133(3)). Pp. 175-177. A NEW ETIOLOGY FOR VISUAL IMPAIRMENT AND CHRONIC HEADACHE. THE TOLOSA- HUNT SYNDROME MAY BE ONLY ONE MANIFESTATION OF VENOUS VASCULITIS: J. Hannerz, et al.; Cephalalgia (March 1986, issue 6(1)). Pp. 59-63. Tolosa-Hunt Syndrome pagetitle 399: Tolosa-Hunt Syndrome 04272.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 340: Tongue Carcinoma _________________________ ** IMPORTANT ** It is possible the main title of the article (Tongue Carcinoma) may not be the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cancer of the Tongue Carcinoma of the Tongue General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tongue Carcinoma is an oral cancer which is characterized by an ulcerating malignant tumor, usually on the side of the tongue, consisting of scaly (squamous) cells. The tumor may spread to the lymph nodes on the same side of the neck. Symptoms In Tongue Cancer local pain may occur, possibly later radiating to the entire side of the face. The most common sign of cancer in the mouth is a sore that fails to heal and that bleeds rather easily. There may be restricted movement of the tongue or discomfort in wearing dentures. Swelling of the lymph nodes on the same side of the neck may occur in about half the patients if the tumor spreads. Causes The cause of Tongue Carcinoma is unknown. Inadequate oral hygiene and thickened white patches on the mucous membranes of the oral cavity (leukoplakia) may be a cause. The disorder is statistically linked with alcoholism, cirrhosis of the liver, excessive smoking, or syphilis. Irritation by jagged teeth, projecting fillings and ill-fitting dentures may also be factors contributing to development of Tongue Carcinoma. As in some other types of cancer, the possibility of a genetic predisposition to malignancy may also be a factor. Affected Population Tongue Carcinoma is a rare form of cancer that tends to affect more men than women, usually between 40-60 years of age. During recent years, the proportion of women with this type of cancer has grown. The frequency of this disorder among the population tends to increase with age. All types of oral cancer combined strike about 27,000 persons in the United States each year. Related Disorders There are many types of mouth cancer. All types are relatively rare. Carcinoma of the Floor of the Mouth is characterized by a hard growth that can be felt by the tip of the tongue. Pain in the ear, increased salivation, difficulty speaking and later bleeding, are signs of this disorder. This type of cancer may be caused by poor oral hygiene or irritation of the tissues by sharp teeth, ill-fitting dentures, smoking, etc. Frequently the lymph nodes in the neck are also affected. Carcinoma of the Cheek (Mouth, Buccal Mucosa, Carcinoma) is characterized by a malignant lesion in the cheek, pain, difficulty chewing, spasms in the cheek muscles (trismus) and mucosal bleeding. The carcinoma may spread to the lymph glands under the jaw. Therapies: Standard Surgery consisting of excision of tongue muscle and neck lymph nodes is used for treatment of Tongue Carcinoma, sometimes in combination with pre- or postoperative radiation. A special type of radiation can be applied by implanting needles containing radioactive elements to destroy the cancer in localized areas (interstitial irradiation). Chemotherapy may also be used as therapy. The survival rate of 5 years for this disorder is 28%. Early diagnosis and treatment is imperative, especially in persons under 20 years of age. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tongue Carcinoma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 303291 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. References WHAT YOU NEED TO KNOW ABOUT CANCER OF THE MOUTH: Reprinted: U.S. Department of Health and Human Services; Public Health Service; National Institutes of Health; National Cancer Institute. (March 1985.) CHANGING TRENDS IN THE MANAGEMENT OF SQUAMOUS CARCINOMA OF THE TONGUE: C. D. Callery, et al.; American Journal of Surgery (October 1984: issue 148,4). Pp. 449-454. SURGICAL TREATMENT OF EARLY-STAGE CARCINOMA OF THE ORAL TONGUE--WOULD WOUND ADJUVANT TREATMENT BE BENEFICIAL? Head and Neck Surgery (July-August 1986: issue 8,6). Pp. 401-408. Tongue Carcinoma pagetitle 340: Tongue Carcinoma 04273.TXT Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 334: Tongue, Fissured _________________________ ** IMPORTANT ** It is possible the main title of the article (Fissured Tongue) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disordered subdivisions covered by this article. Synonyms Furrowed Tongue Lingua Fissurata Lingua Plicata Lingua Scrotalis Plicated Tongue Scrotal Tongue General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fissured Tongue can be either a hereditary condition or it may be acquired. This disorder is characterized by irregular markings of the surface of the tongue. Symptoms Fissured Tongue is characterized by a division into lobules, convolutions, and ridges on the tongue that resemble the skin patterns of the scrotum. The markings on the back of the tongue are exaggerated, and knoblike projections (fungiform papillae) may be prominent. The grooves tend to radiate from the central depression of the tongue, resembling the ribs of a leaf. It is probably a secondary phenomenon, caused by the topography of the underlying muscle bundles. Pain in the tongue (glossodynia) sometimes occurs with this condition. Causes Fissured Tongue may occur in an acquired form or a hereditary form. In the hereditary form the disorder is transmitted as a probably autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) This type of Fissured Tongue may also be associated with other primary conditions such as Acromegaly, Down's Syndrome, or Geographic Tongue. (For more information on these disorders, choose "Acromegaly", "Down", and "Geographic Tongue" as your search terms in the Rare Disease Database.) When the disorder is acquired it may be caused by infections such as syphilis, scarlet fever, or typhoid fever. Affected Population Fissured Tongue can affect persons of both sexes, and all ethnic groups. Related Disorders Hairy Tongue is a disorder characterized by yellowish, brownish, blackish, or bluish discoloration of the tongue, with excessive growth of the threadlike elevations (filiform papillae) in front of the tastebuds. A bad taste in the mouth usually also occurs. Geographic Tongue is an inflammation of the tongue that may go into remission and recur again. This form of inflammation is characterized by migrating denuded smooth areas (excoriations) on the tongue which may feel slightly sore and sometimes itchy. (For more information on the above disorders, choose "Hairy Tongue" and "Geographic Tongue" as your search terms in the Rare Disease Database.) In Moeller's Glossitis, the tongue is slick, glossy, or glazed. The lesions are very distressing and persistent. Median Rhomboid Glossitis is a developmental lesion of the tongue. This lesion consists of a smooth, reddish, nodular area on the back portion of the middle third of the tongue. Severe Acute Glossitis can occasionally be caused by local infection, burns, or injury to the tongue. This type of Glossitis may develop rapidly, producing marked tenderness or pain with swelling. The swelling may be sufficient to cause the tongue to block air passages in the most severe cases. Therapies: Standard In Fissured Tongue, oral hygiene is very important to keep the ridges in the tongue free of foreign matter that might otherwise cause inflammation. The symptoms of Fissured Tongue may disappear spontaneously. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fissured Tongue, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 Clinical Smell and Taste Research Center University of Pennsylvania Hospital 3400 Spruce Street, G1 Philadelphia, PA 19104 (215) 662-2653 Department of Oral Biology Connecticut Chemosensory Clinical Research Center University of Connecticut Health Center Farmington, CT 06032 (203) 674-2459 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References NONPAINFUL, ERYTHEMATOUS, CIRCINATE LESIONS OF A PROTEAN NATURE ON A FISSURED TONGUE: R. W. Correll, et al.; Journal of the American Dental Association (July 1984, issue 109, 1). Pp. 90-91. GLOSSAL DOUBLE FISSURES IN PRE- AND POST-NATAL HUMAN SPECIMENS: A G. Farman; Journal of Oral Pathology (November 1977, issue 6,6). Pp. 387-395. Tongue, Fissured pagetitle 334: Tongue, Fissured 04274.TXT Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 332: Tongue, Geographic _________________________ ** IMPORTANT ** It is possible the main title of the article (Geographic Tongue) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms BMG Benign Migratory Glossitis Glossitis Areata Migrans Wandering Rash Tongue General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Geographic Tongue is an inflammation of the tongue (Glossitis) that may go into remission and recur again. This form of inflammation is characterized by irregular, migrating denuded smooth areas (excoriations) on the tongue which may feel slightly sore and sometimes itchy. Symptoms Geographic Tongue is an inflammation of the tongue characterized by irregularly shaped denuded smooth areas which are sometimes slightly sore and itchy. These areas usually occur on the margins and the tip of the tongue, and may appear in bow-shaped lines on the surface. The lesions sometimes advance forward while healing occurs toward the back of the tongue. This change in location also causes a change in configuration. The coalescence of the lesions into figures which look like a map has given this disorder the name of Geographic Tongue. Causes The exact cause of Geographic Tongue is unknown. Some scientists suspect that it may be caused by changes in the bacteria which are normally present in the mouth (oral flora). There are many other possible causes of Geographic Tongue. Local causes may include the following: 1. Infectious bacteria and viruses 2. Lesions from mechanical injury such as jagged teeth, ill-fitting dentures, poor oral habits, or repeated biting of the tongue during convulsive seizures 3. Substances such as alcohol in excessive amounts, tobacco, and hot or spicy foods in excessive amounts 4. The tongue may become oversensitized to toothpaste, mouthwashes, breath fresheners, candy dyes, and, rarely, plastic dentures or materials used in restoring teeth. Systemic causes may include: 1. Lack of vitamins (avitaminosis) particularly of the Vitamin B group 2. Other illnesses or conditions such as pellagra, pernicious anemia, iron deficiency anemia, certain generalized skin diseases such as lichen planus, erythema multiforme, aphthous lesions, Behcet's syndrome, pemphigus vulgaris, or syphilis may cause Geographic Tongue. For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: anemia, skin, lichen planus, erythema multiform, lesions, Behcet, pemphigus, and syphilis. Affected Population Onset of Geographic Tongue usually occurs in childhood. The disorder affects both males and females and may appear at any age. Related Disorders Persons with Anemia or Pellagra may also have a tongue with denuded smooth areas. Lesions are moderately painful. In Moeller's Glossitis, the tongue is slick, glossy, or glazed. The lesions are very distressing and persistent. Median Rhomboid Glossitis is a developmental lesion of the tongue. This lesion consists of a smooth, reddish, nodular area on the back portion of the middle third of the tongue. Hairy Tongue is characterized by yellowish, brownish, blackish or bluish discoloration of the tongue, usually caused by the absence of normal bacteria in the mouth. Excessive growth of the threadlike elevations (filiform papillae) in front of the taste buds also occurs. Severe Acute Glossitis can occasionally be caused by local infection, burns, or injury to the tongue. This type of Glossitis may develop rapidly, producing marked tenderness or pain with swelling. The swelling may be sufficient to cause the tongue to block air passages in the most severe cases. Burning Tongue (and/or Mouth) Syndrome causes patients to experience a burning sensation in the mouth and/or the tongue. There is no obvious clinical evidence of inflammation. Inflammation of the tongue may also occur in association with Candidiasis (Thrush), anemias, Diabetes Mellitus, latent nutritional deficiencies, or malignancies. For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: tongue, Hairy Tongue, Burning Mouth, Candidiasis, anemia, and Diabetes Mellitus. Therapies: Standard It is generally recommended that people with Geographic Tongue avoid irritants and substances which may sensitize the tongue. A bland or liquid diet, preferably cooled, is best. Meticulous oral hygiene is imperative, but care should be taken to preserve proper bacterial balance within the mouth. Local application of triamcinolone acetonide in emollient dental paste to specific lesions may relieve symptoms and promote healing. Therapies: Investigational This disease entry is based upon medical information available through March 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Geographic Tongue, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301)496-4261 Clinical Smell and Taste Research Center University of Pennsylvania Hospital 3400 Spruce Street, G1 Philadelphia, PA 19104 (215) 662-2653 Department of Oral Biology Connecticut Chemosensory Clinical Research Center Farmington, CT 06032 (203) 674-2459 References MERCK MANUAL OF DIAGNOSIS AND THERAPY: Robert Berkow, et al., eds; Merck, Sharp & Dohme Research Laboratories, 1982. P. 2094. Tongue, Geographic! pagetitle 332: Tongue, Geographic 04275.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 331: Tongue, Hairy _________________________ ** IMPORTANT ** It is possible the main title of the article (Hairy Tongue) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lingua Nigra Black Hairy Tongue General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hairy Tongue is a disorder characterized by yellowish, brownish, blackish, or bluish discoloration of the tongue, with excessive growth of the threadlike elevations in front of the taste buds (filiform papillae). These elevations are arranged in a V-form towards the back of the tongue. A bad taste in the mouth usually also occurs. Symptoms Hairy Tongue is a disorder characterized by yellowish, brownish, blackish, or bluish discoloration of the tongue. Excessive growth of the filiform papillae in front of the taste buds occurs. Usually, Hairy Tongue has no other symptoms. The disorder may disappear spontaneously and may recur in some patients. Causes The cause of Hairy Tongue is not always known. The disorder may be a result of antibiotic therapy, fever, excessive use of certain mouthwashes, or a reduction in salivary flow. Brown papillae usually occur from tobacco staining or the overgrowth of bacteria. Hairy Tongue can be a symptom of changes in the normal bacteria of the mouth (oral flora). Antibiotics which may be prescribed to fight bacterial infection, sometimes kill normal bacteria that live in the mouth. In the absence of the normal oral flora, Hairy Tongue can appear. Affected Population Onset and duration of Hairy Tongue is variable. The disorder can affect both males and females, children and adults. Related Disorders Geographic Tongue is an inflammation of the tongue that may go into remission and recur again. This form of inflammation is characterized by irregular denuded smooth areas (excoriations) on the tongue which may feel slightly sore and sometimes itchy. In Moeller's Glossitis (inflammation of the tongue), the tongue is slick, glossy, or glazed. The lesions are very distressing and persistent. Median Rhomboid Glossitis is a developmental lesion of the tongue. This lesion consists of a smooth, reddish, nodular area on the back portion of the middle third of the tongue. Severe Acute Glossitis can occasionally be caused by local infection, burns, or injury to the tongue. This type of Glossitis may develop rapidly, producing marked tenderness or pain with swelling. The swelling may be sufficient to cause the tongue to block air passages in the most severe cases. Burning Tongue (and/or Mouth) Syndrome causes patients to experience a burning sensation in the mouth and/or the tongue. There is no obvious clinical evidence of inflammation. Inflammation of the tongue (Glossitis) may also occur in association with Candidiasis (Thrush), anemias, Diabetes Mellitus, latent nutritional deficiencies, or malignancies. For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: tongue, Geographic Tongue, Burning Mouth, Candidiasis, anemia, and diabetes mellitus. Therapies: Standard Treatment of Hairy Tongue includes avoidance of irritants and substances which can sensitize the tongue. Discontinuation of antibiotics, mouthwashes, etc., usually results in disappearance of symptoms as normal oral flora grow in the mouth. The symptoms of Hairy Tongue may also disappear spontaneously. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hairy Tongue, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 Clinical Smell and Taste Research Center University of Pennsylvania Hospital 3400 Spruce Street, G1 Philadelphia, PA 19104 (215) 662-2653 Department of Oral Biology Connecticut Chemosensory Clinical Research Center University of Connecticut Health Center Farmington, CT 06032 (203) 674-2459 References MERCK MANUAL OF DIAGNOSIS AND THERAPY: Robert Berkow, et al., eds; Merck, Sharp & Dohme Research Laboratories, 1982. Pp. 2094-2095. Tongue, Hairy pagetitle 331: Tongue, Hairy 04276.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 537: Tooth and Nail Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Tooth and Nail Syndrome) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Dysplasia of Nails With Hypodontia Information on the following diseases can be found in the Related Disorders section of this report: Rapp-Hodgkin's Syndrome Nail Dystrophy-Deafness Syndrome Hidrotic Ectodermal Dysplasias Anhidrotic Ectodermal Dysplasias General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tooth and Nail Syndrome is a rare genetic, non-progressive disorder of the fetal ectodermal germ cell layer. The exact genetic and biochemical defects causing this disorder are not understood and are thought to vary between those affected. Symptoms Major symptoms of Tooth and Nail Syndrome may include lack of development of mandibular incisors, second molars, maxillary canines, and other permanent teeth. Abnormal growth of nails on the hands and feet also occurs. Causes The exact cause of Tooth and Nail Syndrome is not known, although it is thought to be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Tooth and Nail Syndrome affects males and females in equal numbers. It is frequently found in high concentrations among Canadian Dutch Mennonite populations. Related Disorders There are fifty-two Syndromes associated with Ectodermal Dysplasia. Symptoms of the following disorders are the most closely related to those of Tooth and Nail Syndrome. Comparisons may be useful for a differential diagnosis: Rapp-Hodgkin's Syndrome is an inherited disorder in which the sweat glands are affected as well as the teeth and nails. (For more information on this disorder, choose Ectodermal Dysplasia as your search term in the Rare Disease Database). Nail Dystrophy-Deafness Syndrome is an inherited disorder in which the hearing is affected as well as the teeth and nails. Hidrotic Ectodermal Dysplasias is an inherited disorder in which the teeth are not affected as they are in Tooth and Nail Syndrome. Anhidrotic Ectodermal Dysplasias is an inherited disorder which affects the oil secreting (sebaceous) glands in the skin and hair shafts. Syndromes with this pattern tend to be more severe. (For more information on these disorders, choose Ectodermal Dysplasias as your search term in the Rare Disease Database). Therapies: Standard Treatment of Tooth and Nail Syndrome with the use of dentures may be helpful. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tooth and Nail Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles: MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.722. Tooth and Nail Syndrome or ik pagetitle 537: Tooth and Nail Syndrome 04277.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 350: TORCH Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (TORCH Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Toxoplasmosis-Rubella-Cytomegalovirus-Herpes Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. TORCH Syndrome is a combination of 4 infectious diseases. The syndrome can occur in newborn babies, children, or adults with an impaired immune system. The four infections are: Symptoms TORCH Syndrome is a combination of 4 infectious diseases. The syndrome can occur in newborn babies, children, or adults with an impaired immune system. They include: 1) Toxoplasmosis Toxoplasmosis is an infectious disease that can be caused by a microscopic parasitic organism called Toxoplasma gondii. This parasitic infection, found worldwide, can be either acquired or transmitted to an infant from an infected mother during pregnancy. (For more information on this disorder, choose "Toxoplasmosis" as your search term in the Rare Disease Database.) 2) Rubella (German Measles) Rubella is a contagious virus infection characterized by swelling of the lymph glands and a skin rash. An infant born to a mother who is infected with the Rubella virus may have congenital defects such as poor vision, blindness and/or hearing impairment. (For more information on this disorder, choose "Rubella" as your search term in the Rare Disease Database.) 3) Cytomegalovirus Infection Cytomegalovirus Infection (CMV) is a virus infection which may occur right after birth or at any age. CMV can range in severity from a silent infection without consequences, to a disease manifested by fever, hepatitis, and in newborns, severe brain damage, stillbirth or perinatal death. (For more information on this disorder, choose see "Cytomegalovirus" as your search term in the Rare Disease Database.) 4) Herpes, Neonatal Neonatal Herpes is a very rare disorder affecting newborn infants infected with the Herpes simplex virus (HSV), also called Herpesvirus hominis. This disorder can vary from mild to severe. In most cases, the disorder is transmitted to an infant from an infected mother with active genital lesions at the time of delivery. Another technical possibility would be the transmission of the virus assymptomatically from mother to child at the time of delivery. In the event that a mother has a severe primary genital outbreak, it is possible that a mother could transmit the infection to the fetus. After delivery, direct contact with either genital or oral herpes sores could result in neonatal herpes. (For more information on this disorder, choose "Neonatal Herpes as your search term in the Rare Disease Database.) In the mild form, Neonatal Herpes may cause the skin, eyes, and mouth to become infected, and symptoms may recur for some time. Also, a mild case of neonatal herpes would likely include "blistery red lesions - lesions on the skin of an infant SHOULD be of great concern, but they no NOT necessarily mean the child will go on to develop serious disseminated disease. Severe neonatal herpes could be caused by either type 1 or type 2 infection. However, because the most common means of transmission is from mother to child at delivery, type 2 (which causes approximately 85% of genital herpes infections) would be more likely to cause neonatal herpes (in any form, mild to severe). In its severe form, Neonatal Herpes is a serious disease characterized by blistery (vesicular) red lesions of the skin and mucous membranes. Liver, spleen, lungs, brain, kidneys, and adrenal glands may also become infected. Causes The infectious TORCH Syndrome is caused by the Toxoplasmosis parasite and the 3 viruses causing Rubella, Cytomegalovirus infection, and Neonatal Herpes. In order for a patient to be affected by all of these very serious infections together, the victim must have an impaired immune system which makes it vulnerable to infections. Affected Population TORCH syndrome affects newborn infants or adults with an impaired immune system. Babies who are born with immune deficiencies and adults whose immunity is impaired as a result of cancer chemotherapy may be vulnerable to this syndrome. The syndrome has been found and studied in the United States, France, Italy, Turkey, Saudi Arabia, and Thailand. Therapies: Standard Treatment for TORCH Syndrome encompasses the treatments for the four disorders which together form the syndrome. These include antibiotics and antiviral drugs aimed at treating the infectious agents. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on TORCH Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Toxoplasmosis Interest Group 52 Edgell Street Gardner, MA 01440 (617) 632-7783 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE TORCH SYNDROME, A CLINICAL REVIEW: J. D. Fine, and K. A. Arndt; Journal of the American Academy of Dermatology (April 1985: issue 12,4). Pp. 2477-2478. TORCH, A LITERATURE REVIEW AND IMPLICATIONS FOR PRACTICE: L. Haggerty; Journal for Obstetric and Gynecological Nursing (March-April 1985: issue 14,2). Pp. 124-129. TORCH Syndrome pagetitle 350: TORCH Syndrome 04278.TXT -Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 2: Tourette Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Tourette Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Brissaud's II Chronic Multiple Tics Coprolalia-Generalized Tic Disorder Gilles de la Tourette's Syndrome also known as Gilles de la Tourette's Disease Guinon's Myospasia Impulsiva Habit Spasms Maladie de Tics Passing Tics of Childhood also known as Transient Tics of Childhood Tourette Disorder Tics TS Information on the following diseases can be found in the Related Disorders section of this report: Chronic Tics Transient Tics of Childhood Huntington's Disease Sydenham's Chorea Wilson's Disease Benign Essential Blepharospasm General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tourette Syndrome is a neurologic movement disorder that is characterized by repetitive motor and vocal tics. Symptoms may include involuntary movements of the extremities, shoulders, face and the voluntary muscles, with uncontrollable, inarticulate sounds and sometimes inappropriate words. Tourette Syndrome is not a progressive or degenerative disorder; rather, symptoms tend to be variable and follow a chronic waxing and waning course throughout an otherwise normal life span. Symptoms Tourette syndrome usually begins in childhood with a twitch (tic) of a facial muscle. A tic is an involuntary repetitive muscle movement. These tics usually appear as excessive eye blinking, nose twitching, or grimacing. Other gestures may include involuntary head shaking, shoulder jerking, arm flapping, foot stomping or the uncontrollable imitation of another person's movements. In some very severe cases some patients may have self-mutilating symptoms. The sounds produced can be inarticulate and meaningless, such as repeated throat clearing, grunts, barks, screams or sniffing. They can include words. The repetition of obscene words (coprolalia) occurs in approximately 30 percent of all patients. Involuntary repetition of a word or sentence spoken by the patient or another person (palilalia or echolalia) may also occur. Tics may subside when the patient is concentrating on a particular task, but intensify during stress. Over periods of months to years some symptoms may disappear and be replaced by new tics; or new symptoms may be added to old ones. Causes Seventy percent of Tourette Syndrome cases appear to be genetic, inherited as an autosomal dominant trait, although an X-linked Tourette modifier gene has been described. Research suggests that there may be a biochemical imbalance of neurotransmitter systems in the brain that causes the symptoms of Tourette Syndrome. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers of an X-linked disorder, but never to their sons. Women who are carriers of an X-linked disorder have a 50 percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk if transmitting the disease to their sons. The effect of gene penetrance is suggested by the high occurrence of first-degree relatives with mild tic conditions in families with Tourette syndrome. Some relatives may have chronic tics, while others may not display any tics but exhibit obsessive-compulsive behaviors, which research indicates are frequently associated with Tourette syndrome. Genetic studies suggest that only about 10 percent of affected Tourette syndrome relatives have symptoms severe enough to interfere with normal, daily living. The chance of an affected parent having a child with Tourette syndrome symptoms has been estimated to be approximately 40 to 50 percent. In many cases, however, the child will have a mild form of the syndrome, although severity of symptoms currently cannot be predicted. Affected Population Tourette syndrome begins in childhood typically between the ages of 2 and 16 years. There are rare cases with later onset as well as symptoms appearing as early as one year. The male:female ratio is 3:1. Tourette syndrome occurs in all nationalities and across all economic groups. The National Institute of Health estimates approximately 100,000 cases of Tourette Syndrome in the United States, although the prevalence may be much higher if all mild cases are counted. Related Disorders Symptoms of the following disorders can be similar to those of Tourette Syndrome. Comparisons may be useful for a differential diagnosis: Chronic Tics begin in childhood, or after the age of forty. Usually either motor or vocal tics are present, not both, and are more limited than in Tourette syndrome. Transient Tics of Childhood are common among elementary school children. These motor tics usually disappear within one year. Huntington's Disease (Huntington's Chorea) is an inherited disease (autosomal dominant) that affects the neurological system. It is progressive and degenerative. This condition initially produces the ceaseless occurrence of jerky and rapid movements that appear to be well coordinated but are actually involuntary. Personality changes also occur, eventually leading to dementia. Symptoms usually begin during adulthood after the age of forty. (For more information on this disorder choose "Huntington's Disease" as your search term in the Rare Disease Database). Sydenham's Chorea is an acute, usually self-limited disorder that occurs after about 5 to 10 percent of cases of rheumatic fever. Patients develop rapid, involuntary movements that can affect the manner or style of walking, arm movements and speech. Clumsiness and facial grimacing are common. (For more information on this disorder choose "Sydenham's Chorea" as your search term in the Rare Disease Database). Wilson's Disease (Hepatolenticular Degeneration) is a rare genetic disorder characterized by excess copper in various body tissues, particularly the liver, brain and eyes. Eventually there is central nervous system dysfunction. Early diagnosis and treatment can prevent long-term disabilities. Neurologic symptoms are usually first seen between the ages of 12 and 32 years. These may include jerky movements, drooling, speech difficulties, lack of coordination, tremor, muscle rigidity and double vision. Other signs include kidney stones, joint disorders and heart problems. (For more information on this disease choose "Wilson's Disease" as your search term in the Rare Disease Database). Benign Essential Blepharospasm is a disorder in which the muscles surrounding the eyelids (orbiculares oculi) do not function properly. Contractions or spasms of the muscles around the eyes occur. These contractions cease and then return intermittently. Although the eyes themselves are not affected, the patient may eventually become functionally blind due to the inability to open the eyelids. Approximately two-thirds of patients also have a general lack of facial muscle tone. About one-third of patients experience involuntary trembling (tremors). However, this disorder usually appears during middle age. (For more information on this disorder choose "Benign Essential Blepharospasm" as your search term in the Rare Disease Database). Therapies: Standard Low doses of the drug haloperidol (Haldol) help suppress the symptoms of Tourette Syndrome in many cases. Side effects often limit the use of this drug. Clonidine (Catapres), approved by the FDA for treatment of hypertension, appears to be effective on motor, vocal, and behavioral symptoms in approximately 50 percent of Tourette patients. Pimozide (Orap) is an approved orphan drug with Dopamine D-2 blocking action. Pimozide is reported to be as effective as Haldol with fewer side effects in the majority of Tourette patients. Other dopamine blocking drugs (i.e., prolixin) are also used to reduce Tourette symptoms. Supportive psychotherapy may be indicated to foster the patient's adjustment to this chronic, socially crippling disorder. Therapies: Investigational Research is ongoing in the areas of neurotransmitters, drugs, and genetics of Tourette syndrome. Studies are underway on drugs that treat the obsessive-compulsive symptoms of Tourette Syndrome including clomipramine and prolixin. Additionally, geneticists have identified several large families with many members affected by Tourette Syndrome. Studies of these families will hopefully lead to identification of the gene that causes this disorder, and ultimately to new treatments. This disease entry is based upon medical information available through August 1992. Since NORD's resources are limited it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the resources section for the most current information about this disorder. Resources For more information on Tourette Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Tourette Syndrome Association 42-40 Bell Blvd. Bayside, NY 11361 (718) 224-2999 (800) 237-0717 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 References CECIL TEXTBOOK OF MEDICINE, 19th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1990. Pp. 2137. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 270. TOURETTE'S SYNDROME AND TIC DISORDERS, CLINICAL UNDERSTANDING AND TREATMENT, Donald J. Cohen, et al., eds., John Wiley and Son, Inc., 1988.., 1988. Tourette Syndrome .pagetitle 2: Tourette Syndrome 04279.TXT $b$Copyright (C) 1990 National Organization for Rare Disorders, Inc. 823: Townes-Brocks Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Townes-Brocks Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Townes Syndrome Anus, Imperforate, with Hand, Foot and Ear Anomalies Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs Information on the following disorders can be found in the Related Disorders section of this report: Imperforate Anus VACTERL Association REAR Syndrome Holt-Oram Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Townes-Brocks Syndrome is a rare genetic disorder present at birth. Symptoms of the disorder and the severity of these symptoms vary from person to person. Major characteristics may include an absence of an anal opening in association with hand, foot and ear abnormalities. Hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers (sensorineural hearing loss or deafness) is present in some patients. Symptoms Townes-Brocks Syndrome is a rare genetic disorder. Characteristics of this disorder are present at birth and vary from person to person both in type and severity. ABNORMALITIES OF THE FACE AND EARS One side of the face may be smaller than normal (hemifacial microsomia) in individuals with Townes-Brocks Syndrome. External ears can be abnormally large, poorly-formed, or abnormally small (microtia, hypoplastic ears). There may be excess tags of flesh in front of the ears (preauricular protuberances or tags). Hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers (sensorineural hearing loss or deafness) is present in some patients. ABNORMALITIES OF THE HANDS AND FEET Thumbs of Townes-Brocks Syndrome patients may be smaller than normal (hypoplastic) or may appear to look more like a finger than a thumb. There may be an extra joint or bone in the thumb (triphalangeal thumb) and/or an extra thumb or finger (hexadactyly). Other hand and foot malformations may occur as well. There may be webbing between two or more fingers or toes (syndactyly). Fusions of bone may be present in the wrist. In the feet, fusion of the long bones (metatarsals) may occur, and/or these bones may be shorter than average. Some bones may be absent. The third toe may be missing or underdeveloped (hypoplastic). The fifth toe, or one or more of the fingers of the hand, may be malformed (clinodactyly). ANAL ABNORMALITIES In most patients with Townes-Brocks Syndrome, there is an absence of an anal opening (imperforate anus). Abnormal passages from hollow organs to the body surface or to another organ (fistulas), such as between the rectum and genitals (rectovaginal fistula or rectoperineal fistula), may be present. In some patients, abnormal placement of the anus can occur, and/or the anus may be constricted or smaller than normal (stenosis). Other abnormalities such as abnormal ridges of the genitals (perineal raphe) can also occur. RENAL ABNORMALITIES Underdeveloped kidneys (renal hypoplasia) or other related abnormalities (urorenal anomalies) can occur. Sometimes urine which is supposed to flow from the kidneys to the bladder flows backward (ureterovesical reflux). OCCASIONAL ABNORMALITIES Other characteristics of Townes-Brocks Syndrome can include indentations in front of the ears (preauricular pit), and/or heart (cardiac) defects. Part of the small intestine may be narrowed or occluded (duodenal atresia). Females may develop cysts in the ovary (cystic ovary). In the male there may be an opening located on the underside of the penis (hypospadias); in the female the urethra may open into the vagina. Causes Townes-Brocks Syndrome is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Townes-Brocks Syndrome is an extremely rare disorder present at birth. It affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Townes-Brocks Syndrome. Comparisons may be useful for a differential diagnosis: Imperforate Anus is a rare abnormality characterized by the absence or abnormal localization of the anus present at birth. The rectum or the colon may be connected to the vagina or the bladder by a tunnel (fistula). With surgical correction, normal elimination can become possible. Imperforate Anus can occur alone or as a symptom of another disorder. (For more information on this disorder, choose "imperforate anus" as your search term in the Rare Disease Database). VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia (absence of a normal anal opening), congenital (C)ardiac disease, (T)racheo(E)sophageal fistula (abnormal openings or passages between the windpipe and upper digestive tract), (R)enal anomalies, radial dysplasia, and other (L)imb defects. Abnormalities are present at birth. Symptoms occur in various combinations and can be manifestations of several recognized disorders. REAR Syndrome is an acronym for (R)enal anomalies, deformed external (E)ars and perceptive deafness, (A)nal stenosis, and (R)adial dysplasia. Underdeveloped kidneys are the most common renal abnormalities. The external ears are abnormally developed and deafness is present at birth. The anus is constricted or smaller than normal and other anal abnormalities can also occur. Abnormal tissue development is present in the area of the bone in the forearm (radius). (For more information on these disorders, choose "VACTERL" as your search term in the Rare Disease Database). Holt-Oram Syndrome, also known as Atriodigital Dysplasia or Heart-Hand Syndrome, is a genetic disorder comprised of atrial septal defect in association with hand and forearm deformities. (For more information on this disorder, choose "Holt" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Townes-Brocks Syndrome often includes surgery for malformations associated with this syndrome. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Townes-Brocks Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Hemifacial Microsomia Family Support Network 84 Glennifer Hill Rd. Richboro, PA 18954 (215) 364-3199 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 69. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 218-219. A NEW FAMILY WITH THE TOWNES-BROCKS SYNDROME. M. A. de Vries-Van der Weerd, et al.; Clin Genet (Sep 1988; issue 34 (3)). Pp. 195-200. PHENOTYPIC VARIABILITY IN TOWNES-BROCKS SYNDROME. J. Monteiro de Pina-Neto; Am J Med Genet (May 1984; issue 18 (1)). Pp. 147-152. TOWNES-BROCKS SYNDROME. REPORT OF A CASE AND REVIEW OF THE LITERATURE. F. G. Ferraz, et al.; Ann Genet (1989; issue 32 (2)). Pp. 120-123. TOWNES SYNDROME. A DISTINCT MULTIPLE MALFORMATION SYNDROME RESEMBLING VACTERL ASSOCIATION. J. H. Hersh, et al.; Clin Pediatr (Phila) (Feb 1986; issue 25 (2)). Pp. 100-102. Townes-Brocks Syndrome %pagetitle 823: Townes-Brocks Syndrome 04280.TXT Copyright (C) 1986, 1992 National Organization for Rare Disorders, Inc. 134: Toxic Shock Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of this article (Toxic Shock Syndrome) is not the name you expected. Please check the SYNONYM listing to find alternate names and disorder subdivisions covered by the article. Synonyms TSS Information on the following disorder may be found in the Related Disorders section of this report. Group A Beta-Hemolytic Strep General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Toxic Shock Syndrome (TSS) is a potentially fatal syndrome characterized by high fever, vomiting, diarrhea, confusion, and skin rash. It is almost always associated with the use of vaginal tampons and is a bacterial infection. Only about five percent of the cases occur in men or people who do not use tampons. Symptoms Symptoms of Toxic Shock Syndrome appear very suddenly. Initially, there is a fever of 102 to 105 degrees F, headache, sore throat, and conjunctivitis. Other early symptoms include profound lethargy, periods of disorientation, vomiting, severe diarrhea, and a diffuse sunburn-like rash leading to sloughing of skin after several days. In severe cases, the syndrome may progress to shock (dangerously low blood pressure and circulatory collapse) within forty-eight hours. Anemia and other abnormalities of the blood, abnormalities of kidney function, hepatitis, deterioration of skeletal muscle, and involvement of the lung and heart may occur during the first week of illness. Eighty-five to ninety-two percent of those affected survive TSS, although this may be inaccurate due to the diagnosis of only the more severe cases. Women who continue to use tampons during the first few months after illness risk a recurrence unless they have been successfully treated with antibiotics. Causes Toxic shock syndrome seems to be caused by a strain of Staphylococcus aureus bacteria which releases toxic substances which are absorbed by the patient. Mechanical and chemical factors associated with the use of menstrual tampons are thought to facilitate the production of bacterial toxin which enters the bloodstream via small wounds in the mucosa or through the uterus to the abdominal cavity. Recent scientific studies suggest that polyester foam and fibers, contained in some types of tampons, soak up a large amount of magnesium, which is normally present in vaginal tissue and fluid. When the magnesium is removed from the bacterium's environment, the bacteria responds by manufacturing quantities of the deadly toxin. Some manufacturers of tampons have withdrawn products containing polyacrylate rayon from the market and replaced them with safer, though somewhat less absorbent versions. Affected Population Primarily at risk for Toxic shock syndrome are women between the ages of thirteen and fifty who have a preexisting vaginal colonization of Staphylococcus aureus and who use tampons continuously during their menstrual periods. However, the syndrome has occurred in children as young as eight years old, as well as in men. The incidence is estimated to be 3 cases per 100,000 menstruating women. As of June 1, 1985, 262 cases of Toxic shock syndrome (TSS) with onset during 1984 had been reported to the Centers for Disease Control in Atlanta, GA. This brings to 2,815 the total number of cases that have been reported since 1980. Of these, 2,669 cases were in females, and 146 were in males. Cases have been reported from all fifty states. Nonmenstrual TSS accounted for twenty-seven percent of the reported 1984 cases, up from seven percent in 1980. TSS continues to be reported primarily among caucasian non-Hispanic women. Related Disorders A syndrome affecting children with "Toxic Shock" like symptoms has become more prevalent since first being reported in 1984. Invasive Group A Beta-Hemolytic Strep has doubled in children being treated in the past 3 years. Infections of the skin and respiratory tract are most common. Therapies: Standard Lactamase resistant penicillin or cephalosporins are recommended. Patients with Toxic Shock Syndrome should be hospitalized, as they are likely to need intensive supportive care to prevent circulatory collapse. Large amounts of fluid and electrolytes (salts) may be necessary. Other preventive measures are uncertain. Women should consider avoiding or using tampons only intermittently during the menstrual period. Avoidance of maximum absorbency tampons is advised. (For more information, see the Cause section). According to the latest Food and Drug Administration report, the use of the vaginal contraceptive sponge is relatively safe. While 12 cases of sponge-related toxic shock have been confirmed out of the estimated 600,000 women who regularly use the device, none of the cases have been fatal. However, women who use this product are cautioned to carefully follow the package instructions in order to minimize their own risk. The sponge should not be worn for more than 30 hours continuously, it should not be used if the woman is menstruating, and another method of contraception should be used for 6 to 12 weeks following the birth of a baby. If any problems develop, medical attention should be sought immediately. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Toxic Shock Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 72. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1598, 2323. APPARENT INCREASE IN THE INCIDENCE OF INVASIVE GROUP A BETA-HEMOLYTIC STREPTOCOCCAL DISEASE IN CHILDREN., L.B. Givner, J. Pediatr (March, 1991, issue 18). Pp. 341-346. Toxic Shock SyndromeC pagetitle 134: Toxic Shock Syndrome 04281.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 538: Toxocariasis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Toxocariasis) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Visceral Larva Migrans (VLM) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Toxocariasis is an infectious disorder caused by a worm parasite. It principally affects people in close contact with dogs or cats that carry these ascarid worm eggs. Symptoms Symptoms of Toxocariasis may include fever, nodular skin eruptions, coughing, wheezing and weight loss. Loss of appetite (anorexia), abdominal pain, seizures, cranial nerve palsies, blindness, liver and spleen enlargement and difficulty breathing may also occur. Causes Toxocariasis is caused by contact with the larvae of the toxocara worm which infects dogs and cats. Humans become infected when the larvae are ingested and travel through the circulatory system. These parasites invade the liver, lungs, brain and eyes. The dying larvae cause worsening inflammation which may result in complications, especially in the eyes. This may sometimes require the surgical removal of the gelatinous substance behind the eyeball (Pars plana vitrectomy). Affected Population Toxocariasis affects males and females in equal numbers. It is most common in young children from the south central or southeastern U.S.A. who play with infected pets. Therapies: Standard Toxocariasis infection is treated with the drugs Mintezol which is useful for reducing respiratory symptoms and corticosteroids which decreases the inflammation. Other treatment is symptomatic and supportive. The deworming of puppies, limiting exposure to nursing dogs, washing of hands after handling pets and preventing the eating of dirt by children is important in reducing the chance of Toxocara infection. Therapies: Investigational The ELISA (enzyme-linked immunosorbent assay) test is proving to be a sensitive and specific test for diagnosis of Toxocariasis infection. This procedure is being used on an experimental basis but may become a standard test in the future. This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Toxocariasis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Institute of Allergy & Infectious Diseases Office of Public Information 9000 Rockville Pike Bethesda, MD 20892 Centers for Disease Control Office of Public Inquiries 1600 Clifton Road NE Atlanta, GA 30333 (404) 639-3534 References SEROLOGIC AND INTRADERMAL TEST FOR PARASITIC INFECTIONS. D. A. Bruckner, Pediatr Clin North Am (August, 1985; issue 32 (4)). Pp. 1063-1075. HUMAN TOXOCARIASIS. REVIEW WITH REPORT OF A PROBABLE CASE. P. D. Morris, et al.; Postgrad Med (January, 1987; issue 81 (1)). Pp. 263-267. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1801-1802. Toxocariasis; pagetitle 538: Toxocariasis 04282.TXT *Copyright (C) 1986, 1987, 1988, 1989, 1993 National Organization for Rare Disorders, Inc. 268: Toxoplasmosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Toxoplasmosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS Lymphadenopathic Toxoplasmosis Disseminated Toxoplasmosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Toxoplasmosis is an infectious disease that can be caused by contact with a microscopic parasitic organism called Toxoplasma gondii. This parasitic infection, found worldwide, can be either acquired or be present at birth (congenital). The congenital type is a result of a maternal infection during pregnancy which is transmitted to the fetus, and involves lesions of the central nervous system. These lesions may lead to blindness, brain defects and more serious conditions. The disorder may be most severe when it is transmitted to the fetus during the second through sixth month of pregnancy. Twenty percent to 80% of those affected will show the presence of toxoplasmosis antibodies when tested. The acquired form includes these two types of Toxoplasmosis: 1) Lymphadenopathic Toxoplasmosis is a form of the disorder which resembles mononucleosis. 2) Disseminated Toxoplasmosis is a form of the disorder in which lesions involve chiefly the lungs, liver, heart, skin, muscle, brain, and spinal chord membranes (meninges). It is characterized by inflammation of the lungs (pneumonitis), hepatitis, inflammation of the muscular walls of the heart (myocarditis), and inflammation of the brain and meninges (meningoencephalitis), all in varying degrees. The prognosis for the acquired disease (when of moderate severity) is usually good with treatment, and commonly subsides without complications. If untreated, this infection may persist for many months, and can cause blindness. It is rarely fatal in adults. Symptoms Symptoms of Toxoplasmosis may be severe, rapidly appearing, or there may be no symptoms at all: 1) The more common mild form, which may resemble infectious mononucleosis, is characterized by a disease of the lymph nodes in the neck and armpit area (cervical and axillary lymphadenopathy), a vague feeling of discomfort (malaise), muscle pain and irregular low fever. Mild anemia, hypotension, reduction of total white blood cells (leukopenia), elevation of lymphoid white blood cell count (lymphocytosis), and slightly altered liver function may also occur. More commonly, it is a neck area lymph node disorder involving no other obvious symptoms (asymptomatic cervical lymphadenopathy). 2) In some cases the disorder may be an acute, suddenly occurring, disseminated infection that affects primarily those people who seem to have a reduced ability to fight infection. This is usually characterized with a rash, high fever, chills, and prostration. Some patients may develop inflammation of the lungs (pneumonitis), liver (hepatitis), muscular walls of the heart (myocarditis), and possibly inflammation of the brain and possibly meninges (meningoencephalitis). 3) Chronic toxoplasmosis, which causes severe inner eye inflammation (retinochoroiditis or posterior uveitis), may be marked by muscular weakness, weight loss, headache, and diarrhea. Symptoms are usually vague and indefinite making proper diagnosis difficult. In some cases of toxoplasmosis, confusion and headaches may be the primary symptoms. In the neonatal congenital type of toxoplasmosis, features can be variable. Spontaneous abortion (miscarriage) may ensue if the infection occurs early in pregnancy. Infection later in pregnancy may result in miscarriage or stillbirth, or in the birth of a living child with the disease. Symptoms of subacute toxoplasmosis infection may begin shortly after birth, but more often appear months or several years later. Central nervous system (CNS) disorders such as hydrocephalus, microcephaly, intracranial calcifications, and mental retardation may occur. Skin rashes, enlargement of the liver and spleen (hepatosplenomegaly), jaundice and inflammation of the choroid and retina of the eye (chorioretinitis) may also be present. Inflammation of the choroid and retina (chorioretinitis) usually accompanies the congenital form and may occur in the acquired forms. Chronic disease with relapses can continue to occur in patients who survive the subacute phase. Abdominal organ (visceral) lesions, aside from those in the liver, are unusual and tend to heal more readily than the central nervous systems lesions. Causes Toxoplasmosis is an infectious disease which may be either congenital or acquired. Several modes of transmission may occur and must be guarded against. These include a parasite carried by birds and certain mammals, notably cats, cattle, swine, sheep, rabbits, and dogs. The disorder may also be transmitted by consumption of under-cooked meat containing the parasitic organisms (cysts), or by contact with cat feces containing the encapsulated organisms (oocysts). Care must be taken when cleaning the litter boxes of infected cats as inadvertent hand-to-mouth contact with the parasite may occur. There is also evidence that the infection can be acquired through inhalation of the dust arising when cleaning the litter. However, with proper hygienic precautions, infection is very unlikely. Flies and/or cockroaches may possibly transport the oocysts to human food. In a human host, the infection may possibly represent a reactivation of the latent disease. The congenital type of toxoplasmosis is due to the infection being contracted during pregnancy and passed on to the fetus. In particular, contact with cats and cat feces during pregnancy must be avoided in particular to control this occurrence. Affected Population Toxoplasmosis affects men and women in equal numbers world wide. The occurrence rate in infants is 0.25 - 5.0 per 100,000 live births. This disorder also may cause many abortions and still births in areas of the world where the disorder may be more prevalent. Approximately 40% of children with Toxoplasmosis become infected in the womb because of maternal infection during pregnancy. Of these children, 15% have severe symptoms and 19% have mild symptoms. Fetal damage is most likely when the infection occurs during the second to the sixth month of gestation. The majority of children born with Toxoplasmosis have no symptoms at birth, but show evidence of damage several months to years later. The most common abnormalities are eye disease and low I.Q. The estimated frequency of Toxoplasmosis during pregnancy is 1.1 cases per 1,000 pregnant women. However, maternal Toxoplasmosis acquired a month or longer before the pregnancy is rarely transmitted to the fetus. Related Disorders Hepatitis is an infectious liver disorder which may be caused by exposure to a large variety of infectious agents or substances. Which type of hepatitis a patient may have is usually determined by the cause. When hepatitis is caused by toxoplasmosis, the liver and spleen are usually involved. (For more information on this disorder, choose "Hepatitis" as your search term in the Rare Disease Database.) Encephalitis encompasses a large group of viral infections of the brain with a variety of neurological symptoms which depend on the infectious agent. Encephalitis in conjunction with toxoplasmosis appears to be transmitted by the same carrier. Therapies: Standard Acute Toxoplasmosis of newborns, pregnant women, and patients who have had their immune response diminished should be treated with antibiotics such as trisulfapyrimidines or sulfadiazine, plus pyrimethamine for three to four weeks. The toxicity of pyrimethamine can be minimized with the daily administration of folinic acid. Since pyrimethamine can produce deformities in animal fetuses, sulfonamides alone should be used in pregnant women who are treated for toxoplasmosis. Some patients with Toxoplasmosis do not require specific therapy unless a vital organ such as the eyes, brain, or heart is involved, or if other symptoms are severe and persistent. Corticosteroids are often useful in these situations to control inflammation. Periodic blood counts may be obtained during therapy to monitor the toxicity of drugs used for treatment of this disorder. Since sulfadiazine is no longer manufactured in the United States, patients can receive the drug through the Centers for Disease Control (CDC). To request sulfadiazine, contact CDC's Division of Parasitic Diseases, National Center for Infectious Diseases, (404) 488-4928. Therapies: Investigational The Food and Drug Administration (FDA) has awarded a research grant to Rima McLeod, M.D., Michael Reese Hospital & Medical Center, Chicago, IL, for comparison studies on treatments for congenital Toxoplasmosis. Included in the studies are the experimental drugs pyrimethanine sulfadiazine, spiramycin, and pyrimethamin sulfadoxine. Research on Toxoplasmosis is ongoing in many parts of the world. For information on the latest developments in this research, please contact: Centers for Disease Control 1600 Clifton Rd. NE Atlanta, GA 30333. (404) 639-3534 For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Toxoplasmosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Toxoplasmosis Interest Group 52 Edgell Street Gardner, Mass. 01440 (617) 632-7783 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References MERCK MANUAL OF DIAGNOSIS AND THERAPY: Robert Berkow, et al., eds; Merck Sharp & Dohme Research Laboratories, 1982. P. 24. Toxoplasmosis ,pagetitle 268: Toxoplasmosis 04251.TXT Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 385: Tangier Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Tangier Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Familial Alpha-Lipoprotein Deficiency Alphalipoproteinemia Familial High-Density Lipoprotein Deficiency Analphalipoproteinemia Alpha High-Density Lipoprotein Deficiency Information on the following disease can be found in the Related Disorders section of this report: Acanthocytosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high density lipoproteins. Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems. Symptoms Tangier Disease is a slowly progressive disorder initially characterized by enlarged orange or yellowish-gray tonsils. This same discoloration may be found in other parts of the throat and/or rectum. In time, the liver, spleen and lymph nodes may become enlarged. Brain dysfunction, loss of tendon reflexes and coronary artery disease may also occur. In some cases, small solid elevated skin lesions (papules) may appear. Causes Tangier Disease is inherited as an autosomal recessive trait. The absence of normal amounts of high density lipoproteins (HDL) in the blood cause symptoms of this disorder. High density lipoproteins are fat-carrying components of the blood containing relatively low levels of fatty acids and high levels of proteins. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Tangier Disease is thought to be present at birth but without noticeable symptoms. It usually is diagnosed during later childhood or adulthood. Only twenty known cases in the world were documented between 1967 and 1977, although the primary reason for this small number may be misdiagnosis and a low level of the recognition of symptoms. This disorder was first identified in the inbred population of Tangier Island in Chesapeake Bay, Maryland, and later in Missouri and Kentucky. However, it may possibly be spreading to other countries. Related Disorders Acanthocytosis, also known as Bassen-Kornzweig Syndrome, is inherited as a recessive trait and can often be found in inbred populations. This disorder is marked by the absence of low density lipoproteins and excretion of fat in stools (steatorrhea). Other features of Acanthocytosis may include abnormal red blood cells (acanthocytes), retinitis pigmentosa, ataxia and mental retardation. Absorption of fat is markedly impaired. Massive doses of Vitamins E and A may delay or retard the neurologic complications. (For more information choose Acanthocytosis", "RP" and "ataxia" as your search terms in the Rare Disease Database). Therapies: Standard Treatment of Tangier Disease is symptomatic and supportive. Genetic counseling may be of benefit to families of patients with this disorder. Surgical removal of the spleen may become necessary in some cases if the spleen is enlarged. Therapies: Investigational This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tangier Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ANALYTICAL CAPILLARY ISOTACHOPHORESIS: A ROUTINE TECHNIQUE FOR THE ANALYSIS OF LIPOPROTEINS AND LIPOPROTEIN SUBFRACTIONS IN WHOLE SERUM: U. Borgmann, et al.; J Chromatogr (Feb. 22, 1985, issue 320(1)). Pp. 253-62. JAPANESE ADULT SIBLINGS WITH TANGIER DISEASE AND STATISTICAL ANALYSIS OF REPORTED CASES: K. Fujii, et al.; Tokai J Exp Clin Med (Dec. 1984, issue 9(5-6)). Pp.379-387. TANGIER DISEASE. A HISTOLOGICAL AND ULTRASTRUCTURAL STUDY: P. Dechelotte, et al.; Pathol Res Pract (Oct. 1985, issue 180(4)). Pp. 424-430. Tangier Disease pagetitle 385: Tangier Disease 04252.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 493: Tardive Dyskinesia _________________________ ** IMPORTANT ** It is possible the main title of the article (Tardive Dyskinesia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Tardive Dystonia Oral-facial Dyskinesia Linguofacial Dyskinesia Tardive Oral Dyskinesia TD Information on the following diseases can be found in the Related Disorders section of this report: Tourette Syndrome Huntington Disease Cerebral Palsy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tardive Dyskinesia (TD) is an involuntary movement disorder resulting from use of neuroleptic drugs which are used to control psychiatric or gastrointestinal problems. Long-term use of these drugs may produce biochemical abnormalities in the area of the brain known as the striatum. Symptoms Tardive Dyskinesia is characterized by involuntary and abnormal movements of the jaw, lips and tongue. Typical symptoms include grimacing, sticking out the tongue, sucking or fish-like movements of the mouth. In some cases, the arms and/or legs may be affected by involuntary rapid, jerking movements (chorea), or slow, writhing movements (athetosis). Causes Tardive Dyskinesia is caused by long-term use of neuroleptic drugs. Neuroleptic drugs are often prescribed for management of certain mental, neurological, or gastrointestinal disorders. Affected Population Tardive Dyskinesia affects individuals who have been taking neuroleptic drugs for a long period of time. A high percentage of schizophrenic people who have spent long periods of time in mental hospitals have a high risk of developing TD. Related Disorders Symptoms of the following disorders can be similar to those of Tardive Dyskinesia. Comparisons may be useful for a differential diagnosis: Huntington Disease (also known as Huntington's Chorea) is an inherited neurological illness. Those affected experience involuntary movements, loss of motor control, changes in gait, loss of memory, and in some cases, dementia. In general, the first symptoms of HD appear between thirty and fifty years of age. HD runs a progressive course, severely weakening patients usually over a ten to twenty year period, whereas there is no degeneration in Tardive Dyskinesia. (For more information on this disorder, choose "Huntington" as your search term in the Rare Disease Database.) Cerebral Palsy is a disorder characterized by impaired muscle control or coordination (motor output system) resulting from injury to the brain during its early stages of development (the fetal, perinatal, or early childhood stages). There may be associated problems with sensory input, such as vision or hearing defects, central processing (such as communication), intellectual or perceptual deficits, and/or seizures. People with CP can have slow facial and tongue movements, which may resemble TD. (For more information on this disorder, choose "Cerebral Palsy" as your search term in the Rare Disease Database). Tourette Syndrome is a neurological movement disorder which begins in childhood between the ages of two and sixteen. The disorder is characterized by involuntary muscular movements called "tics", and uncontrollable vocal sounds. Sometimes inappropriate words may unavoidably be spoken. Tourette Syndrome is not a degenerative disorder and those affected can expect to live a normal life span. Neuroleptic drugs such as haloperidol and pimozide can be prescribed as treatments for TS, so it may be difficult to determine whether facial and tongue movements in TS patients are caused by the disorder or the drugs. Therapies: Standard Treatment of Tardive Dyskinesia initially consists of discontinuing the neuroleptic drug as soon as involuntary facial movements are noticed in psychotic patients. In some cases, physicians may decide to reinstitute the drug if the TD symptoms do not disappear and if they are very severe. Therapies: Investigational Vitamin E is being used experimentally to treat Tardive Dyskinesia. Participants in this study must have moderate to severe persistent Tardive Dyskinesia and be between eighteen and seventy years of age. Patients of all psychiatric diagnoses will be considered for admission to the four month study. For more information, physicians with patients interested in this research project should contact: Denise Juliano, MSW Coordinator of Admissions Neuropsychiatric Research Hospital 2700 Martin Luther King Jr. Avenue, SE Washington, DC 20032 (202) 373-6100 Many experimental drugs are being tested to reduce or eliminate the symptoms of Tardive Dyskinesia. For more information about these studies, please contact the agencies listed in the Resources section of this report. This disease entry is based upon medical information available through July 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tardive Dyskinesia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Association for Tardive Dyskinesia 1206 E. Pike St. Seattle, WA 98122 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) Dystonia Medical Research Foundation One E. Wacker Dr., Suite 2900 Chicago, IL 60601-2001 (312) 755-0198 National Mental Health Association 1021 Prince Street. Alexandria, VA 22314 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2160. DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3rd ed.: American Psychiatric Association, 1984. Pp. 76-77. SUPPRESSION OF TARDIVE DYSKINESIA WITH AMOXAPINE: CASE REPORT: D.A. DMello, et al.; J Clin Psychiatry (March 1986, issue 47(3)). Pp. 148. FACIAL DYSKINESIA: J. Jankovic, et al.; Adv Neurol (1988). P. 49. Tardive Dyskinesia pagetitle 493: Tardive Dyskinesia 04253.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 370: Tarsal Tunnel Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Tarsal Tunnel Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Posterior Tibial Nerve Neuralgia Information on the following diseases can be found in the Related Disorders section of this report: Erythromelalgia Burning Feet Syndrome, also known as Gopalan Syndrome Carpal Tunnel Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tarsal Tunnel Syndrome involves pressure on nerves to the foot causing pain. Persons with this disorder may notice a painful burning or tingling sensation in and around the ankles, sometimes extending to the toes. The disorder usually affects people who stand on their feet for long periods of time. Symptoms The initial symptoms of Tarsal Tunnel Syndrome are swelling of the feet, painful burning, tingling or numb sensations in the lower legs. Symptoms can become more intense and extend to leg muscles after standing for long periods during the day. These symptoms usually diminish with successful treatment. Causes Tarsal Tunnel Syndrome can be caused by a number of different conditions which can compress the tibial nerve at the ankle. Benign tumors (usually composed of fat cells), bone spurs, cysts, and inflammation of the tendon sheath may use Tarsal Tunnel Syndrome. Affected Population Tarsal Tunnel Syndrome can begin at any age but is usually related to activities which involve long periods of standing. This disorder seems to affect males and females in equal numbers. Related Disorders Erythromelalgia is a syndrome of sudden intensive dilation of blood vessels (paroxysmal vasodilation). This causes intense burning pain, increased skin temperature, and redness of the feet and, less often, the hands. (For more information on this disorder, choose "Erythromelalgia" as your search term in the Rare Disease Database). Burning Feet Syndrome, also known as Gopalan Syndrome, is thought to be caused by a possible deficiency of a B Vitamin or pantothenic acid. Severe burning, aching and cramp-like pains in the soles of the feet (and possibly palms of the hands) can occur. Often, a sensation like pins and needles appears. Carpal Tunnel Syndrome results from compression of the median nerve in the wrist (between the tendons of forearm muscles and the carpal ligament in the hand). This compression produces abnormal sensations in the hand plus pain in the wrist, the palm, or in the forearm. Commonly, patients feel that their hand "falls asleep" often. Carpal Tunnel Syndrome is relatively common. It may occur in one or both hands and it is seen more often in women. It often occurs in patients with acromegaly, myxedema, rheumatoid arthritis and also in people with occupations that require repeated forceful wrist flexion (e.g. carpenters). (For more information, choose "Neuropathy, Peripheral" as your search term in the Rare Disease Database). Therapies: Standard When the nerve of the foot is not under continuous pressure, drugs (usually in ointment form) may be useful to treat local inflammations and ease muscle pain in Tarpal Tunnel Syndrome. Immobilizing the foot or inserting a device in the shoe to reduce tension on the nerve may improve symptoms. Surgery should be reserved for cases that do not respond to more conservative treatment. This disorder can usually be treated by Orthopedic Surgeons or Podiatrists. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tarsal Tunnel Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References TARSAL TUNNEL SYNDROME: E.L. Radin; Clin Orthop (Dec. 1983, issue 181). Pp. 167-170. TARSAL TUNNEL SYNDROME. A CASE REPORT AND REVIEW OF THE LITERATURE: G.M. O'Malley, et. al.; Orthopedics (June 1985, issue 8(6)). Pp. 758-760. Tarsal Tunnel Syndrome pagetitle 370: Tarsal Tunnel Syndrome 04254.TXT Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 397: Tarui Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Tarui Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Glycogen Disease of Muscle Glycogen Storage Disease VII Glycogenosis Type VII Muscle Phosphofructokinase Deficiency Phosphofructokinase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: McArdle Disease Pompe Disease Forbes Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tarui Disease is a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by a lack of the enzyme phosphofructokinase in muscle and a partial deficiency of the enzyme in red blood cells. The enzyme deficiency prevents the breakdown of glucose into energy. Tarui Disease is characterized by pain and cramps in muscles during heavy exercise. Symptoms Symptoms of Tarui Disease include pain and cramps in muscles during strenuous exercise. These symptoms usually are not severe. Causes Tarui Disease is a disorder inherited through autosomal recessive genes. The condition is caused by a deficiency of the enzyme phosphofructokinase. This enzyme normally converts fructose-6-phosphate to fructose-1,6-diphosphate. This is the controlling step in the breakdown of glucose into available energy. Therefore, energy is not available to a muscle during heavy exercise. Consequently, pain and cramps occur in the muscle. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population All Glycogen Storage Diseases together affect about 1 in 40,000 persons in the United States. Tarui Disease affects males and females in equal numbers. Related Disorders Glycogen Storage Diseases are caused by inborn errors of metabolism in which the balance between stored energy (glycogen) and available energy (sugar or glucose) is disturbed. Too much glycogen to be stored in the liver and muscles and too little sugar available in the blood. The following disorders are similar to Tarui Disease. These can be compared to Tarui Disease for a differential diagnosis: McArdle Disease is a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by an inborn lack of the enzyme myophosphorylase. This enzyme is needed for the breakdown of glycogen (the body's form of stored energy) into sugar (glucose). In McArdle Disease the breakdown of glucose cannot take place. Severe muscle cramps occur as a result of heavy exercise. Pompe Disease is a glycogen storage disease. This hereditary metabolic disorder is caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase). This enzyme deficiency causes excess amounts of glycogen (the stored form of energy that comes from carbohydrates) to accumulate in all body tissues, especially in the heart muscle. Forbes Disease is a glycogen storage disorder inherited through autosomal recessive genes. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and heart. The nerves ic the back of the legs and on the sides of the heel and foot (sural nerves) also accumulate excess glycogen. The heart may be involved in some cases. For more information on the above disorders, choose "McArdle," "Pompe," and "Forbes" as your search terms in the Rare Disease Database. Therapies: Standard Treatment of Tarui Disease is symptomatic and supportive. Strenuous exercise should be avoided to prevent muscle pain and cramps. Therapies: Investigational Dr. Y.T. Chen at Duke University Medical Center, at the request of the Glycogen Storage Disease Association, is collecting DNA from patients with Glycogen Storage Disease Type I to form a DNA bank for GSDI. Interested patients may contact the Glycogen Storage Diseases Association for further information. The address and phone number of the organization are listed in the Resources section of this report. This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tarui Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Glycogen Storage Disease P.O. Box 896 Durant, IA 52747 (319) 785-6038 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References EXCESS PURINE DEGRADATION IN EXERCISING MUSCLES OF PATIENTS WITH MUSCLE GLYCOGEN STORAGE DISEASE TYPES V AND VII: I. Mineo, et al.; Journal Clin Invest (August 1985: issue 76,2). Pp. 556-560. Tarui Disease pagetitle 397: Tarui Disease 04255.TXT 'g'Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 9: Tay-Sachs Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Tay-Sachs Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Amaurotic Familial Idiocy Amaurotic Familial Infantile Idiocy Cerebromacular degeneration GM2 Gangliosidosis, Type 1 Hexoaminidase Alpha-Subunit Deficiency (Variant B) Infantile cerebral ganglioside Infantile sipoidosis GM-2 gangliosideoses (type S) Lipidosis, ganglioside, infantile Sphingolipidosis Information on the following diseases can be found in the Related Disorders section of this report: Sandhoff Disease Alper's Disease Kufs Disease Leighs Disease General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tay-Sachs disease is a rare inherited disorder that results in the progressive destruction of the central nervous system. The body is unable to properly metabolize certain fats (lipids) due to the absence of an enzyme (hexosaminidase A). This results in the accumulation of these fats in the brain (GM2 ganliosidosis). The disease is generally found among children of East European Jewish heritage. Sandhoff disease is another form of Tay-Sachs disease that is not limited to any particular ethnic group. Symptoms Tay-Sachs disease is a rare inherited disorder that results in the progressive destruction of the central nervous system. The body is unable to properly metabolize certain fats (lipids) due to the absence of an enzyme (hexosaminidase A). This results in the abnormal accumulation of these fats in the brain (GM2 ganliosidosis). Tay-Sachs disease generally begins as mild muscle weakness with onset around 3 to 5 months of age. An abnormal startle response (a normal reflex in young infants caused by a sudden loud noise) and muscle spasms (myoclonic jerks) may also be seen at this time. Between 6 to 10 months of age further signs appear; i.e., feeding difficulties, muscle weakness (hypotonia), restlessness and vision abnormalities such as staring episodes, unusual eye movements and red circular spots in the eyes surrounded by fluid (cherry red macular spots). By the end of the first year there is increasing loss of vision. After 12 months the child begins to regress, losing learned skills and coordination. Seizures begin and deterioration continues. Eventually the child is limp (flaccid), unresponsive and paralyzed. Tay-Sachs disease can be detected prenatally through amniocentesis. Prospective parents can be tested to determine if they are carriers for the Tay-Sachs gene. Both the mother and the father must have the gene in order for a child to be affected (see "Causes"). Causes Tay-Sachs Disease is a very rare disorder inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. The gene that causes Tay-Sachs and its resulting enzyme deficiency (hexoaminidase B subunit) has been located on chromosome 5. This deficiency causes excessive storage of certain fats (gangliosides) in the central nervous system. Affected Population Tay-Sachs disease primarily affects children of Eastern European Jewish ancestry (Ashkenazi). Approximately 1 in 30 Ashkenazi Jews carry the gene for Tay-Sachs Disease. It is also sometimes found in some communities of Italian descent, in Irish Catholics and in non-Jewish Canadians. Related Disorders Symptoms of the following disorders, can be similar to those of Tay-Sachs disease. Comparisons may be useful for a differential diagnosis. Sandhoff Disease is another form of Tay-Sachs disease. It is a severe, progressive, inherited, fat (lipid) storage disorder that leads to the destruction of the central nervous system. The first symptoms usually occur in the third to sixth month of life. These symptoms may include feeding problems, general tiredness (lethargy) and a marked "startle" response to sounds. Cherry red spots (macules) are usually seen in the eyes. (For more information on this disorder, choose "Sandhoff Disease" as your search term in the Rare Disease Database). Alpers Disease is a rare progressive neurological disorder affecting infants and children. It is characterized by the degeneration (deterioration) of areas of the brain (cerebral gray matter). This may result in muscle disturbances, seizures, partial paralysis, jerky muscle spasms (myoclonus), blindness and growth retardation. Unrelenting seizures and mental deterioration may occur. Liver disease may also be associated with this disorder. (For more information on this disorder, choose "Alpers Disease" as your search term on the Rare Disease Database). Kufs Disease is a very rare inherited disorder that causes an accumulation of pigmented fats in the brain (lipofuscinoses). Symptoms may include muscle weakness, lack of coordination, confusion, behavioral changes, and in some cases severe mental disturbances may occur. Kufs disease first appears in adolescents or young adults. The AB variant of Tay-Sachs disease (hexosaminidase activator deficiency) might be confused with this disorder initially. Later symptoms of Kufs disease may include large, dark, round spots on the skin (ichthyosis vulgaris). (For more information on this disorder, choose "Kufs Disease" as your search term in the Rare Disease Database). Leigh's Disease is a severe genetic metabolic disorder that is generally diagnosed in infancy. This disease causes damage to the brain, spinal cord and optic nerve. Infants may have low body weight, slow growth and seizures. There is a progressive loss of neurological function which may result in mental retardation. (For more information on this disorder, choose "Leigh's Disease" as your search term in the Rare Disease Database). Therapies: Standard The treatment of Tay-Sachs disease is symptomatic and supportive. The presence of the gene that causes Tay-Sachs disease can be detected prior to birth (prenatally) by a laboratory analysis of the fluid that surrounds the fetus (amniocentesis). Prospective parents can be tested to determine if they are carriers for this disease. Pregnancies in couples at risk (both parents carriers) can be tested by amniocentesis. Therapies: Investigational Research is ongoing for Tay-Sachs Disease. Scientists have not yet discovered a way to replace the missing enzyme in the bodies of children with this disorder. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tay-Sachs Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St., Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 National Foundation for Jewish Genetic Diseases 250 Park Ave., Suite 1000 New York, NY 10177 (212) 682-5550 Tay-Sachs and Allied Diseases Association 17 Sydney Road Barkingside, Ilford Essex England 01-550-8989 Dr. Roy Gravel Montreal Children's Hospital 2300 Tupper St. Montreal PQ H3H 1P3 Canada Research Trust for Metabolic Diseases in Children Golden Gates Lodge Weston Road Crewe CW1 1XN, England (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 149, 157, 174. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1198-1201. BIOCHEMISTRY AND GENETICS OF TAY-SACHS DISEASE; Canadian Journal of Neurological Science, (Aug 1991, issue 18 (3 suppl)). Pp. 419-423.419-423. Tay-Sachs Disease (pagetitle 9: Tay-Sachs Disease 04256.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 582: Telecanthus _________________________ ** IMPORTANT ** It is possible that the main title of the article (Telecanthus With Associated Abnormalities) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms BBB Syndrome Hypertelorism-Hypospadias Syndrome Dystopia Canthorum Information on the following diseases can be found in the Related Disorders section of this report: G Syndrome Waardenburg Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Telecanthus With Associated Abnormalities is a very rare genetic disorder affecting the eyes and other parts of the body. Major symptoms include very widely spaced eyes (hypertelorism), urinary tract anomalies, and abnormalities in the development of the mouth and the lips. Symptoms Telecanthus With Associated Abnormalities is apparent at birth. The most obvious features are very widely spaced eyes that may be crossed or misaligned (strabismus) combined with a high broad nasal bridge. This may be accompanied by urinary tract deformities such as the opening of the urethra set very low on the underside of the male penis (hypospadias) or opening into the vagina of females. Often the testicles of the affected males are undescended (cryptorchidism). There may be clefting of the palate, lips and back of the mouth (uvula) and often patients show one or more congenital heart defects. There is a high rate of mental retardation among affected males. Causes The exact cause of Telecanthus With Associated Abnormalities is not known. It is thought to be inherited as an X-linked trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Affected Population Telecanthus With Associated Abnormalities affects males more often and more seriously than females. Related Disorders Symptoms of the following disorders can be similar to those of Telecanthus With Associated Abnormalities. Comparisons may be useful for a differential diagnosis: G Syndrome is marked at birth by widely spaced eyes (hypertelorism), a broad, flat nasal bridge, neuromuscular defects of the esophagus and swallowing mechanism, and a hoarse cry. The opening of the urethra may be too low on the underside of the penis (hypospadias). Undescended testicles (cryptorchidism), a scrotum that is divided into two parts (bifid) and an anus without an opening (imperforate) may be present. Waardenburg Syndrome is characterized by displacement of the inner folds of the eyelids, prominence of the nose, and overdevelopment of the eyebrows. The patient may have two different colored eyes or two colors in one iris of the eye. Congenital nerve deafness may also occur. A white streak of hair in the front (forelock) of the head or early greying of the hair may characterize this disorder. A thin nose with flaring nostrils, a "cupid bow" configuration of the lips, wide-set eyes, inflammation of the tear sac and drooping of the upper eyelids may occur. A lack of an indent between the nose and the forehead, prominent lower jaw and a clefted or high-arched palate may also be present. (For more information on this disorder, choose "Waardenburg" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Telecanthus With Associated Abnormalities may include reconstructive surgery to correct the spacing between the eyes as well as straightening the eyes themselves. Surgical correction of the urinary deformities as well as the cleft palate, lips and uvula may also be recommended. If heart deformities are present, surgery may be necessary. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Telecanthus with Associated Abnormalities, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Craniofacial Foundation 3100 Carlisle Suite 215 Dallas, TX 75204 1-800-535-3843 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1458. PHENOTYPIC OVERLAP OF THE BBB AND G SYNDROMES. J. F. Cordero, et al., Am J Med Genet (1978, issue 2 (2)). Pp. 145-152. STUDIES OF MALFORMATION SYNDROMES OF MAN VB; THE HYPERTELORISM-HYP (BBB) SYNDROME. CASE REPORT AND REVIEW. C. H. Gonzalez, et al., Eur J Pediatr (April, 1977, issue 125 (1)). Pp. 1-13. THE G AND BBB SYNDROMES; CASE PRESENTATIONS, GENETICS, AND NOSOLOGY. S. J. Funderburk, et al., Am J Med Genet (1978, issue 2 (2)). Pp. 131-144. Telecanthus (3_ pagetitle 582: Telecanthus 04257.TXT Copyright (C) 1986, 1988, 1989 National Organization for Rare Disorders, Inc. 296: Temporomandibular Joint Dysfunction (TMJ) _________________________ ** IMPORTANT ** It is possible that the main title of the article (Temporomandibular Joint Dysfunction) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Impostor Disease Pain-Dysfunction Syndrome Myofascial Pain-Dysfunction Syndrome Costes Syndrome Temporomandibular Joint Syndrome TMJ Information on the following diseases can be found in the Related Disorders section of this report: Rheumatoid Arthritis Tinnitus Tetanus General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Temporomandibular Joint Dysfunction (TMJ) is a painful disorder of the jaw joint which is made worse during or after eating or yawning. It can cause limited jaw movement and clicks and pops during chewing. In severe cases pain can radiate into the neck, shoulders and back. Symptoms TMJ Dysfunction is characterized by painful jaw movement. The pain may also involve the eyes, ears, teeth, head, neck, shoulders and back. Sometimes there is ringing in the ears (tinnitus), dizziness and loss of equilibrium. Difficulties of movement in the jaw can result in swallowing and chewing problems. About eighty-five percent of patients feel pain on only one side usually in the temple, cheek, and front of the ear. The pain may be constant or come and go. Causes There are many causes of TMJ Dysfunction. Organic or systemic causes include benign or malignant tumors, rheumatoid arthritis and osteoarthritis. Functional causes include jaw displacement, breakdown of the support provided by the teeth, injury from accident or most commonly grinding of the teeth (bruxism). The following are the most common causes of TMJ Dysfunction: Myofascial Pain Dysfunction (MPD) Syndrome affects the chewing muscles. Muscle spasms, often caused by grinding the teeth, create facial pain that may spread to nearby muscles. Disturbances in the joint's functioning, the most common of which is disk displacement due to stretching or tearing of the fibrous tissue attaching it to the joint capsule. Injury problems such as jawbone dislocation from a blow during a car accident or fall. The jaw joint can be dislocated without force from outside the body, from strained opening of the mouth, for example. Degenerative Joint Disease (Osteoarthrosis) in which fibrous and cartilage-like tissues wear away from the jaw joint . This alters movement and creates a crackling sound when the jaw moves. Inflammatory Joint Disorders occur when membranes on the sides of the disk become inflamed due to rheumatoid arthritis. Chronic restricted jaw movement such as fibrous ankylosis, occurs when fibrous tissue forms in the joint reducing jaw movement. Left untreated it can "freeze" the jaw. Joint growth disorders cause the jawbone to continue to enlarge after growth should have stopped. This causes the bite and joint movements to become abnormal. Affected Population TMJ Dysfunction is a very common condition of adulthood which affects females three times more often than males. It is most common in women ages fifteen to forty-four. Related Disorders Symptoms of the following disorders can be similar to those of TMJ. Comparisons may be useful for a differential diagnosis: Rheumatoid Arthritis is a disease of unknown origin which may have a relationship to autoimmune processes. This disorder is characterized by lack of appetite (anorexia), tiredness, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. Once affected, a patient's joints remain painful or uncomfortable for weeks, months, or even years. (For more information on this disorder, choose "Arthritis " as your search term in the Rare Disease Database). Tinnitus is the perception of sound such as a ringing in the ears, in the absence of an actual sound. The disorder may be caused by a variety of ear problems including obstruction, infections, Meniere's disease, certain medications and head injuries. (For more information on this disorder, choose "Tinnitus " as your search term in the Rare Disease Database). Tetanus is an infectious disease marked by painful muscular contractions caused by the toxin tetanospasmin, acting upon the central nervous system. Tetanus can cause "Lockjaw" which freezes the jaw into a locked position. Therapies: Standard Treatment of TMJ Dysfunction varies according to the patients needs. It may consist of plastic bite plates to reposition or relax the jaw and muscles and reduce pressure on teeth and jaw joints. If TMJ is caused by grinding of the teeth these plastic devices often alleviate the problem. Some people wear the bite plates at night when grinding of the teeth cannot be consciously avoided. Treatment of muscle spasms may include relaxant drugs such as diazepam and analgesics for pain. Physical therapy, splints, permanent jaw adjustments or corrective dental work are also sometimes necessary. Therapies: Investigational Surgery is rarely used to correct TMJ Dysfunction. This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Temporomandibular Joint Dysfunction, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The TMJ Association, Ltd. 6418 W. Washington Blvd. Wauwatosa, WI 53213 (414) 259-9334 TMJ Booklet American Academy of Otolaryngology Head and Neck Surgery 1101 Vermont Ave., NW, Suite 302 Washington, DC 20005 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 References TM DISORDERS; ACHES AND PAINS FROM FLAWS IN THE JAWS. D. Farley, FDA Consumer (June, 1988 issue). Pp. 6-10. INCIDENCE AND CHARACTERIZATIONS OF TEMPOROMANDIBULAR JOINT SOUNDS IN ADULTS. S. D. Vincent, et al.; J Am Dent Assoc (February, 1988, issue 116 (2)). Pp. 203-206. CERVICAL EXTENSION-FLEXION INJURY (WHIPLASH) AND INTERNAL DERANGEMENT OF THE TEMPOROMANDIBULAR JOINT. S. Weinberg, et al.; J Oral Maxillofac Surg. (August, 1987, issue 45 (8)). Pp. 653-656. THE ACOUSTICAL CHARACTERISTICS OF THE NORMAL AND ABNORMAL TEMPOROMANDIBULAR JOINT. T. Gay, et al.; J Oral Maxillofac Surg (May, 1987, issue 45 (5)). Pp. 397-407. Temporomandibular Joint Dysfunction (TMJ) Che} pagetitle 296: Temporomandibular Joint Dysfunction (TMJ) 04258.TXT ` S Copyright (C) 1990 National Organization for Rare Disorders, Inc. 779: Tethered Spinal Cord Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Tethered Spinal Cord Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Occult Spinal Dysraphism Sequence Tethered Cord Syndrome Tethered Cord Malformation Sequence Tethered Cervical Spinal Cord Syndrome Congenital Tethered Cervical Spinal Cord Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Diastematomyelia Spina Bifida General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tethered Spinal Cord Syndrome is a disorder characterized by progressive neurological deterioration due to unnatural stretching of the spinal cord caused by adhesions on the vertebrae. It most commonly results from defective closure of the neural tube during embryonic development (Spina Bifida). Symptoms Initial symptoms of Tethered Spinal Cord Syndrome are usually urological and may include the inability to control urination (incontinence) and repeated urinary tract infections. Children who have tethered spinal cords usually show progressive foot and spinal deformities. At birth there is also usually a characteristic lesion on the skin of the lower back. These lesions may consist of tufts of hair, skin tags, dimples or fatty tumors. Other symptoms may include weakness of the lower extremities, inability to control bowel function (fecal incontinence), low back pain or a combination of these symptoms. Adult onset of the disorder is very rare. When it does occur, the individual initially shows no symptoms. Later, the most common symptom is diffuse leg pain which may reach as high as the rectum. Progressive sensory and motor deficits may occur in the lower extremities, as well as bladder and bowel dysfunction. Scientists believe that the amount of pulling force (traction) exerted on the spinal cord, rather than the type or distribution of lesions that are causing the pulling, probably determines the age of onset of symptoms. Less severe traction usually produces no symptoms in childhood, but may result in neurological dysfunction in later life due to repeated tugging at the base of the spinal cord during natural head and neck flexion, or when the condition is aggravated by trauma or disease. Causes The presence of adhesions on vertebrae is believed to be the cause of Tethered Spinal Cord Syndrome. These adhesions may be the result of structural defects arising from improper closure of the neural tube (Spina Bifida) at approximately 28 days of embryonic development. Failure of proper development in this area may lead to a wide variety of orthopedic or urologic symptoms through tethering or compression of the nerve roots. Children with benign skin tumors (cutaneous hemangiomas) on the lower back may also have tethered spinal cords. Tethered Spinal Cord Syndrome is also occasionally associated with diastematomyelia, a disorder characterized by diversion of the spinal cord by a midline septum during embryonic development. Affected Population Tethered Spinal Cord Syndrome affects males and females equally. First degree relatives of those with the malformation appear to be at slightly higher risk of developing it. Individuals with previously repaired defects of the neural tube are also particularly susceptible to this disorder. Related Disorders The following disorders are often associated with Tethered Spinal Cord Syndrome. Diastematomyelia is a rare and very serious spinal cord malformation. It is believed to be caused by genetic or environmental factors during the embryonic development which causes a longitudinal division in half of the spinal cord. In some cases, there are abnormalities of the vertebrae due to the adjustment necessary for encasing the two halves of the spinal cord. Diastematomyelia is often associated with Spina Bifida (failure of the neural tube to close completely), clubfoot or Tethered Spinal Cord Syndrome. Symptoms may include pain, weakness of legs and loss of control over urinary and fecal functions (incontinence). Surgery during infancy is often recommended. However, later in life, surgery is performed only if neurological symptoms develop. Spina Bifida is a disorder characterized by defective closure of the neural tube through which the spinal cord may bulge. It may range in severity from presenting no symptoms to severe neurological disability. One or more of the individual bones of the spine fail to close completely, leaving a cleft or defect in the spinal canal. Through such an abnormal opening, part of the contents of the spinal canal can protrude or herniate. In mild cases, the disorder may not be diagnosed unless an X-ray is taken, usually for other purposes (e.g., back injury). (For more information on this disorder, choose "Spina Bifida" as your search term in the Rare Disease Database.) Therapies: Standard The appearance and recognition of surface lesions on the lower back at birth should lead to further testing for Tethered Spinal Cord Syndrome. Magnetic resonance imaging (MRI) is usually the technique of choice for identifying the tethered spinal cord. Pre-operative evaluation of potential sites of tethering, based on MRI findings, is very important for planning surgery. Removal of adhesions at the lower base of the spine through surgery is often recommended, and results are usually successful. Early management usually prevents neuromuscular, lower limb or urologic problems. It is usually best to treat the tethered cord before serious complications become apparent, as neurologic damage may not be reversible. In cases where surgical release of the tethered spinal cord is ineffective, a posterior rhizotomy, in which certain spinal nerve roots are severed, may be performed to relieve pain. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tethered Spinal Cord Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Spina Bifida Association of America 4590 Macarthur Blvd., NW, #250 Washington, DC 20007-4226 (202) 944-3285 (800) 621-3141 Spina Bifida Association of Canada 633 Wellington Crescent Winnepeg, Manitoba R3M 0A8 Canada International Federation for Hydrocephalus and Spina Bifida c/o RBU Gata 3 11138 Stockholm Sweden Contact: David Bagares References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Company, 1988. Pp. 550. UROLOGIC ASPECTS OF TETHERED CORD. R.C. Flanigan et al.; UROLOGY (January, 1989: issue 33 (1)). Pp. 80-82. DIAGNOSIS OF TETHERED CORDS BY MAGNETIC RESONANCE IMAGING. W.A. Hall et al.; SURG NEUROL (July, 1988; 30 (1)). Pp. 60-64. TETHERED CORD SYNDROME: A PEDIATRIC CASE STUDY. L. Greif et al.; J NEUROSCI NURS (April, 1989: issue 21 (2)). Pp. 86-91. LUMBAR CUTANEOUS HEMANGIOMAS AS INDICATORS OF TETHERED SPINAL CORDS. A.L. Albright et al.; PEDIATRICS (June, 1989: issue 83 (6)). Pp. 977-980. Tethered Spinal Cord Syndrome Dyspq! t!pagetitle 779: Tethered Spinal Cord Syndrome 04259.TXT %Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 438: Tetrahydrobiopterin Deficiency _________________________ ** IMPORTANT ** It is possible the main title of the article (Tetrahydrobiopterin Deficiencies) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Atypical Hyperphenylalaninemia Malignant Hyperphenylalaninemia BH4 Deficiency DISORDER SUBDIVISIONS Dihydrobiopterin Synthetase (DHBS) Deficiency Dihydropteridine Reductase (DHPR) Deficiency Guanosine Triphosphate-Cyclohydrolase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Hyperphenylalaninemia Phenylketonuria (PKU) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Tetrahydrobiopterin Deficiency is a rare genetic, neurological disorder present at birth. It is caused by an inborn error of metabolism. Tetrahydrobiopterin is a natural substance (coenzyme) that enhances the action of enzymes. When Tetrahydrobiopterin is deficient, an abnormally high blood level of the amino acid phenylalanine occurs and low levels of some neurotransmitters are found. To avoid irreversible neurological damage, diagnosis and treatment of this progressive disorder are essential early in life. Symptoms In general, symptoms of Tetrahydrobiopterin Deficiency usually include neurological problems, muscle tone and coordination abnormalities, seizures, and delayed motor development. When enzymes including dihydrobiopterin synthetase, guanosine triphosphate-cyclohydrolase or dihydropteridine reductase are deficient, abnormal metabolism of tetrahydrobiopterin (a coenzyme necessary for enzyme metabolism) occurs. Tetrahydrobiopterin is required for the proper activity of three enzymes. When it is deficient, high blood levels of the amino acid phenylalanine can occur, and low levels of brain neurotransmitters will be found. Elevation levels of phenylalanine may range from mild too severe. However, symptoms are unresponsive to a phenylalanine-restricted diet because of the deficiency of brain chemicals that transmit signals. In time, irreversible mental retardation will occur in the absence of appropriate treatment. Treatment of tetrahydrobiopterin deficiency can include replacement therapy with tetrahydrobiopterin and/or neurotransmitter precursors. Causes Tetrahydrobiopterin Deficiency are inherited as autosomal recessive traits. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Symptoms develop due to lack of enzyme activity leading to high blood levels of the amino acid phenylalanine and low levels of neurotransmitter chemicals which can cause brain damage. Affected Population Tetrahydrobiopterin Deficiency occurs worldwide and is estimated to affect one to three percent of infants diagnosed with high levels of the amino acid phenylalanine at birth. Phenylketonuria (PKU) occurs at a rate of 1 in 10 to 20 thousand live births in the United States. Tetrahydrobiopterin deficiency is very rare with less than 20 known patients identified in North America. Related Disorders Symptoms of the following disorders can be similar to those of Tetrahydrobiopterin Deficiency. Comparisons may be useful for a differential diagnosis: Hyperphenylalaninemia is identified by the presence of abnormally high blood levels of the amino acid phenylalanine in newborns. It may or may not be associated with elevated levels of another amino acid, tyrosine, in these children. This disorder may be a symptom of Phenylketonuria (PKU) or it can be linked with short term deficiencies of either phenylalanine hydroxylase or p-hydroxyphenylpyruvic acid oxidase. Phenylketonuria (PKU) is a hereditary metabolic disorder characterized by the inability to metabolize the amino acid phenylalanine. Uncontrolled accumulations of phenylalanine in the blood during childhood results in progressive, severe, irreversible mental retardation. A phenylalanine restricted diet can prevent brain damage if the disorder is identified early in infancy. Unlike PKU, a phenylalanine restricted diet does not prevent brain damage in patients with tetradydrobiopterin deficiency. (For more information on this disorder, choose "PKU" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Tetrahydrobiopterin Deficiency should be started as early as possible to avoid progression of complications such as brain damage. A low phenylalanine diet does not control the metabolic imbalance. However, this diet may be necessary to keep phenylalanine levels within normal range. As an alternative to the low phenylalanine diet, low doses of tetrahydrobiopterin (BH4) may normalize blood phenylalanine levels by restoring normal liver phenylalanine hydroxylase activity. Genetic counseling will be of benefit to patients and their families. Therapies: Investigational Treatments being tested for Tetrahydrobiopterin Deficiency include replacement of neurotransmitters such as L-dopa and 5-hydroxytryptophan administered in conjunction with an inhibitor of amino acid synthesis (decarboxylation). The long-term effects of high dosage tetrahydrobiopterin administration have not been established, although this therapy has shown dynamic improvement in some patients. Synthetic forms of tetrahydrobiopterin are also under study for use in treating this disorder. The long-term benefits of these therapies have not yet been established, but clinical research studies are being conducted to determine appropriate treatment and effectiveness. The Food and Drug Administration (FDA) has awarded a research grant to Joseph Muenzer, M.D., University of Michigan, Ann Arbor, MI, for studies on Tetrahydrobiopterin as a treatment for this disorder. For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tetrahydrobiopterin Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 National Association for Retarded Citizens of the U.S. P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 1-800-433-5255 National Institute on Mental Retardation York University Kinsmen MIMR Building 4700 Keele Street, Downview Toronto, Ont. M3J 1P3 Canada (416) 661-9611 Children's Brain Disease Foundation for Research 350 Parnassus, Suite 900 San Francisco, CA 94117 (415) 565-6259 (415) 566-5402 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References HYPERPHENYLALANINAEMIA DUE TO IMPAIRED DIHYDROBIOPTERIN BIOSYNTHESIS: LEUKOCYTE FUNCTION AND EFFECT OF TETRAHYDROBIOPTERIN THERAPY: K. Fukuda, et al.; J Inherited Metab Dis (1985, issue 8(2)). Pp. 49-52. HYPERPHENYLALANINAEMIA CAUSED BY DEFECTS IN BIOPTERIN METABOLISM: S. Kaufman; J Inherited Metab Dis (1985, issue Suppl 1). Pp. 20-27. DIFFERENTIAL DIAGNOSIS OF TETRAHYDROBIOPTERIN DEFICIENCY: A. Neiderweiser, et al.; J Inherited Metab Dis (1985, issue 8 Suppl 1). Pp. 34-38. Tetrahydrobiopterin Deficiency-& 0&pagetitle 438: Tetrahydrobiopterin Deficiency 04260.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 170: Tetralogy of Fallot _________________________ ** IMPORTANT ** It is possible that the main title of the article (Tetralogy of Fallot) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS Pseudotruncus Arteriosus Pink Tetralogy of Fallot, also known as Acyanotic Tetralogy of Fallot General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tetralogy of Fallot is a form of congenital heart disease. It consists of four defects. These defects are: 1. A ventricular septal defect 2. Obstructed outflow of the blood from the right ventricle to the lungs 3. A displaced aorta so that it receives blood from both the right and left ventricles 4. Enlargement of the right ventricle. In addition to poor oxygen saturation which is due to poor blood flow to the lungs, symptoms are similar to those of severe ventricular septal defects (please see Rare Disease Database article on Ventricular Septal Defects). The degree of obstruction of blood flow to the lungs determines the severity of this disorder. Untreated Tetralogy of Fallot sometimes progresses becoming more severe as the child grows. In particular, the lungs can be permanently damaged by the abnormal pulmonary blood pressures generated by the ventricular septal defect. The patterns and quality of the sounds of the beating heart, electrocardiographic (EKG) and echocardiographic findings, and information from cardiac catheterization aid in diagnosis and therapy. Symptoms Infants with Tetralogy of Fallot show symptoms from birth or within the first year of life. They may not feed well often due to excessive fatigue; they gain weight slowly and grow poorly. With exertion, the children have severe, potentially life threatening attacks of breathlessness and hypoxia (lack of oxygen); they may assume a characteristic squatting posture which seems to help them to breathe somewhat during these episodes. Other signs of insufficient oxygen delivery to the tissues include cyanosis (a bluish coloration of the skin), clubbing of the finger tips, proliferation of red blood cells. A characteristic shape of the heart is usually visible on x-rays. In general the symptoms associated with large ventricular defects consist of poor delivery of oxygen and congestive heart failure, characterized by swelling and fluid retention in the lungs and body. Rapid, "ineffectual", heartbeat and great difficulty breathing may also be present. (Please see article on Ventricular Septal Defects for a more complete discussion of the normal heart and the symptoms associated with large ventricular defects.) The displacement of the aorta, the large artery leaving the heart and branching into all the other arteries serving the body, also causes oxygen unsaturated blood to reach the tissues. Impaired outflow from the right ventricle usually results from an obstruction of the valve between the heart and the pulmonary artery, or from a narrowing of the channel at the top of right ventricle through which the blood passes to the pulmonary valve. When these obstructions are severe, the disorder is sometimes known as Pseudotruncus Arteriosus rather than Tetralogy of Fallot. Blood flow to the lung is reduced and a large fraction of the deoxygenated venous blood from the systemic veins moves almost directly into the aorta and back into the systemic circulation. The hypertrophy (enlargement) of the right ventricle is associated with the inability of the blood to pass easily into the pulmonary artery. Heart defects seem to predispose patients to respiratory infections and bacterial infection of the inner lining of the heart (bacterial endocarditis). Bacterial endocarditis seems to occur more often with small or moderates sized septal defects. These infections should be avoided, particularly since resulting damage is likely to worsen the patient's condition. Other complications of this kind of congenital heart disease include iron deficiency anemia, coagulation defects, a susceptibility to embolisms in the systemic circulation and to cerebral infarctions (destruction of tissue due to interrupted circulation) and abscesses. Causes The causes of the arrest in embryonic development resulting in congenital heart disease are poorly understood. In general, only about 10% of the cases appear to be hereditary, although this seems to be higher in Tetralogy of Fallot. Maternal rubella (measles), alcoholism, or diabetes are sometimes associated with heart defects. Ostium primum defects often occur in individuals with Down's Syndrome and certain other chromosomal abnormalities. Affected Population About 1% of live births have some kind of congenital heart defect; of these, about 10 % have Tetralogy of Fallot. Males are affected more often than females. Related Disorders Other congenital heart defects include atrial and isolated ventricular septal defects, valve defects of various kinds, malformations of the large vessels entering and leaving the heart, and anomalous positions of the heart in the chest. Therapies: Standard The definitive treatment for Tetralogy of Fallot is surgical. Total correction of the defects is best delayed until later in childhood, preferably around the age of 4 or 5 years. Intermediate, palliative measures that can be taken in infancy or early childhood include anastomosis of the aorta or the subclavian artery and the pulmonary artery. Presurgical, palliative treatment includes medication such as digitalis to treat arrhythmias, excessively rapid heart beat, and heart failure. Sodium restriction, diuretics and rest are also effective in treating congestive heart failure. Respiratory infections are treated vigorously, and antibiotics are given prophylactically with such procedures as tooth extractions to reduce the risk of developing bacterial endocarditis. Severe hypoxic spells may require the administration of oxygen, morphine and other drugs to improve oxygen concentration. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tetralogy of Fallot, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Avenue Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 American Lung Association 1740 Broadway New York, NY 10019 (212)315-8700 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References Petersdorf, Robert G., et al, editors, Harrison's Principles of Internal Medicine, tenth edition. New York: McGraw-Hill 1983, pp. 1383-96. Tetralogy of Fallot em. G J pagetitle 170: Tetralogy of Fallot 04261.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 796: Thalamic Syndrome (Dejerine-Roussy) _________________________ ** IMPORTANT ** It is possible that the main title of the article (Thalamic Syndrome (Dejerine-Roussy)) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dejerine-Roussy Syndrome Posterior Thalamic Syndrome Retrolenticular Syndrome Thalamic Hyperesthetic Anesthesia Thalamic Pain Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Reflex Sympathetic Dystrophy Syndrome (RSDS) Guillain-Barre Syndrome Carpal Tunnel Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Thalamic Syndrome (Dejerine-Roussy) is a rare neurological disorder which occurs as a result of damage to the thalamus (a part of the brain which can affect sensation). Primary symptoms are pain and loss of sensation usually in the face, arm, or leg. Symptoms Thalamic Syndrome (Dejerine-Roussy) is characterized by pain and loss of sensation. Some of the body may be affected, or one half of the body, usually the face, arm, or leg. All types of sensations can be affected including touch, pain, and awareness of temperature. There may also be pain in the affected part of the body which may increase with stimulation. For example, being touched, or being exposed to cold temperatures may cause spontaneous pain. Taste may be affected; food and drink may have an unusual or different flavor. A slow tremor of the hand, arm, foot, or leg which increases when the patient attempts to voluntarily move the limb (intention tremor) may be apparent. Hand spasms may also occur. Mild muscular weakness or partial paralysis limited to one side of the body (hemiparesis) may be another symptom. The patient may experience a disagreeable sensation or strong pain in response to touch which, under normal conditions, would not be uncomfortable (hyperpathia). He or she may, at first, have trouble feeling a touch sensation (dysesthesia) and the threshold for pain may be raised; however, once the level of pain that he or she can accept is exceeded, there is an over-reaction to the pain (hyperresponsiveness). The patient may not have a sense of what position the affected part of the body is in. Emotional over-reactions may occur. Causes Thalamic Syndrome (Dejerine-Roussy) stems from damage to the thalamus, usually appearing 4 to 6 weeks after the damage has occurred. Symptoms appear when there is loss of nerve cells in the back part of the thalamus. The thalamus is a part of the brain that acts as a coordinating center for nerve impulses from all the senses, relaying them to appropriate areas in the rest of the brain where they are then consciously perceived. The loss of nerve cells may be due to blockage in blood circulation caused by a blood clot, or by an abnormal particle such as an air bubble circulating in the blood (embolus). It may also be due to a small lesion or a tumor in the thalamus. When one side of the thalamus is damaged, some or all of the opposite side of the body (face, arm, leg) may be abnormally sensitive to all types of stimuli such as touch (contralateral hypersensitivity). This may cause pain in the areas where there is a loss of sensation (anesthesia dolorosa). Affected Population Thalamic Syndrome (Dejerine-Roussy) is a rare disorder that affects males and females in equal numbers. Related Disorders Reflex Sympathetic Dystrophy Syndrome (RSDS) is a term encompassing a group of chronic pain syndromes. Symptoms include severe pain and alternating constriction and dilation of blood vessels after trauma, often minor in nature. Other cases of RSDS can begin without apparent cause. Symptoms can become chronic if treatment is not begun as soon as possible after diagnosis. However, diagnosis and treatment are difficult due to the wide variety of body areas which can be affected. Also, RSDS can easily be misdiagnosed as a nerve injury which is characterized by similar painful symptoms. (For more information on this disorder, choose "RSDS" as your search term in the Rare Disease Database). Guillain-Barre Syndrome occurs when the body's defense system against disease (e.g., antibodies or lymphocytes) attacks the nerves, damaging the nerve's myelin and axon. Nerve signals are delayed and altered, causing weakness and paralysis of the muscles of the legs, arms, and other parts of the body along with abnormal sensations. (For more information on this disorder, choose "Guillain-Barre" as your search term in the Rare Disease Database). Major symptoms of Carpal Tunnel Syndrome include a sensation of numbness, tingling, burning and/or slight pain in the hand and wrist. This sensation can be temporary at first, later becoming chronic. It can cause patients to awaken during the night. Left untreated, muscle atrophy in the hand may develop. Symptoms may become worse with activities that require wrist flexing or prolonged gripping such as hammering or driving for long periods of time. Carpal Tunnel Syndrome is a very prevalent disorder that can be treated through weight loss, hand splints or surgery. (For more information on this disorder, choose "Carpal Tunnel" as your search term in the Rare Disease Database). Therapies: Standard In Thalamic Syndrome (Dejerine-Roussy) surgical lesions can interrupt the sensory pathway of the brain and may help decrease the pain without affecting sensory ability. Patients may be able to experience touch without feeling pain or discomfort after surgical treatment. Therapies: Investigational This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Thalamic Syndrome (Dejerine-Roussy Syndrome), please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2128-2129. BRAIN GLUCOSE METABOLISM IN THALAMIC SYNDROME. E. C. Laterre, et al.; J Neurol Neurosurg Psychiatry (March 1988; issue 51 (3)). Pp. 427-428. THALAMIC PAIN SYNDROME OF DEJERINE-ROUSSY. F. Mauguiere and J. E Desmedt; Arch Neurol (December 1988; issue 45 (12)). Pp. 1312-1320. Thalamic Syndrome (Dejerine-Roussy) pagetitle 796: Thalamic Syndrome (Dejerine-Roussy) 04262.TXT ,Copyright (C) 1986, 1987, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 71: Thalassemia Major, mediterranean anemia, cooley's anemia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Thalassemia Major) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Cooley's Anemia Mediterranean Anemia Target Cell Anemia Beta Thalassemia Major Erythroblastotic Anemia of Childhood Thalassemia Hereditary Leptocytosis Hemoglobin Lepore Syndromes Microcythemia Information on the following diseases can be found in the Related Disorders section of this report: Thalassemia Minor Hereditary Spherocytic Hemolytic Anemia Anemias (General) General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Thalassemia Major is a rare blood disorder characterized by a marked increase in F hemoglobin and a decrease in the production of certain oxygen carrying proteins in red blood cells (beta polypeptide chains in the hemoglobin molecule). Thalassemia Major is the most severe form of chronic familial anemias that result from the premature destruction of red blood cells (hemolytic). This disease was originally found in people living near the Mediterranean Sea. People with this disorder also have a reduced number of circulating red blood cells (erythrocytes). Symptoms The symptoms of Thalassemia Major typically occur very suddenly in infancy or early childhood. These may include generalized weakness (malaise), an upset stomach (dyspepsia), and/or heart palpitations. Patients may have a yellow appearance to their skin (jaundice), leg ulcers, an abnormally enlarged liver (hepatomegaly), an abnormally enlarged spleen (splenomegaly), the presence of stones in the gall bladder (cholelithiasis), and/or an enlarged abdomen. Abnormally overactive bone marrow growth may result in a thickened skull (cranial bones) and prominent cheek bones. Thalassemia Major can cause the loss of bone (osteoporosis) in the long bones of the body; fractures are common because bones become fragile. People with this disorder may be underdeveloped for their age and short in stature. Excess iron deposits in the heart muscle can cause heart abnormalities and eventual cardiac failure. People with Thalassemia Major may also experience mental deterioration. They are prone to repeated infections which can cause additional problems. Causes Thalassemia Major is inherited as an autosomal recessive genetic trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. The gene that causes Thalassemia Major is located on the short arm of chromosome 11. People who have both of the pair of genes (homozygous) that cause Thalassemia Major have more severe symptoms than those people who have only one of the pair of genes (heterozygous) that causes the disease. This disorder is more common in families who intermarry and in those whose parents both have a gene for Thalassemia Minor. (For more information, choose "Thalassemia Minor" as your search term in the Rare Disease Database.) Affected Population Thalassemia Major is a rare disorder that most commonly occurs in people of Mediterranean heritage, especially Italians and Greeks. It is also common in an area that extends from northern Africa and southern Europe to Thailand, including Iran, Iraq, Indonesia, and southern China. This disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Thalassemia Major. Comparisons may be useful for a differential diagnosis: Thalassemia Minor is a relatively mild form of anemia that is typically present at birth. It is inherited as an autosomal recessive genetic trait. Constant fatigue may be the only symptom of this disorder. However, if anemia becomes severe, the spleen may become slightly enlarged (splenomegaly) and there may be a pale color to the skin. Occasionally a child with Thalassemia Minor may complain of pain in the left upper side of the abdomen. This disorder may be aggravated by stress, infections, malnutrition, and/or pregnancy. (For more information on this disorder, choose "Thalassemia Minor" as your search term in the Rare Disease Database). Hereditary Spherocytic Hemolytic Anemia is a rare inherited blood disorder characterized by the presence of sphere-shaped red blood cells. These cells have difficulty circulating through the spleen resulting in the destruction of red blood cells. The symptoms of Hereditary Spherocytic Hemolytic Anemia may be present at birth or not be apparent for years, and in many people the disease may be so mild that it is not diagnosed. Symptoms may include fatigue and a yellow (jaundice) appearance to the skin. Generally the spleen is enlarged resulting in abdominal discomfort. An infection is the most common trigger of an anemic crisis. Trauma or pregnancy may also cause an anemic crisis. The child may experience fever, headache, loss of appetite, vomiting, leg sores, and/or general weakness. (For more information on this disorder, choose "Hereditary Spherocytic Hemolytic Anemia" as your search term in the Rare Disease Database.) Other types of anemias include: Aplastic Anemia; Hereditary Non-Spherocytic Hemolytic Anemia; Megaloblastic Anemia; Warm Antibody Hemolytic Anemia; Cold Antibody Hemolytic Anemia; Acquired Autoimmune Hemolytic Anemia; Pernicious Anemia; Folic Acid Deficiency Anemia; Blackfan-Diamond Anemia; and Fanconi's Anemia. (For information on other types of Anemias, choose "Anemia" as your search term in the Rare Disease Database.) Therapies: Standard A person with Thalassemia Major has severe anemia. Chronic blood transfusions may be necessary in severely affected patients to maintain the levels of hemoglobin in the red blood cells (above 10 gm percent) and to allow for normal growth. Without treatment, Thalassemia Major can be life-threatening. Since iron overload is a possibility due to repeated blood transfusions, children should be given as few transfusions as possible. Daily treatment with the drug deferroxamine is necessary to avoid severe iron overload. Removal of the spleen (splenectomy) may help patients with an abnormally enlarged spleen. This surgery reduces the number of blood transfusions that may otherwise be required. Genetic counseling will be of benefit for patients with Thalassemia Major and their families. Genetic tests are available to determine if a person is a carrier of the gene, and prenatal tests can identify an affected fetus. Therapies: Investigational The orphan drugs arginine butyrate and isobutyramide are being studied as possible treatments for Thalassemia Major. Additional study is needed to determine the long-term safety and effectiveness of these drugs. For more information, patients may have their physicians contact: Dr. Susan P. Perrine Children's Hospital Oakland Institute 747 52nd Street Oakland, CA 94609 The orphan drug Sodium Phenylbutyrate is being developed for the treatment of Thalassemia Major and other diseases that involve the abnormal formation of red blood cells (sickling diseases). For more information, patients may have their physicians contact: Saul Brusilow, M.D. 301 Children's Medical and Surgical Center John Hopkins Hospital 600 North Wolfe Street Baltimore, MD 21205 (310) 955-0885 Clinical trials for the treatment of Thalassemia Major are being conducted on several compounds that bind to iron (chelating agents) for the treatment of Thalassemia Major. Bone marrow transplantation is another treatment under investigation for the treatment of people with Thalassemia Major. For additional information, patients may have their physicians contact: NIH/National Institute of Diabetes, Digestive and Kidney Diseases (NIDDK) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-3583 This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Thalassemia Major, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Association for Sickle Cell Disease Inc. 3460 Wilshire Blvd., Suite 1012 Los Angeles, CA 96010 (800) 421-8453 (213) 731-1166 Cooley's Anemia Foundation, Inc. 105 East 22nd St. New York, NY 10010 (212) 598-0911 (800) 522-7222 (New York state) (800) 221-3571 (all other states) NIH/National Heart, Lung, and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1069. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 883-84. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 1172, 1174. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 510-534. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1658-1661. MANAGEMENT OF THALASSEMIA MAJOR (COOLEY'S ANEMIA). S. Piomelli; Hematol Oncol Clin North Am (Jun 1991; 5(3)). Pp. 557-69. BETA-THALASSEMIA MAJOR AND SICKLE CELL DISEASE. R.B. Butler; NAACOGS Clin Issu Perinat Womens Health Nurs (1991; 2(3)). Pp. 349-356. Thalassemia Major, mediterranean anemia, cooley's...emia .pagetitle 71: Thalassemia Major, mediterranean anemia, cooley's anemia 04263.TXT Copyright (C) 1986, 1989, 1992, 1993 National Organization for Rare Disorders, Inc. 72: Thalassemia Minor _________________________ ** IMPORTANT ** It is possible that the main title of the article (Thalassemia Minor) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Beta Thalassemia Minor Hereditary Leptocytosis Heterozygous Beta Thalassemia Thalassemia Information on the following diseases can be found in the Related Disorders section of this report: Sideroblastic Anemia Sickle Cell Disease General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Thalassemia Minor is a rare blood disorder characterized by a moderately low level of hemoglobin in red blood cells (anemia). This disorder is inherited. People with Thalassemia Minor have one of a pair (heterozygous) of the thalassemia gene. If a person has two copies of the gene, they will have Thalassemia Major which is a more serious disease. Symptoms The only symptom of Thalassemia Minor may be persistent fatigue. However, if the levels of hemoglobin in the red blood cells (which carry oxygen) are very low (anemia), then the individual may become pale and have slight enlargement of the spleen (splenomegaly). Some people with Thalassemia Minor may also experience pain in the upper left side of the abdomen. The symptoms of Thalassemia Minor may become worse when the patient is under stress, suffers infections or malnutrition, or is pregnant. The life span of people with this disorder is normal. Causes Thalassemia Minor is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In Thalassemia Minor a person inherits only one of the Thalassemia genes, so they get a less serious form of Thalassemia than those who inherit both genes (Thalassemia Major). Affected Population Thalassemia Minor is a rare inherited blood disorder that affects males and females in equal numbers. This disorder most commonly occurs in people of Mediterranean or southern Chinese descent. Thalassemia Minor occurs in as many as 1 in 5 people of certain Italian populations. Related Disorders Symptoms of the following disorders can be similar to those of Thalassemia Minor. Comparisons may be useful for a differential diagnosis: Sideroblastic Anemia is a rare blood disorder characterized by low levels of hemoglobin due to the ineffective use of iron. The symptoms of this disorder typically include fatigue, weakness, and difficulty breathing. Physical exertion may also cause chest pains. This disorder is diagnosed by a blood test that reveals abnormal red blood cells known as sideroblasts. (For more information, choose "Sideroblastic Anemia" as your search term in the Rare Disease Database.) Sickle Cell Disease is a group of inherited blood diseases characterized by the presence of abnormal crescent-shaped red blood cells and low levels of hemoglobin (anemia). Symptoms may include fatigue, respiratory infections, irritability, enlarged spleen, and/or sudden acute attacks of pain particularly in the chest. Other symptoms may include an enlargement of the liver, and/or painful inflammation of the fingers and/or toes. (For more information, choose "Sickle Cell" as your search term in the Rare Disease Database.) There are many other varieties of Anemias that have symptoms that are similar to those of Thalassemia Minor. Generally, a blood test is required to distinguish one form of anemia from the other. (For more information, choose "Anemia" as your search term in the Rare Disease Database.) Therapies: Standard Treatment for Thalassemia Minor is generally not necessary. This disorder does not respond to iron therapy. Prolonged use of iron may lead to excessive iron storage in body tissues. Pregnant women with Thalassemia Minor may require blood transfusions to maintain appropriate hemoglobin levels. Genetic counseling will be of benefit for people with Thalassemia Minor and their families. Therapies: Investigational The orphan drug sodium phenylbutyrate is being studied for the treatment of various blood disorders including Thalassemia Minor. For more information on this drug, patients may have their physicians contact: Dr. Saul Brusilow John Hopkins Hospital, 600 Wolfe Street Baltimore, MD 21205 (310) 955-0885 This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Thalassemia Minor, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Association for Sickle Cell Disease Inc. 3460 Wilshire Blvd., Suite 1012 Los Angeles, CA 96010 (800) 421-8453 (213) 731-1166 Cooley's Anemia Foundation, Inc. 105 East 22nd St. New York, NY 10010 (212) 598-0911 (800) 522-7222 (New York state) (800) 221-3571 (all other states) NIH/National Heart, Lung and Blood Institute (NHBLI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 496. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 883. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 1172. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 492-493, 511. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1659-1661. NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman et al; W.B. Saunders Co., 1992. Pp. 1516-1516. Thalassemia Minor pagetitle 72: Thalassemia Minor 04264.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 372: Thomsen Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Thomsen Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Myotonia Congenita Myotonia Hereditaria Ataxia Muscularis Myotonia Dystrophica Thomsen-Becker Myotonia Information on the following diseases can be found in the Related Disorders section of this report: Myotonic Dystrophy Schwartz-Jampel Syndrome, also known as Chondrodystrophic Myotonia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Thomsen Disease is a rare inherited neuromuscular disorder that usually begins early in life. Difficulty in initiating movement combined with slowness of muscle relaxation are the primary symptoms. Muscle stiffness of the entire body may also occur since this disorder involves the entire muscle system. Thomsen Disease is generally a nonprogressive disorder. Symptoms People with Thomsen Disease experience spasms or rigidity when an attempt is made to move muscles after a period of rest, or when the muscles are mechanically stimulated. Contraction of muscles may persist thirty seconds or more after mechanical stimulation. The stiffness usually disappears as the muscles are used. Symptoms may involve the muscles of the entire body. Slowness in chewing, swallowing, talking, and walking can occur. Causes Thomsen Disease is inherited as an autosomal dominant trait. Medical researchers believe that excess production of a nerve transmitting substance (acetylcholine) at locations where nerves connect to muscles (neuromuscular junctions) can cause this disorder. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Affected Population Thomsen Disease usually begins at birth or shortly after. Rarely, it may suddenly begin at puberty but does not seem to start thereafter. It appears to affect males more often than females. Related Disorders Myotonic Dystrophy is an inherited neuromuscular disorder involving the muscles, vision, endocrine glands, possible mental deficiency and loss of hair. This rare disorder occurs in men and women equally with onset commonly during young adulthood. However, it can occur at any age and is extremely variable in degree of severity. (For more information on this disorder, choose "Myotonic Dystrophy" as your search term in the Rare Disease Database). Schwartz-Jampel Syndrome, also known as Chondrodystrophic Myotonia, involves delays in normal muscle growth usually beginning in early infancy. Thereafter, muscles may fail to keep pace with the patient's growth. Therapies: Standard The antiarrythmic drug Tocainide is often used as a treatment for Thomsen Disease. However, careful monitoring of the dosages and the patient's heart function is important while taking this drug. Thomsen Disease patients usually do not respond to physical therapy because of the weakness of the muscles, but in some cases active and passive exercises may be helpful. Agencies which provide services to handicapped people and their families may be of benefit. Genetic counseling can be useful for families affected by this disorder. Other treatment is symptomatic and supportive. Therapies: Investigational Treatment of Thomsen Disease using the experimental antimyotonic drug mexiletine may improve muscle weakness in some patients. The use of this treatment is still under investigation to determine it's long-term effectiveness and possible side effects. This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Thomsen Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SUCCESSFUL TREATMENT WITH TOCAINIDE OF RECESSIVE GENERALIZED CONGENITAL MYOTONIA: E.W. Streib; Ann Neurol (May 1986, issue 19(5)). Pp. 501-504. VALUE OF MEXILETINE IN THE TREATMENT OF THOMSEN-BECKER MYOTONIA: F. Himon, et. al.; Arch Fr Pediatr (Jan. 1986, issue 43(1)). Pp. 49-50. Thomsen Disease da, C pagetitle 372: Thomsen Disease 04265.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 156: Thrombasthenia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Thrombasthenia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Glanzmann Disease Glanzmann-Naegeli Syndrome Diacyclothrombopathia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Thrombasthenia is a hereditary disorder of blood coagulation due to defects in the functioning of platelets, blood elements important in clotting after injuries. Several different genetic abnormalities may cause the disease. Thrombasthenia is not progressive; in fact, the condition seems to improve with age. Prolonged episodes of bleeding can, however, be life-threatening if not successfully treated. Symptoms Thrombasthenia manifests itself at birth or shortly thereafter. Affected individuals tend to bleed easily and profusely, particularly after injuries and during surgery. They are susceptible to bruises and large purplish areas on the skin due to tiny spots of subcutaneous bleeding. Nosebleeds, unusually heavy menstrual flow, or irregular uterine bleeding may also be present. Severity varies from one individual to the next. Laboratory investigations reveal abnormalities in the appearance and biochemical reactions of the platelets. They fail to aggregate normally, and retraction of clots is also abnormal. Causes Thrombasthenia may be inherited either through autosomal dominant or recessive mechanisms. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Four different genetic abnormalities that are associated with thrombasthenia have been found so far. Related Disorders Other disorders of platelet function include Bernard-Soulier Syndrome, May-Hegglin Syndrome, Chediak-Higashi Syndrome, the Gray Platelet Syndrome, and various defects of collagen induced platelet aggregation. Platelet disorders are also associated with congenital conditions such as Wiskott-Aldrich Syndrome, Down's Syndrome, Thrombocytopenia with Absent Radius syndrome, and von Willebrand's Disease. Therapies: Standard The only known therapy for Thrombasthenia is the transfusion of fresh blood from a normal donor when bleeding is severe. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Thrombasthenia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1164. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1056-7. Thrombasthenia pagetitle 156: Thrombasthenia 04266.TXT Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc. 577: Thrombocythemia, Essential _________________________ ** IMPORTANT ** It is possible that the main title of the article (Essential Thrombocythemia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms ET Essential Thrombocytosis Idiopathic Thrombocythemia Primary Thrombocythemia Essential hemorrhagic Thrombocythemia Information on the following diseases can be found in the Related Disorders section of this report: Myelogenous Leukemia Myeloid Metaplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Essential Thrombocythemia is a rare disorder of blood platelet production. Major symptoms may include overproduction of platelets in the bone marrow, accompanied by active bleeding or an enlarged spleen (splenomegaly). Symptoms Essential Thrombocythemia is characterized by excessive amounts of platelet formation in the bone marrow. This may result in active bleeding or blood clots (thrombosis). Other abnormalities in the bone marrow cells or chromosomes (cytogenetic) may occur in connection with this disorder. This disease may evolve with time into a more serious type of blood disease. Causes The exact cause of Essential Thrombocythemia is not known. In some cases it may be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. (In autosomal dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) Affected Population Essential Thrombocythemia is a very rare blood disease which affects males and females in equal numbers. Although symptoms usually begin during the fifth or sixth decade of life this disorder may develop at any age. Related Disorders Thrombocytopenia may occur as part of polycythemia vera, chronic myelogenous leukemia, or myeloid metaplasia. Symptoms of the following disorders can be similar to those of Essential Thrombocythemia. Comparisons may be useful for a differential diagnosis: Myelogenous Leukemia is a form of blood cancer. Myeloid Metaplasia is a syndrome characterized by anemia, enlargement of the spleen, nucleated red blood cells and immature granulocytes in the circulating blood. If it occurs in persons who have another disease it is termed secondary or symptomatic myeloid. When it occurs as a single illness it is termed primary or agnogenic myeloid metaplasia, myelofibrosis, or myelosclerosis, because of an associated fibrosis of the bone marrow. The condition may also develop in the course of red blood cell disease such as polycythemia rubra vera. There is a high incidence of development of myeloid leukemia in this form of the illness. Therapies: Standard Treatment of Essential Thrombocythemia usually involves the use of drugs which suppress the development of blood cells in the bone marrow (myelosuppressive agents) such as the drugs 32/P, Hydroxyurea, Melphalan or Busulfan. These drugs are usually effective in reducing the number of platelets in the bone marrow. Genetic counseling may be of benefit for patients and their families when they have the genetic form of the illness. Other treatment is symptomatic and supportive. Therapies: Investigational Essential Thrombocythemia is being treated experimentally with the orphan drug, anagrelide. For more information on this drug physicians can contact: Roberts Pharmaceutical Corp. Meridian Center III 6 Industrial Way West Eatontown, NJ 07724 (908) 389-1182 Another experimental therapy in use is plateletpheresis which involves the removal of blood platelets. More research is necessary to determine long term safety and effectiveness of this treatment. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Essential Thrombocythemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Myeloproliferative Research Center, Inc. 2220 Tiemann Ave. Baychester, NY 10469 (718) 231-0270 (800) MPD-HELP NIH/National Heart, Blood, & Lung Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.712. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1079-1086. ESSENTIAL THROMBOCYTHEMIAS. CLINICAL EVOLUTIONARY AND BIOLOGICAL DATA. S. Bellucci, et al., Cancer (December, 1986, issue 58 (11)). Pp. 2440-2447. ESSENTIAL THROMBOCYTHEMIA AND LEUKEMIC TRANSFORMATION. S. M. Sedlacek, et al., Medicine (Baltimore) (November, 1986, issue 65 (6)). Pp. 353-364. CLINICAL PRESENTATION AND NATURAL HISTORY OF PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA AND THE PHILADELPHIA CHROMOSOME. D.B. Stoll, et al., Am J Hematol (February, 1988, issue 27(2)). Pp. 77-83. Thrombocythemia, Essential pagetitle 577: Thrombocythemia, Essential 04235.TXT #Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 402: Stenosis, Spinal _________________________ ** IMPORTANT ** It is possible that the main title of the article (Spinal Stenosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lumbar Spinal Stenosis Degenerative Lumbar Spinal Stenosis Familial Lumbar Stenosis Stenosis of the Lumbar Vertebral Canal Lumbar Canal Stenosis Lumbosacral Spinal Stenosis Thoracic Spinal Canal Stenosis Cervical Spinal Stenosis Tandem Spinal Stenosis Information on the following diseases can be found in the Related Disorders section of this report: Sciatica Paget's Disease Amyotrophic Lateral Sclerosis Cauda Equina Syndrome Herniated Intervertebral Lumbar disk General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Spinal Stenosis is characterized by measurable constriction, compression or narrowing of space inside the spinal canal, nerve root canals, or vertebrae which contains nerves and blood vessels. This condition can affect limited areas of the spine. Constriction may or may not continue to progress. In other cases, symptoms may begin as a result of spinal injury or surgery for spinal disk problems. Abnormal bone growth or deterioration can cause narrowing of the spinal canal. Nerve and blood vessel compression, intermittent limping or problems with walking, and/or urinary incontinence can occur. Pain, numbness or burning sensations may occur in the lower back or legs. Temporary paralysis of the legs can also develop. Symptoms Spinal Stenosis is characterized by narrowing of the space occupied by nerves and blood vessels inside the spinal canal or vertebrae. It can be marked by abnormal bone growth or deterioration. Nerve and blood vessel compression can lead to problems with walking, intermittent limping, urinary incontinence, temporary paralysis of the legs, and pain or burning sensations in the lower back and legs. This disorder tends to occur most often among middle aged or elderly persons although it can be present at birth. Causes Spinal Stenosis may be inherited in some cases as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Spinal Stenosis tends to affect males more often than females, and is usually found among middle aged or elderly persons. Persons engaging in extremely rough contact sports with a high possibility of sustaining back injuries (such as football or hockey) may have more occurrences than that of the general population. Related Disorders Symptoms of the following disorders can be similar to those of Spinal Stenosis. Comparisons may be useful for a differential diagnosis: Sciatica is a sciatic nerve root disease that causes very severe pain. It may occur alone or in combination with other conditions. Sciatica is characterized by pain radiating down one or both buttocks and/or legs in the distribution of the sciatic nerve. Sciatica can be caused by peripheral nerve root compression from spinal disk abnormalities, tumors, or rarely from infection. The nerves may be compressed inside the spinal canal, pelvis or buttocks. Toxic inflammation (usually caused by Diabetes or alcoholism) may also cause this type of nerve pain in rare cases. Paget's Disease is a slowly progressive disease of the skeletal system characterized by abnormally rapid bone breakdown and formation, leading to the development of bones that are dense but fragile. It usually affects middle-aged and elderly people and most frequently occurs in the spine, skull, pelvis, thighs and lower legs. When the spine is affected, symptoms can resemble those of Spinal Stenosis. (For more information on this disorder, choose "Paget" as your search term in the Rare Disease Database). Cauda Equina Syndrome is characterized by dull pain in the lower back (upper sacral) region with loss of sensation in buttocks, genitalia, or thighs. Bowel and bladder function are disturbed. This is caused by compression of the bundle of spinal nerve roots (cauda equina) below the first lumbar vertebra. Surgical decompression can be successful in alleviating symptoms. A Herniated Intervertebral Lumbar ("slipped") Disk refers to an abnormal protrusion into the spinal canal of the fibrous tissue (spinal disk) that acts as a shock absorber between bony vertebrae. The disk does not actually move, but rather swells outward. The protruded disk can compress the space in the spinal canal and cause nerve injury and pain. This condition is very common, and occasionally may require correction by surgery. The following disorder may precede the development of Spinal Stenosis. This can be useful in identifying an underlying cause of some forms of this disorder: Achondroplasia is an inherited skeletal disorder which is one of a group of congenital disorders known as the chondrodystrophies. These diseases are marked by abnormalities in the way cartilage is converted to bone. Skeletal deformities and dwarfism occur as a result of growth abnormalities in the bone and cartilage. In some cases, the bones and cartilage of the spine are affected causing narrowing in the intervertebral canal or Spinal Stenosis. (For more information on this disorder, choose "Achondroplasia" as your search term in the Rare Disease Database). Therapies: Standard Diagnosis of Spinal Stenosis involves the use of imaging procedures such as magnetic resonance imaging (MRI), Computerized Tomography (CT) scan, myelography, and/or intraoperative spinal sonography (IOSS). Surgery to decompress the spinal canal may be helpful. Other treatment is symptomatic and supportive. Therapies: Investigational Internal Spinal Fixation devices are being tested for some cases of Spinal Stenosis. These devices seek to alleviate pressure on nerves or blood vessels in the spinal canal by mechanically changing the position of some of the bony vertebral sections. More research is required to determine complete long-term effectiveness of these devices. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Spinal Stenosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Scoliosis Foundation, Inc. 72 Mount Auburn St. Watertown, MA 02172 (617) 926-0397 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 465. SURGICAL MANAGEMENT OF LUMBAR SPINAL STENOSIS: R.J. Nasca; Spine (October 1987, issue 12(8)). Pp. 809-816. LUMBAR HERNIATED DISK DISEASE AND CANAL STENOSIS: PROSPECTIVE EVALUATION BY SURFACE COIL MR, CT, AND MYELOGRAPHY: M.T. Modic, et al.; AJR (October 1986, issue 147(4)). Pp. 757-765. TANDEM LUMBAR AND CERVICAL SPINAL STENOSIS. NATURAL HISTORY, PROGNOSTIC INDICES, AND RESULTS AFTER SURGICAL DECOMPRESSION: T.F. Dagi, et al.; J Neurosurg (June 1987, issue 66(6)). Pp. 842-849. CAUDA EQUINA SYNDROME: A COMPLICATION OF LUMBAR DISCECTOMY: A.C. McLaren, et al.; Clin Orthop (March 1986, issue 204). Pp. 143-149. THORACIC SPINAL CANAL STENOSIS: G.H. Barnett, et al.; J Neurosurg (March 1987, issue 66(3)). Pp. 338-344. INTERPEDUNCULAR SEGMENTAL FIXATION: E. Luque; Clin Orthop (February 1986, issue 203). Pp. 54-57. Stenosis, Spinal %pagetitle 402: Stenosis, Spinal 04236.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 295: Stevens-Johnson Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Stevens-Johnson Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Erythema Multiforme Exudativum Ectodermosis Erosiva Pluriorificialis Johnson-Stevens disease Febrile Mucocutaneous Syndrome Herpes Iris Dermatostomatitis Erythema Polymorphe General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Stevens-Johnson syndrome is a severe form of Erythema Multiforme characterized by blistery lesions on the mucous membranes of the mouth, throat, anogenital region, eyelids and corneal lining (conjunctiva). Symptoms Stevens-Johnson syndrome is characterized by blistery eruptions on the mucous membranes of the mouth, throat, anogenital region, intestinal tract and eyelid lining (conjunctiva). Typical Erythema Multiforme lesions may or may not be present elsewhere on the skin. The patient with Stevens-Johnson syndrome may be unable to eat or close his/her mouth properly. Drooling may occur as a result. Eyes may become painful and inflammation of the eyelids (conjunctivitis) with swelling and pus may cause great discomfort. Untreated, the conjunctival lesions may leave residual corneal scarring, which sometimes may cause blindness. A patchy pneumonia is often present in the lungs. There may also be symptoms of joint inflammation and general fatigue. Causes 1. In about 50% of cases no cause can be found for Stevens-Johnson syndrome. 2. In children and young adults, infections caused by herpes simplex virus are the most common cause. Additionally, coxsackie- and echoviruses, Mycoplasma pneumonia, psittacosis, histioplasmosis, and Vaccinia, Bacillus Calmette-Guerin, and poliomyelitis vaccines have been identified as causes of Stevens-Johnson syndrome. 3. In other cases, x-ray therapy or drugs can sometimes cause Stevens-Johnson syndrome in susceptible people. Penicillin, sulfonamides, and barbiturates are the most common drug causes. The mechanisms by which infectious agents or drugs can cause the condition in some people is unknown, but it appears to be an unpredictable allergic reaction to these substances. Affected Population People of all ages and both sexes can be affected by Stevens-Johnson syndrome. Related Disorders Allergic Stomatitis is an inflammation of the mouth characterized by an intense shiny redness of the mucous membrane in the mouth, accompanied by slight swelling, itching, dryness or burning sensation. This disorder may be due to sensitivity to foods or lipstick. Herpetic Stomatitis is an inflammation of the mouth caused by the herpes simplex virus and characterized by itching followed by the appearance of small tense blisters on a red base. Reiter's syndrome is a combination of arthritis, inflammation of the urethra (urethritis), and conjunctivitis. It is similar to Stevens-Johnson syndrome, but distinguished by a definite burning sensation during urination and the frequent finding of hard, crusted lesions on the feet, hands, and occasionally elsewhere. Mikulicz syndrome (aphthous stomatitis) is limited to the lips and mouth. It is a disorder without fever, characterized by recurrent red spots that may ulcerate, and last about 2 to 3 weeks at each occurrence. Behcet's syndrome is a triad of symptoms including lesions of the mouth, ulcerations of the genital mucous membranes, and inflammation of the eyes. The ulcerations are small, but deep and chronic. Stevens-Johnson syndrome is the most severe form of Erythema Multiforme. For more information on the preceding disorders, choose "Reiter," "Mikulicz," "Behcet," and "Erythema Multiforme" as your search terms in the Rare Disease Database. Therapies: Standard When a cause for Stevens-Johnson syndrome can be found, it should be treated, eliminated or avoided (e.g., drugs or other substances to which the patient is allergic). Local treatment depends on the type of lesion. Antibiotic therapy and treatment with glucocorticoids may relieve the symptoms and shorten the course of the disease. Glucocorticoids usually are not used if an infection is present. Infections of the lips and mouth may require special care. Intense oral hygiene is necessary. A mouthwash of sodium bicarbonate solution in warm water can be soothing and cleansing. Rinsing after each meal with elixir of dexamethasone can relieve discomfort and promote healing of nonviral oral lesions. Another mouthwash that can be helpful is a solution of betnesol, zephiran HCl, peppermint oil, lidocaine HCl and tragacanth in water. Systemic corticosteroids have often been used in Stevens-Johnson syndrome, sometimes with apparent benefit. Intensive systemic antibiotics, fluids and electrolytes may be lifesaving in patients with extensive mucous membrane lesions. Ophthalmic consultation is required when the eyes are involved. Precautions must be taken to avoid permanent eye damage. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Stevens-Johnson Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 References ERYTHEMA MULTIFORME: W. Stewart, et. al., eds; In: Dermatology, Diagnosis and Treatment of Cutaneous Disorders, 3rd ed. Mosby, 1984. Stevens-Johnson SyndromeG pagetitle 295: Stevens-Johnson Syndrome 04237.TXT Copyright (C) 1987, 1990, National Organization for Rare Disorders, Inc. 421: Stickler Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Stickler Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Arthro-Ophthalmopathy Epiphyseal Changes and High Myopia Ophthalmoarthropathy Weissenbacher-Zweymuller Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Marfan Syndrome Spondyloepiphyseal Dysplasia Congenita Wagner Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Stickler Syndrome is a genetic disorder inherited as a dominant trait. This disorder is characterized by congenital abnormalities of the eye, a small jaw, and a cleft palate. Degenerative changes in some joints with bone abnormalities may occur early in life. With early treatment, the prognosis may be favorable. Symptoms Initial symptoms of Stickler Syndrome may include a broad, flat, sunken bridge of the nose which makes the face look flattened. A cleft palate and small jaw (the Pierre Robin anomaly) may also be present. In addition, sensorineural deafness may develop. Eye defects may include a high degree of nearsightedness (myopia), irregularities of the lens (astigmatism), and changes of the optic disk (where the optic nerve enters the retina). Cataracts, detachment of the retina and blindness may develop during the first decade of life. A form of glaucoma called glaucoma simplex may also occur. Bone abnormalities in joints such as the ankles, knees and wrists usually occur. During childhood, patients may experience stiffness and soreness after strenuous exercise. Swelling, redness and a feeling of heat may occur occasionally, leading to cracking (crepitation) and temporary locking of joints. Irregularities may be seen on X-rays of the joint surfaces, usually in the vertebral column and the knees. Incomplete dislocation (subluxation) of the hips is another frequent finding. Abnormal development of the cartilage at the ends of long bones (epiphyseal plate) may occur, and loose bony cartilage particles can be present in the joint. Joint hyperextensibility of the finger, knee, and elbow may occur as well as tapering fingers. Causes Stickler Syndrome is inherited as an autosomal dominant trait that may be expressed in mild, moderate or severe forms. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Stickler Syndrome is a rare disorder which affects males as well as females. Related Disorders Symptoms of the following disorders can be similar to those of Stickler Syndrome. Comparisons may be useful for a differential diagnosis: Spondyloepiphyseal Dysplasia Congenita (SED Congenita) is a disorder with autosomal dominant inheritance with symptoms which can range from mild to severe. It is characterized by flat facial features, nearsightedness (myopia), retinal detachment, cleft palate, clubfoot, short-trunk dwarfism, a waddling gait and normally sized hands and feet. This disorder is often detectable at birth and may affect males and females in equal numbers. (For more information choose "SED Congenita" as your search term in the Rare Disease Database.) Wagner Syndrome is inherited as an autosomal dominant disorder that can be expressed in mild, moderate or severe form. It is characterized by facial abnormalities, an underdeveloped jaw, saddle nose, cleft palate, and vision abnormalities. Joint hyperextensibility in the fingers, elbows and knees, and hip deformities may also occur. Therapies: Standard Avoidance of excessive physical exertion including contact sports may prevent stiffness and soreness of ankles, knees, and wrists. Detached retinas may be surgically reattached. Genetic counseling will be helpful to families of children with Stickler Syndrome. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Stickler Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Stickler Syndrome Support Group 27 Braycourt Ave. Walton on Thomas Surrey KT 12 2 AZ England The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MANAGEMENT OF RETINAL DETACHMENT IN THE WAGNER-STICKLER SYNDROME: B.M. Billington, et al.; Transactions Ophthalmol Soc UK (1985: issue 104, pt 8). Pp. 875-879. STICKLER'S SYNDROME OR HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATH: M. Vallat, et al.; Journal Fr Ophthalmol (1985: issue 8,4). Pp. 301-307. THE WAGNER-STICKLER SYNDROME: A STUDY OF 22 FAMILIES: R.M. Liberfarb, et al.; Journal Pediatrics (September 1981: issue 99,3). Pp. 394-399. Stickler Syndrome pagetitle 421: Stickler Syndrome 04238.TXT Copyright (C) 1987, 1989, 1991 National Organization for Rare Disorders, Inc. 326: Stiff Man Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Stiff Man Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Muscular Rigidity - Progressive Spasm Moersch-Woltmann Syndrome SMS General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Stiff Man Syndrome is a very rare neurological disorder. It is characterized by progressive rigidity and spasm of the voluntary muscles of the neck, trunk, shoulders, and proximal extremities. Symptoms Stiff Man Syndrome is characterized by progressive muscular rigidity. Aching and tightness of the voluntary muscles of the body and limbs are usually the first symptoms. Profuse sweating and a rapid heart beat (tachycardia) may accompany the muscle spasms. Muscles of the neck, trunk, shoulders, and proximal extremities may be involved on both sides of the body. During attacks of muscular spasm, contractions such as sharp bending and twitching may occur in the muscles of the hand. Extreme bending of the sole (plantar flexion) may also occur. Affected muscles may become twisted and contracted, resulting in bone fractures in the most severe cases. Persons affected by Stiff Man syndrome may have difficulty making sudden movements and exhibit a waddling gait when walking. Sleep usually suppresses frequency of contractions. SMS may be progressive and may gradually involve additional muscles of the back and abdomen. Stiffness may increase and patients may develop a hunched posture (kyphosis) or a swayback (lordosis). Causes Newly reported studies support the theory that Stiff Man Syndrome is an autoimmune disorder. Onset occurs gradually. Heredity factors have not been established. The spasms can be triggered by external factors such as sudden noise and emotional stimuli. The attacks of stiffness may be caused by an abnormality deep in the grey mass of the brain (basal ganglion of the Central Nervous System). Heredity of Stiff Man Syndrome has not been proven, but one research paper has described 10 people affected with the syndrome in 3 generations of one family. Affected Population About 70% of persons affected with Stiff Man Syndrome are male adults, about 30% are female. It is a very rare disorder. Related Disorders Reflex Sympathetic Dystrophy Syndrome (RSDS) is a disorder which involves pain in nerves, skin, muscles, blood vessels, and bones of one or more extremities. Pain in varying degrees is the primary symptom. (For more information, choose "RSDS" as your search term in the Rare Disease Database.) Torsion Dystonia (Dystonia Musculorum Deformans, DMD) is an incapacitating neurological disorder which causes patients to develop repetitive twisting and writhing movements. The movements may affect a single muscle, a group of muscles such as those in the arms, legs, or neck, or the entire body. Experts have lately been referring to this disorder as "the Dystonias", indicating a group of related movement disorders rather than a single disorder. (For more information choose "Torsion Dystonia" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Stiff Man Syndrome with diazepam may provide dramatic improvement in many cases. This drug relaxes the muscles. Therapies: Investigational Drs. Pietro DeCamilli and Michele Solemana, of Yale University in New Haven, CT, theorize that Stiff-Man Syndrome may be an autoimmune disorder in which the body's natural defenses against invading organisms (e.g., antibodies, lymphocytes) attack synapses in the brain and spinal cord, where a neurotransmitter, gammaaminobutyric acid (GABA), flows between nerve ends. The physicians are studying the use of plasma exchange combined with steroid drugs as a treatment for Stiff Man Syndrome. Plasma exchange (plasmapheresis) is a procedure for removing unwanted substances (toxins, metabolic substances, and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human blood and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis and steroid drugs can be recommended as a treatment for Stiff Man Syndrome. This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Stiff Man Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dr. Mark Hallet NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References MENDELIAN INHERITANCE IN MAN, 6th ed: Victor A. McKusick; Johns Hopkins University Press, 1983. P. 495. DICTIONARY OF MEDICAL SYNDROMES, 2nd ed: Sergio I. Magalini and Euclide Scrascia; Lippincott, 1981. P. 558. AUTOANTIBODIES TO GABA-ERGIC NEURONS AND PANCREATIC BETA CELLS IN STIFF MAN SYNDROME, Michele Solimena, M.D., et al.; New Eng J Med., (May 31, 1990, issue 322 (2)). Pp. 1555-1560. Stiff Man Syndromea pagetitle 326: Stiff Man Syndrome 04239.TXT 0Copyright (C) 1992 National Organization for Rare Disorders, Inc. 890: Streptococcus, Group B _________________________ ** IMPORTANT ** It is possible that the main title of the article (Group B Streptococcus) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by this article. Synonyms GBS Disorder Subdivisions: Infant Early-Onset Infant Late-Onset Adult Onset Information on the following diseases can be found in the Related Disorders section of this report: Infectious Arthritis Infective Endocarditis Listeriosis Meningitis Osteomyelitis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Group B Streptococcus is a bacterial infection in which groups of streptococcus bacteria reproduce and multiply (colonize) in the mucous membranes. This bacteria is found most often in the vagina and rectum of females. Group B Streptococci can be transmitted sexually, as well as to a fetus as the infant passes through the birth canal. The main groups at risk of developing disease from GBS are newborn children of an infected mother, women after childbirth, females after gynecologic surgery and older male and female patients with other serious diseases. The affects of this bacteria on newborn children as well as adults can cause many serious problems. Symptoms Infant Early Onset - Early onset of Group B Streptococcus disease occurs in the first seven days of life with more than half of the cases occuring in the first twenty-four hours. Symptoms of early onset Group B Streptococcus disease may be: lung disease in which there are airless air sacs and rigid lungs (respiratory distress), a widened nose, cramps of the rib cage muscles, and build up of fluid in the arms and legs; sudden swelling and inflammation of the lungs (fulminant pneumonia); an absence of automatic breathing (apnea); failure of the heart and blood vessel system (cardiovascular collapse) and/or infection and swelling of the membranes covering the brain and spinal cord (meningitis); fever and/or irritability. Infant Late Onset - Late onset of Group B Streptococcus disease occurs between seven days and three months after birth. Infection or swelling of the membranes covering the brain and spinal cord (meningitis) is the most common symptom of late onset GBS, occuring in seventy-five percent of the infants with this disease. Other symptoms of late onset GBS may be: irritability or fussiness; bone pain, muscle spasms and fever caused by infection of the bone or bone marrow when Group B Streptococcus enters the bloodstream (osteomyelitis); swelling in the front of the white part of the eye causing red eyes and a thick discharge (conjunctivitis); ear infection or inflammation of the middle ear (otitis media) that may spread to the membranes of the brain and spinal cord; inflammation of the spongy bone that forms most of the walls of the upper part of the nasal cavity (ethmoiditis); an infection in the brain forming a sac filled with pus and surrounded by swollen tissue (brain abscess); swelling and a build up of fluid in the lungs (pneumonia); infection of the skin causing heat, pain, swelling, redness, fever and/or chills (cellulitis); a pus-forming infection of the kidney causing fever, chills, pain, nausea and/or frequent urination (pyelonephritis); infection of the fluid that lubricates joints causing destruction of cartilage and/or joints to freeze (pyarthrosis); and inflammation of the lining of the heart and heart valve causing low back pain, pain in the joints, chills and/or loss of appetite (endocarditis). Adult Onset - Adult Group B Streptococcus disease occurs mainly in women after childbirth or gynecologic examination or treatment, and elderly male and female patients with other serious diseases such as diabetes mellitus, chronic renal failure, cirrhosis of the liver or malignancy. The most common infections caused by GBS in adults are swelling of the mucous membrane that lines the uterus causing fever, pain in the abdomen, discharge and swelling of the uterus (endometritis); and infection of the kidney causing fever, chills, pain, nausea and frequent urination (pyelonephritis). Other symptoms or illnesses that may occur in adults with GBS are: infection of the skin causing heat over the area, pain, and swelling (cellulitis); inflammation of the membranes around the brain or spinal cord causing fever, headache, nausea, vomiting, a stiff neck and/or aching muscles (meningitis); swelling and a build up of fluid in the lungs (pneumonia); inflammation of the lining of the heart and heart valve causing low back pain, pain in the joints, fever, night sweats, chills, headache, loss of appetite, and/or weight loss (endocarditis); swelling of the membrane that covers the wall of the abdomen causing nausea, pain, a rapid heart beat, chills, fever, and/or rapid breathing (peritonitis); bone pain, muscle spasms and fever caused by the bacteria entering the bloodstream and infecting the bone (osteomyelitis) or bone marrow; and swelling of the joints causing pain (arthritis). Causes Group B Streptococcus infection occurs when the bacteria (s. agalactiae) multiply and colonize in the mucous membranes. It tends to occur in certain high risk groups. The three groups that are most at risk of developing disease from this bacteria are newborn babies of infected mothers, women after childbirth or gynecologic surgery, and older patients with other serious diseases. Affected Population Group B Streptococcus infection is a prevalent disorder. The GBS bacterial infection is found throughout the world. It has been estimated that 15-35% of all women have the GBS bacteria in the vaginal region and/or intestines. In the majority of cases this bacteria will not cause any symptoms in adult females and as a result, many are not aware that they have it. Approximately 12,000 babies in the United States get this disease yearly. Group G Streptococcus infection tends to affect newborn babies, women after childbirth and/or gynecologic surgery, and elderly male and female patients with other diseases. Related Disorders The following disorders may be associated with Group B Streptococcus or may have other causes. Comparisons may be useful for a differential diagnosis: Infectious Arthritis is an infection of tissues in a joint by bacteria, viruses or fungi. Symptoms of this disorder depend upon which agent has caused the infection. The symptoms may include fever, chills, general weakness and headaches, followed by inflammation of one or more joints. The affected joint or joints often become very painful, swollen, slightly red and stiff within a few hours or days. Rapid onset of symptoms may indicate that a bacterium is the cause. (For more information on this disorder choose "Infectious Arthritis" as your search term in the Rare Disease Database). Infective Endocarditis is a bacterial infection of the inner lining of the heart muscle (endocardium). This inner lining also covers the heart valves, and it is these valves which are primarily affected by infective endocarditis. There are several forms of infective endocarditis. Two types that have similar symptoms but are caused by different bacteria are acute bacterial endocarditis and subacute bacterial endocarditis. Acute bacterial endocarditis may affect normal heart valves, while subacute bacterial endocarditis more commonly affects heart valves which have been previously damaged by disease. A third type of infective endocarditis, prosthetic valvular endocarditis (PVE), may develop in patients who have previously had artificial (prosthetic) valve replacement or tissue valve replacement. (For more information on this disorder, choose "Endocarditis " as your search term in the Rare Disease Database). Listeriosis is a disorder caused by a bacterial infection (Listeria monocytogenes) transmitted to humans through contaminated food products, usually improperly pasteurized milk or cheese. Some cases have been transmitted through contact with other infected persons or animals. Cases range in severity from a transient carrier state with no apparent symptoms, to acute (suddenly occuring) spread of bacteria throughout the blood stream. Listeriosis of pregnancy may exhibit no symptoms or may be marked only by a fever and back pain. This condition can be mistaken for a bacterial infection of the kidney (pyelonephritis). (For more information on this disorder choose "Listeriosis" as your search term in the Rare Disease Database). Meningitis is a disorder characterized by inflammation of the membranes (meninges) around the brain or spinal chord. The disorder can occur in three different forms: adult, infantile, and neonatal. This inflammation can be caused by different types of bacteria, fungi, or malignant tumors. Chemical reactions to certain injections into the spinal canal can also cause meningitis. In it's acute form the disorder is characterized by fever, headache, a stiff neck and vomiting. (For more information on the disorder choose "Meningitis" as your search term in the Rare Disease Database). Osteomyelitis is a common infection of the bone caused by bacteria, frequently Staphylococcus. This disorder is usually due to an infection in another part of the body that is transported through the bloodstream to a bone in a distant location. In some cases the cause is unknown. Initially there may be several days of fever and a generalized feeling of ill health. This may be followed by an increase in fever, deep localized bone pain, chills, sweating, swelling and painful or limited movement of the nearby joints. (For more information on this disorder choose "Osteomyelitis" as your search term in the Rare Disease Database). Therapies: Standard Group B Streptococcus is diagnosed by isolating the organism from the blood, cerebrospinal fluid, or fluid from the stomach. Penicillin G and Ampicillin are antibiotic drugs prescribed to treat Group B Streptococcus. Patients allergic to these drugs may be given other antibiotics such as cephalosporins, erythromycin and/or chloramphenicol. There is now a rapid screen blood test that detects part of the GBS bacterium within hours. This test can detect if the pregnant woman is infected while in labor, allowing the doctor to administer antibiotics immediately in order to prevent the newborn from acquiring GBS. Therapies: Investigational Researchers are currently trying to develop a vaccine for Group B Streptococcus so that the infection can be prevented. This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Group B Streptococcus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Group B Strep Association P.O. Box 16515 Chapel Hill, North Carolina 27516 (919) 932-5344 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, Editor-In-Chief; Little, Brown and Co., 1987. Pp. 1647-1648. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1572-73. ANTIMICROBIAL PROPHYLAXIS OF NEONATAL GROUP B STREPTOCOCCAL SEPSIS: Kenneth M. Boyer, et al.; Clinics in Perinatology; (December 1988, issue 15(4)). Pp. 831-51. Streptococcus, Group B 1pagetitle 890: Streptococcus, Group B 04240.TXT +Copyright (C) 1990 National Organization for Rare Disorders, Inc. 809: Stroke _________________________ ** IMPORTANT ** It is possible that the main title of the article (Stroke) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Apoplexy Cerebrovascular Accident Cerebrovascular Disease Disorder Subdivisions: 1) Infarct stroke a. thrombotic stroke b. embolic stroke 2) Hemorrhagic stroke Information on the following disorders can be found in the Related Disorders section of this report: Transient Ischemic Attack (TIA) Vascular Malformations Bell's Palsy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Stroke is one of the most common neurological conditions affecting the central nervous system. Stroke is caused by a blockage of blood flow to part of the brain. This may happen because of a blood clot (embolus, cerebral thrombosis), or because of the bursting of an aneurysm (a ballooned area of a blood vessel) in the brain. Temporary strokes may occur due to constriction of arteries from atherosclerosis (also known as "arteriosclerosis" or "hardening of the arteries"), heart irregularities, blood disorders or massive loss of blood. Symptoms Each type of stroke has its own symptoms, progression, and prognosis depending upon the area of brain affected. Clumsiness, headaches, speech difficulties, weakness or paralysis usually of one side of the body may occur in infarct strokes. In thrombotic strokes, the symptoms may progress in stages starting with a feeling of clumsiness and leading eventually to paralysis. In embolic strokes, all the symptoms occur within seconds or minutes, striking without warning or pain. A sudden severe headache progressing to a stiff neck, nausea, vomiting, and unconsciousness are symptoms of a hemorrhagic stroke. Other symptoms of stroke may include difficulty in breathing, clammy skin, and/or confusion. Causes A stroke occurs because the blood supply to the brain has been cut off or decreased. Thrombotic strokes occur when a blood clot has narrowed or completely closed an artery in the neck or head. This may be due to atherosclerosis or "hardening of the arteries" which is the buildup of fat-containing materials and calcium (plaque) on the inner linings of blood vessels. Embolic strokes occur when a blood clot breaks away from a diseased artery in another part of the body and clogs a smaller artery in the brain. Hemorrhagic strokes occur when a blood vessel ruptures in or around the brain, depriving that area of its blood supply. Temporary strokes may occur due to constriction of arteries due to atherosclerosis, heart irregularities, anemia, massive blood loss, or sometimes in patients with subacute endocarditis who have damaged heart valves. Diabetes may increase the risk of stroke. In the person with diabetes, there is a malfunction in the production of insulin. Heart and blood vessel diseases such as heart attack, hardening of the arteries (arteriosclerosis), and stroke, are the leading causes of illness, disability and death among diabetics. Persons with diabetes are twice as likely to suffer from coronary heart disease and stroke, and five times as likely to suffer from arterial disease of the limbs than the non-diabetic population. Exactly how diabetes damages the cardiovascular system is not yet clear. (For more information on this disorder, choose "Diabetes" as your search term in the Rare Disease Database). Other risk factors for stroke are hypertension (high blood pressure), atherosclerosis (arteriosclerosis or "hardening of the arteries"), heart disease, obesity (especially when combined with high blood pressure or diabetes), lack of exercise, emotional stress, hereditary disorders that cause high levels of fat or cholesterol, and certain blood disorders such as sickle cell anemia and polycythemia. (For more information on these disorders choose "hypertension," "hypercholesterol," "hyperlipoproteinemia," "sickle cell" or "polycythemia" as your search terms in the Rare Disease Database). When birth control pills are used for a long time, especially by women who smoke, there is an increased possibility of forming blood clots that may lead to stroke. Moreover, people who form blood clots due to accident, injury or illness must be vigorously treated with medications that dissolve blood clots in order to assure that the clot will not travel to the brain where it can cause a stroke. The role of hereditary factors in stroke has not yet been established. Affected Population Stroke tends to affect the elderly, males, and black people more than the general population. 80% of stroke patients are over the age of 65. Alcoholics, drug abusers, patients with atherosclerosis, diabetes or high blood pressure, and people who smoke also have a greater risk of stroke. People who have had a stroke are at a greater risk of having another one. In 1986, 400,000 Americans had a stroke. However, stroke is occurring less often now, possibly because there is improved treatment for hypertension, diabetes and other disorders, and because Americans have a greater interest in preventative health measures such as cholesterol screening and low-fat diets. Related Disorders Symptoms of drug abuse or drug reactions, some types of brain tumors, patients who are emerging from an epileptic seizure, or symptoms of head injury can be similar to those of stroke. Bell's Palsy is characterized by sudden onset of facial paralysis resulting from ischemia (decreased blood supply) to part of the head and compression of the facial nerve (cranial nerve VII). It is not progressive. Part or all of the face may be affected. The affected muscles usually regain their function after one to two months, although in cases of extensive nerve damage, all or part of the paralysis may be permanent. (For more information of this disorder, choose "Bell's Palsy" as your search term in the Rare Disease Database). The following disorders may precede or increase the risk of developing stroke: A transient ischemic attack (TIA) often indicates an impending stroke, which may occur shortly after the TIA or as much as five years later. Symptoms include passing numbness; tingling or weakness in an arm, leg, or on one side of the face; temporary blindness in either one or both eyes; or difficulty with speech for a short period of time. Other possible symptoms are headache, nausea, dizziness, vomiting, or drowsiness which occur for no apparent reason or appear to be unusual. Poor judgement or forgetfulness, and unusual personality changes may be other indications of TIA. If these types of symptoms occur, it is important to seek medical care at once. Vascular Malformations are abnormal blood vessels. When they occur in the brain, they are classified into arteriovenous malformations (abnormal arteries and veins), cavernous malformations (enlarged channels of blood vessels), venous malformations (abnormal veins), and the telangiectasias (enlarged capillary-sized vessels). These types of malformations in the brain may cause recurrent headaches, seizures and hemorrhaging. Hemorrhaging in the brain can cause strokes. (For more information on these disorders, choose "Vascular malformation" and "AVM" as your search terms in the Rare Disease Database). Therapies: Standard CT scans and angiograms (arteriograms) are diagnostic tests that show the brain's tissues and blood vessels to determine whether a person has had a stroke. Other diagnostic tests include computer-coded X-ray images of the brain's arteries (digitized intravenous ateriography, or DIVA), and a technique that uses soundwaves to find defects in the arteries of the neck that supply blood to the brain (ultrasonography). Right after an infarct stroke, anticoagulant drugs such as heparin and warfarin may be used to stop blood clots. In some cases aspirin may be prescribed. Aspirin taken in small amounts can prevent blood clots from forming, but it should be taken under supervision of a physician because it can cause stomach ulcers as well as retard the ability of blood to clot normally. Right after a hemorrhagic stroke, drugs to help clotting at the site of the rupture may be prescribed. Drugs to reduce brain swelling or relieve high blood pressure may also be used. Occasionally, surgery may be necessary in hemorrhagic stroke patients to remove aneurysms (part of a blood vessel wall that has abnormally widened or stretched), or to remove large clots. Patients who have had a stroke because of atherosclerosis occasionally require surgery to remove the plaque that has narrowed the interior of the arteries. Treatment may also include exercise, speech therapy and physical therapy depending upon the symptoms remaining after the stroke has occurred. With proper medical care, most strokes can be prevented with medications and/or diet in people with atherosclerosis, high blood pressure and diabetes. Therapies: Investigational Research on improved treatments and prevention of stroke is being conducted at cerebrovascular clinical research centers. This disease entry is based upon medical information available through August 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Stroke, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Stroke Association 8480 E. Orchard Rd., Suite 1000 Englewood, CO 80111-5015 (303) 771-1700 The Stroke Foundation, Inc. 898 Park Avenue New York, NY 10021 (212) 734-3434 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 To locate centers that specialize in rehabilitation of stroke patients, contact: National Easter Seal Society 70 East Lake Street Chicago, IL 60601 (312) 726-6200 (312) 726-4258 (TDD) References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2159. THE MERCK MANUAL, Volume 1, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp, and Dohme Laboratories, 1982. Pp. 1381-1389. WORLD BOOK MEDICAL ENCYCLOPEDIA: Erich E. Brueschke, M.D., et al, eds; World Book, Inc., 1988. Pp. 834-836. Stroke ,pagetitle 809: Stroke 04241.TXT +Copyright (C) 1986, 1987, 1988, 1989, 1991, 1993 National Organization for Rare Disorders, Inc. 306: Sturge-Weber Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Sturge-Weber Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dimitri Disease Encephalofacial Angiomatosis Encephalotrigeminal Angiomatosis Leptomeningeal Angiomatosis Meningeal Capillary Angiomatosis Sturge-Kalischer-Weber Syndrome Sturge-Weber Phakomatosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sturge-Weber Syndrome is composed of three major symptoms: Excessive blood vessel growths (leptomeningeal angiomas) are accompanied by accumulations of calcium inside the brain, and seizures. Facial birth marks (nevus flammeus) appear usually on one side of the face. Angiomas similar to those found in the brain can develop inside the eye, often with secondary glaucoma. Symptoms Nevus Flammeus is a discoloration on the face which is the red color of port wine. In Sturge-Weber Syndrome this "port wine stain" is noted at birth and generally occurs on the same side of the head as the excessive blood vessel growths (leptomeningeal angiomatoses) in the brain which are accompanied by accumulations of calcium (intracranial calcifications). The port wine stain primarily occurs along the distribution of the trigeminal nerve in the face, although in some cases it does not appear at all. Approximately thirty seven percent of patients have portwine stains on both sides of the face. Involvement of the extremities or trunk, in addition to the face, occurs in up to thirty-six percent of patients. Although the discoloration usually affects only one side of the face, a slight extension over the midface occurs in approximately fifty percent of cases. The port wine stain tends to deepen in color with age, and nodular elevations may also develop. Port wine stains on the lips and mucous membranes lining the mouth are present in approximately twenty five percent of patients. Overgrowth of tissue may develop inside the mouth as well, and may be further increased as a side effect of the drug phenytoin when it is used to treat seizures. Seizures occur in approximately fifty five to ninety seven percent of patients, usually beginning during the first year of life. These tend to become more frequent and severe with age. A form of paralysis (hemiparesis or hemiplegia) occurs in thirty percent of patients. Mental disturbances occur in fifty to sixty percent of patients. Eye problems occur in approximately forty percent of patients on the same side of the head as the portwine stain and clumps of blood vessels (leptomeningeal angiomatosis) accompanied by intracranial calcifications. These eye problems do not tend to occur in Sturge-Weber patients who have no portwine stains. Glaucoma occurs in approximately thirty percent of patients. In most of these cases glaucoma is present at birth accompanied by enlargement of the eyeball (buphthalmos), but it may begin anytime before (and/or) after the age of two years. Other eye anomalies include clumps of blood vessels (angiomas) in the membranes that line the inner surface of the eyelids (conjunctiva), choroid and cornea; loss of vision in half the visual field in one or both eyes (hemaniopsia); eyes of two different colors (i.e., one blue eye and one brown eye); an abnormal accumulation of fluid inside the eyeball causing enlargement (hydrophthalmos); optic atrophy; clouding (opacification) or displacement of the lens; retinal detachment; streaks resembling blood vessels (angioid streaks); or loss of sight due to an organic lesion in the visual cortex (cortical blindness). Sturge-Weber Syndrome patients may also have other blood vessel or nerve abnormalities. Excess deposits of calcium may be found in the brain, retina, lungs, thyroid, intestines, and liver. Klippel-Trenaunay Syndrome with port wine stain (nevus flammeus) of the extremities can also occur in conjunction with Sturge-Weber Syndrome. (For more information on Klippel-Trenaunay Syndrome, please choose "Klippel" as your search term in the Rare Disease Database). Some patients with Tuberous Sclerosis, Neurofibromatosis, and Wyburn-Mason Syndrome also appear to concurrently have Sturge-Weber Syndrome. Ocular or Oculocutaneous Melanosis (Phakomatosis Pigmentovascularis, type II-B) has been associated with Sturge-Weber in a small number of patients. Melanosis is an abnormal dark brown or black-brown pigmentation in various tissues or organs. (For more information on any of these disorders, please choose the appropriate name as your search term in the Rare Disease Database). Causes The exact cause of Sturge-Weber Syndrome is unknown. In some it is believed to be an autosomal dominant hereditary disorder. It may also be caused by trauma sustained early during fetal life. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Sturge-Weber Syndrome is a rare disease affecting only a few thousand people in the United States. It occurs in both females and males. Onset occurs before birth. Related Disorders Neurofibromatosis (NF) is a genetically determined disorder with highly variable symptoms which can affect many body systems. Onset usually occurs in childhood. The disease usually becomes more active at puberty, during pregnancy, and at menopause. The most prominent symptoms are tumors under the skin which can result in disfigurement and other complications. (For more information, choose "Neurofibromatosis" as your search term in the Rare Disease Database.) Tuberous Sclerosis is a congenital disorder associated with benign tumors of the brain, skin lesions, and occasional involvement of other internal organs. It is most often characterized by two neurological symptoms -epileptic seizures and varying degrees of mental retardation. (For more information, choose "Tuberous Sclerosis" as your search term in the Rare Disease Database.) Von Hippel-Lindau Syndrome is a possibly hereditary disorder characterized by angioma of the retina associated with a benign tumor. The tumor is composed of newly formed blood vessels (hemangioma) in the central nervous system. (For more information on this disorder, choose "Von Hippel" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Sturge-Weber Syndrome is symptomatic and supportive. The port wine stain (hemangioma) can be treated with the use of a new type of laser known as the "flash pump dye" laser. The energy emissions fade or remove the stains making them less noticeable and in some cases "coverable" by makeup. The argon laser, used until recently to treat port wine stains, can cause crusting, scabbing and scarring of the stain. It can also cause enough pain to require local anesthesia. The flash pump dye laser can be used on young children as young as one month of age with port wine stains because it is relatively painless and eliminates any lasting effects on the skin. Contact the Sturge-Weber Foundation (listed in the Resources section) for a laser center near you. Seizures may be controlled in many patients by anticonvulsants. Special education services are commonly required for Sturge-Weber children. Genetic counseling and physical therapy may benefit patient and family. Therapies: Investigational Clinical trials involving Sturge-Weber Syndrome include the following projects: Children under the age of one year with Sturge-Weber Syndrome and seizures are being examined with the Positron Emission Tomography (PET) scan by Harry T. Chugani, M.D., under a grant from the National Institutes of Health. Dr. Chugani is seeking to identify patients with controlled seizures who might benefit from removal of one of the hemispheres of the brain (hemispherectomy). Physicians may contact: Dr. Harry T. Chugani UCLA Medical Center Department of Pediatric Neurology 10833 LeConte Los Angeles, CA 90024-1752 (215) 825-5946 Dr. Eva Sujansky of Children's Hospital, Denver, CO, is conducting chromosome research on Sturge-Weber Syndrome. Dr. Sujansky is director of the Sturge-Weber Clinic at Children's Hospital. Dr. Eva Sujansky TCH-Denver 1056 E. 19th Ave., Box B-300 (303) 861-6395 Research on Port Wine Stains is also being pursued by: Dr. Odile Enjolras Dept. of Dermatology Hospital Tarnier Paris, France The Flashlamp-Pulsed Tunable Dye Laser is showing very good results in the treatment of port wine stain in the skin of children under age eighteen. This treatment has shown little or no side effects. This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every in the Rare Disease Database completely current and accurate. Please with the agencies listed in the Resources section for the most current about this disorder. Resources For more information on Sturge-Weber Syndrome, please contact: National Organization for Rare Disorders (NORD) Box 8923 Fairfield, CT 06812-1783 746-6518 The Sturge-Weber Foundation P.O. Box 460931 Aurora, CO 80046 (303) 360-7290 (800) 627-5482 Sturge-Weber Support Group 2036 Ridgewood Way Bountiful, UT 84010 (801) 292-8228 (801) 292-6639 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A. McKusick; Johns Hopkins Press, 1983. P. 498. BIRTH DEFECTS COMPENDIUM, 2nd ed.: Daniel Bergsma; March of Dimes, 1979. 1987. Sturge-Weber Syndrome ,pagetitle 306: Sturge-Weber Syndrome 04242.TXT Copyright (C) 1986, 1987 National Organization for Rare Disorders, Inc. 185: Subacute Sclerosing Panencephalitis _________________________ ** IMPORTANT ** It is possible the main title of the article (Subacute Sclerosing Panencephalitis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms SSPE Decerebrate Dementia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Subacute Sclerosing Panencephalitis (SSPE) is a progressive life threatening neurological (brain) disorder occuring months to years (usually years) after an attack of measles. It is characterized by mental deterioration, myoclonic (shocklike) jerks, and seizures. Symptoms Subacute Sclerosing Panencephalitis usually begins before the age of 20 years. Often the first signs are failing schoolwork, forgetfulness, temper outbursts, distractibility, sleeplessness, and hallucinations. Myoclonic jerks (sudden flexion movements of the extremities, head and trunk) and grand mal seizures may follow the mental and behavioral changes. Patients suffering from SSPE show further intellectual decline, changes in speech and abnormal involuntary movements. Distortion and twisting of the body, head and extremities may appear temporarily. Later, rigidity of the body muscles, difficulty in swallowing, cortical blindness, and optic atrophy may occur. In the advanced phases of SSPE, the patient becomes increasingly rigid, with intermittent signs of hypothalamic involvement (i.e., high body temperature, profuse perspiration, and disturbance of pulse and blood pressure). The disease can become life threatening within 1 to 3 years, often as the result of terminal bronchial pneumonia due to inactivity or aspiration of food. Sometimes, it has a more protracted course, with pronounced neurological deficits. A few patients may have remissions and exacerbations. Causes The cause of Subacute Sclerosing Panencephalitis is unknown; possibly SSPE is caused by a virus. Usually there has been a history of mumps or measles 2-10 years prior to the onset, but these childhood illnesses are common in the general population. There have been cases where patients have had contact with pets such as monkeys, dogs or kittens which later have died from the illness. Affected Population Subacute Sclerosing Panencephalitis occurs in children and adolescents usually before the age of 20 years. Related Disorders Progressive Multifocal Leukoencephalopathy is an infection of the brain by a normally nonpathogenic virus. Symptoms include unilateral bodily weakness, visual impairment and an alteration in the state of consciousness. Inclusion Body Encephalitis is a brain infection with gradual onset mostly in children under 12 years of age. Symptoms include deterioration in schoolwork, muscle jerks of the trunk and extremities, and loss of speech. Therapies: Standard Generally, treatment of the symptoms of Subacute Sclerosing Panencephalitis with anticonvulsants and supportive measures can be helpful. A number of antiviral agents have not proven helpful. Isolated reports about the effectiveness of isoprinosine have not been documented in controlled clinical trials. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Subacute Sclerosing Panencephalitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National SSPE Registry University of Alabama School of Medicine Department of Neurology 2451 Fillingim St. Mobile, AL 36617 (205) 471-2159 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 1401, 2023, 2041. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2203, 2206-7. Subacute Sclerosing Panencephalitis pagetitle 185: Subacute Sclerosing Panencephalitis 04243.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 626: Sucrose-Isomaltose Malabsorption, Congenital _________________________ ** IMPORTANT ** It is possible that the main title of this article (Congenital Sucrose-Isomaltose Malabsorption) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Disaccharide Intolerance I Sucrase-alpha-Dextrinase Deficiency, Congenital Sucrase-Isomaltase Deficiency, Congenital Sucrose Intolerance, Congenital Information on the following disorder can be found in the Related Disorders section of this report: Lactose Intolerance (Disaccharide Intolerance II; Lactase Deficiency, Congenital) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Congenital Sucrose-Isomaltose Malabsorption is a genetic metabolic disorder characterized by an inborn deficiency of the enzyme sucrase-isomaltase. This deficiency causes diarrhea if table sugar (sucrose) or certain other carbohydrates are eaten. Symptoms Congenital Sucrose-Isomaltose Malabsorption is characterized primarily by diarrhea. Children with this disorder may be unable to gain weight on a normal diet. Adults may experience abdominal cramps and bloating, and excessive gas (flatus) when sugar or other carbohydrates are eaten. Diarrhea may be severe enough to purge other nutrients before they can be absorbed. Causes Congenital Sucrose-Isomaltose Malabsorption is a hereditary disorder transmitted through autosomal recessive genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, he or she will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Affected Population Congenital Sucrose-Isomaltose Malabsorption is a rare disorder affecting children from birth. Males and females are found to have this disorder in equal numbers. Some patients may be only mildly affected while others may have a moderate to severe form of the disorder. Related Disorders Symptoms of the following disorder can resemble those of Congenital Sucrose-Isomaltose Malabsorption. Comparisons may be useful for a differential diagnosis: Lactose Intolerance (Disaccharide Intolerance II; Lactase Deficiency). Malabsorption syndromes result from impaired absorption of nutrients from the small bowel. Lactose Intolerance is characterized by diarrhea and abdominal distention. A lack of the lactase enzyme results in an inability to digest lactose which is a type of sugar found in milk. Avoiding milk products makes it possible for patients with Lactose Intolerance to lead normal lives, although the disorder may get worse with age. (For more information, choose "Lactose" as your search term in the Rare Disease Database.) Therapies: Standard Congenital Sucrose Isomaltose Malabsorption is treated by administering the sucrase-isomaltase enzyme derived from a type of yeast. A carefully controlled diet should avoid sucrose and sucrose containing foods. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Sucrose-Isomaltose Absorption, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6345 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ENZYME-SUBSTITUTION THERAPY WITH THE YEAST SACCHAROMYCES CEREVISIAE IN CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY: H.K. Harms, et al.; New England Journal Med (May 21, 1987: issue 316(21)). Pp. 1306-1309. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1731-1733. Sucrose-Isomaltose Malabsorption, Congenital; pagetitle 626: Sucrose-Isomaltose Malabsorption, Congenital 04244.TXT Copyright (C) 1986, 1987, 1991 National Organization for Rare Disorders, Inc. 194: Sudden Infant Death Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Sudden Infant Death Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms SIDS Cot Death Crib Death General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sudden Infant Death Syndrome (SIDS) is the sudden death of any infant or young child which is unexpected by history and in which no adequate cause for death can be found. The disorder occurs in children under the age of one year. Symptoms Infants with Sudden Infant Death Syndrome are pale or may have bluish skin as a result of receiving insufficient oxygen, are limp, and are not breathing during a time when they are presumed to be sleeping. Causes The cause of Sudden Infant Death Syndrome is not understood. It may be caused by prolonged apnea (cessation of breathing) during sleep or other still unknown causes. SIDS is responsible for the death of approximately 7,000 infants each year in the United States. It has been estimated that, annually, up to two deaths per 1,000 live births will be the direct result of SIDS. A relationship between SIDS and DPT vaccinations has been ruled out in a study conducted during the early 1980's. In 1990 researchers discovered that a few babies who had died of SIDS lacked a certain enzyme that is needed to break down short-chain fatty acids. The beta oxidation defects cause fatty change in the liver muscle and swelling of the brain. They suspect that this defect may only cause symptoms after a long period of fasting (not eating) which triggers low blood sugar and high concentrations of lactic acid in these children. The enzyme deficiency is inherited. However, more research is needed to confirm this theory. Affected Population Sudden Infant Death Syndrome occurs in children under one year of age. Seventy-five percent of deaths occur between two to six months of life. Only very rarely does the condition occur in the first 3 weeks of life or beyond the end of the first year. Therapies: Standard To prevent Sudden Infant Death Syndrome, home apnea/cardiac monitors may be used for children who are suspect for the disorder from family history. Respiratory stimulants such as theophylline or caffeine are sometimes prescribed, and medical or surgical therapy is used to correct abnormalities such as gastroesophageal reflux (return flow of stomach contents into the esophagus). Another form of therapy is cardiopulmonary resuscitation if the child stops breathing. The Food & Drug Administration has warned that availability of home apnea/cardiac monitors has led parents to purchase these machines with no reason to suspect that their infant is at risk for SIDS. Apnea/cardiac monitors should be purchased only under the advice of a physician who is knowledgeable about the effectiveness and safety of these devices. Therapies: Investigational This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sudden Infant Death Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National SIDS Clearinghouse 3520 Prospect St., Ground Floor, Suite 1 Washington, DC 20057 (202) 625-8410 National Sudden Infant Death Syndrome Foundation (NSIDSF) Two Metro Plaza, Suite 205 8240 Professional Place Landover, MD 20785 (301) 459-3388 (800) 221-SIDS Council of Guilds for Infant Survival P.O. Box 3841 Davenport, IA 52808 (319) 322-4870 United SIDS Awareness Inc. Family and Friends of Sudden Infant Death Syndrome Victims International Headquarters 3901-3 West Dakin Street Chicago, IL 60618 (312) 583-3786 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1888, 1921. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2079. Sudden Infant Death Syndrome+ pagetitle 194: Sudden Infant Death Syndrome 04245.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 203: Sutton's Disease II _________________________ ** IMPORTANT ** It is possible the main title of the article (Sutton's Disease II) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms von Mikulicz's Aphthae Periadenitis Mucosa Necrotica Recurrent Scarring Aphthae Major Aphthous Ulcer Major Ulcerative Stomatitis Major Canker Sore Recurrent Aphthous Ulcer Von Zahorsky's Disease Recurrent Aphthous Stomatitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sutton's Disease II, also known as Recurrent Aphthous Stomatitis, is characterized by recurrent and painful attacks of major canker sores in the mouth (aphthous stomatitis). This disorder of unknown cause affects both males and females. Symptoms The major ulcers in the mouth of Sutton's Disease II vary in size from 7 to 15 mm. Up to 15 ulcers may be present at once in affected individuals. The ulcers begin as a shallow oval erosion or kind of ulceration filled with a slightly yellowish opaque material. This material is composed of coagulated tissue fluids, oral bacteria and white blood cells. The ulcers leave scarring when they heal. Causes The precise cause of Sutton's Disease II is unknown, but several factors point toward a localized immune reaction. Deficiencies of iron, vitamin B12, and folic acid increase susceptibility to the disease. Stress is usually the predominant factor which triggers the attacks. Affected Population Sutton's Disease II affects males and females equally before puberty; after puberty, females are affected in greater numbers than males. The disease occurs most frequently in undernourished children and weakened adults. Related Disorders Pemphigus is the name of a distinctive group of skin disorders characterized by successive crops of bullae (blisters). (For more information on Pemphigus, choose "Pemphigus" as your search term in the Rare Disease Database. Herpetic ulcers of the mouth, caused by a herpes virus, occur mainly on the immovable mucosa (hard palate and attached gums), while the aphthae of Sutton's Disease II rarely appear in those locations. Therapies: Standard Treatment of Sutton's Disease II involves application of a topical anesthetic such as 2% lidocaine viscous or as an oral rinse providing short-time relief and facilitating eating. A dental protective paste such as OrabaseR prevents teeth, dental appliances and oral fluids from irritating the ulcers. Application of triamcinolone acetonide in emollient dental paste (a soothing agent) reduces discomfort and promotes healing. Tetracycline oral suspension may be used to treat multiple lesions. If started early after onset of the disease, symptomatic relief may occur during the first day of treatment and new lesions may be aborted. Treatment must be repeated for each new attack. Occasionally, this therapy may result in oral candidiasis which is an infection caused by a fungus of the genus Candida. Therapies: Investigational This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sutton's Disease II, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 References THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 2325. THE CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Eds; W.B. Saunders Co., 1988. Pp. 675-676, 1664, 2347. Sutton's Disease II pagetitle 203: Sutton's Disease II 04246.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 424: Sweet Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Sweet Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Febrile Neutrophilic Dermatosis, Acute Information on the following disorders can be found in the Related Disorders section of this report: Erythema Elevatum Diutinum Erythema Multiforme Leiner Disease Ritter Disease (Dermatitis Exfoliativa Neonatorum) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sweet Syndrome is a rare skin disorder characterized by painful red eruptions usually on the arms, face, neck, and legs. The exact cause of this disorder is not known, although it may be associated with an injury to the skin. Symptoms Major symptoms of Sweet Syndrome are tender or painful skin eruptions and generalized discomfort (malaise). Skin lesions usually occur on the arms, but also on the face, neck, legs, and occasionally the thighs and trunk. The lesions may be up to an inch in diameter. They are usually bluish-red, irregular, flat or raised, sharply outlined, circular, and/or hardened, with a rounded edge. Blisters or bacteria-free pimples usually cover the plaques. Scarring is usually absent. Fever may occur. Protein in the urine is sometimes present. Remission may occur after a few weeks, but recurrences are possible. Tests usually reveal infiltration of white blood cells called neutrophils in the skin. On rare occasions, the female genital tract (vagina and uterus) may be involved. Causes The exact cause of Sweet Syndrome is not known. Possibly it is an allergic reaction to an unknown agent. The disorder may be associated with an injury to the skin such as vaccination or a scrape. An upper respiratory or skin infection may also precipitate Sweet Syndrome. Affected Population Sweet Syndrome affects mainly middle aged females, but it may also affect men, infants and children in rare cases. It is a rare disorder. Related Disorders Symptoms of the following disorders can be similar to those of Sweet Syndrome. Comparisons may be useful for a differential diagnosis: Erythema Multiforme is an inflammatory skin disorder characterized by symmetric, red, blistery lesions appearing on the skin of the hands and feet. Mucous membranes and skin of the eyelids may also be affected. (For more information on this disorder, choose "Erythema Multiforme" as your search term in the Rare Disease Database.) Erythema Elevatum Diutinum is possibly a variant of Erythema Multiforme. It is a rare chronic skin disorder usually occurring in adults between 30 and 60 years of age. This disorder may be associated with recurrent polyarthritis and is characterized by symmetric nodules and plaques near the joints. These lesions commonly appear on the back of the hands and feet. The size of the lesions may vary over the course of a day. Leiner Disease is a skin disorder which usually occurs during the first two months of life. A reddish patch of thickened skin appears first on the buttocks and spreads to other parts of the infant's body. Scaling and peeling may occur as well as anemia, itching and diarrhea. The redness and scaliness usually decrease after a few weeks with treatment. (For more information on this disorder, choose "Leiner" as your search term in the Rare Disease Database.) Ritter Disease (Dermatitis Exfoliativa Neonatorum) is a skin disorder affecting infants which is usually caused by a bacterial infection. Reddened skin may peel leaving raw areas which heal in dry crusty yellow patches. This disorder may follow upper respiratory infections, impetigo, or other improperly treated skin infections. Therapies: Standard Sweet Syndrome may go into spontaneous remission after a few weeks even without treatment. Systemic steroid drugs such as prednisone may produce dramatic improvement. Therapies: Investigational The investigational drug dapsone has been used experimentally to treat Sweet Syndrome. However, more research is needed before this drug can be prescribed for general use. This disease entry is based upon medical information available through October 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sweet Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References ACUTE FEBRILE NEUTROPHILIC DERMATOSIS. SWEET'S SYNDROME: M.A. Bechtel, et al.; Archives Dermatol (October 1981: issue 117,10). Pp. 664-666. SWEET'S SYNDROME: HISTOLOGICAL AND IMMUNOHISTOCHEMICAL STUDY OF 15 CASES: J.J. Going, et al.; Journal Clin Pathol (February 1987: issue 40,2). Pp. 175-179. ACUTE FEBRILE NEUTROPHILIC DERMATOSIS: SWEET'S SYNDROME: H. Chmel, et al.; South Med Journal (November 1978: issue 71,11). Pp. 1350-1352. Sweet Syndrome pagetitle 424: Sweet Syndrome 04247.TXT 2Copyright (C) 1991 National Organization for Rare Disorders, Inc. 842: Syphilis, Acquired _________________________ ** IMPORTANT ** It is possible that the main title of the article (Acquired Syphilis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lues Venereal Disease Information on the following diseases can be found in the Related Disorders section of this report: Behcet's Syndrome Bejel Candidiasis Chancroid Congenital Syphilis Herpes Progenitalis Pinta Yaws General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Syphilis is a chronic infectious disease caused by a microorganism (treponema pallidum). It is transmitted by direct contact with an infected lesion, usually through sexual intercourse. When untreated, Syphilis progresses through primary, secondary and latent stages. Symptoms can remain dormant for years. Eventually any tissue or vascular organ in the body may be affected. Syphilis may also be acquired by the fetus in the uterus or before birth (Congenital Syphilis). Syphilis can be cured with appropriate treatment. Symptoms Untreated Syphilis progresses through primary and secondary stages (which are infectious), and may end without further symptoms or continue to progress into a latent stage that may last for years. Primary Syphilis is characterized by lesions (chancres) of the skin, anus, vagina or moist surface of the mouth. These lesions present themselves from 10 to 90 days after the patient has been exposed to the organism and are found at the sight of contact with the infected person. The lesions are usually painless and start as small, solid elevations (papules) of the skin which gradually develop into raised, firm ulcers with a slight yellow discharge. When untreated these lesions heal within four to six weeks and may leave scarring. Secondary Syphilis usually presents itself within two weeks to six months after the appearance of the primary lesions. This stage of the disorder is characterized by lesions of the skin and mucous membranes that may be pink or coppery in color, widespread, symmetrical, and follow the lines of skin cleavage. The skin lesions of secondary Syphilis are infectious and most often found on the genitalia, palms, and soles of the feet. Symptoms such as loss of appetite, sore throat, headache, low-grade fever, muscle aches, nasal discharge, and swollen lymph nodes may occur. There is a relapse in twenty five percent of the untreated cases, occuring most often in the first year. Secondary Syphilis usually lasts two to six weeks and some of the lesions may leave scarring. Latent Syphilis occurs when Primary and Secondary Syphilis have gone untreated. There are no noticeable symptoms, and the diagnosis can only be made through laboratory tests. Patients may relapse during the first two to four years of infection, and infectious Secondary Syphilis lesions may reappear. In about one third of the cases the disease spontaneously cures itself. Another third will remain infected but show no signs of the disease. The final third will eventually develop late Syphilis. Late Syphilis is not contagious and usually progresses slowly. Benign (non-contagious) tumors may develop on any part of the body. These tumors usually involve the skin and bones. Cardiovascular problems, seizures, personality changes, impotence, bladder dysfunction, and eye problems such as optic atrophy and Argyll Robertson pupils (a pupil that fails to react to light but still reacts to distance) may also be present with late Syphilis. Dementia and blindness may result. Causes Syphilis is caused by the microorganism treponema pallidum and acquired through sexual contact with an infected person. Occasionally health workers have become infected while examining patients with infectious lesions. It may also be acquired by kissing someone with oral infectious lesions. Infected mothers can transmit Syphilis to the fetus in the womb. (For more information on Congenital Syphilis choose "Syphilis, Congenital" as your search term in the Rare Disease Database.) Affected Population There are about 80,000 cases of Syphilis reported each year in the United States. The highest rate of Syphilis is among 20 to 24 year old men and women. It is more common among persons who have sexual contact with numerous partners. The ratio of male:female cases of infectious Syphilis is currently 3:1. There has been a dramatic increase in Congenital Syphilis during recent years due to the use of "crack" cocaine and the increase in prostitution to support drug abuse. Related Disorders Symptoms of the following disorders can be similar to those of Acquired Syphilis. Comparisons may be useful for a differential diagnosis: Behcet's Syndrome is a relapsing inflammatory disease with unknown cause. The most common symptoms include oral and genital ulcers and inflammation of the eyes. The joints, blood vessels, central nervous system, and gastrointestinal tract may also be involved. Attacks may last a week to a month and recur spontaneously. Behcet's syndrome is not a venereal disease. (For more information on this disorder, choose "Behcet" as your search term in the Rare Disease Database). Bejel, or endemic syphilis, is an infectious disease caused by an organism (treponema pallidum II) related to and identical in appearance to that causing venereal syphilis. This infection causes lesions of the skin and bone and is common among children in the mediterranean countries of the Middle East, northern Africa, parts of eastern Europe, Arabia, subsaharan Africa, and Southeast Asia. In the United States, however, it is rare. Bejel is transmitted by physical, nonsexual contact and the sharing of eating and drinking utensils. (For more information on this disease choose "Bejel" as your search term in the Rare Disease Database.) Candidiasis (Candida Albicans) is a normally harmless yeast infection found in the mouth, intestinal tract, and vagina. This disorder is an infection caused by a fungus called Candida; most commonly the Candida albicans variety. It is also known as a yeast infection and it usually affects the skin and/or the mucous membranes of the mouth, intestines, or the vagina. Candida infections are rarely serious in otherwise healthy people. In rare cases it may spread through other parts of the body if the patients immune system is not functioning properly. In severe cases it may affect the blood, the membrane lining the heart muscle, or membranes around the brain (meninges). (For more information on this disorder, choose "Candidiasis" as your search term in the Rare Disease Database.) Chancroid is a sexually transmitted infection caused by the bacillus Hemophilus ducreyi. The incubation period for this disease is two to fourteen days. Chancroid affects the skin and starts as an inflamed patch of skin which eventually becomes a painful ulcer. Lesions are usually single but may be multiple. In males these lesions are usually found on the penis or around the anus. The lesions on females are normally found on the vagina, cervix, vulva, or around the anus. This infection is rare in the United States but common in Africa and Southeast Asia. Chancroid is usually treated with the antibiotic erythromycin. Congenital Syphilis is a chronic infectious disease caused by a microorganism (treponema pallidum) acquired by the fetus in the uterus or before birth. Symptoms of early Congenital Syphilis include fever, skin problems and low birth weight. In late Congenital Syphilis the symptoms of the disease do not usually become apparent until two to five years of age. In rare cases the disease may remain latent for years with symptoms not being diagnosed until well into adulthood. Symptoms of Congenital Syphilis may include inflammation and hardening of the umbilical chord, rash, fever, low birth weight, high levels of cholesterol at birth, aseptic meningitis, anemia, enlarged liver and spleen, jaundice (yellowish color of the skin), shedding of skin affecting the palms and soles, convulsions, mental retardation, inflammation around the bones, nasal discharge, hair loss, inflammation of the eye's iris, and pneumonia. (For more information on Congenital Syphilis choose "Syphilis, Congenital" as your search term in the Rare Disease Database.) Herpes Progenitalis is an infection of the genital skin caused by the herpes simplex virus. This infection is spread through sexual contact and lesions may appear within 4 to 7 days after contact. These lesions start out as blisters and may have a watery discharge. Both men and women may experience headaches, muscle aches and tender swollen lymph nodes in the groin. The blisters crust over and heal without treatment. Symptoms may last about 3 weeks. The disorder is contagious for up to two weeks after the lesions appear. The virus may remain latent and then reoccur at any time. There is no cure for this infection but lotions may be used to relieve pain, and the drug Acyclovir may prevent recurrent attacks. Pinta is an infectious disease caused by the microorganism treponema carateum. It is closely related to the microorganism which causes some other venereal diseases. Pinta is transmitted nonsexually and is characterized by rashes and discoloration of the skin. Small bumps develop and within several months reddish, scaly areas appear most often on the face, hands, and feet. It is common in the hot lowlands of Central and South America, but is rare in the United States. (For more information on this disease choose "Pinta" as your search term in the Rare Disease Database) Yaws is a nonvenereal infectious disease caused by the microorganism treponema pertenue which is related to syphilis. This disorder is common in children and is characterized by skin and bone lesions. Yaws is rarely found in the United States but is common among children in the humid tropics of Africa, South and Central America, the West Indies, and the Far East. (For more information on this disease choose "Yaws" as your search term in the Rare Disease Database.) Therapies: Standard Antibiotics are used to treat Acquired Syphilis. Penicillin is the treatment used most often. In some cases other antibiotics such as tetracycline or erythromycin may be used. Preventative treatment should be given to anyone who has been in sexual contact with an infected person within 90 days. It is very important that the patients history (especially sexual) be taken, and a battery of tests performed, in order to determine the stage of Syphilis affecting the patient. Therapies: Investigational This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Acquired Syphilis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 American Social Health Association 100 Capitola Dr., Suite 200 Research Triangle Park, NC 27713 (919) 361-8400 National Sexually Transmitted Diseases Hotline (800) 227-8922 Council for Sex Information and Education 444 Lincoln Blvd., Suite 107 Venice, CA 90291 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 For local treatment centers contact any state or local health department listed in your phone directory. These agencies can refer you to testing facilities for venereal diseases. References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1719-24. CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1713-22. Clinical Dermatology, 2nd Ed.: Thomas P. Habif, ed; The C.V. Mosby Company., 1990. Pp.222-28. Congenital Syphilis Presenting in Infants After the Newborn Period: D.H. Dorfman, and J.H. Glaser; N Engl Med; (Nov. 8, 1990, issue 323 (19)). Pp. 1299-302. Syphilis, Acquired 4pagetitle 842: Syphilis, Acquired 04248.TXT `,M,Copyright (C) 1991 National Organization for Rare Disorders, Inc. 841: Syphilis, Congenital _________________________ ** IMPORTANT ** It is possible that the main title of the article (Congenital Syphilis is not the name you expected. Please check the SYNONYMS listing to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Lues Information on the following diseases can be found in the Related Disorders section of this report: Bejel Epidermolysis Bullosa Ectodermal Dysplasias Jaundice Pinta Yaws General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not show up until several weeks or months after birth and in some cases they may take years to appear. Congenital Syphilis is passed on to the child from the mother who acquired the disease prior to or during pregnancy. The infant is more likely to have congenital syphilis when the mother has been infected during pregnancy although it is not uncommon for an infant to acquire congenital syphilis from a mother that was infected prior to pregnancy. Symptoms of early Congenital Syphilis include fever, skin problems and low birth weight. In Late Congenital Syphilis the symptoms of the disease do not usually become apparent until two to five years of age. In rare cases the disease may remain latent for years with symptoms not being diagnosed until well into adulthood. Symptoms Congenital Syphilis is acquired by the fetus when the treponema pallidum spirochete is present in the mother. Pregnant women with syphilis may have a reduction in estrogen while serum progesterone levels may increase. Symptoms of early congenital syphilis usually appear at three to fourteen weeks of age but may appear as late as age five years. Symptoms may include inflammation and hardening of the umbilical chord, rash, fever, low birth weight, high levels of cholesterol at birth, aseptic meningitis, anemia, monocytosis (an increase in the number of monocytes in the circulating blood), enlarged liver and spleen, jaundice (yellowish color of the skin), shedding of skin affecting the palms and soles, convulsions, mental retardation, periostitis (inflammation around the bones causing tender limbs and joints), rhinitis with an infectious nasal discharge, hair loss, inflammation of the eye's iris and pneumonia. Symptoms of Late Congenital Syphilis usually present themselves after age five and may remain undiagnosed well into adulthood. The characteristics of late congenital syphilis may be bone pain, retinitis pigmentosa (a serious eye disease), Hutchinson's triad which is characterized by peg-shaped upper central incisors (teeth), and interstitial keratitis which consists of blurred vision, abnormal tearing, eye pain and abnormal sensitivity to light, saddle nose, bony prominence of the forehead, high arched palate, short upper jawbone, nerve deafness and fissuring around the mouth and anus. Causes Congenital Syphilis is a chronic infectious disease caused by the spirochete treponema pallidum and transmitted by an infected mother to the fetus in the womb. Adults transmit syphilis through sexual contact. (For information on syphilis in adults choose "Syphilis" as your search term in the Rare Disease Database). Affected Population The incidence of congenital syphilis in newborns under a year old rose in the United States from 180 cases in 1957 to 422 cases in 1972. More recently there has been a dramatic increase of congenital syphilis especially in urban areas. This rise has been attributed to the use of "crack" cocaine and the increase in prostitution to support drug abuse. In New York City alone, the number of congenital syphilis cases rose from 57 cases in 1986 to 1,000 cases in 1989. Related Disorders Symptoms of the following disorders can be similar to those of Congenital Syphilis. Comparisons may be useful for a differential diagnosis: Bejel, or endemic syphilis, is an infectious disease caused by an organism (treponema pallidum II) related to and identical in appearance to that causing venereal syphilis. This infection causes lesions of the skin and bone and is common among children in the Mediterranean countries of the Middle East, northern Africa, parts of eastern Europe, Arabia, subsaharan Africa, and Southeast Asia. In the United States, however, it is rare. Bejel is transmitted by physical, non-sexual contact and the sharing of eating and drinking utensils. (For more information on this disease choose "Bejel" as your search term in the Rare Disease Database) Epidermolysis Bullosa is the name of a group of rare, hereditary skin diseases in which blisters (vesicles) develop usually following trauma. Severe forms of the disease may include involvement of the mucous membranes and may leave scars and contractures on healing. The shedding or absence of skin during infancy may be confused with the diagnosis of congenital syphilis. (For more information on Epidermolysis Bullosa choose "Epidermolysis" as your search term in the Rare Disease Database) Ectodermal Dysplasias are a group of hereditary, non-progressive skin diseases. The skin, it's derivatives, and some other organs are involved. A predisposition to respiratory infections, due to a somewhat depressed immune system, and to defective mucous glands in parts of the respiratory tract, is the most life threatening characteristic of this group of disorders. Symptoms include eczema, poorly functioning sweat glands, sparse or absent hair follicles, abnormal hair, disfigured nails, and difficulties with the nasal passages and ear canals. Skin is satiny smooth, prone to rashes, and slow to heal. Commonly, the teeth fail to develop properly. Other complications may include hearing deficit, loss of sight, mental retardation, limb abnormalities, cleft palate and lip, and urinary tract abnormalities. Allergies are common, as are bronchitis and pneumonia. (For more information on Ectodermal Dysplasias choose "Ectodermal" as your search term in the Rare Disease Database.) Jaundice is a yellow discoloration of the skin, tissues and certain body fluids caused by excess circulating bilirubin (reddish yellow pigment occuring in the urine, bile, blood and gallbladder). A wide range of liver disorders may cause jaundice. An evaluation based on physical examination, history, and routine laboratory tests will identify the cause of jaundice. Treatment of the underlying disorder is required. (For more information on diseases that cause Jaundice choose "Jaundice" as your search term in the Rare Disease Database). Pinta is an infectious disease caused by the microorganism treponema carateum and is closely related to the microorganism which causes some venereal disease. This disease is transmitted nonsexually and is characterized by rashes and discoloration of the skin. Small bumps develop and within several months reddish, scaly areas appear most often on the face, hands, and feet. It is common in the hot lowlands of Central and South America, but is rare in the United States. (For more information on this disease choose "Pinta" as your search term in the Rare Disease Database) Yaws is a nonvenereal infectious disease caused by the microorganism treponema pertenue which is related to syphilis. This disorder is common in children and is characterized by skin and bone lesions. Yaws is rarely found in the United States but is common among children in the humid tropics of Africa, South and Central America, the West Indies, and the Far East. (For more information on this disease choose "Yaws" as your search term in the Rare Disease Database.) Therapies: Standard Congenital syphilis is preventable. It occurs in infants who's mothers have not been treated for the disease prior to or during pregnancy. When the infection is very recent the disease may not show up in the infant. Therefore it is important to have the infant tested again later on if the mother has been diagnosed with syphilis. Serologic tests may be seronegative during pregnancy. Symptoms may then show up when the infant is 3-14 weeks of age. In these cases the mother probably acquired the infection during the later part of her pregnancy. The most effective treatment for syphilis in the mother, as well as congenital syphilis in the infant, is penicillin. In some cases other antibiotics may be used. Interstitial keratitis may be treated with corticosteroid drugs and atropine drops. An ophthalmologist should be consulted. If nerve deafness is present a combination of penicillin and corticosteroids may be prescribed. Therapies: Investigational This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Syphilis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 For local treatment centers contact any state or local health department listed in your area phone directory. These agencies can refer you to testing facilities for venereal diseases. References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1719. CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1718-19. MEDICAL ASPECTS OF DEVELOPMENTAL DISABILITIES IN CHILDREN BIRTH TO THREE; James A. Blackman, M.D., Editor; The University of Iowa, 1983. Pp. 72. Clinical Dermatology, 2nd Ed.: Thomas P. Habif, M.D. Ed; The Mosby Company., 1990. Pp. 228-9. THE EFFECTS OF SYPHILIS ON ENDOCRINE FUNCTION OF THE FETOPLACENTAL UNIT: C.R. Parker Jr., et al.; Am J Obstet. Gynecol; (Dec. 1988, issue 159 (6)). Pp. 1327-31. CONGENITAL SYPHILI PRESENTING IN INFANTS AFTER THE NEWBORN PERIOD: D.H. Dorfman, and J.H. Glaser; N Engl Med; (Nov. 8, 1990, issue 323 (19)). Pp. 1299-302. CONGENITAL SYPHILI IN THE NEWBORN: V. Chawla, P.B. Pandit, and F.K. Nkrumah; Arch Dis Child; (Nov. 1988, issue 63 (11)). Pp. 1393-4. UMBILICAL CHORD SCHLEROSI AS AN INDICATOR OF CONGENITAL SYPHILIS: S. Knowles, and T. Frost; J Clin Pathol; (Nov. 1989)). Pp. 1157-9. Syphilis, Congenitalc- f-pagetitle 841: Syphilis, Congenital 04249.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 382: Syringobulbia _________________________ ** IMPORTANT ** It is possible the main title of the article (Syringobulbia) is not the name you expected. Please check the SYNONYMS section to find other disorders covered by this article. Synonyms Information on the following diseases can be found in the Related Disorders section of this report: Syringomyelia Amyloid Neuropathy Arnold-Chiari Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Syringobulbia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the brain stem. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. Syringobulbia usually occurs as a slitlike gap within the lower brainstem that may affect the lower cranial nerves including sensory and motor nerve pathways by disruption or compression. Symptoms Syringobulbia may cause dizziness (vertigo), involuntary rapid movement of the eyeball (nystagmus), and loss of feelings of pain and temperature in the face. Atrophy and small local involuntary contractions (fibrillation) of the tongue muscle may also occur, as well as stuttering (dysphonia), and a shrill or harsh voice. Syringobulbia is a slowly progressive disorder. Porous bones (osteoporosis) may occur in long-standing cases. Causes Syringobulbia is most often a congenital disorder of unknown cause. In some cases the disorder may be inherited, but the mode of transmission is unknown. The disorder may be associated with an excess of a type of nerve cells that constitute the white matter of the brain (astrocytes) in damaged areas of the central nervous system, or the formation of cavities in the brainstem. Frequently, there is an association with an exposed spinal cord (spina bifida), an extra rib arising from a neck vertebra (cervical rib), or asymmetry of the skull. Affected Population Syringobulbia can affect persons of either sex. It usually occurs before 30 years of age. Related Disorders Syringomyelia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. The syrinx is situated near the middle of the spine. It usually begins in the neck (cervical) area, but may extend virtually along its whole length. (For more information on this disorder, choose "Syringomyelia" as your search term in the Rare Disease Database.) Amyloid Neuropathy is a hereditary disorder in which an abnormal glycoprotein, called amyloid, accumulates in the nervous system in amounts sufficient to impair its function. It often affects the elderly. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database.) The Arnold-Chiari Syndrome is characterized by a displacement of the brainstem into the spinal cord. Infants with the disorder may exhibit symptoms such as vomiting, mental impairment, and weakness. There may possibly be paralysis of the extremities. The Arnold-Chiari Syndrome usually appears in a milder form in adolescents. Swelling of the optic nerve region (papilledema), nystagmus, ataxia, transient abnormal sensations (paresthesias) and paralysis affecting the eyes or lower cranial nerves may also occur. (For more information on this disorder, choose "Arnold-Chiari" as your search term in the Rare Disease Database.) Neoplasms and vascular malformations in the brainstem may also cause neurological symptoms similar to those of Syringobulbia. Therapies: Standard An accurate diagnosis of Syringobulbia can be arrived at by using myelography, as well as MRI (magnetic resonance imaging). Intraoperative Sonography has been used during surgery to evaluate the effectiveness of the procedure as it is being performed. Other treatment of Syringobulbia is symptomatic and supportive. Radiation has not proven to be of any benefit in treatment of this disorder. Therapies: Investigational Plugging of the obex at the lower end of the fourth ventricle of the brain has been advocated by some for treatment of Syringobulbia, but the effects of this surgical procedure are hard to evaluate, since the natural course of the disorder is variable. Consideration of such radical experimental surgery should be carefully made. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Syringobulbia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Spinal Cord Injury 2201 Argonne Drive Baltimore, MD 21218 24-Hour Hotline, 1-800-526-3456 In Maryland, 1-800-638-1733 American Spinal Injury Association 250 E. Superior Street, Room 619 Chicago, IL 60611 (312) 649-3425 National Spinal Cord Injury Association 600 W. Cummings Park Woburn, MA 01801 References SYRINGOBULBIA AS A CAUSE OF LARYNGEAL STRIDOR IN CHILDHOOD: H. Alcala, et. al.; Neurology (NY) (September 1975: issue 25,9). Pp. 875-878. INFANTILE HYPOVENTILATION SYNDROME, NEURENTERIC CYST, AND SYRINGOBULBIA: H.D. Chung, et. al.; Neurology (NY) (April 1982: issue 32,4). Pp. 441-444. Syringobulbia pagetitle 382: Syringobulbia 04250.TXT "b"Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 381: Syringomyelia _________________________ ** IMPORTANT ** It is possible the main title of the article (Syringomyelia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Morvan Disease Information on the following diseases can be found in the Related Disorders section of this report: Syringobulbia Amyloid Neuropathy Arnold-Chiari Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Syringomyelia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. The syrinx is situated near the middle of the spine. It usually begins in the neck (cervical) area, but may extend across the spinal cord or virtually along its whole length. Symptoms Patients with Syringomyelia in the upper (cervical and thoracic) part of the spinal cord may first notice loss of feeling for pain and temperature in their fingers, hands, arms, and upper chest. In the early stages, a sense of touch is still present. A loss of feeling may spread over the shoulders and back like a cape. Sinking in of the eyeball, a drooping upper eyelid, slight elevation of the lower lid, constriction of the pupil, narrowing of the opening between the eyelids, absence of sweating and flushing of the affected side of the face (Horner syndrome; Bernard-Horner syndrome; Horner's ptosis) may also occur. Chronic progressive degeneration of the stress-bearing portion of a bone joint is another symptom of Syringomyelia (Charcot joint; neuropathic arthropathy). Reflexes in the upper extremities may be absent. Morvan disease is a severe form of Syringomyelia accompanied by ulceration of fingers and toes. When the lumbar and sacral segments of the spine are affected, spasticity, muscle weakness, and muscular incoordination (ataxia) in the lower extremities as well as paralysis of the bladder usually occur. Syringomyelia is a slowly progressive disorder. Erosion of the bony spinal canal may occur in long-standing cases, as well as increased porosity of the bones (osteoporosis). Joint contractures and progressive curvature of the spine (scoliosis) are other long-term symptoms. Causes Syringomyelia is most often a congenital disorder of unknown cause. In some cases the disorder may be inherited through autosomal dominant or recessive genes. However, it can also be caused by spinal cord injuries during any stage of life. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) The disorder is often associated with an excess of a type of nerve cells that constitute the white matter of the brain (astrocytes) in damaged areas of the central nervous system. Frequently, there is an association with an exposed spinal cord (spina bifida), an extra rib arising from a neck vertebra (cervical rib), or asymmetry of the skull. In some cases a tumor in the spinal cord may be found in conjunction with Syringomyelia. Affected Population Syringomyelia usually affects persons of either sex before 30 years of age. There are approximately 1,000 cases of this disorder identified in the United States each year. Related Disorders Syringobulbia is a similar neurological disorder characterized by a fluid-filled cavity (syrinx) within the brain stem. The cavity is a congenital lesion, but for unknown reasons it often expands during adolescence or the young adult years. Syringobulbia usually occurs as a slitlike gap within the lower brainstem that may affect the lower cranial nerves, sensory or motor nerve pathways by disruption or compression. (For more information on this disorder, choose "Syringobulbia" as your search term in the Rare Disease Database.) Amyloid Neuropathy is a hereditary disorder in which the abnormal glycoprotein "amyloid" accumulates in the nervous system and impairs its function. It often affects the elderly. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database.) Arnold-Chiari Syndrome is characterized by a displacement of the brainstem into the spinal cord. Infants with the disorder may exhibit symptoms such as vomiting, mental impairment, and weakness. The extremities may be paralyzed. Arnold-Chiari Syndrome usually appears in a milder form in adolescents. Swelling of the optic nerve region (papilledema), nystagmus, ataxia, transient abnormal sensations (paresthesias) and paralysis affecting the eyes or lower cranial nerves may also occur. (For more information on this disorder, choose "Arnold-Chiari Syndrome" as your search term in the Rare Disease Database.) Neoplasms and vascular malformations in the spinal cord may also cause neurological symptoms similar to those of Syringomyelia. Therapies: Standard An accurate diagnosis of Syringomyelia and the location of the syrinx can be arrived at by using imaging techniques such as delayed CT metrizamide myelography, or MRI (magnetic resonance imaging). Intraoperative Sonography (IOS) has been used during surgery to evaluate the effectiveness of the procedure as it is being performed. Treatment of Syringomyelia consists of connecting the fluid-filled cavity (syrinx) in the spinal cord with the abdominal cavity (syringo-peritoneal shunting) to drain the fluid. This procedure has been effective in reversing or arresting neurological deterioration in some patients. Radiation has not proven to be of any benefit in treatment of this disorder. Therapies: Investigational Cutting of the spinal cord and its central canal at the lower end (filum terminale) and decompression of the spinal cord have been advocated by some for treatment of Syringomyelia. However, the effects of these surgical procedures are hard to evaluate, since the natural course of the disorder is variable. Consideration of such radical experimental surgery should be carefully made. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Syringomyelia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Syringomyelia Alliance Project, Inc. P.O. Box 1586 Longview, TX 75606 (214) 759-2469 (800) ASAP-282 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References SURGICAL TREATMENT OF SYRINGOMYELIA. FAVORABLE RESULTS WITH SYRINGOPERITONEAL SHUNTING: N.M. Barbaro, et. al.; Journal of Neurosurgery (September 1984: issue 61,3). Pp. 531-538. POSTTRAUMATIC SYRINGOMYELIA: G.E. Dworkin, et al.; Archives of Physical and Medical Rehabilitation (May 1985: issue 66,5). Pp. 329-331. Syringomyelia #pagetitle 381: Syringomyelia 04219.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 356: Sialadenitis _________________________ ** IMPORTANT ** It is possible the main title of the article (Sialadenitis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Salivary Gland Infection Stone in Salivary Gland Sialolithiasis Information on the following diseases can be found in the Related Disorders section of this report: Mikulicz Syndrome Sjogren Syndrome Mixed Tumor of the Salivary Gland Periodic Sialadenosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sialadenitis is a disorder characterized by a stone in the salivary gland or duct. Painful swelling of the salivary gland may occur, and may be accompanied by infection. Symptoms Symptoms of Sialadenitis include enlargement, tenderness, and redness of one or more salivary glands. These are the glands in the mouth, located near the ear (parotid), under the tongue (sublingual), and under the jaw bone (submaxillary), plus numerous small glands in the tongue, lips, cheeks and palate. Salivary stones (calculi) may block secretions from any of these glands. The gland may sometimes become infected, leading to fever and other complications. Sometimes an abnormal passage from the salivary duct to the cheek (salivary fistula) is formed, or the pus collects in a cavity (abscess). Most often, the abnormally enlarged salivary gland can be detected through touch by a dentist or doctor. Causes The cause of Sialadenitis, or the reasons why some people develop stones in the salivary gland, is unknown. Sometimes, the stone may be associated with an infection by Streptococcus or other bacteria. Ingestion of potassium iodide or mercury may also cause this disorder, but in most cases the cause is unknown. Affected Population Sialadenitis may affect persons of both sexes at any age, and is not very rare. Related Disorders Mikulicz Syndrome is a benign chronic lymphocytic infiltration and enlargement of the tonsils and salivary glands near the ear (parotid gland), beneath the upper jaw bone (submaxillary), tear (lacrimal) and other glands. This condition causes excessive dryness of the mouth and eyes and is often related to Sjogren's Syndrome. (For more information on this disorder, choose "Mikulicz" as your search term in the Rare Disease Database.) Sjogren Syndrome is a degeneration of the tear and salivary glands that may be associated with arthritis. Patients often complain of a gritty, burning sensation in their eyes due to loss of lubrication. When their mouths become dry, chewing and swallowing food is difficult. The lack of saliva causes particles of food to stick to the cheeks, gums, and throat. Other symptoms may include a weak voice, dental decay, dryness of the nose, skin and vagina. (For more information on this disorder, choose "Sjogren" as your search term in the Rare Disease Database.) Mixed Tumor of the Salivary Gland (Pleomorphic Adenoma of the Salivary Gland) is a slowly growing, benign tumor of unknown origin. It is usually located in the parotid salivary glands. Onset of the disorder is slow, but later the tumor tends to grow rapidly. Paralysis of the facial muscles is a rare complication. Sometimes pain occurs in conjunction with the tumor. This disorder tends to be familial and can occur in multiple family members. Periodic Sialadenosis (Periodic Sialorrhea, or Recurring Salivary Adenitis) is a disorder of unknown cause, possibly of autosomal dominant inheritance. It is characterized by sudden discomfort in the region of the salivary glands near the ear and jaws. An unusually large flow of saliva may occur. The outer ear sometimes appears distorted. Therapies: Standard Initial treatment of Sialadenitis involves filling the gland with water (hydration) and massaging it to help move the stone out of the gland. Antibiotic and steroid drugs have been used to treat secondary symptoms. To treat a recurrent infectious Sialadenitis, surgical removal of the salivary gland may be necessary. This operation may be difficult, since scar tissue may cause complications. Alternative treatment methods have been used, such as radiation, tying the salivary duct, or cutting the tympanic nerve to induce shrinkage of the gland. Therapies: Investigational For treatment of the chronic, recurrent form of Sialadenitis a new experimental method is being investigated. The procedure consists of instilling an amino-acid or protein solution in the salivary duct. This solution hardens in the duct, inducing a reduction or elimination of salivary gland tissue. The hardened protein is later reabsorbed. Some patients have been successfully treated by this method, but more research is needed. This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sialadenitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 References SALIVARY GLANDS: J.R. Saunders, Jr. et al.; Surgical Clinics of North America (February 1986: issue 66,1). Pp. 59-81. PAROTID GLAND ATROPHY INDUCED BY OCCLUSION OF THE DUCTAL SYSTEM WITH A PROTEIN SOLUTION: G. Rettinger et al.; American Journal of Otolaryngology (May-June 1984: issue 5,3). Pp. 183-190. Sialadenitis pagetitle 356: Sialadenitis 04220.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 302: Sialidosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Sialidosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cherry Red Spot - Myoclonus syndrome Mucolipidosis I ML I Lipomucopolysaccharidosis Type I DISORDER SUBDIVISIONS Sialidosis Type I Sialidosis Type II General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. The Mucolipidoses (ML II & ML III) are a family of hereditary disorders in which enzyme deficiencies cause both complex carbohydrates (mucopolysaccharides) and certain fatty substances (mucolipids) to accumulate in body tissues without excess mucopolysaccharides in the urine. (For more information on the mucolipidoses, choose "ML Disorder" as your search term in the Rare Disease Database.) Sialidosis (previously called Mucolipidosis I) is a very rare recessive hereditary disorder caused by decreased activity of the enzyme gamma-neuraminidase. Patients have normal urinary mucopolysaccharides, elevated urinary oligosaccharides containing salic acid, mild mental retardation, cherry-red spots on the retina (interior back portion of the eyeball), and signs of neurological involvement in older children. Two forms of Sialidosis are known. Sialidosis Type I has primary eye and muscle involvement (myoclonus). Sialidosis Type II has eye and muscle involvement plus mild coarsening of the face, skeletal changes and mild mental retardation. Symptoms Sialidosis (Lipomucopolysaccharidosis Type I) is characterized by moderate developmental retardation which usually occurs during late infancy. As the disease progresses, the children manifest short stature with a disproportionately short trunk, an enlarged liver and spleen (hepatosplenomegaly), hernias, moderate to severe mental retardation, impaired hearing and cherry-red macular spots on the retina of the eye. Progressive loss of vision, often severe, may be associated with impaired color vision or night blindness. After about 5 years, there are progressive signs of a dysfunction of the white matter of the nervous system such as seizures with shocklike muscular contractions (myoclonus); decreased muscle strength; diminished tonus of the muscles (hypotonia); uncoordinated movements (ataxia); tremor; rapid movements of the eyeballs (nystagmus); irregular reflexes; and reduced nerve conduction velocity. In older patients, the electro-encephalogram (EEG) shows peculiar complexes of high-frequency polyspikes and sharp waves. Generalized abnormal bone development occurs. Opacities of the cornea of the eye may sometimes develop. Causes Sialidosis is an autosomal recessive inherited disorder in which the activity of the enzyme gamma-neuraminidase is deficient. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Sialidosis affects males as often as females. Siblings of patients have a 1 in 4 chance to be affected. Therapies: Standard Carriers of Sialidosis can be detected by an enzyme assay in cultured fibroblasts, making prenatal diagnosis possible. Genetic counseling is advised for families affected by this disorder. Treatment of Sialidosis is symptomatic and supportive. Seizures may be controlled by a variety of anticonvulsant medications. Therapies: Investigational Since prenatal diagnosis is now possible through amniocentesis and sampling of a tissue layer in the embryo (chorionic villus sampling), new treatments aimed at checking early development of Sialidosis are now under investigation. One method involves replacing defective enzymes via enzyme replacement therapy and/or bone marrow transplants. Scientific study of gene replacement in animal models raises the hope that gene replacement therapy may someday be made available to people with genetic disorders such as Sialidosis. This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sialidosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 MPS (Mucopolysaccharidoses) Research Funding Center, Inc. 1215 Maxfield Road Hartland, MI 48029 (313) 363-4412 The MPS Society, Inc. 17 Kramer Street Hicksville, NY 11801 (516) 931-6338 Society of Mucopolysaccharide Diseases, Inc. 382 Parkway Blvd. Flin Flon, Manitoba, Canada R8A 0K4 Society of MPS Diseases 30 Westwood Drive Little Chalfont, Bucks, England National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References BIRTH DEFECTS COMPENDIUM, 2d ed.: Daniel Bergsma, ed.; March of Dimes, 1979. P. 724. MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A. McKusick; Johns Hopkins University Press, 1983. Pp. 832-833. Sialidosis pagetitle 302: Sialidosis 04221.TXT :Copyright (C) 1984, 1985, 1987, 1989, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 25: Sickle Cell Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Sickle Cell Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Sickle Cell Anemia Sickle Cell Trait DISORDER SUBDIVISIONS: Sickle Cell-Hemoglobin C Disease Sickle Cell-Hemoglobin D Disease Sickle Cell-Thalassemia Disease Information on the following diseases can be found in the Related Disorders section of this report: Hereditary Spherocytic Hemolytic Anemia Thalassemia Major (Cooley's Anemia) Thalassemia Minor General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sickle Cell Disease is a rare inherited blood disorder. It is characterized by the presence of sickle or crescent shaped red blood cells (erythrocytes) in the bloodstream. These abnormally shaped cells become rigid and lodge themselves in the very tiny blood vessels (capillaries) of the peripheral blood system (blood vessels outside of the heart). The capillaries become clogged, preventing the normal flow of oxygen to tissues. Sickle Cell Disease has several recognized forms including Sickle Cell Anemia, Sickle Cell Hemoglobin C Disease and Sickle Cell Thalassemia Disease. Symptoms Symptoms of Sickle Cell Disease develop due to the low level of hemoglobin in the red blood cells (erythrocytes) and a resulting inability of the blood to supply oxygen to the tissues of the body. Sickle Cell Disease is characterized by sudden acute attacks of pain particularly in the chest, painful inflammation of the fingers or toes (sickle cell dactylitis), a lingering upper respiratory infection and/or a pale color of the tongue and lips. Other symptoms may include: irritability; crying; poor eating habits; an enlarged spleen (splenomegaly); an enlarged liver (hepatomegaly); yellow color to the skin (jaundice); stroke; a yellow appearance of the eyeballs (scleral icterus); and/or heart murmurs. The symptoms of Sickle Cell Disease typically begin in the first 3 years of life. In children ages 3 to 5, the signs of the disease are often pain in the chest, abdomen, limbs and joints. Joint pain generally follows exposure to cold, overexertion, infection and/or dehydration. Joint pain is usually not accompanied by joint swelling. Children with Sickle Cell Disease may grow slowly and have many nosebleeds. In adolescents and young adults the symptoms of Sickle Cell Disease may include severe joint pain, delayed puberty, progressive anemia, leg sores, nosebleeds and/or dental disease. Kidney disease and a scarring of retinal tissues of the eyes may also occur. Occasionally Sickle Cell Disease may cause a loss of bone, particularly the top of the thigh bone (osteonecrosis of the femoral head). The loss of bone may cause pain in the joints when walking, standing and/or lifting. Cardiac symptoms may also occur in people with Sickle Cell Disease including a rapid heart beat (tachycardia), heart murmurs and/or other heart problems. Sickle Cell Disease may also appear in people over 20 years of age. When Sickle Cell Disease occurs in adulthood people generally experience pain in the chest, abdomen, limbs and/or joints. These painful episodes may become less frequent with advancing age. Leg sores, inflammation of the retina (retinitis) of the eyes, and gallbladder disease are often present. Both Sickle Cell-Thalassemia Disease and Sickle Cell-Hemoglobin C Disease are milder forms of Sickle Cell Disease. The symptoms of Hemoglobin C Disease occur later in life than those of Sickle Cell Disease. Causes Sickle Cell Disease is a rare blood disorder that is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. People who inherit only one sickle cell gene are said to have "sickle cell trait" and are generally symptom free carriers who can pass the gene on to their offspring. However, people with Sickle Cell Disease must inherit two genes for sickle cell (one from each parent) in order to get the disease. Affected Population Sickle Cell Disease affects 0.6 percent of the African American population in the United States (approximately 50,000 cases in the United States). The sickle cell trait is present in approximately 40 percent of the general population in some areas of Africa. The incidence of sickle cell trait in Americans of African descent is 9 percent. Americans whose ancestry is Asiatic Indian, Italian, Greek or Mediterranean may also be affected by Sickle Cell Disease. Related Disorders Symptoms of the following disorders can be similar to those of Sickle Cell Disease. Comparisons may be useful for a differential diagnosis: Hereditary Spherocytic Hemolytic Anemia is a rare inherited disorder of the blood that causes the red blood cells to become sphere-shaped making it difficult for them to circulate through the spleen. This causes excessive red blood cell destruction. The symptoms of Hereditary Spherocytic Hemolytic Anemia may be present at birth or not be apparent for years. In many people the symptoms are so mild that the disease is not recognized. Symptoms may include fatigue and a yellow or jaundice appearance to the skin. Generally the spleen is enlarged resulting in abdominal discomfort. An infection is the most common trigger of an anemic crisis (dangerously low levels of red blood cells in the blood). Trauma or pregnancy may worsen the anemic crisis. The child may experience fever, headache, loss of appetite, vomiting, leg sores, and general weakness. Some children experience nosebleeds. (For more information on this disorder, choose "Hereditary Spherocytic Hemolytic Anemia" as your search term in the Rare Disease Database.) Thalassemia Major (Cooley's Anemia or Mediterranean Anemia) is characterized by a marked increase in F hemoglobin, a decrease of proteins within hemoglobin and an abnormally low level of red blood cells. Thalassemia Major is the most severe form of chronic familial hemolytic anemias and is primarily in people with Mediterranean ancestry. The onset of symptoms is usually rapid and may occur during infancy or early childhood. Symptoms may include generalized weakness, overall feeling of illness (malaise), an upset stomach (dyspepsia), heart palpitations, a yellow color to the skin (jaundice) and/or leg sores. Other symptoms may include an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly), inflammation of the gall bladder (cholelithiasis), and/or an enlarged abdomen. Children with Thalassemia Major may have heart problems and they may be short for their age due to bone problems. (For more information on this disorder, choose "Thalassemia Major" as your search term in the Rare Disease Database). Thalassemia Minor is a relatively mild form of anemia that is typically present at birth. It is inherited as an autosomal recessive genetic trait. Constant fatigue may be the only symptom of this disorder. However, if anemia becomes severe, the spleen may become slightly enlarged (splenomegaly) and there may be a pale color to the skin. Occasionally a child with Thalassemia Minor may complain of pain in the left upper side of the abdomen. This disorder may be aggravated by stress, infections, malnutrition, and/or pregnancy. (For more information on this disorder, choose "Thalassemia Minor" as your search term in the Rare Disease Database). Other types of anemias include: Aplastic Anemia; Hereditary Non-Spherocytic Hemolytic Anemia; Megablastic Anemia; Warm Antibody Hemolytic Anemia; Cold Antibody Hemolytic Anemia; Acquired Autoimmune Hemolytic Anemia; Pernicious Anemia; Folic Acid Deficiency Anemia; Blackfan-Diamond Anemia; and Fanconi's Anemia. For information on other types of Anemias, choose "Anemia" as your search term on the Rare Disease Database. Therapies: Standard The treatment of Sickle Cell Disease is symptomatic and supportive. People with Sickle Cell Disease must get regular medical checkups, avoid chills, dress warmly, eat nutritionally balanced meals, get adequate sleep, avoid standing in the cold without exercising, and practice deep breathing for 5 minutes before going to sleep. Vaccination against pneumococcal infections may be given to children over the age of 2 years. There are two tests that are used to screen for Sickle Cell Disease. Umbilical cord blood screening is used to detect Sickle Cell Disease in newborns. Hemoglobin testing (electrophoresis) can detect the major varieties of Sickle Cell Disease. Genetic counseling will be of benefit for patients and their families. Genetic testing can determine if a person is carrying the Sickle Cell trait. In general if a couple both have the Sickle Cell trait they have a 25 percent chance of having a child with Sickle Cell Disease. Therapies: Investigational Research is ongoing into ways of increasing the levels of fetal hemoglobin in people with Sickle Cell Disease. One drug being tested is Hydroxyurea (trade name Hydrea), which is ordinarily used to treat leukemia. This drug is manufactured by Bristol-Myers Squibb Co., Evansville, IN. The flavor enhancer butyrate (a natural fatty acid) is currently being tested for treatment of Sickle Cell disease. Researchers have found that when injected into the bloodstream, butyrate turns on a gene that typically shuts down before birth. Butyrate is a natural substance that when eaten has no effect but when injected achieves an increase in healthy levels of hemoglobin. More research is needed to prove the effectiveness of this treatment. Researchers are also investigating danazol for use as a treatment for Sickle Cell Disease. This drug is a gonadotropin secretion inhibitor that may make sickle cell erythrocytes more flexible and better able to flow through very small capillaries. This drug is being tested by Dr. William Harrington of the University of Miami School of Medicine. Research is in preliminary stages and extensive investigations are needed to determine safety and effectiveness. Poloxamer 188, N.F. (RheothRx Copolymer) is a new orphan drug being investigated as a treatment for acute episodes of pain due to Sickle Cell Disease (sickle cell anemia crisis). Poloxamer 188, N.F. is manufactured by: CytRx Corp. 150 Technology Parkway Technology Park/Atlanta Norcross, GA 30092 Studies are being conducted on the use of immunoglobulin (Sandoglobulin) as a possible treatment for Sickle Cell Disease. The safety and effectiveness of this treatment are not yet known. The orphan drug OM 491 (Drepanol) is being tested as a treatment for Sickle Cell Disease. It is sponsored by: Omex International, Inc. 6001 Savoy, Suite 110 Houston, TX, 77036 Clinical trials are underway to study the drug combination of Erythropoietin (EPO) and Hydroxyurea in Sickle Cell Anemia. Interested persons may wish to have their physician contact: Samuel Carache Johns Hopkins Hospital 600 N. Wolfe St. Baltimore, MD 21205 (301) 955-6315 This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sickle Cell Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Association for Sickle Cell Disease, Inc. 3345 Wilshire Blvd., Suite 1106 Los Angeles, CA 96010 (213) 736-5455 (800) 421-8453 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Cooley's Anemia Foundation, Inc. 105 East 22nd St. New York, NY 10010 (212) 598-0911 (800) 522-7222 (New York state) (800) 221-3571 (all other states) The Canadian Sickle Cell Society 1076 Bathurst Street, Suite 305 Toronto, Ontario M5R 3G9 Canada For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 149, 152, 936-42. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1120. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 481-483. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 888-893. HEMATOLOGY, 4th Ed.: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 614-625. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1658-1660. Research Resources Reporter, National Institutes of Health, June 1991. Pp. 10-11. MANAGEMENT OF PATIENTS WITH SICKLE CELL DISEASE, R. Steingart; Med Clin North Am (May 1992; 76(3)): Pp.669-680. SICKLE CELL ANEMIA AND MAJOR ORGAN FAILURE, D.R. Powers; Hemoglobin (1990; 14(6)): Pp. 573-598.573-598. Sickle Cell Disease ;pagetitle 25: Sickle Cell Disease 04222.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 487: Simian B Virus Infection _________________________ ** IMPORTANT ** It is possible the main title of the article (Simian B Virus) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Herpesvirus Simiae, B Virus H Simiae Encephalomyelitis Monkey B Virus Information on the following diseases can be found in the Related Disorders section of this report: Acute Disseminated Encephalomyelitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Simian B Virus Infection is caused by a type of herpesvirus. It is an infectious disorder contracted chiefly by laboratory workers exposed to infected monkeys and/or simian tissue cultures. It is characterized by a viral invasion of the brain (Encephalitis) and the membranes (meninges) surrounding the brain. Occasionally, the infection affects the spinal cord structures as well (Encephalomyelitis). Neurological damage may result from this infection. Without treatment, some cases of Simian B Virus may be life-threatening. Symptoms Simian B Virus Infection is characterized by fever, headache, vomiting, discomfort (malaise), and a stiff neck and back. These symptoms may be associated with neuromuscular dysfunction, respiratory difficulties, vision problems, cranial nerve abnormalities, alteration of consciousness, personality changes, seizures and/or partial paralysis (paresis). Some patients may go into a coma. Causes Simian B Virus Infection is caused by exposure to infected monkeys and/or simian tissue cultures of the virus, usually in laboratory settings. Affected Population Simian B Virus Infection usually affects laboratory workers bitten or scratched by infected monkeys, or those exposed to virus infected simian tissue cultures. According to one study, an estimated twenty-four cases of the disorder occurred between 1932 and 1972 in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Simian B Virus. Comparisons may be useful for a differential diagnosis: Acute Disseminated Encephalomyelitis is an infection of the nervous system characterized by headache, irritability, vomiting, drowsiness, light-sensitivity, difficulty in swallowing, lockjaw, incontinence, and diminished or exaggerated skin sensations. This disorder can be caused by viral infections acquired from sources other than Simian B Virus infected monkeys. It may be an allergic or toxic response of the nervous system to invading organisms such as bacteria or viruses. Neurological damage and intellectual impairment can follow an attack of this condition. (For more information on this disorder, choose "Encephalomyelitis" as your search term in the Rare Disease Database). Therapies: Standard Prevention of infection with Simian B Virus among laboratory workers should include wearing protective clothing when handling potentially infected monkeys or their tissue cultures. The antiviral drug acyclovir may be effective against Simian B Virus infection. Other treatment is symptomatic and supportive. Therapies: Investigational Formalin-activated vaccine is under investigation as a possible measure to prevent Simian B Virus infection. More research is necessary before this therapy can be made available for general use by laboratory workers exposed to infected monkeys. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Simian B Virus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References B VIRUS, HERPESVIRUS SIMIAE: HISTORICAL PERSPECTIVE: A.E. Palmer; J Med Primatol (1987, issue 16(2)). Pp. 99-130. THE SPECTRUM OF ANTIVIRAL ACTIVITIES OF ACYCLOVIR IN VITRO AND IN VIVO: P. Collins; J Antimicrob Chemother (September 1983, issue 12 Suppl B). Pp. 19-27. SUCCESSFUL TREATMENT OF EXPERIMENTAL B VIRUS (HERPESVIRUS SIMIAE) INFECTION WITH ACYCLOVIR: E.A. Boulter, et al.; Br Med J (March 8, 1980, issue 280(6215)). Pp. 681-683. Simian B Virus InfectionG pagetitle 487: Simian B Virus Infection 04223.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 777: Sirenomelia Sequence _________________________ ** IMPORTANT ** It is possible that the main title of the article (Sirenomelia Sequence) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mermaid Syndrome Sirenomelus Information on the following diseases can be found in the Related Disorders section of this report: Caudal Regression Syndrome (Caudal Dysplasia Sequence) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sirenomelia Sequence is a birth disorder in which a child is born with a single lower extremity or with two legs that are fused together. However, due to the wide range of possible physical deformities that can occur, no two cases of Sirenomelia Sequence are ever exactly the same. Symptoms Sirenomelia Sequence is characterized by irregular development of the lower limbs. The deformity appears at birth (congenital) usually as a single lower extremity or as two legs that are joined together. Accompanying malformations of the spine and skeletal system, with vertebrae either absent or defective commonly occur. The internal and external sex organs, rectum, kidneys and/or bladder may also be missing or underdeveloped. The rectal opening (anus) may be completely closed (imperforate), and other abnormalities of the lower gastrointestinal tract are often present. Causes The cause of Sirenomelia Sequence is unknown. It is believed to result from irregularities in early development of the blood circulating system (vascular system) within the embryo. Individuals with Sirenomelia Sequence have been found to have a single large artery arising from high in the abdominal cavity without the usual two umbilical arteries which normally branch out of the lower part of the aorta and carry blood to the tail (caudal) end of the embryo. The single artery present (called a "steal" vessel since it essentially steals blood from the lower portion of the embryo) diverts the flow of blood which normally circulates from the aorta (vitelline artery) through the umbilical arteries to lower points of the embryo, throughout the yolk sac and on to the placenta. Instead, the steal vessel redirects the blood flow to the placenta without ever reaching the tail (caudal) end of the embryo. As a result of this rerouted blood flow, the steal vessel also diverts nutrients away from the blood-deprived portion of the embryo. Arteries in this caudal area are underdeveloped and tissues dependent upon them for nutrient supply fail to develop, are malformed, or arrest their growth in some incomplete stage. In individuals with Sirenomelia, the lower limb bud of the embryo fails to divide into two legs. Affected Population Sirenomelia Sequence occurs once in every 60,000 to 100,000 births. Related Disorders Symptoms of the following disorder can be similar to those of Sirenomelia Sequence. Comparisons may be useful for a differential diagnosis: Caudal Regression Syndrome, also called Caudal Dysplasia Sequence, is characterized by abnormal development of the tail (caudal or distal) end region of the embryo. Abnormalities associated with Caudal Regression Syndrome may include incomplete development of the vertebrae, flattening of the buttocks, disruption of the distal spinal cord resulting in neurological impairment and an inability to control urination and bowel movement (incontinence). There may be extreme lack of growth in the caudal region. Less common abnormalities may include absence of kidneys, cleft lip, cleft palate, microcephaly and closed (imperforate) anus. Therapies: Standard Sirenomelia Sequence can be detected in a fetus during the second trimester of pregnancy by ultrasound. Recently, surgery has been successful in separating joined legs. In preparation for surgery, balloon-like tissue expanders are inserted under the skin. When they are filled with a salt solution over a period of time, the balloons expand making the skin stretch and grow. The excess skin is then used to cover the legs once they are separated. Other treatment is symptomatic and supportive. Prognosis depends on the extent of involvement of the gastrointestinal system, vertebrae and other structural deformities. Therapies: Investigational This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sirenomelia Sequence, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Company, 1988. Pp. 574-575. PRENATAL DIAGNOSIS OF SIRENOMELIA. M. Sitori et al.; J ULTRASOUND MED (February, 1989: issue 8 (2)). Pp. 83-88. SIRENOMELIA. ANGIOGRAPHIC DEMONSTRATION OF VASCULAR ANOMALIES. G. Malinger et al.; ARCH PATHOL LAB MED (July, 1982; issue 106 (7)). Pp. 347-348. VASCULAR STEAL: THE PATHOGENETIC MECHANISM PRODUCING SIRENOMELIA AND ASSOCIATED DEFECTS OF THE VISCERA AND SOFT TISSUES. R.E. Stevenson et al.; PEDIATRICS (September, 1986: issue 78 (3)). Pp.451-457. Sirenomelia SequenceC pagetitle 777: Sirenomelia Sequence 04224.TXT 5Copyright (C) 1992 National Organization for Rare Disorders, Inc. 6: Sjogren Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Sjogren Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Dacryosialoadenopathia atrophicans Gougerot-Houwer-Sjogren Gougerot-Sjogren Keratoconjunctivitis Sicca Keratoconjunctivitis sicca-xerostomia Secreto-inhibitor-xerodermostenosis Sicca Syndrome Xerostomia Information on the following diseases can be found in the Related Disorders section of this report: Mikulicz Syndrome Fibromyalgia Keratomalacia Ligneous Conjunctivitis Lupus (Systemic Lupus Erythematosus or SLE) Rheumatoid Arthritis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sjogren syndrome is an autoimmune disorder characterized by degeneration of the mucous-secreting glands, particularly the tear ducts of the eyes (lacrimal) and saliva glands of the mouth. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack healthy tissue. It is also associated with inflammatory disorders such as arthritis or Lupus. Symptoms Sjogren Syndrome generally has a sudden onset. Primary Sjogren Syndrome is characterized by inflammation of the cornea of the eyes and the delicate membranes that line the eyelids (keratoconjunctivitis) due to insufficient tear production, and dryness of the mouth (sicca xerostemia) due to lack of saliva from the salivary glands. In secondary Sjogren syndrome, dry eyes and/or mouth may occur with diseases of the tissue that holds together and supports different structures of the body (connective tissue disease). Most often rheumatoid arthritis (RA), Lupus or other autoimmune diseases are present with secondary Sjogren syndrome. Most patients with Sjogren syndrome have the primary type of Sjogren syndrome. The onset of symptoms is usually sudden. Decreased production of saliva and the resulting dry mouth make chewing and swallowing food difficult. The lack of saliva causes pieces of food to stick to the cheeks, gums and throat. Teeth decay easily, leading to cavities (dental caries), inflammation of the gums (gingivitis) and advanced gum disease (pyorrhea). As the tear ducts of the eyes (lacrimal glands) waste away (atrophy), the amount of tears produced decreases, causing a feeling of grittiness and burning in the eyes. The eyelids may stick together, glands under the jaw may be swollen and painful, and gastrointestinal symptoms may occur. Dryness may extend to the skin and to the mucous membranes lining the nose, throat and vagina. Muscle pain and weakness may also occur (Fibromyalgia). In secondary Sjogren syndrome, patients may experience arthritis, rash (palpable purpura) on the lower extremities, and light sensitive rashes (photosensitive dermatitis) on the face, arms and other exposed areas. Fever and neurologic symptoms may occur. Patients with systemic Sjogren Syndrome (symptoms in addition to the eyes and mouth) usually have blood tests that are positive for certain antibodies (anti-nuclear antibodies to Ro and La antigens). Antibodies are substances made by the body that defend the body against bacteria, viruses, or other foreign invaders (antigens). All patients suspected of having Sjogren syndrome should be examined by an ophthalmologist, a physician who specializes in the care and treatment of eyes. Patients with Sjogren Syndrome who have positive blood tests for anti-Ro antibodies should be evaluated by a physician who specializes in the care and treatment of inflammatory diseases (rheumatologist) for evidence of disease outside of the eyes and mouth (extra-glandular involvement). Causes Sjogren syndrome is an autoimmune disorder. It has no known cause. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack healthy tissue. People with Sjogren syndrome often have a genetic predisposition (HLA-DR3). A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease. Secondary Sjogren syndrome often occurs in patients with rheumatoid arthritis, systemic lupus erythematosus and other connective tissue diseases. Affected Population Sjogren syndrome affects 9 females to every male. Ninety percent of women with the disorder have already gone through menopause (post-menopausal), although symptoms may be apparent at an earlier age. Recent data suggests that men who show symptoms of HIV infection may develop a syndrome similar to Sjogren's. Related Disorders Symptoms of the following disorders can be similar to those of Sjogren Syndrome. Comparisons may be useful for a differential diagnosis: Mikulicz Syndrome is a benign chronic disorder that causes the enlargement of the tonsils, the saliva glands located near the ear (parotid), the glands beneath the upper jaw bone (submaxillary), glands that produce tears (lacrimal glands), and the salivary glands of the mouth. Symptoms may include dryness of the mouth, difficulty swallowing and tooth decay. There may be absent or decreased tears and blurred vision. (For more information on this disorder, choose "Mikulicz Syndrome" as your search term ion the Rare Disease Database). Keratomalacia is an eye disease caused by a deficiency of vitamin A. Vitamin A (retinol) is found mainly in fish liver oils, liver, egg yolk, cream and butter. The human body stores vitamin A mainly in the liver. Once it is released by the liver, vitamin A is converted to light sensitive pigments in the retina of the eye which is involved in night, day and color vision. Vitamin A also helps to maintain healthy body tissues. A lack of Vitamin A may cause night blindness, abnormal dryness of the inner surface of the eyelid (xerosis) and the transparent covering of the eyes (cornea). This dryness may result in a feeling of grittiness in the eyes and a painful sensitivity to light (photophobia). (For more information on this disorder, choose "Keratomalacia" as your search term in the Rare Disease Database). Ligneous Conjunctivitis is a rare disorder that is characterized by lesions in the mucous producing membranes especially of the eye. This disorder usually presents itself in childhood. Mucous membranes of the voice box (larynx), vocal chords, nose, trachea, wind pipe, vagina, cervix and gums (gingiva) may also be affected. The lesions in the membranes have a "wood-like" (ligneous) texture. They are thick, firm, knotty and tough. The cause of this disorder is not known although there have been some cases that suggest an autosomal recessive genetic inheritance. (For more information on this disorder, choose "Ligneous Conjunctivitis" as your search term in the Rare Disease Database). Fibromyalgia is a chronic muscle disorder characterized by muscle pain throughout much of the body. This may begin gradually or have a sudden onset. Other symptoms include muscle spasms, fatigue, muscle tissue stiffness and unrefreshing (non-restorative) sleep. The exact cause of this disorder is not known. Some patients with Fibromyalgia may have chest pain, headaches, diarrhea, constipation, dryness in the eyes and mouth (Sjogren syndrome), swelling of a tendon (tendinitis), or swelling of the connective tissue surrounding a joint (bursitis). (For more information on this disorder, choose "Fibromyalgia" as your search term in the Rare Disease Database). Lupus (Systemic Lupus Erythematous or SLE) is a multi-system inflammatory disease of the connective tissue of the body. Sjogren syndrome may occur in conjunction with Lupus. Fatigue is an early and frequent symptom. Other symptoms may include fever, swollen glands, skin rash, profound weight loss, headaches, hair loss (alopecia) and water retention (edema). Arthritis, joint and muscle pain occurs in 90 percent of the cases. These symptoms may occur years before the illness is actually diagnosed. The arthritis symptoms come and go and tend to appear most often in either knees, fingers, or wrist joints. There is no bone loss associated with this joint involvement. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database). Rheumatoid Arthritis (RA) is an autoimmune inflammatory disorder. It's cause is unknown. It is characterized by morning stiffness and arthritis mainly in the hands, wrists, knees, feet, shoulders and hips. Once a joint is involved, it may remain painful for weeks, months, and even years. About 25 percent of RA patients also have Sjogren syndrome (secondary). (For more information on this disorder, choose "Rheumatoid Arthritis as your search term in the Rare Disease Database). Therapies: Standard A number of tests are available for the diagnosis of Sjogren syndrome. They include a careful examination of the eyes, including the measurement of tear production; measurement of saliva production after stimulation with lemon juice; X-ray of the glands under the jaw and ears (parotid glands); examination of the cells of the lip to determine if a special type of small white blood cells (lymphocytes) are present in the salivary glands (biopsy); blood tests (including ANA anti-nuclear antibody and Immunoglobulin levels or Ig levels). An ophthalmologist or a rheumatologist should be contacted for testing. Treatment of Sjogren syndrome is dependent on symptoms and usually is much the same as for other autoimmune disorders. No treatment, however, has yet been found to restore the secretions of the glands involved. The insufficient secretions can be replaced by artificial tears in the form of eye drops, artificial saliva which can be used to wet the mouth, and vaginal lubricants. Medications such as corticosteroids, anti-inflammatory drugs or cytoxan may be needed for certain complications. Therapies: Investigational Medical research is seeking to determine the exact cause of this disorder, as well as development of new treatments. The National Institute of Dental Research (NIDR) is conducting studies on several drugs for treatment of Sjogren Syndrome. Patients interested in participating in these studies should ask their physician to contact: Alice Macynski, RN NIH/National Institute of Dental Research (NIDR) 9000 Rockville Pike Bldg. 10, Rm. 1B-21 Bethesda, MD 20892 (301) 496-4371 Bromhexine is a drug used in Europe and Canada for the treatment of Sjogren syndrome. However no clinical trials are underway in the United States. Trials of the drug Pilocarpine for treatment of dry mouth has been suggested by researchers. The drug increases the salivary flow rate in test subjects. The immune suppressive drug, Cyclosporine, is being developed as a special formulation for use as an eye medication with the hope that it may reduce destruction of tear ducts in Sjogren Syndrome. As with any drug, more study is needed to determine the long-term safety and effectiveness of these experimental treatments. This disease entry is based upon medical information available through August 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sjogren Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Sjogren Syndrome Foundation 382 Main St. Port Washington, NY 11050 (516) 767-2866 National Sjogren Syndrome Association 3201 W. Evans Dr. Phoenix, AZ 85023 (602) 993-7227 (800) 395-6772 The Arthritis Foundation 1314 Spring Street NW Atlanta, GA 30309 (404) 872-7100 NIH/National Institute of Dental Research (NIDR) 9000 Rockville Pike Bethesda, MD 20392 (301) 496-4261 NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1477-1478. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1535-1537. PRIMARY SJOGREN'S SYNDROME IN MEN. CLINICAL SEROLOGIC, AND IMMUNOGENETIC FEATURES. R. Molina, et al.; Am J Med, (January, 1986, issue 80(1)). Pp. 23-31. TREATMENT OF PRIMARY SJOGREN'S SYNDROME WITH HYDROCHLOROQUINE. R.I. Fox, et al; Am J Med (October 14, 1988, issue 85 (4A)). Pp 62-67. MOLECULAR CHARACTERIZATION OF A MAJOR AUTO-ANTIBODY ASSOCIATED CROSS- REACTIVE IDIOTYPE IN SJOGREN'S SYNDROME. T.J. Kipps, et al.; J Immunol (June 15, 1989, issue 142 (12)). Pp. 4261-4268. Sjogren Syndrome 6pagetitle 6: Sjogren Syndrome 04225.TXT Copyright (C) 1986, 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 291: Sly Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Sly Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mucopolysaccharidosis VII MPS VII Beta-Glucuronidase Deficiency MPS Disorder General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. Sly syndrome is characterized by a deficiency in the enzyme beta-glucuronidase, which leads to an excess of dermatan sulfate in the urine. Patients with this syndrome are similar to patients with MPS I with a wide range of clinical involvement from mild to severe. Mental retardation commonly occurs with short stature, skeletal, intestinal and corneal abnormalities. Symptoms Sly Syndrome is characterized by an increased amount of dermatan sulfate and heparan sulfate in the urine. Patients with this syndrome are often mentally retarded. Other symptoms may include a short stature, and skeletal abnormalities, such as joint contractures, dislocated hips, and spinal malformations. An enlarged liver and spleen (hepatosplenomegaly), and clouding of the eye's cornea may be seen in this syndrome. Hernias in the groin and navel (umbilical) areas may also occur. Blood from the aorta may flow back into the left ventricle of the heart (aortic regurgitation). Causes Sly Syndrome is an autosomal recessively inherited disorder, in which the enzyme beta-glucuronidase is deficient, which causes the symptoms of this disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Sly Syndrome affects males and females equally. It is an extremely rare disorder with less than 20 patients reported throughout the world. Related Disorders DiFerrante syndrome (Mucopolysaccharidosis VIII) is a disorder described in a single patient with clinical and biochemical features of Morquio and Sanfilippo syndromes. The disorder had been reported to be due to a deficiency of glucosamine-6-sulfate sulfatase. Subsequently, this disorder was called MPS VIII (DiFerrante syndrome). Dr. DiFerrante later found that the enzyme was normal in his patient, and the disorder had been misdiagnosed. Therefore, DiFerrante syndrome is not a valid medical disorder. The Mucolipidoses (ML Disorder) are a family of similar disorders, producing symptoms very much like those of the Mucopolysaccharidoses (MPS). (For more information, choose "ML Disorder" as your search term in the Rare Disease Database.) I-cell disease, or Mucolipidosis Type II, resembles Hurler syndrome and the two disorders are very difficult to distinguish. I-cell disease has similar physical and mental deterioration as MPS I, but usually occurs earlier and is more severe. I-cell disease is characterized by diffused deficiency of lysosomal enzymes within the cell and is not associated with excretion of mucopolysaccharides in the urine. Pseudo-Hurler Dystrophy (ML III) is also transmitted by autosomal recessive inheritance, but it is characterized by a deficiency of multiple lysosomal enzymes needed to break down carbohydrates. This disorder is characterized by such symptoms as claw-like hands, somewhat coarse facial features, dwarfism, and pain in the hands. Intelligence tends to be normal in most patients, but mild mental retardation is sometimes present. Ganglioside Sialidase Deficiency (ML IV) is a disorder of unknown cause characterized by early clouding of the cornea, mild to moderate mental retardation and enlargement of liver and spleen. Therapies: Standard Treatment of Sly Syndrome is symptomatic and supportive. Surgery may be used to correct orthopedic problems, and to correct hernias, eye and cardiovascular problems. Genetic counseling may be helpful to both patient and family. Prenatal diagnosis is now possible for Sly syndrome from the fourth month of pregnancy on. Therapies: Investigational Since prenatal diagnosis is now possible through amniocentesis and sampling of a tissue layer in the embryo (chorionic villus sampling), new treatments aimed at checking early development of Sly Syndrome are now under study. One method involves replacing defective enzymes via enzyme replacement therapy and/or bone marrow transplants. Scientific study of gene replacement in animal models raises hope that gene replacement may someday be made available to people with genetic disorders such as Sly Syndrome. The Mayo Clinic is investigating the use of Alpha Interferon as a treatment for Sly Syndrome. For more information, physicians can contact: Morie A. Gertz, M.D. Dept. of Hematology & Internal Medicine Mayo Clinic Rochester, MN 55905 (507) 284-2511 This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sly Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 MPS (Mucopolysaccharidoses) Research Funding Center, Inc. 1215 Maxfield Road Hartland, MI 48029 (313) 363-4412 National MPS Society 17 Kramer Street Hicksville, NY 11801 (516) 931-6338 Society of Mucopolysaccharide Diseases, Inc. 382 Parkway Blvd. Flin Flon, Manitoba, Canada R8A OK4 Society of MPS Diseases 30 Westwood Drive Little Chalfont, Bucks, England National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MPS Society Brochure. BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes, 1979. Pp. 734-735. MENDELIAN INHERITANCE IN MAN, 6th ed: Victor A. McKusick; Johns Hopkins University Press, 1983. Pp. 842-843. Sly Syndrome pagetitle 291: Sly Syndrome 04226.TXT Copyright (C) 1986, 1988, 1990 National Organization for Rare Disorders, Inc. 292: Smith-Lemli-Opitz Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Smith-Lemli-Opitz Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms RSH Syndrome Smith-Opitz-Inborn syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that are turned forward, drooping eyelids, webbing between the second and third toes, and male genital abnormalities in mentally retarded persons of small stature. Symptoms Onset of Smith-Lemli-Opitz syndrome occurs before birth. Symptoms of the disorder include: 1. Low birth weight and subsequent growth deficiency. 2. Moderate to severe mental retardation with variable alteration of muscle tone. 3. Vomiting in early infancy and tendency toward a shrill cry. 4. A small head that is abnormally long and narrow. 5. Drooping eyelids, folds in the inner corners of the eyelids, and crossing of the eyes. 6. A broad nasal tip and nostrils that are turned forward. 7. Broad lateral ridges in the palate and a moderately small jaw. 8. The palms and soles frequently show a single transverse crease. Often, webbing appears between the second and third toes. Fingertips often show whorl dermatoglyphic patterns. 9. Genitals in males reveal failure of the testes to descend into the scrotum (cryptorchidism), opening of the urethra on the underside of the penis (hypospadias) and a small penis. 10. An abnormal electro-encephalogram (EEG) is frequently reported. Occasional features of Smith-Lemli-Opitz syndrome may include a broad nasal bridge, cleft palate, a clenched hand with the index finger overlying the third finger, an asymmetric short thumb, and abnormal ridges in the palm (distal palmar axial triradius). The fore part of the foot may deviate toward the midline (metatarsus adductus), and a hip may be dislocated. The child may also have a deep sacral dimple, a pit anterior to the anus, wide-spread nipples, heart defect, hernia in the groin, a narrowing in the distal opening of the stomach (pyloric stenosis), and dilated kidney cavities (calices). Rarely, dysplasia epiphysialis punctata occurs, which consists of multiple punctate stippling of the ends of the long bones appearing in x-rays, dwarfism, flexion contraction, cataracts, a dulled intellect, short blunt fingers and general weakness. An underdeveloped thymus gland occurs rarely. Causes Smith-Lemli-Opitz syndrome is an autosomal recessive inherited disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Smith-Lemli-Opitz may be more easily diagnosed in males because of the noticeable genital abnormalities. However, the disorder occurs equally in males and females. Therapies: Standard Medical treatment of Smith-Lemli-Opitz syndrome is symptomatic and supportive. A common complication of the syndrome is pneumonia, which should be treated with antibiotics according to the causative agent. Special education services and physical therapy may also be recommended. Genetic counseling with the parents of patients with this syndrome is recommended for further family planning. Prenatal diagnosis (e.g. by amniocentesis) is not yet available for this disorder. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Smith-Lemli-Opitz Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dr. Opitz Shodar Children's Hospital P.O. Box 5539 Helena, MT 59604 NIH/National Institute of Child Health and Human Development (NCHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes, 1979. Pp. 963. Smith-Lemli-Opitz SyndromeI pagetitle 292: Smith-Lemli-Opitz Syndrome 04227.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 271: Sotos Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Sotos syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cerebral Gigantism General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sotos Syndrome is a rare, hereditary disorder characterized by excessive growth over the 90th percentile during the first 4 to 5 years of life, combined with mild mental retardation. Symptoms The primary symptom of Sotos Syndrome is excessive growth during the first 4 to 5 years of life. Symptoms may also include an unusual aggressiveness or irritability, clumsiness and an awkward gait. People with this disorder have abnormal dermatoglyphics, or patterns of the ridges on the skin of the fingers, palms, toes and soles. Bone age tends to be 2 to 4 years advanced, and patients have a disproportionately large and long head, with a slightly protrusive forehead, large hands and feet. The age of the teeth appears 1 to 2 years advanced. Physical characteristics also include eyes which appear to be abnormally far apart (hypertelorism) and slanted. Not all of these features, however, are present in every case. Mild mental retardation also occurs. Differential diagnosis of Sotos syndrome should include tests for XYY Syndrome. Endocrine evaluation of growth hormone, urinary steroid excretion, adrenopituitary interrelationships, glucose and fatty acid metabolism usually show no abnormalities. However, patients with Sotos Syndrome do sometimes have high levels of the amino acids valine, isoleucine and leucine in the blood. Children with Sotos syndrome should be tested for primary hypothyroidism and for elevated growth hormone levels. Causes Most cases of Sotos syndrome are sporadic. Though the exact mode of transmission of this disorder is not known, it has been postulated that it may be an autosomal recessive trait in some cases. In a number of instances, a dominant hereditary pattern has been well documented. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Another theory ascribes the disorder to impaired function of the hypothalamic-pituitary axis. Affected Population Sotos Syndrome affects males and females equally. Related Disorders There are a number of disorders associated with tall stature or mental retardation (pituitary giantism, Marfan's syndrome, homocystinuria, acromegaly) and these conditions should be distinguished from Sotos syndrome. Acromegaly is a chronic metabolic disease in which an excess of growth hormone causes enlargement of various tissues of the body. The jaw, hands, feet and face all appear disproportionately large as a result of the excess of growth hormone, but it is the enlargement of the soft tissues of the heart which poses the most serious health problem. Untreated, acromegaly can be life threatening. The most serious complications are cerebrovascular disease, heart failure and, less often, lung disease. Psychological malaise may result from the sometimes extensive cosmetic changes caused by both acromegaly and Sotos syndrome. (For more information, choose "acromegaly" as your search term in the Rare Disease Database.) Therapies: Standard Prognosis of Sotos Syndrome is good, with the initial abnormalities resolving as the growth rate becomes normal after the first 4 to 5 years of life. Medical treatment is symptomatic and supportive. Special education services may be required during school years for the patients affected with mental retardation. When mental retardation occurs, it is not progressive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sotos Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Sotos Syndrome Support Association 737 Shandra St. Ballwin, MO 63021 (314) 966-4194 Dr. Juan Sotos C-404 Children's Hospital 700 Children's Drive Columbus, OH 43205 Sotos Syndrome Support Group of Great Britain Mrs. Bridget Veitch Kilndown House Kilndown Cranbrook Kent, England TN17 2SG 0892-890-397 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References Current Medical Information & Terminology: Finkel et al., eds.: American Medical Association (1981). The Merck Manual of Diagnosis and Therapy: Berkow et al, eds.: Merck Sharp & Dohme (1982). Sotos Syndrome pagetitle 271: Sotos Syndrome 04228.TXT Copyright (C) 1986, 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 213: Spasmodic Torticollis _________________________ ** IMPORTANT ** It is possible the main title of the article (Spasmodic Torticollis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Spasmodic Wryneck Torticollis DISORDER SUBDIVISIONS Tonic Spasmodic Torticollis Clonic Spasmodic Torticollis Mixed Tonic and Clonic Torticollis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Spasmodic Torticollis is a tonic or intermittent spasm of the neck muscles resulting in rotation and tilting of the head which is often painful. There are three different varieties of the disorder: Tonic, causing sustained turning of the head to one side, due to increased asymmetric muscle tone in one or more neck muscles, Clonic, causing shaking movements of the head, and Mixed Tonic and Clonic, involving both kinds of movement. The cause of this disorder which affects both males and females is usually unknown. Symptoms Onset of Spasmodic Torticollis usually occurs in the 4th or 5th decades of a person's life. The first symptoms may appear gradually with the head tending to rotate to one side when a person tries to keep it straight or during a stressful situation. The symptoms may slowly progress, but they often reach a plateau after 2 to 5 years. Five to 10% of patients with Torticollis experience a spontaneous recovery, usually within 5 years after onset. This recovery seems to be more common in those patients whose condition began before 40 years of age and in those with a milder form. The disorder can recur after apparent remission. In some cases, the patient experiences pain which is generally focused on one side and in one place. This varies from person to person, however. Pain may occur on the side of the neck, in the back, or in the shoulder. One shoulder may be higher than the other, and the arm or hand of the affected side may occasionally have tremors or cramping. Spasmodic Torticollis is often diminished or absent in the morning for a short time (10 minutes to 4 hours) upon awakening. Lying on their back provides relief for many patients. Causes In most cases, the cause of Spasmodic Torticollis is unknown. However, underlying psychological disturbances, basal ganglia (specific interconnected gray masses deep in the cerebral hemispheres and in the upper brainstem) disease, central nervous system infections, or tumors in the bones or soft tissues of the neck may occasionally be implicated. Some people with neuropsychiatric disorders may also have Spasmodic Torticollis, although they are a small minority. Affected Population Onset of Spasmodic Torticollis is generally in the 4th or 5th decades of life. It affects people of both sexes and all nationalities equally. Related Disorders Torsion Dystonia is an hereditary disorder which causes patients to develop repetitive twisting and writhing involuntary movements including the muscles in the neck. (For more information on this disorder, choose Torsion Dystonia as your search term in the Rare Disease Database.) Therapies: Standard No treatment for Spasmodic Torticollis works for every patient. Medications which are sometimes effective include: Clonopin (clonazepam) and Valium (diazepam), anticonvulsants and muscle relaxants Artane (trihexyphenidyl) and Kemadrin (procyclidine hydrochloride), anticholinergics Lioresal (baclofen), a muscle relaxant Tegretol (carbamazepine), an anticonvulsant and analgesic Elavil (amitriptyline hydrochloride), an antidepressant Symmetrel (amantadine hydrochloride), an antiviral compound Miscellaneous: other drugs such as Reserpine, Parlodel, Sinemet, Triavil and Lithium. Physical therapy may be helpful in relieving spasm pain. Wearing a cervical collar or orthopedic device to straighten the neck or reduce the spasms is usually not effective. Surgery is not usually beneficial, but it may sometimes be beneficial in severe cases. Electrical nerve stimulation through the skin by TENS (transcutaneous electrical nerve stimulation) may relieve pain. Pain control may also sometimes be achieved by means of biofeedback, nerve blocks or relaxation techniques. Supportive counseling often helps the patient to understand and cope with the disorder. An occupational therapist may be able to aid patients in improving mobility and comfort. The orphan drug botulinum A toxin was approved by the FDA for treatment of patients with certain forms of dystonia, including Spasmodic Torticollis and Torsion Dystonia. This drug is manufactured by Allergran Pharmaceuticals, 2525 Dupont Dr., Irvine, CA, 92713. Therapies: Investigational The use of electronic spinal implants on people with Spasmodic Torticollis is being studied with the hope of improving motor function in some individuals. A double blind controlled study on 300 patients using an electronic orphan device is being conducted by Neuromed, Inc., of Fort Lauderdale, Florida. Patients wishing to participate in the FDA approved clinical trials should contact: Mr. William F. Jackson Clinical Affairs Manager Neuromed, Inc. 5000 Oakes Road Ft. Lauderdale, FL 33314 800-327-9910 The NIH is giving botulinum injections to persons who qualify for the program. To see if you qualify for this study, contact Suzanne at Dr. Mark Hallet's office, National Institutes of Health, Bldg. 10, Rm. 5N22, 9000 Rockville Pike, Bethesda, MD, 20892, (301) 496-1561. Porton Products Limited, 816 Connecticut Ave., NW, Washington, DC, 20006, has received orphan product designation from the FDA for Clostridium Botulinum Type F Neurotoxin, a treatment of Spasmodic Torticollis. This disease entry is based upon medical information available through December 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Spasmodic Torticollis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Spasmodic Torticollis Association, Inc. 13545 Water Town Plank Rd. P.O. Box 476 Elm Grove, WI 53122-0476 (800-HURTFUL) (487-8385) Dystonia Medical Research Foundation 8383 Wilshire Blvd. Beverly Hills, CA 90211 (213) 852-1630 Dystonia Medical Research 1 E. Wacker Dr., Suite 2900 Chicago, IL 60601-2098 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1290. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. P. 2150. Spasmodic Torticollis sed i pagetitle 213: Spasmodic Torticollis 04229.TXT `3@3Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 28: Spina Bifida _________________________ ** IMPORTANT ** It is possible that the main title of the article (Spina Bifida) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Rachischisis Posterior Neural Tube Defect SB DISORDER SUBDIVISIONS: Spina Bifida Anterior Spina Bifida Cystica Spina Bifida Occulta Spina Bifida Posterior Information on the following diseases can be found in the Related Disorders section of this report: Caudal Regression Syndrome Clubfoot Hydrocephalus General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Spina Bifida is characterized by the lack of closure of the neural tube. Part of the contents of the spinal canal may protrude through this opening. In the most severe form, rachischisis, the opening is extensive. Spina Bifida may cause problems with bladder control, walking and a variety of other problems, depending on the severity of the symptoms. Symptoms Patients with Spina Bifida can have a wide variety of symptoms and physical findings based on the severity of the defect in the spine. The mildest form of the condition, Spina Bifida Occulta, causes few if any symptoms, and may go undetected. In this mild form, the lack of closure of the neural tube affects only a small area of the spine and is found on x-rays. The disorder may be suspected because of a dimple or tuft of hair on the back overlying the affected area. Impaired bladder control is a common finding, even with relatively mild forms of the condition. In more severe forms of Spina Bifida a sac (meningocele or miningomyelocele) may protrude from the lower back. This sac may be small or it may be as large as a grapefruit. The meningocele may be covered with skin, or the nerve tissue may be exposed. Generally the sac contains cerebrospinal fluid (CSF). The malformation of the lower spinal cord causes abnormalities of the lower trunk and extremities of varying severity. If the condition is mild, the person may only experience some muscle weakness and impaired skin sensations. In patients with meningocele, accumulation of cerebrospinal fluid in the brain results in enlargement of the head (hydrocephalus) and possible brain damage. Although Spina Bifida is usually present at birth, it occasionally is first seen during adolescence. The rapid growth during this time stretches the shortened nerves and may cause progressive weakness. Causes The exact cause of Spina Bifida is not known. Hereditary and other prenatal factors may contribute. The role of vitamins and folic acid during pregnancy is being investigated. Prenatal medical care is important for the development of a fetus. Affected Population Spina Bifida occurs in approximately 1 in 2,000 live births in the United States. The disorder is more frequent in Ireland and Wales and less common in Israel and among the Jewish population in general. Spina Bifida is also 3 to 4 times more common among lower socioeconomic groups of all cultures. Related Disorders Symptoms of the following disorder can be similar to those of Spina Bifida. Comparison may be useful for a differential diagnosis: Caudal Regression Syndrome is a rare disorder characterized by the abnormal development of the lower (tail) end of the developing fetus. A wide range of abnormalities may occur. There may be a partial absence of the tail-bone at the lower end of the spine or there may be extensive abnormalities of the lower vertebrae, pelvis and spine. Symptoms may include paralysis or numbness of the legs, underdeveloped muscles, clubfoot, kidney abnormalities and pelvic swelling. A less common abnormality associated with Caudal Regression Syndrome is hydrocephalus. (For more information on this disorder, choose "Caudal Regression Syndrome" as your search term in the Rare Disease Database). The following disorders may be associated with Spina Bifida as secondary characteristics. They are not necessary for a differential diagnosis: Hydrocephalus is a condition in which the dilated cerebral ventricles (spaces in the brain) inhibit the normal flow of cerebrospinal fluid (CSF). The fluid accumulates in the head and puts pressure on the brain. The result is an enlarged head. Symptoms may include a thin, transparent scalp, a bulging forehead and a downward gaze. There may be convulsions, headache, irritability, general weakness and problems with vision. This disorder may occur along with Spina Bifida. (For more information on this disorder, choose "Hydrocephalus" as your search term in the Rare Disease Database). Clubfoot is a term used to describe several kinds of congenital ankle and foot deformities. Generally the heel turns outward from the midline and the front part of the foot is elevated. Clubfoot is not painful and generally causes no problems until the infant begins to walk or stand. At that point, the defect causes the child to walk as if on a peg leg. If both feet are affected, the child usually walks on the balls of the feet. This disorder may occur along with Spina Bifida. Muscle imbalance or spasticity may cause a twisting of a normal foot in children with Spina Bifida. (For more information on this disorder, choose "Clubfoot" as your search term in the Rare Disease Database). Therapies: Standard The U.S. Public Health Service (PHS) advises women of childbearing age to take 0.4 mg of Folic Acid daily, either through diet or low dose supplements. Women are urged not to take more than 1.0 mg of folic acid daily unless advised by a physician because high doses of folic acid can mask other vitamin deficiencies. The mildest cases of Spina Bifida may not require treatment. The moderate cases require a decision as to whether or not surgery is advisable. Surgery may prevent the worsening of the condition in some instances, but cannot restore the lost function. In those extreme cases where the sac (meningocele) breaks or appears about to break, immediate surgery becomes essential. Surgeons have operated on Spina Bifida patients of all ages beginning from a few hours after birth. When hydrocephalus is a complication, surgery to shunt (drain) the excess cerebrospinal fluid (CSF) away from the brain is extremely beneficial. Some surgeons are now using a coiled catheter when the shunt operation is performed on children to allow for catheter expansion as the child grows. It is quite common for patients with Spina Bifida to develop contractures (shortening of the muscles) and abnormalities of posture. This is due to the paralysis of muscles in the legs. A child with Spina Bifida should have the necessary therapy (orthopedic and physical) beginning at an early age to prevent such contractures. The family doctor or the orthopedist may prescribe corrective shoes, braces, crutches, or other devices. These help the patient to make the most effective use of their weakened muscles, and to prevent the arms and legs from being maintained in an improper or awkward position. Deformities from "frozen" ankles, knees, or hips often can be prevented by range of motion exercises. These exercises may be started when the infant is only a few days old, and are generally done 3 to 4 times a day initially under a doctor's supervision. The goal of this routine is to keep the joints movable and to keep the leg muscles from shortening and causing contractures. Parents and care givers may learn these simple movements but always with their doctor's advice. In some cases of Spina Bifida, surgery involving the transfer of tendons to restore proper muscle balance may be helpful. Therapies: Investigational Spina Bifida, hydrocephalus, and related birth defects are constantly under investigation. Scientists are seeking answers to the cause, prevention, and treatment of these disorders. Researchers have been studying the effects of drugs and chemicals on central nervous system development. They are studying how viruses, drugs, vitamins and other agents may influence the way the nervous system develops and grows during the earliest stages of a fetal development. In July 1991, the Centers for Disease Control (CDC) in Atlanta, GA reported cases of extreme life-threatening allergic reactions (anaphylactic shock) to latex occuring in children who have undergone surgery for Spina Bifida. Children with Spina Bifida seem to have an extreme hypersensitivity to latex. Latex is commonly used in many medical products such as gloves, endotracheal tubes, and urinary catheters. It has been suggested that any elective surgeries be postponed until the reason for the increased risk of anaphalaxis in children with Spina Bifida can be determined. If a surgical procedure cannot be postponed, then caution should be taken to avoid or minimize any contact with latex. Other investigators are studying alternate methods of draining fluid from the brain without surgery. They also are studying biochemical changes in parts of the brain affected by hydrocephalus, with the hope of preventing possible brain damage. A large project at the National Institute of Neurological Disorders and Stroke (NINDS) is studying 55,000 mothers and their offspring. The conditions leading to Spina Bifida and other abnormalities of the newborn are expected to be understood more clearly when the data are analyzed from this large study. The Institute is cooperating with 12 medical centers throughout the Nation in collecting and analyzing detailed information. Researchers in the United States, England and Hungary are investigating the effects of folic acid and/or the use of multivitamins with folic acid as a way of preventing the development of Neural Tube Defects in mothers who had previous pregnancies with this defect. The study suggests that folic acid may play a role in preventing some Neural Tube Defects. This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Spina Bifida, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Spina Bifida Association of America 4590 Macarthur Blvd., NW, #250 Washington, DC 20007-4226 (202) 944-3285 (800) 621-3141 The National Easter Seal Society for Crippled Children and Adults 70 E. Lake St. Chicago, Illinois 60601 (312) 726-6200 (voice) (312) 726-4258 (TDD) NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Spina Bifida Association of Canada 633 Wellington Crescent Winnepeg, Manitoba R3M 0A8 Canada International Federation for Hydrocephalus and Spina Bifida c/o RBU Gata 3 11138 Stockholm Sweden Contact: David Bagares For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1951. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1028-1029. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2239-2240. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1120-1121. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 976-977. SPINA BIFIDA TODAY, D.G. McLone; Semin Neurol (Sept 1989; 9(3)): Pp. 169-175. THE MANAGEMENT OF CHILDREN WITH SPINAL DYSRAPHISM, G.S. Liptak et al.; J Child Neuro (Jan 1988; 3(1)): Pp. 3-20. Mortality Morbidity Weekly: September 11, 1992; 41:Suppl RR 14:1-7.:Suppl RR 14:1-7. Spina BifidaM4 P4pagetitle 28: Spina Bifida 04230.TXT pagetitle 693: Split-Hand Deformity Copyright (C) 1990 National Organization for Rare Disorders, Inc. 693: Split-Hand Deformity _________________________ ** IMPORTANT ** It is possible that the main title of the article (Split-Hand Deformity) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Karsch-Neugebauer Syndrome Ectrodactyly Lobster Claw Deformity Ectrodactilia Ektrodactylie Information on the following diseases can be found in the Related Disorders section of this report: Electrodactyly-Ectodermal Dysplasia Clefting Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Split-hand deformity is a genetic disorder characterized by the absence of fingers or parts of fingers, commonly occurring with a cleft of the hand. This combination often gives the hand a clawlike appearance. When a cleft does occur, it usually affects both hands and both feet. There are many types and combinations of deformities that appear in Split-hand deformity. It is believed that they are all the result of a common genetic defect that ranges widely in severity. Symptoms Typical cases of split-hand deformity usually appear in two forms. In the lobster claw variety there is usually an absence of the third digit. Located in the position of the third digit is a cone-shaped cleft that tapers in toward the wrist and divides the hand into two parts. The resulting deformed hand resembles a lobster claw. The remaining fingers or parts of fingers on each side of the cleft are often joined or webbed together. When a cleft occurs, it is usually present in both hands. A similar deformity commonly occurs in the feet. In the second variety of split-hand deformity, there is the presence of only the fifth digit (monodactyly) and no cleft. There are varying levels of severity between these types, and cases of each type occasionally are found in the same family. Individuals with split-hand deformity usually have normal life spans and intelligence. Difficulties in physical functioning are related to the severity of the deformity. Causes Split-hand deformity is an autosomal dominant inherited trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Occasionally split-hand deformity will skip a generation, and affected offspring will be born to unaffected parents. Affected Population Split-hand deformity affects males and females equally. Frequency is estimated at one out of 90,000 births. Related Disorders Symptoms of the following disorders can be similar to those of Split-Hand Deformity. Comparisons may be useful for a differential diagnosis: Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome is a genetic disorder which may be characterized by an absence of fingers and/or toes (ectrodactyly); an absence of tear ducts; cleft lip and/or palate; and sparse scalp hair, lashes and eyebrows. For more information on this disorder, choose "Ectodermal dysplasia" as your search term in the Rare Disease Database. Therapies: Standard Reconstructive surgery can be performed on people with split-hand deformity when applicable, and prosthetics are available to help achieve normal functioning. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Split-Hand Deformity, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Association of Children's Prosthetic and Orthotic Clinics 317 E. 34th Street New York, NY 10016 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 685-686, 1380. MONODACTYLOUS SPLITHAND-SPLITFOOT. A MALFORMATION OCCURRING IN THREE DISTINCT GENETIC TYPES. G. Bujdoso et al.; EUR J PEDIATR (May 1980; 133(3):207-15. Split-Hand Deformity 04231.TXT Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 294: Spondyloepiphyseal Dysplasia Tarda _________________________ ** IMPORTANT ** It is possible the main title of this article (Spondyloepiphyseal Dysplasia Tarda) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms X-linked Spondyloepiphyseal Dysplasia SED Tarda General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Spondyloepiphyseal Dysplasia Tarda is a hereditary disorder which most often affects males. It is characterized by dwarfism and skeletal abnormalities. Symptoms Symptoms of SED Tarda are usually not apparent until 5 to 10 years of age, at which point spinal growth appears to stop. The shoulders assume a hunched appearance, the neck appears to become shorter and the chest broadens. During adolescence, the skeletal abnormalities may cause pain in the back, hips, shoulders, knees and ankles. As adults, patients with the disorder have a mild case of dwarfism, with a short trunk, large chest cage and relatively normal limb length. Hands, head and feet appear to be normal size, but height usually ranges from 4'4" to 5'2". Causes SED Tarda is believed to be caused by an X-linked recessive inheritance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Related Disorders Morquio Disease, or Mucopolysaccharidosis IV is an autosomal recessive inherited disorder detectable usually at 18 months of age. Its features include retarded growth, clouding of the cornea, hearing loss, and flow of blood back from the aorta into the left ventricle of the heart (aortic regurgitation). This disorder affects males and females equally. (For more information, choose "Morquio" as your search term in the Rare Disease Database.) Spondyloepiphyseal Dysplasia Congenita is a disorder with autosomal dominant inheritance which can have considerable variability in the severity of symptoms. It is characterized by flat facial features, myopia, retinal detachment, cleft palate, clubfoot, short-trunk dwarfism, a waddling gait and normally sized hands and feet. This disorder, which is often detectable at birth, affects males and females equally. (For more information, choose "SED" as your search term in the Rare Disease Database.) Multiple Epiphyseal Dysplasia, like SED Congenita, is caused by an autosomal dominant gene affecting males and females equally. The disorder is detectable between two and five years of age with the appearance of a waddling gait. Patients may experience pain as a result of osteoarthritic changes in the joints. Body size tends to be almost normal, with the exception of the hands and feet which are disproportionately small. Therapies: Standard Prevention of SED Tarda can be achieved through genetic counseling. Treatment of the disorder is supportive and symptomatic. Physical therapy is used to relieve joint stiffness and pain. Total hip replacement may eventually be the treatment of choice for severely debilitating osteoarthritis of the hips. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Spondyloepiphyseal Dysplasia Tarda, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF National Cleft Palate Association 1218 Grandview Ave. Pittsburgh, PA 15211 1-800-24CLEFT 1-800-23CLEFT For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes, 1979. Pp. 970-1. Spondyloepiphyseal Dysplasia Tarda1 pagetitle 294: Spondyloepiphyseal Dysplasia Tarda 04232.TXT Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders, Inc. 293: Spondyloepiphyseal Dysplasia, Congenital _________________________ ** IMPORTANT ** It is possible the main title of the article (Congenital Spondyloepiphyseal Dysplasia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions. Synonyms SED Congenital Pseudoachondroplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Spondyloepiphyseal Dysplasia, also known as SED Congenita, is a rare hereditary disorder characterized by dwarfism and abnormal bone development. Symptoms SED Congenital is usually detectable at birth. Symptoms include flat facial features, myopia (near-sightedness) or retinal detachment, short-trunk dwarfism and barrel-chestedness. Also, the knees often tend to be misaligned, pointing either outward or inward, so patients often have a waddling gait. Hands and feet appear normal, and patients with SED Congenital usually have normal intelligence; in general, patients may reach an adult height of 84 to 128 cm. In some cases, the characteristic symptoms of the disorder may lead to further complications. For instance, retinal detachment may result in severe vision impairment, possibly blindness. Compression of the spinal cord may result from stress placed on the lax ligaments which are a symptom of SED Congenital, possibly leading to muscle weakness. Finally, backward and lateral extension of the spinal column (kyphoscoliosis), hyperextensible finger joints and joint dislocation can all further complicate the effects of the disorder. Causes SED Congenital has an autosomal dominant inheritance, with great variability in the actual manifestation of symptoms. That is, in order for a child to inherit the disorder, one or both parents must also have it, though there may be a difference in the degree to which parent and child display the symptoms of SED Congenita. (In autosomal dominant disorders, a single abnormal gene, contributed by either parent, "overrides" the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a 50% chance of inheriting the disorder.) Affected Population SED Congenital affects males and females in equal numbers; roughly 1 in 100,000 live births will manifest this disorder. Related Disorders Spondyloepiphyseal Dysplasia Tarda is a hereditary disorder that primarily affects males, and is characterized by dwarfism and hunched-up appearance of the spine. Evidence of abnormal growth in this X-linked recessive inherited disorder only becomes evident at 5 to 10 years of age. (For more information, choose "SED Tarda" as your search term in the Rare Disease Database.) Morquio Syndrome or Mucopolysaccharidosis IV (MPS Type IV) is a hereditary disorder characterized by retarded growth, backward and lateral extension of the spinal column (kyphoscoliosis), outwardly directed knees, corneal clouding, deafness, and a heart disorder in which blood flows backward from the aorta back into the left ventricle of the heart (aortic regurgitation). Weakness in the legs may often result from the skeletal abnormalities symptomatic of the disorder, and paraplegia may result. Like SED Congenital, Morquio Syndrome affects males and females equally. (For more information, choose "Morquio" as your search term in the Rare Disease Database.) Therapies: Standard Primary prevention of SED Congenital is achieved through genetic counseling. Treatment includes early symptomatic correction of the clubfoot deformity, closure of the cleft palate, prevention of retinal detachment by regular ophthalmologic examinations and coagulation of early retinal tears. Ongoing orthopedic care is often necessary throughout life. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Spoondyloepiphyseal Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF Parents of Dwarfed Children 11524 Colt Terr. Silver Spring, MD 20902 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References BIRTH DEFECTS COMPENDIUM, 2nd ed: Daniel Bergsma, ed; March of Dimes, 1979. P. 969. Spondyloepiphyseal Dysplasia, Congenitalw pagetitle 293: Spondyloepiphyseal Dysplasia, Congenital 04233.TXT Copyright (C) 1993 National Organization for Rare Disorders, Inc. 942: Sprengel Deformity _________________________ ** IMPORTANT ** It is possible that the main title of the article (Sprengel Deformity) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms High Scapula Scapula Elevata Information on the following diseases can be found in the Related Disorders section of this report: Klippel-Feil Anomaly General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sprengel Deformity is a rare congenital disorder in which the shoulder blade has an upward displacement. The elevated shoulder blade causes a lump in the back of the base of the neck and may limit movement of the arm on the affected side. This disorder typically appears at birth for no apparent reason although there have been cases in which the disorder was inherited as an autosomal dominant trait. Other skeletal and muscular abnormalities have been found in association with Sprengel Deformity. Symptoms Patients with Sprengel Deformity are born with an elevated shoulder blade that may be underdeveloped. This upward displacement of the shoulder blade causes a lump in the back at the base of the neck and may limit movement of the arm. Some patients with Sprengel Deformity may have bone, cartilage or fiber-like tissue between the shoulder blade and vertebrae next to it. Abnormalities of the skeleton and underdeveloped muscles may also be found in over half of the patients. The following symptoms have been found in association with Sprengel Deformity in some patients: sideways curvature of the spine (scoliosis); an underdeveloped backbone (hemivertebrae); missing or fused ribs; ribs in the neck; abnormalities of the collarbone; underdeveloped or incomplete muscles of the shoulder girdle; abnormalities of the chest; organs of the body displaced on the opposite side (ex: liver on the left and heart on the right; a gap in the vertebrae column of the lower back (spina bifida occulta); and/or a condition in which there is a hole in the middle of the roof of the mouth (cleft palate). Causes The majority of cases of Sprengel Deformity occur for no apparent reason (sporadically). Autosomal dominant inheritance has been reported in some families. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Sprengel Deformity is a very rare disorder that affects males and females equally in autosomal dominant cases, and females twice as often as males in sporadic cases. Approximately twenty families have been reported in the medical literature with the inherited form of Sprengel Deformity. Related Disorders Symptoms of the following disorders can be similar to those of Sprengel Deformity. Comparisons may be useful for a differential diagnosis: Klippel-Feil Syndrome is a rare congenital disorder of the spine. Three types of Klippel-Feil Syndrome have been identified. Symptoms common to all three types include fusion of neck vertebrae, curvature of the spine, and a low hairline. (For more information on this disorder, choose "Klippel-Feil Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Surgery may be performed in severe cases of Sprengel Deformity to improve mobility and cosmetic appearance. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sprengel Deformity, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 878. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1593-94. SPRENGEL DEFORMITY: S.J. Leibovic, et al.; J Bone Joint Surg (February, 1990, issue 72(2)). Pp. 192-7. Sprengel Deformity pagetitle 942: Sprengel Deformity 04234.TXT pagetitle 111: Stein-Leventhal Syndrome Copyright (C) 1986, 1989, 1991 National Organization for Rare Disorders, 111: Stein-Leventhal Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Stein-Leventhal Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Polycystic Bilateral Ovarian Syndrome Bilateral Polycystic Ovarian Syndrome Ovarian Hyperthecosis Sclerocystic Ovarian Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Stein-Leventhal Syndrome is a reproductive disorder affecting young women. It is characterized by absent or abnormal menstruation, sterility, mild signs of virilization, and sometimes obesity. The causes of the syndrome are not understood, but may involve faulty production of reproductive hormones. Therapy is often effective, but recurrences are common. Symptoms The first symptoms of Stein-Leventhal syndrome usually appear shortly after puberty and before age twenty, after menstruation has been normal or irregular for some time. Menstrual flow becomes irregular and gradually decreases over several months, until menstruation ceases. Sometimes, profuse menstrual flow interrupts longer intervals of amenorrhea. Menstrual pain occurs in about 20% of the patients. Many patients consult a physician because of infertility or the appearance of increased facial hair. Other signs of virilization include voice changes and increased body hair with a "male" distribution, such as on the chest. Obesity is a frequently associated problem. Cysts are found directly under the surface of the ovaries. Other pathological changes also occur. The uterus is often small and underdeveloped. Stein-Leventhal syndrome should be treated even when pregnancy is not desired because erratic, or breakthrough bleeding can be a problem, and because changes in the endometrium, the tissue lining the uterus that changes regularly in the normal menstrual cycle, can lead to precancerous or cancerous conditions. Causes The causes of Stein-Leventhal syndrome may vary from case to case, and are usually poorly understood. Generally, the abnormalities are thought to occur in hypothalamic, pituitary, or ovarian hormone production. Occasionally, a tumor of the adrenal gland produces excessive amounts of androgenic hormones. In all cases, the ovary fails to ovulate, and through a feed back mechanism, becomes enlarged and full of cysts. Affected Population Young women are affected by Stein-Leventhal Syndrome. Therapies: Standard If a patient afflicted with Stein-Leventhal Syndrome wants to become pregnant, ovulation and normal menstruation follows administration of clomiphene in many cases; pregnancy occurs in about half of these patients. If clomiphene is ineffective, gonadotropins may be tried. Should both fail, ovarian wedge resection, or removal of the cystic portions of the ovaries, can be performed. However, symptoms often recur. If pregnancy is not desired, the ovary can be fully suppressed with low dosage birth control pills or long acting progestins such as medroxyprogesterone. The investigational drug Flutamide is being tested in Stein-Leventhal Syndrome as a treatment for the control of hair growth. For further information physicians may contact: Dr. David Ehrmann Department of Medicine University of Chicago Medical Center 5841 Maryland Ave., Box 435 (312) 702-9653 Therapies: Investigational This disease entry is based upon medical information available through November 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Stein-Leventhal Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1056, 1695. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1287. Stein-Leventhal Syndrome 04203.TXT Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 330: Saethre-Chotzen Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Saethre-Chotzen Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Acrocephalosyndactyly Type III Chotzen Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Saethre-Chotzen syndrome is a hereditary disorder involving various craniofacial and skeletal malformations with abnormalities of the skin on the toes and fingers. Short stature and, in some cases, mild to moderate mental retardation may also occur. Symptoms Saethre-Chotzen syndrome is characterized by a small head (microcephaly), skull asymmetry, mildly fused or webbed fingers and/or toes (syndactyly), and facial abnormalities. These facial abnormalities may include: 1. skull bony fusion (craniosynostosis) 2. low-set frontal hairline 3. a beaked nose without the dividing septum 4. drooping (ptosis) of the eyelids 5. improper eye movement (strabismus) 6. tear duct shrinkage (stenosis) Shortness of fingers and/or toes (brachydactyly) and abnormal skin patterns (dermatoglyphics) on the hands and feet may also be present. Facial manifestations usually improve somewhat with time. Some respiratory, heart, and/or kidney problems can also develop in people with this disorder. Causes Saethre-Chotzen Syndrome is believed to be inherited as an autosomal dominant trait, although the specific defective gene has not yet been identified. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Saethre-Chotzen syndrome is present at birth. Both sexes can be affected and the disorder is found worldwide. Related Disorders Apert Syndrome is an autosomal dominant inherited disorder characterized by fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly or oxycephaly), other skeletal and facial abnormalities, and mental retardation. This disorder varies from Saethre-Chotzen because it has a narrower range of physical manifestations. For more information on Apert Syndrome, choose "Apert" as your search term in the Rare Disease Database. Therapies: Standard Treatment for Saethre-Chotzen Syndrome is symptomatic and supportive. Patients should be monitored carefully for respiratory or heart problems, and infection should be guarded against. Family members of patients can have less encompassing milder forms of the disorder, and might benefit from a medical evaluation. Genetic counseling may be useful to families of patients. Therapies: Investigational Research into causes and treatment of many genetic/birth defects is ongoing. For more information, please contact the agencies listed in the resources section of this entry. Researchers at Johns Hopkins Hospital are trying to determine the genes responsible for craniofacial disorders. Physicians may contact Drs. Amy Feldman Lewanda or Ethylin Wang Jabs at: CMSC 10, Johns Hopkins Hospital, Baltimore, MD, 21205, (301) 955-0484. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Saethre-Chotzen syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Ave. New York, NY 10016 (212) 340-5400 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 About Face 99 Crowns Lane Toronto, Ontario M6R 3PA Canada (416) 944-3223 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 For more information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References DERMATOGLYPHICS IN SAETHRE-CHOTZEN SYNDROME: A FAMILY STUDY: L. Borbolla, et. al.; Acta Paediatr Acad Sci Hung (1983 issue 24(3)). Pp. 269-279. THE SAETHRE-CHOTZEN SYNDROME: O.A. Pantke, et. al.; Birth Defects (1975, issue 11(2)). Pp. 190-225. Saethre-Chotzen Syndromeg pagetitle 330: Saethre-Chotzen Syndrome 04204.TXT Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders, Inc. 94: Sandhoff Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Sandhoff Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Gangliosidosis GM2 Type 2 Information on the following diseases can be found in the Related Disorders section of this report: Tay-Sachs Disease Gaucher Disease Niemann-Pick Disease Fabry's Disease Leigh's Disease Batten Disease Kufs Disease Epilepsy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sandhoff Disease is a progressive, inherited, lipid storage disorder that causes the destruction of the central nervous system. A more severe form of Tay-Sachs Disease, it involves the larger organs of the body and is not restricted to any particular ethnic group. Symptoms The onset of Sandhoff Disease is usually in the third month of life. There may be progressive motor and mental deterioration with a marked startle response to sound, an increased tension in the muscles (spasticity). Other characteristics may include murmurs of the heart, myoclonic and generalized seizures, enlargement of the liver and spleen, and early blindness. The great toe extends instead of flexing (positive Babinski sign) and the outer toes spread after the side of the sole of the foot has been stroked. Causes Sandhoff Disease is an inherited, lipid storage disorder caused by a deficiency of the enzyme Hexosaninidase A and B, and an accumulation of GM2 gangliosidosis in the brain and other internal organs. It is believed to be transmitted through the autosomal recessive genes. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Sandhoff Disease is a very rare disorder affecting males and females in equal numbers. It is found in people of all ethnic backgrounds. Related Disorders Symptoms of the following disorders can be similar to those of Sandhoff Disease. Comparisons may be useful for a differential diagnosis: Tay-Sachs Disease is a genetic disorder of lipid metabolism that causes progressive destruction of the central nervous system. It is generally found among children with East European Jewish heritage and becomes clinically apparent at about 6 months of age. (For more information on this disorder, choose "Tay-Sachs" as your search term in the Rare Disease Database.) Gaucher Disease is an inherited disease of lipid metabolism caused by the failure to produce the enzyme glucocerebrosidase. It is the most common of the fourteen lipid storage disorders which includes Tay-Sachs, Fabry's Disease, Sandhoff Disease, and Niemann-Pick Disease. (For more information on this disorder, choose "Gaucher" as your search term in the Rare Disease Database). Niemann-Pick is a rare, familial disorder of lipid metabolism characterized by an accumulation of sphingomyelin and cholesterol in the reticuloendothelial cells. For more information on this disorder, choose "Niemann" as your search term in the Rare Disease Database). Fabry Disease is a very rare, familial, sex-linked disorder of lipid metabolism in which products of glycopids (fats containing carbohydrate-like glucose) accumulate in various tissues. While this hereditary disorder affects both sexes, it tends to be milder in females. (For more information on this disorder, choose "Fabry" as your search term in the Rare Disease Database). Batten's Disease is a hereditary lipid storage disorder transmitted as a recessive trait. It is characterized by rapidly progressive vision failure (optic atrophy), deterioration of intellect, seizures, loss of muscular coordination and a backward lateral curvature of the spinal column (kyphoscoliosis). Occuring mostly in white females of Northern European Scandinavian ancestry, Batten's Disease usually begins between five and seven years of age. (For more information on this disorder, choose "Batten" as your search term in the Rare Disease Database.) Kuf's Disease is characterized by neurological symptoms which may mimic mental illness, and dermatological abnormalities resembling Ichthyosis (dry and flaky skin). Symptoms of Kuf's Disease may be linked to excessive accumulation of pigments (lipofuscins) dissolved in fatty tissues that are found throughout the central nervous system. (For more information on this disorder choose, "Kuf" as your search term in the Rare Disease Database.) Epilepsy is a disorder of the central nervous system characterized by a sudden aimless and uncontrollable discharge of electrical energy in the brain. This discharge is sometimes preceded by a strange feeling (aura) and is characterized by convulsions and the loss of consciousness. Epileptic seizures occur in patients with Sandhoff Disease. (For more information on this disorder, choose "Epilepsy" as your search term in the Rare Disease Database.) Therapies: Standard Genetic counselling will be of benefit for families of people with Sandhoff's Disease. Other treatment is symptomatic and supportive. Therapies: Investigational Experimental trials of enzyme therapy in cats are being tested as a possible treatment for humans with Sandhoff's Disease. More research is needed to determine safety and effectiveness of enzyme replacement therapy in humans. This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sandhoff Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1177. THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp.957. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2075. Sandhoff Disease pagetitle 94: Sandhoff Disease 04205.TXT Copyright (C) 1988, 1987, 1989, 1990 National Organization for Rare Disorders, Inc. 290: Sanfilippo Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Sanfilippo Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mucopolysaccharidosis Type III MPS III Oligophrenic Polydystrophy Polydystrophia Oligophrenia MPS Disorder DISORDER SUBDIVISIONS Sanfilippo Type A Sanfilippo Type B General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. Sanfilippo Syndrome (MPS III), an autosomal recessive hereditary disorder, is characterized by severe mental deterioration, mild physical defects and the excretion of heparan sulfate in the urine. There are four types of Sanfilippo Syndrome; types A and B are the most common forms. Symptoms Patients with Sanfilippo Syndrome (MPS Type III) usually appear normal at birth, but mental retardation is usually evident by age 3-5 years. Mental and motor development reach a peak by 3-6 years of age after which behavioral disturbances and intellectual decline usually occur. Growth is usually minimally affected; the head may be enlarged, and abnormal hairiness (hirsutism) may occur. Mild coarsening of facial features, limitation of joint mobility and moderate enlargement of the liver and spleen (hepatosplenomegaly) also characterize this disorder. Deafness may also occur. The different forms of Sanfilippo Syndrome have identical clinical features, but can be distinguished by enzymatic assay. Sanfilippo A is characterized by a lack of heparan sulfate sulfatase; patients with Sanfilippo B lack N-acetyl-alpha-glucosaminidase. Heparan sulfate is the only mucopolysaccharide excreted in the urine. The deficient enzymes of the Sanfilippo subtypes are heparan N-sulfatase (type A), N-acethylglucosaminidase (type B), acetylcoA: gamma-glucosamine-N-acetyltransferase (type C), and N-acetyl-gamma-glucosamine-6-sulfatase (type D). Causes All types of Sanfilippo Syndrome are autosomal recessively inherited disorders. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Sanfilippo Syndrome may affect males and females equally. The disorder occurs in about 1 in 50,000 live births. Related Disorders There are many types of Mucopolysaccharidoses. (For more information, choose "MPS Disorder" as your search term in the Rare Disease Database.) Patients with MPS Type III are more similar to MPS Type II patients than those with other forms of Mucopolysaccharidoses. DiFerrante syndrome (mucopolysaccharidosis VIII) is a disorder described in a single patient with clinical and biochemical features of Morquio and Sanfilippo syndromes. The disorder had been reported to be due to a deficiency of glucosamine-6-sulfate sulfatase. Subsequently, this disorder was called MPS VIII (DiFerrante) syndrome. Dr. DiFerrante later found that the enzyme was normal in his patient, and the disorder had been misdiagnosed. Therefore, DiFerrante Syndrome is not a valid medical disorder. Therapies: Standard Treatment of Sanfilippo Syndrome is symptomatic and supportive. Genetic counseling may be helpful to the parents of patients with Sanfilippo Syndrome. Prenatal diagnosis is now possible for this disorder. Therapies: Investigational Since prenatal diagnosis is now possible through amniocentesis and sampling of a tissue layer in the embryo (chorionic villus sampling), new treatments aimed at checking early development of Sanfilippo Syndrome are now under study. One method involves replacing defective enzymes via enzyme replacement therapy and/or bone marrow transplants. Scientific study of gene replacement in animal models raises the hope that gene replacement may someday be made available to people with genetic disorders such as Sanfilippo Syndrome. The Mayo Clinic is investigating the use of Alpha Interferon as a treatment for Sanfilippo Syndrome. For more information, physicians can contact: Morie A. Gertz, M.D. Dept. of Hematology & Internal Medicine Mayo Clinic Rochester, MN 55905 (507) 284-2511 This disease entry is based upon medical information available through June 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sanfilippo Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 MPS (Mucopolysaccharidoses) Research Funding Center, Inc. 1215 Maxfield Road Hartland, MI 48029 (313) 363-4412 National MPS Society 17 Kramer Street Hicksville, NY 11801 (516) 931-6338 Society of Mucopolysaccharide Diseases, Inc. 382 Parkway Blvd. Flin Flon, Manitoba, Canada R8A OK4 Society of MPS Diseases 30 Westwood Drive Little Chalfont, Bucks, England National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MPS Society Brochure. BIRTH DEFECTS COMPENDIUM, 2nd ed.: Daniel Bergsma, ed: March of Dimes, 1979. P. 731. MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A. McKusick; Johns Hopkins University Press, 1983. P. 839. Sanfilippo Syndrome ch pG pagetitle 290: Sanfilippo Syndrome 04206.TXT $c$Copyright (C) 1986, 1992, 1993 National Organization for Rare Disorders, Inc. 215: Sarcoidosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Sarcoidosis) is not the name you expected. Please check the SYNONYMS listing on the following page to find the alternate names and disorder subdivisions covered by this article. Synonyms Besnier-Boeck Schaumann Disease Boeck Sarcoid Hutchinson-Boeck Syndrome Benign Lymphogranulamatosis Schaumann Syndrome Lupus Pernio Including Uveoparotid Fever General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sarcoidosis is a disorder which affects many body systems. It is characterized by small round lesions (tubercles) of granulation tissue. Symptoms may vary depending on the severity of the disease and how much of the body is affected. Symptoms Symptoms of Sarcoidosis depend on the site of involvement and may be absent, slight, or severe. Function may be impaired by the active granulomatous disease or by secondary fibrosis. Fever, weight loss, and arthralgias (joint pain) may be initial manifestations. Persistent fever is especially common with liver (hepatic) involvement. Peripheral lymphadenopathy (enlarged lymph glands) is common and usually asymptomatic. Both enlarged and normal-sized lymph nodes may contain the characteristic sarcoid tubercles. The lymph glands between the two lungs are often affected and may be seen during routine chest x-rays. Disease of the right lymph nodes next to the trachea is common in this disorder. Lymph gland involvement is occasionally unilateral. Diffuse lung infiltration may accompany or follow lymph gland involvement; this infiltration may have a diffuse fine ground-glass appearance on the x-ray, and may occur as reticular (resembling a net) or miliary (resembling a millet seed) lesions. They may also resemble metastatic tumors. Pulmonary involvement is usually characterized by cough and difficulty in breathing (dyspnea), but these symptoms may be minimal or even absent. Pulmonary fibrosis, cystic changes, and cor pulmonale (heart disease due to pulmonary hypertension) may occur as a result of long-standing progressive disease. Skin lesions (i.e., plaques, papules, subcutaneous nodules) frequently are present in patients with severe chronic Sarcoidosis. Granulomas of the nasal mucous membranes and the conjunctiva may occur. An acute inflammatory skin disease marked by tender red nodules (erythema nodosum) with fever and pain in the joints (arthralgias) is a frequent manifestation of Sarcoidosis. Liver (hepatic) granulomas are found in 70% of patients examined by liver biopsy, even if they are asymptomatic and have normal liver function tests. An enlarged liver (hepatomegaly) is noted in fewer than 20% of patients. Progressive and severe hepatic dysfunction with enlarged or tortuous veins (esophageal varices and portal vein hypertension) is rare. Granulomatous inflammation of the vascular middle layer of the eye occurs in 15% of cases; it is usually bilateral, and may result in severe loss of vision from secondary glaucoma if untreated. Inflammation of the tissues around the veins in the retina (retinal periphlebitis), tear gland enlargement, conjunctival infiltrations, and dry inflammation of the cornea (keratitis sicca) occasionally are present. Myocardial involvement may cause angina, congestive heart failure, or severe conduction abnormalities. Acute polyarthritis may be prominent. Central nervous system (CNS) involvement can be of almost any type, but cranial nerve palsies, especially facial paralysis, are most common. Diabetes insipidus may also occur. An excess of calcium in the blood (hypercalcemia) and an excess of calcium in the urine (hypercalciuria) may cause kidney stones or precipitated calcium phosphate in kidney tubules (nephrocalcinosis) with consequential renal failure. Prednisone therapy has reduced the frequency and adverse effects of disordered calcium metabolism in patients with Sarcoidosis. Laboratory findings include the following characteristics. A decrease in white blood cells (leukopenia) frequently is present. An abnormally high globulin content of the blood (hyperglobulinemia) is common among black people with Sarcoidosis. Elevated serum uric acid is not uncommon, but gout is rare. Serum alkaline phosphatase may be elevated as a result of liver involvement. Depression of delayed hypersensitivity is characteristic, but a negative second-strength tuberculin reaction is useful in excluding a complicating tuberculosis. Pulmonary function tests show restriction, decreased compliance (yielding to pressure or force without disruption), and impaired diffusing capacity of the lungs. Carbon dioxide retention is uncommon since ventilation rarely is obstructed except in patients with endobronchial disease or severe pulmonary fibrosis. Serial measurements of pulmonary function are a guide to treatment and to the course of the disease. Causes The cause of Sarcoidosis is not known. A single provoking agent such as a slow virus, or disordered defense reactions triggered by a variety of agents may be responsible. Genetic factors may be important. Recent studies indicate that M. tuberculosis may be involved in the development of Sarcoidosis. It is felt that the disease may be caused by a form of M. tuberculosis that has no cell wall and as a result is not susceptible to the usual TB therapy. Affected Population Sarcoidosis occurs predominantly between the ages and 20 and 40 years. It is most common among people of northern European ancestry and American Blacks. Therapies: Standard Treatment of Sarcoidosis is symptomatic and supportive. Corticosteroids often relieve symptoms, improve physiologic disturbances and reduce x-ray changes. Corticosteroid therapy should be given to suppress troublesome or disabling symptoms such as difficulty breathing (dyspnea), severe pain in the joints (arthralgia), and fever; it should be begun promptly if active eye disease, respiratory failure, liver insufficiency, cardiac arrhythmia, central nervous system involvement, or hypercalcemia is present. Prednisone therapy is required by 1/2 of white patients and 2/3 of black patients with this disorder. Prednisone is given orally, and the treatment may be necessary for weeks, years, or, in some cases, indefinitely. Low maintenance doses are surprisingly effective in controlling symptoms. Clinical examinations, x-rays, and pulmonary function studies should be made at frequent intervals when dosage is being reduced or medication is terminated. Serious complications of corticosteroid therapy are infrequent when low doses are used for treatment of Sarcoidosis. A tuberculostatic antibacterial agent (isoniazid) therapy is indicated only for the few patients given corticosteroids who have positive tuberculin skin tests. Methotrexate (a folic acid antagonist) and chlorambucil (a cytotoxic alkylating agent) occasionally are effective in treatment of Sarcoidosis, but dramatic improvement with these medications is rare. They should be tried only when corticosteroids fail to improve the condition or are contraindicated. Therapies: Investigational Clinical trials are underway to study bronchoalveolar lavage in Interstitial Lung Disease. Interested persons may wish to contact: Gary W. Hunninghake, M.D. Dept. of Internal Medicine University of Iowa Iowa City, IA 52242 (319) 356-4187 to see if further patients are needed for this research. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sarcoidosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Sarcoidosis Resource Center P.O. Box 1593 Piscataway, NJ 08855-1593 (908) 699-0733 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 252. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 360-1, 451-7. Sarcoidosis %pagetitle 215: Sarcoidosis 04207.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 765: Sarcoma, Ewing's _________________________ ** IMPORTANT ** It is possible that the main title of the article (Ewing's Sarcoma) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Ewing Tumor Myeloma, Endothelial Endothelioma, Diffuse of Bones Information on the following diseases can be found in the Related Disorders section of this report: Osteosarcoma Malignant Lymphoma Chondrosarcoma Osteochondromas General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ewing's Sarcoma is a malignant round-cell bone tumor which usually occurs in the arm or the leg. It most commonly affects individuals between the ages of 10 and 20 years. Symptoms Ewing's Sarcoma appears as a tumor which can be felt if not seen, and is usually painful to the touch. Most of these tumors develop in the bones of the extremities, but any bone may be affected. The tumor tends to be extensive, sometimes involving the entire shaft of a long bone. It most commonly occurs in the bone that extends from the hip to the knee (femur) or from the shoulder to the elbow (humerus). Sometimes it occurs in the pelvis. Pain tends to increase with the duration of the tumor. There may be tenderness and swelling in the area, and often intermittent pain that worsens during the night. The skin overlying the tumor may be warm and superficial blood vessels may be prominent. The affected individual may also develop a fever and anemia. If untreated the tumor has a tendency to spread to the lungs, lymph nodes or the skull. Causes Ewing's Sarcoma is usually inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from the affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Ewing's Sarcoma most commonly occurs in young males between the ages of 10 and 20. There are approximately 200 different types of cancer, and bone cancers comprise some of the rarest forms. Related Disorders Symptoms of the following disorders can be similar to those of Ewing's Sarcoma. Comparisons may be useful for a differential diagnosis: Osteosarcoma is one of the most common types of primary bone tumor. It is highly malignant, and commonly spreads to the lungs. It is most common in persons aged 10 to 20 years although it can occur at any age. Most tumors are located in the knee region, but can be found in any bone. A painful mass is the most usual symptom. Malignant Lymphoma of the bone is a small round-cell tumor that most frequently affects adults in their 40's and 50's. It may arise in any bone. Pain and swelling are the most common symptoms. The cancer may spread to other soft tissue or bone. When Malignant Lymphoma occurs in the bone without evidence of disease elsewhere, the outlook is better than for any other primary malignant bone tumor. A combination of radiation and chemotherapy is standard treatment. Chondrosarcoma is a malignant tumor of the cartilage. Depending upon the severity of the tumor, it may grow slowly or rapidly. Rapid growing tumors usually spread. Chondrosarcomas have the ability to seed or implant in surrounding soft tissues. Treatment is usually by surgical removal, and care must be given during surgery to avoid entry into the tumor and spillage of the contents onto the soft tissues of the wound. Osteochondroma is the most common benign (noncancerous) bone tumor. It occurs most often in persons aged 10 to 20. An Osteochondroma may occur as a single or multiple tumor. A strong familial tendency toward multiple Osteochondromas may indicate a genetic predisposition to these tumors. Therapies: Standard Treatment of Ewing's Sarcoma consists of various combinations of surgery, chemotherapy and radiation therapy. Approximately 50% of patients are cured with appropriate treatment. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ewing's Sarcoma, please contract: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 242. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1301-1303. IMMUNOHISTOLOGICAL CHARACTERIZATION OF A EWING'S SARCOMA CASE. S. Lizard-Nacol et al.; CANCER DETECT PREV (1988: issue 12 (1-6)). Pp. 297-302. LONG-TERM RESULTS IN 144 LOCALIZED EWING'S SARCOMA PATIENTS TREATED WITH COMBINED THERAPY. G. Bacci et al.; CANCER (April 15, 1989: issue 63 (8)). Pp. 1477-1486. Sarcoma, Ewing's pagetitle 765: Sarcoma, Ewing's 04208.TXT VCopyright (C) 1991 National Organization for Rare Disorders, Inc. 855: Schmidt Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Schmidt Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Diabetes Mellitus, Addison's Disease, Myxedema Multiple Endocrine Deficiency Syndrome, Type II PGA II Polyglandular Autoimmune Syndrome, Type II Polyglandular Deficiency Syndrome, Type II Information on the following diseases can be found in the Related Disorders section of this report: APECED Syndrome (Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy) General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Schmidt Syndrome is a rare disorder in which there are multiple deficiencies in the glands that secrete hormones. This syndrome is characterized by the presence of Addison's disease and hypothyroidism. Insulin-Dependent Diabetes and failure of additional hormone secreting (endocrine) glands such as the gonads, parathyroids, and pancreas may also occur along with autoimmune type abnormalities. Most cases of this disorder are sporadic although some scientists believe that there could be a familial or hereditary trait associated with Schmidt Syndrome. Symptoms Symptoms of Schmidt Syndrome are: 1. Addison's Disease - a rare disorder characterized by chronic and insufficient functioning of the outer layer of the adrenal gland (adrenal cortex). Patients with Addison's Disease have a deficiency in the production of glucocorticoid hormones which are manufactured by the adrenal gland. These hormones (especially cortisol and aldosterone) are involved in carbohydrates, fat and protein metabolism, carbohydrate and blood sugar storage, and they fight inflammation and suppress the immune response. The deficiency in glucocorticoid causes an increased release of sodium and decreased release of potassium in the urine, sweat, saliva, stomach and intestines. These changes can cause low blood pressure and increased water excretion that can lead to severe dehydration. (For more information on this disorder choose "Addison's Disease" as your search term in the Rare Disease Database). 2. Hypothyroidism (under-active thyroid) - a disorder that can be genetic or acquired and may occur alone or as a symptom of another illness. Major symptoms may include the development of an enlarged thyroid gland in the neck, a dull facial expression, puffiness and swelling around the eyes, drooping eyelids, thinning hair which is coarse and dry, and poor memory. Hypothyroidism can be caused by disorders of the hypothalamus or pituitary centers in the brain, disorders that affect control of the thyroid hormone, blockage in the metabolic process of transporting thyroid or iodine in the thyroid gland itself, or the result of a hereditary disorder called Hashimoto's Thyroiditis. Hashimoto's Thyroiditis is an autoimmune disorder in which the body's natural defenses against invading organisms (i.e., antibodies, lymphocytes etc.) suddenly begin to attack healthy tissue. (For more information on these disorders choose "Hypothyroidism" and "Hashimoto" as your search terms in the Rare Disease Database). Some (but not all) of the following additional symptoms may be present in patients with Schmidt Syndrome: 3. Diabetes Mellitus - this type of diabetes generally starts during childhood or adolescence. The starches and sugars (carbohydrates) in the foods we eat are normally processed by digestive juices into glucose. The glucose circulates in the blood as a major energy source for body functions. A hormone produced by the pancreas (insulin) regulates the body's use of glucose. In Diabetes Mellitus the pancreas does not manufacture the correct amount of insulin needed to metabolize sugar. As a result, the patient needs daily injections of insulin to regulate blood sugar levels. Symptoms of this disorder may be frequent urination, extreme thirst, constant hunger, weight loss, itching of the skin, changes in vision, slow healing of cuts and bruises, and in children there is a failure to grow and develop normally. (For more information on this disorder choose "Insulin-Dependent Diabetes" as your search term in the Rare Disease Database). 4. Hypoparathyroidism - this disorder causes lower than normal levels of calcium in the blood due to insufficient levels of parathyroid hormones. This condition can be inherited, associated with other disorders, or the result of a neck injury. Symptoms of hypoparathyroidism may be weakness, muscle cramps, abnormal sensations of the hands such as burning and numbness, excessive nervousness, loss of memory, headaches, cramping of wrists and feet, and spasms in facial muscles. (For more information on this disorder choose "Hypoparathyroidism" as your search term in the Rare Disease Database). 5. Gonadal failure - the failure of the organ that produces sex cells (gonads-or testes in the male, and ovaries in the female) to function properly causing an absence of secondary sex characteristics. 6. Pernicious Anemia - is a blood disorder resulting from an impaired absorption of vitamin B-12. This vitamin is used in the production of red blood cells. Healthy individuals absorb sufficient amounts of vitamin B-12 in their normal diet with the help of a substance secreted by the stomach called intrinsic factor. Patients with Pernicious Anemia generally lack intrinsic factor and can not absorb sufficient amounts of vitamin B-12. Symptoms of vitamin B-12 Deficiency usually appear years after absorption of the vitamin ceases because B-12 is stored in large quantities in the liver. Symptoms of this disorder may be shortness of breath, fatigue, weakness, rapid heartbeat, angina, anorexia, abdominal pain, indigestion, and possibly intermittent constipation and diarrhea. (For more information on this disorder choose "Pernicious Anemia" as your search term in the Rare Disease Database). 7. Vitiligo - is a skin condition in which there is an absence of pigment producing cells (melanocytes) causing decreased pigmentation of the skin. These "white spots" on the skin appear most often on the face, neck, hands, abdomen, and thighs although they may appear on all parts of the skin. Vitiligo is sometimes familial, but the exact mode of heredity is not yet understood. (for more information on this disorder choose "Vitiligo" as your search term in the Rare Disease Database). 8. Celiac Sprue - is a chronic hereditary intestinal malabsorption disorder caused by intolerance to gluten. The most common symptoms of this disorder are weight loss, chronic diarrhea, abdominal cramping and bloating, intestinal gas and abdominal distention and muscle wasting. Celiac Sprue is a hereditary congenital disorder. Gluten is a protein which is present in wheat, oats, barley, rye and probably millet. Patients with Celiac Sprue cannot properly absorb a part of gluten called gliadin. This causes intestinal abnormalities as well as physiological deficiencies. Although the disorder begins in infancy, it is sometimes not diagnosed until the patient reaches adulthood. (For more information on this disorder choose "Celiac Sprue" as your search term in the Rare Disease Database). 9. Myasthenia Gravis - Sometimes this disorder can be associated with Schmidt Syndrome. Myasthenia Gravis is a chronic neuromuscular disease characterized by weakness and abnormally rapid fatigue of the voluntary muscles, with improvement following rest. Any group of muscles may be affected, but those around the eyes and the muscles used for swallowing are the most commonly involved. (For more information on this disorder choose "Myasthenia Gravis" as your search term in the Rare Disease Database). 10. Grave's Disease - is a disorder that affects the thyroid gland. It is thought to occur as a result of an imbalance in the immune system. This disorder causes increased thyroid secretion (hyperthyroidism), enlargement of the thyroid gland and protrusion of the eyeballs. The exact cause of this disorder is not known. It is thought to be inherited as an autosomal recessive trait. (For more information on this disorder choose "Graves Disease as your search term in the Rare Disease Database). Causes The exact cause of Schmidt Syndrome is not known. Many scientists feel that this syndrome has an autoimmune basis. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.) against invading organisms suddenly attack healthy tissue. It is also thought that Schmidt Syndrome may be inherited as an autosomal dominant or autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Schmidt Syndrome has been found to be familial in some cases but the majority of cases are thought to be sporadic and of unknown cause. Affected Population Schmidt Syndrome affects females approximately four times more than males. This disorder usually becomes apparent during adulthood with the average age of detection being approximately 30. Related Disorders Symptoms of the following disorders can be similar to those of Schmidt Syndrome. Comparisons may be useful for a differential diagnosis: APECED Syndrome (Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal) is a very rare genetic syndrome involving the autoimmune system. APECED Syndrome is a Type I polyglandular Autoimmune syndrome. This disorder is characterized by a combination of at least two of the following diseases: Hypoparathyroidism, Adrenocortical Failure or Candidiasis. Beginning in childhood, yeast infections of either the mouth or nails is usually one of the first apparent symptoms of this syndrome. There may be an inability to adequately absorb nutrients with resulting diarrhea. Anemia, autoimmune thyroid disease, and loss or delay of sexual development may also occur. (For more information on this disorder choose "APECED Syndrome as your search term in the Rare Disease Database). Therapies: Standard Each disorder in Schmidt Syndrome is treated separately. Chronic adrenal insufficiency is treated with drugs such as hydrocortisone and fludrocortisone to replace the cortisol and aldosterone that are missing in Addison's Disease patients. The daily dosage of hydrocortisone should be increased during periods of infection, trauma, surgery and other stresses. Other drugs called vasopressors may be needed to maintain blood pressure until the other measures take effect. Diabetes Mellitus is treated with a daily routine of insulin-injection, controlled diet, exercise to burn off glucose, and testing for blood sugar level. Urine testing for glucose spillage had been a standard recommendation in past years, but has now been replaced with self blood glucose testing. Self monitoring of blood glucose levels uses a single drop of blood which is obtained from a finger stick, and placed on a chemically treated pad on a plastic strip; the color change of the chemically treated pad is compared to a color chart or "read" by a battery operated portable meter. Insulin must be given by injection, usually two or more times each day. Recently portable "insulin pumps" have been developed, which permit continuous administration of insulin, as well as additional amounts of insulin when needed to control the changes in blood sugar level that occurs after meals. Hypothyroidism is treated with the administration of the synthetic thyroid hormone, levothyroxine. Other treatment includes the use of desiccated thyroid, thyroglobulin and triiodothyronine. Surgery to remove enlarged thyroid glands or diseased thyroid tissue may also be performed. If the use of drugs is responsible for suppression of thyroid function, then the drugs may be discontinued. Hormonal treatment is sometimes effective in the treatment of gonadal failure. The administration of intramuscular injections of B12 is the standard therapy for Pernicious Anemia. The amount given to the patient must be closely monitored by the physician. Vitamin B12 maintenance therapy generally must be continued for life as the untreated disease can be fatal. Small lesions of Vitiligo may be camouflaged with cosmetic creams. Paraaminobenzoic acid solution or gel gives protection against sunburn. Patients with Celiac Sprue must exclude gluten completely from their diet. Supplementary vitamins, minerals, and agents which improve blood formation (hematinics) may be prescribed depending upon the degree of the deficiency. Children, and rarely adults, who are seriously ill when they are first diagnosed may require a period of intravenous feeding. A few patients who do not respond adequately at first to gluten withdrawal may respond to a period of treatment with oral steroids such as prednisone. Treatment of Graves Disease in adults usually involves the use of radioactive iodine. However, in children and pregnant women, drugs that reduce release of thyroid hormones are preferred. Surgery as a method of treatment for Grave's Disease is usually reserved for patients in whom the other forms of treatment have not been successful. Lifelong follow-up is necessary if the thyroid is removed. For nearly forty years the anticholinesterase drugs, especially pyridostigmine and neostigmine, have been in the mainstays of treatment for Myasthenia Gravis. Mestinon Prostigmine and Tensilon are other drugs used in the treatment of this disorder. Treatment with ACTH (adrenocorticotropic hormone) can benefit severely ill myasthenia gravis patients, but a patient's condition may worsen temporarily before improving. Recently scientists at the National Institute of Neurological Disorders and Stroke are employing a new treatment for Myasthenia Gravis - long-term use of a high-single-dose, alternate-day oral prednisone regimen. This has proven beneficial over long periods in a majority of patients treated. Patients over 40, especially males, appear to respond best to this treatment. A surgical procedure for removing the thymus (thymectomy) has benefited a number of myasthenia gravis patients, many of whom were severely affected. Recent studies have led some physicians to believe that thymectomy should be performed routinely in many myasthenia gravis patients. Hypoparathyroidism is treated with calcium, ergocalciferol and dihydrotachysterol (forms of vitamin D). Genetic counseling may be of benefit for patients and their families who have the inherited form of Schmidt Syndrome. Therapies: Investigational At the present time, studies are being conducted on the effectiveness of Vitamin D3 as a treatment for Hypoparathyroidism. More research must be conducted to determine long-term safety and effectiveness of this treatment. In recent years, research supported by the National Institute of Diabetes, Digestive and Kidney Disease (NIDDK), and other components of the National Institutes of Health, and non-profit agencies that fund scientific research on diabetes, has yielded new and exciting information on the possible causes and improved management of diabetes and its complications. Scientists have now identified genetic factors that appear to be associated with diabetes - a finding that could lead to methods of prevention of the disorder in genetically susceptible persons. In related studies, the discovery that the insulin-producing beta cells can be infected and destroyed by common viruses could eventually result in the development of a vaccine to prevent diabetes. Pancreas transplantation has had limited success, primarily due to the problem of rejection. However recent advances in immunology have raised hopes that the problem of rejection reaction common in organ transplantation may be altered or prevented. These findings increase the possibility of transplanting healthy insulin-producing cells to correct the diabetic condition. Clinical studies to assess the effectiveness of programmable implantable insulin pumps for unstable diabetes have been successful for many patients. Although these advances hold great promise for the future, it is important to recognize that they are still in the research phase and are not part of the routine treatment of diabetes. The National Institute of Neurological Disorders and Strokes (NINDS) has studied plasmapheresis as a treatment for Myasthenia Gravis. Plasmapheresis (plasma exchange) is a method for removing unwanted elements (toxins, metabolic substances, and plasma parts affected by disease) from the blood. It is performed by removing blood, separating plasma from the other blood products, and replacing the plasma with clean human plasma. In Myasthenia Gravis, the immune system appears to attack the transmitter nerves at the muscle and nerve junctions, nerve pathways and certain nerve endings (acetylchline receptors). Plasmapheresis has been used successfully to strengthen patients before surgical removal of the thymus gland (thymectomy), and during the postoperative period. It can also be valuable in lessening symptoms during immune suppression drug treatment and during acute crisis attacks. However, more research is needed before plasmapheresis becomes a standard therapy, particularly because side effects of this treatment have not been fully evaluated. The effects of plasmapheresis are temporary, and it is not commonly used for routine treatment because of high cost and the effects tend to wear off after a short period of time. Cyclosporine, a potent drug that suppresses the immune system, is being tested as a treatment for Myasthenia Gravis. Some patients have shown gains in strength after using this drug. However, more research is necessary before cyclosporine can be used as a standard treatment for this disorder because it can cause kidney damage. This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Schmidt Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation, Inc. 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 Thyroid Foundation of America c/o Dr. Morris Wood Massachusetts General Hospital Boston, MA 02114 (617) 726-2377 American Diabetes Foundation National Service Center 1660 Duke Street Alexandria, VA 22314 (703) 549-1000 1-800-ADA-DISC (1-800-232-3472) Juvenile Diabetes Foundation International 60 Madison Avenue, 4th Floor New York, NY 10010 (212) 889-7575 National Foundation for Vitiligo & Pigment Disorders 9032 South Normandy Dr. Centerville, Ohio 45459 Celiac Sprue Association/USA 2313 Rocklyn Drive #1 Des Moines, IA 50322 (515) 270-9689 Myasthenia Gravis Foundation, Inc. 53 W. Jackson Blvd., Suite 1352 Chicago, IL 60604 1-800-541-5454 (312) 427-5751 National Digestive Diseases Information Clearinghouse P.O. Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 914-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1472 CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1265, 1333, and 1460-1461. THE MERCK MANUAL, 15th Ed.: Robert Berkow M.D., Editor: Merck Sharp & Dohme Research Laboratories, 1987. Pp. 1069. MYASTHENIA GRAVIS AND SCHMIDT SYNDROME. J.K. McAlpine, et al.; Postgrad Med J (Oct, 1988, issue 64(756)). Pp. 787-8. SCHMIDT SYNDROME: A RARE CASE OF PUBERTY MENORRHAGIA. J.B. Sharma, et al.; Int J Gynaecol (Dec, 1990, issue 33(4)). Pp. 373-5. Schmidt Syndrome Wpagetitle 855: Schmidt Syndrome 04209.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 371: Schwachman Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Schwachman Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Schwachman-Diamond Syndrome Metaphyseal Dysostosis (Type B IV) Burke Syndrome Neutropenia-Pancreatic Insufficiency Information on the following diseases can be found in the Related Disorders section of this report: Agranulocytosis Cystic Fibrosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Schwachman Syndrome usually begins in childhood and is characterized by insufficient digestive enzymes and low white blood cell count. Symptoms of this disorder may include chronic diarrhea, failure to grow due to improper digestion of nutrients, dwarfism and problems with bone growth. Persistent respiratory and skin infections usually occur and should be carefully guarded against. Symptoms Diarrhea is usually the initial symptom of Schwachman Syndrome. Infants with this disorder have frequent respiratory infections and tend to bleed easily due to a lowered number of blood clotting cells (platelets). Some cases may have anemia and/or failure to thrive due to insufficient absorption of nutrients from food. Dwarfism occurs in one-third of cases and bone deformities may cause impaired walking. Lowered resistance to respiratory and skin infections are major characteristics of this disorder. The symptoms of Schwachman Syndrome may mimic the respiratory and digestive symptoms of Cystic Fibrosis. (For more information on this disorder, choose "CF" as your search term in the Rare Disease Database). Causes The exact cause of Schwachman Syndrome is unknown. Insufficient amounts of digestive enzymes and white blood cells cause the digestive and respiratory characteristics of this disorder. Affected Population Schwachman Syndrome begins in infancy or early childhood. This disorder seems to affect males and females in equal numbers. Related Disorders Agranulocytosis is characterized by a marked decrease in the number of white blood cell components known as granulocytes. This results in increased susceptibility to infection. Major symptoms of this disorder include lesions of mucous membranes in the throat, gastrointestinal tract and skin. This disorder is also called granulocytopenia or Schultz disease. Side effects from drugs are the most common cause of Agranulocytosis. These drugs may include the alkylating agents, chemotherapeutic antimetabolites, phenothiazine derivatives, dibenzazepine compounds, antithyroid drugs, sulfonamides, antihistamines and anticonvulsants. (For more information on this disorder, choose "Agranulocytosis" as your search term in the Rare Disease Database). Cystic Fibrosis is an inherited respiratory disorder that affects the exocrine (outward-secreting) glands of the body in children and young adults. Mucous producing glands secrete mucous that is thick and sticky, clogging and obstructing air passages in the lungs and pancreatic and bile ducts. Cystic Fibrosis also causes dysfunction of salivary and sweat glands. There is presently no cure for CF, but with proper treatment, many of those affected can lead active lives. (For more information on this disorder, choose "CF" as your search term in the Rare Disease Database). Therapies: Standard Therapy for Schwachman Syndrome involves use of antibiotics to treat possible infections, pancreatic enzymes to correct deficiencies and a diet which is high in protein, calories and vitamins. Other treatment is symptomatic and supportive. Therapies: Investigational The French pharmaceutical manufacturer, FOURNIER, is developing the drug LF1695, which may restore the immune system in children with Hodgkin's Disease, Schwachman Syndrome, and Chagas Disease. Physicians interested in obtaining LF1695 may contact: Fournier Labs BP90, Daix, 21121 Fontaine Les Dijon, France This disease entry is based upon medical information available through May 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Schwachman Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Cystic Fibrosis Foundation 6931 Arlington Rd. Bethesda, MD 20814 1-800-FIGHT CF American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 References PANCREATIC LIPOMATOSIS IN THE SCHWACHMAN-DIAMOND SYNDROME. IDENTIFICATION BY SONOGRAPHY AND CT-SCAN: E. Robberecht, et. al.; Pediatr Radiol (1985, issue 15(5)). Pp. 348-349. CYSTIC FIBROSIS "FACTOR(S)": PRESENT ALSO IN SERA OF SCHWACHMAN'S PANCREATIC INSUFFICIENCY: G. Banchini, et. al.; Pediatr Res (July 1981, issue 15(7)). Pp. 1073-1075. CHRONIC DIARRHEA AND NEUTROPENIA NOT ASSOCIATED WITH PANCREATIC INSUFFICIENCY: A NON-SHWACHMAN-DIAMOND ENTITY: L.R. Marino, et. al.; J Pediatr Gastroenterol Nutr (1983, issue 2(3). Pp. 559-562.' Schwachman Syndrome ith g pagetitle 371: Schwachman Syndrome 04210.TXT `UZUCopyright (C) 1986, 1987, 1988, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 69: Scleroderma _________________________ ** IMPORTANT ** It is possible that the main title of the article (Scleroderma) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms PSS Systemic Sclerosis Progressive Systemic Sclerosis Sclerosis, Familial Progressive Systemic Disorder Subdivisions: Morphea Linear Scleroderma CREST Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Mixed Connective Tissue Disease Lupus (Systemic Lupus Erythematosus) Polymyositis Dermatomyositis Raynaud's Disease and Phenomenon General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Scleroderma is a rare connective tissue disorder characterized by abnormal thickening of the skin. Connective tissue is composed of collagen which supports and binds other body tissues. There are several types of Scleroderma. Some types effect certain parts of the body, and other types can effect the whole body and internal organs (systemic). Symptoms The early symptoms of Scleroderma vary considerably. Distinctive abnormalities on the skin (cutaneous lesions) usually appear later in the course of the disease. Common symptoms of Scleroderma may include painful joints (arthralgia), morning stiffness, fatigue, and/or weight loss. The intermittent loss (triggered by cold temperatures) of blood supply to the fingers, toes, nose, and/or ears (Raynaud's Phenomenon) is an early and frequent complaint of people with Scleroderma. People with Scleroderma have areas of skin that become hard and leathery (indurated). These areas of hardness are widespread and typically appear on both sides of the body. Eventually tissue loss (atrophy) occurs and the skin becomes more highly colored (hyperpigmentation). Morphea, or localized Scleroderma, usually begins between the ages of 20 to 50 years as patches of yellowish or ivory-colored rigid, dry skin (inflammatory stage). These are followed by the appearance of firm, hard, oval-shaped plaques with ivory centers that are encircled by a violet ring. These spots generally appear on the trunk, face, and/or extremities. Many patients with localized Morphea improve spontaneously (without treatment). Generalized Morphea is more rare and serious, and involves the skin (dermis) but not the internal organs. Linear Scleroderma appears as a band-like thickening of skin on the arms or legs. This type of Scleroderma is most likely to be on one side of the body (unilateral) but may be on both sides (bilateral). Linear Scleroderma generally appears in young children and is characterized by the failure of one limb (i.e., arm or leg) to grow as rapidly as its counterpart. The band of thick skin may extend from the hip to the heel or from the shoulder to the hand. Deep tissue loss may occur along this band. Systemic Scleroderma includes a wide range of symptoms including inflammatory diseases of the muscles (i.e., Polymyositis or Dermatomyositis), swelling (edema) of the fingers and/or hands, microvascular abnormalities, lung disease (i.e., progressive interstitial fibrotic pulmonary disease), kidney dysfunction (i.e., rapidly progressive renal failure), cardiovascular problems (i.e., myocardial accelerated hypertension), gastrointestinal malfunction (i.e., lack of mobility of the esophagus and colon), and/or abnormalities of the immune system. (For more information, choose "Polymyositis" and "Dermatomyositis" as your search terms in the Rare Disease Database.) CREST Syndrome is an acronym for calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly and telangiectasia. Calcinosis is the abnormal accumulation of calcium salts under the skin and in many other organs. Raynaud's Phenomenon is a vascular disorder characterized by the intermittent loss of blood to various parts of the body particularly the fingers, toes, nose, and/or ears. This typically occurs after exposure to cold and causes tingling sensations, numbness, and/or pain. Dysfunction of the lower esophagus results in heartburn (acid reflux into the throat and mouth) and possible scarring. The esophagus may eventually have areas that are narrowed (strictures), and swallowing may become difficult. The small intestine may also lose the ability to push food through to the large intestine (peristalsis) leading to malabsorption and increased bacterial growth in the small intestine. Sclerodactyly, a condition in which the skin becomes thin, shiny, and bright, results in decreased function of the fingers and toes. Telangiectasia, the appearance of small blood vessels near the surface of the skin, is unsightly but not debilitating. Patients with the CREST Syndrome are at increased risk of developing pulmonary hypertension. (For more information, choose "Raynaud" and "Pulmonary Hypertension" as your search term in the Rare Disease Database.) Causes The exact cause of Scleroderma is unknown. The immune system and vascular system, and connective tissue metabolism are known to play some part in the disease process. Affected Population Scleroderma is a rare disorder that affects approximately 50,000 to 100,000 people in the United States. The disease is 3 to 4 times more common in women than men. Scleroderma may occur at any age, but the symptoms most frequently begin in midlife. Related Disorders Symptoms of the following disorders can be similar to those of Scleroderma. Comparisons may be useful for a differential diagnosis: Mixed Connective Tissue Disease (MCTD) is a rare inflammatory disorder of the connective tissue. The symptoms of this disorder overlap with those of Lupus (Systemic Lupus Erythematosus), Scleroderma and Polymyositis/Dermatomyositis. Early symptoms may include a fever of unknown origin, painfully cold fingers in response to cold (Raynaud's Phenomenon), swollen hands, fatigue, and/or non-deforming arthritis. Arthritis occurs in almost every case of Mixed Connective Tissue Disease, but rarely results in deformities similar to those seen in Rheumatoid Arthritis. People with Mixed Connective Tissue Disease commonly experience muscle pain and skin rashes. (For more information on this disorder, choose "Mixed Connective Tissue Disease" as your search term in the Rare Disease Database.) Lupus (Systemic Lupus Erythematosus or SLE) is a rare inflammatory connective tissue disease. The initial symptom of this disease is usually excessive fatigue. Most people with Lupus experience inflammation and swelling of the joints (arthritis), joint pain (arthralgia), and generalized muscle pain (myalgia). Skin rashes are common in people with Lupus. About 50 percent of people with Lupus get a classic red "butterfly" rash across the bridge of the nose and cheeks. Other early symptoms may include fever, swollen glands, loss of appetite, weight loss, headaches, loss of hair, and swelling due to fluid retention. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database.) Polymyositis is a rare inflammatory disorder characterized by the inflammation and degeneration of muscle and the supporting collagen connective tissue. The cause of this disorder is not known. The major early symptom of this disorder is muscle weakness usually in the neck, trunk and shoulders. Eventually it may become difficult to rise from a sitting position, climb stairs, lift objects and/or reach overhead. Occasionally, joint pain and tenderness also occur. Other symptoms may also include inflammation of the lungs (interstitial pneumonitis), difficulty breathing, coughing, painfully cold fingers in response to cold (Raynaud's phenomenon), digestive problems, heart irregularities, and kidney failure. (For more information on this disorder, choose "Polymyositis" as your search term in the Rare Disease Database). Dermatomyositis is a rare inflammatory connective tissue disease. The cause is unknown. Dermatomyositis is identical to Polymyositis but with the addition of a characteristic red skin rash. These red rashes generally occur before the muscle weakness occurs and usually appear on the face, knees, shoulders and hands. In some patients the skin changes caused by Dermatomyositis are similar to those of Scleroderma. The skin may become dry, hard and have a brownish color. (For more information on this disorder, choose "Dermatomyositis" as your search term in the Rare Disease Database). Raynaud's Disease is a rare disorder characterized by spasms of the blood vessels in the fingers, toes, nose, and ears (Raynaud's Phenomenon) usually in response to cold. Raynaud's Disease includes the symptoms of Raynaud's Phenomenon along with other systemic disorders. The major symptom of this disorder is a dramatic stark white pallor of the affected fingers and toes when exposed to cold, although a blue or red color may also be present from time to time. Other symptoms in the affected fingers and toes vary in response to cold and may include a feeling of numbness, severe aching or pain, tingling or throbbing, a sensation of tightness, "pins and needles," and/or a profound loss of sensation. (For more information on this disorder, choose "Raynaud's" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Scleroderma is symptomatic and supportive. Medications used to control the hardening of the skin and internal organs (fibrosis) are D-penicillamine and cholchicine. Other skin care may include lubricating creams or antibiotic ointments for infected ulcerations. Captopril and enalapril, angiotensin-converting enzyme inhibitors that inhibit the formation of angiotensin, are the drugs of choice for the treatment of kidney disease associated with Scleroderma. Other vasodilators or beta-adrenergic blockers also have been used with some success. These agents are effective in controlling hypertension and can preserve kidney function. If Raynaud's Phenomenon occurs with Scleroderma, drug therapy may help dilate blood vessels. Vasodilators, including the drugs nifedipine (Procardia), reserpine (Serpasil), guanethidine (Ismelin), phenoxybenzamine (Dibenzyline), nicotinic acid, diltiazem, verapamil, and/or prazosin (Minipress) are prescribed. In rare cases of Scleroderma, calcinosis may require surgical intervention. For joint pain or arthritis, anti-inflammatory drugs are generally prescribed including aspirin, indomethadin (Indocin), and naproxen (Naprosyn). Some patients may require low-doses of corticosteroid drugs to control these symptoms. The management of symptoms of Scleroderma related to pulmonary hypertension involves the use of supplemental oxygen. When abnormalities of the heart occur (myocardial perfusions) as a result of Scleroderma, the drugs nifedipine and dipyridamole may be administered. Nonsteroidal anti-inflammatory or corticosteroid drugs are typically used to treat the symptoms relating to the inflammation of the membranes of the heart (pericarditis). When Scleroderma causes the esophagus and/or gastrointestinal tract to become inflamed or ulcerated, the treatments of choice are drugs known as H2 blockers such as cimetidine or ranitidine; omeprazole may also be used. Metoclopramide has been beneficial in treating the symptoms associated with gastrointestinal dysmotility. Acid reflux from the stomach into the esophagus may be partially controlled by dietary regulation. Patients are urged to avoid certain foods such as fats, spices, tea, coffee and alcohol. Several small and frequent meals per day lighten the work of the gastrointestinal system. Sitting upright for at least 2 hours after eating aids the digestive process. Good oral hygiene is important because gum disease is common in Scleroderma. Some patients suffer from excessive dryness of the mouth and eyes. The combination of dry mouth and dry eyes is known as Sjogren's Syndrome. (For more information choose "Sjogren" as your search term in the Rare Disease Database.) Therapies: Investigational Many possible causes of Scleroderma and other "sclerosis-like" connective tissue diseases are currently being investigated. These include a wide variety of chemical and environmental exposures (i.e., vinyl chloride, pentazocine, silicone, tricholorethylene, paraffin), as well as the use of adulterated L-tryptophan and appetite suppressants. There is some evidence that Scleroderma seems to cluster in certain geographic areas. Other studies have suggested that the tendency to develop Scleroderma and other sclerosis-like diseases runs in families. Scientists are studying the possible inheritance of a genetic trait that would predispose a person to this disorder. Some studies suggest the presence of an antibody that causes chromosomes to break (anticentromere antibody) in some people with CREST Syndrome. Other research suggests that a spontaneous genetic change (de novo) may cause a genetic predisposition to Scleroderma. A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease. It has been suggested that Scleroderma is actually a group of distinct disorders each of which has its own characteristic genetic or environmental predisposing risk factors. Several experimental treatments are currently being evaluated for use in treating people with Scleroderma. The orphan drug etretinate (Tigason) is now under study in the United States for the treatment of certain types of Scleroderma. The early steps of the production of excess collagen by cells may be blocked by Vitamin A components (retinoids) in etretinate. Excess collagen production is a primary abnormality of Scleroderma. It should be remembered that although this orphan drug is available experimentally in the United States, it is still under study and conclusive results are not yet available. The Arthritis Unit of Massachusetts General Hospital and the New England Deaconess Hospital are evaluating the effects of recombinant gamma-interferon in individuals with Scleroderma. More testing is necessary to determine the safety and effectiveness of this treatment. Interferon is a potential therapy for Scleroderma because of its inhibition of excessive synthesis of collagen, but side effects are common. The drug ketanserin, a serotonin antagonist, is being tested for treatment of the abnormal blood flow in the fingers caused by Raynaud's Phenomenon associated with Scleroderma. More research is needed before these types of drugs will be available for more general use. Cyclosporine (Sandimmune) may be of potential benefit for treating a number of skin diseases, including those seen in collagen vascular diseases. These include Pemphigus, Bullous Pemphigoid, Posterior Uveitis, Bechet's Disease, and collagen vascular disorders such as Scleroderma, severe Dermatomyositis, Sjogren's Syndrome, Mycosis Fungoides, and Alopecia Areata. Certain types of skin grafts have sometimes improved after cyclosporine treatment. However, cyclosporine is toxic and it reduces the function of the immune system; therefore, it is not ordinarily used to treat Scleroderma. Relapses can occur when the drug is stopped. More research is needed before cyclosporine can be recommended as a treatment for all but the most severe cases of Scleroderma. (For more information choose "Pemphigus," "Bechet," "Dermatomyositis," "Sjogren," "Mycosis Fungoides," and "Alopecia Areata" as your search term in the Rare Disease Database.) A treatment known as photochemotherapy is under investigation for people with Scleroderma. During this procedure, blood in removed from the body (as in dialysis) and certain blood cells (monocytes) are "washed" with a drug (8-methoxypsoralen). The blood is then exposed to ultraviolet light (type A). This process is known as photopheresis. It is hoped that this treatment might suppress collagen production and increase the levels of an enzyme that breaks down collagen (collagenase). More study is needed to determine the long-term safety and effectiveness of this treatment. Scleroderma has been treated experimentally with the local anesthetic and anti-inflammatory drug, dimethyl sulfoxide (DMSO), as part of the Arthritis research program of the National Institute of Arthritis, Musculoskeletal and Skin Diseases. These investigational studies are being performed to determine the long-term effect of this drug on patients suffering from Scleroderma. Octreotide Acetate (Sandostatin), manufactured by Sandoz, is being studied as a treatment for the intestinal motility problems of people with Scleroderma. In a study of patients with Scleroderma and control patients, octreotide acetate was given to increase motility and relieve abdominal symptoms. More study is indicated to determine the long-term safety and effectiveness of this drug for Scleroderma. Clinical trials are underway to test the orphan drug chlorambucil as a treatment for Scleroderma. For more information, patients may have their physicians contact: Daniel Furtst, M.D. University of Iowa Iowa City, IA 52240 Scientists are studying a new orphan drug, Iloprost, for treatment of Raynaud's Phenomenon when it occurs along with Scleroderma. The drug is manufactured by Berlex Laboratories. More research is needed to determine the safety and effectiveness of this experimental treatment. Clinical trials are underway to study bronchoalveolar lavage in Interstitial Lung Disease that can be associated with Scleroderma. For more information, patients may have their physicians contact: Gary W. Hunninghake, M.D. Pulmonary Disease Division, C33, GH Dept. of Internal Medicine University of Iowa Hospitals and Clinics Iowa City, IA 52242 (319) 356-4187 Clinical trials are underway to study the safety and efficacy of Xomazyme COS. For more information, patients may have their physicians contact: Dr. Thomas D. Geppart University of Texas Southwestern Medical Center 5323 Harry Hines Blvd. Dallas, TX 75235 (214) 688-8351 This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Scleroderma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Scleroderma Society/Federation 1182 Teaneck Rd., Suite 104 Teaneck, NJ 107666 (201) 837-9826 Scleroderma Federation One Newbury St. Peabody, MA 01960 (508) 535-6600 Scleroderma Research Foundation Pueblo Medical Commons 2320 Bath St., Suite 307 Santa Barbara, CA 93105 (805) 563-9133 (800) 441-CURE United Scleroderma Foundation, Inc. P.O. Box 350 Watsonville, CA 94077-0350 (408) 728-2202 Scleroderma International Foundation 704 Gardner Center Road New Castle, PA 16101 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1006. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1530-35. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 1321-1323. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1515-1516. THE MANY FACES OF SCLERODERMA. J.D. Smiley; Am J Med Sci (Nov 1992; 304(5)). Pp. 319-33. TREATMENT OF SYSTEMIC SCLEROSIS. T.A. Medsger; Ann Rheum Dis (Nov 1991; 50(4)). Pp. 877-886. USE OF ANGIOTENSIN-CONVERTING-ENZYME INHIBITORS IN THE MANAGEMENT OF RENAL DISEASE. J.P. Asher; Clin Pharm (Jan 1991; 10(10)). Pp. 25-31. TREATMENT OF SYSTEMIC SCLEROSIS. V. Steen; Curr Opin Rheumatol (Dec 1991; 3(6)). Pp. 979-85. EPIDEMIOLOGY OF SCLERODERMA. A.J. Silman; Curr Opin Rheumatol (Dec 1991; 3(6)). Pp. 967-72. TREATMENT OF SYSTEMIC SCLEROSIS. F.M. Wigley; Curr Opin Rheumatol (Dec. 1992; 4(6)). Pp. 878-886. GENETIC AND ENVIRONMENTAL FACTORS IN SYSTEMIC SCLEROSIS. R.I. Fox; Curr Opin Rheumatol (Dec 1992 4(6)). Pp. 857-61. EXTRACORPOREAL PHOTOCHEMOTHERAPY INDUCES THE PRODUCTION OF TUMOR NECROSIS FACTOR-ALPHA BY MONOCYTES: IMPLICATIONS FOR THE TREATMENT OF CUTANEOUS T-CELL LYMPHOMAS AND SYSTEMIC SCLEROSIS. B.R. Vowels; J Invest Dermatol (May 1992; 98(5)). Pp. 686-692. TREATMENT OF AUTOIMMUNE DISEASE WITH EXTRACORPOREAL PHOTOCHEMOTHERAPY: PROGRESSIVE SYSTEMIC SCLEROSIS. A.H. Rook; Yale J Biol Med (Nov-Dec 1989; 62(6)). Pp. 639-645. Scleroderma bVpagetitle 69: Scleroderma 04211.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 491: Seckel Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Seckel's Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Bird-Headed Dwarf of Seckel Bird-Headed Dwarfism Seckel's Dwarfism Nanocephaly Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Information on the following diseases can be found in the Related Disorders section of this report: Hallermann-Streiff-Francois Syndrome Fanconi's Anemia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Seckel Syndrome is a genetic form of dwarfism characterized by low birth weight, a small head, large eyes, beak-like protrusion of the nose, narrow face, and receding lower jaw. Also known as "Bird-Headed Dwarfism", this disorder is often marked by abnormalities in skin pigmentation. Various congenital malformations can be accompanied by dental abnormalities and mental retardation. Symptoms Seckel Syndrome, also known as "Bird-Headed Dwarfism", is characterized by low birth weight, dwarfism, and congenital malformations such as dislocation of the hips, clubfoot, abnormally small kidneys, and deformity of the liver. Mental retardation and an abnormally small head with a receding forehead, narrow face, large eyes, beak-like protrusion of the nose, and receding lower jaw are sometimes accompanied by dental alterations. Hypoplastic (underdeveloped) tooth enamel, a high arched roof of the mouth (palate), and missing or atrophic teeth tend to occur in approximately sixty percent of cases. Causes Seckel Syndrome ("Bird-Headed Dwarfism") is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Seckel Syndrome ("Bird-Headed Dwarfism") occurs at a rate of approximately one in 10,000 live births. According to one medical study, approximately sixty cases had been identified between 1960 (when this disorder was first identified) and 1982. Seckel Syndrome affects males and females in equal numbers, and tends to affect more than one person in a family. Related Disorders Symptoms of the following disorders can be similar to those of Seckel Syndrome (Bird-Headed Dwarfism). Comparisons may be useful for a differential diagnosis: Hallermann-Streiff-Francois Syndrome, also known as mandibulo-oculofacial dyscephaly, is a syndrome of bony abnormalities of the roof of the skull (calvaria), face and jaw. Additionally, patients have a bird-like face with a narrow curved nose, and multiple eye defects including abnormally small eyeballs and corneas, and cataracts. Hair can be thinned or absent, and eyebrows may be absent or underdeveloped. Premature aging (progeria) and atrophy of the skin, particularly the elastic tissue, may also be present. (For more information on this disorder, choose "Hallermann" as your search term in the Rare Disease Database.) Fanconi's Anemia is a rare form of familial aplastic anemia found chiefly in children of Mediterranean ancestry. It is characterized by bone abnormalities, an abnormally small head (microcephaly), underdeveloped genitalia, and brown pigmentation of the skin. Complications can include infections such as pneumonia and meningitis, excessive bleeding (hemorrhage), and leukemia. Although other symptoms are similar to those of Fanconi's Anemia, patients with Seckel Syndrome can be distinguished by the presence of a receding forehead and chin, large eyes, and a large beaked nose. (For more information on this disorder, choose "Fanconi" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Seckel Syndrome ("Bird-Headed Dwarfism") is symptomatic and supportive. Genetic counseling and service agencies which benefit physically disabled and/or mentally retarded individuals and their families can be helpful. Therapies: Investigational This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on this Seckel Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1 BS England 01-678-2984 NIH/National Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles: MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 859. PIGMENTARY CHANGES IN SECKEL'S SYNDROME: A. Fathizadeh, et al.; J Am Acad Dermatol (July 1979, issue 1(1)). Pp. 52-54. SECKEL SYNDROME: AN OVERDIAGNOSED SYNDROME: E. Thompson, et al.; J Med Genet (June 1985, issue 22(3)). Pp. 192-201. MICROCEPHALY, MICROGNATHIA, AND BIRD-HEADED DWARFISM: PRENATAL DIAGNOSIS OF A SECKEL-LIKE SYNDROME: D.F. Majoor-Krakauer, et al.; Am J Med Genet (May 1987, issue 27(1)). Pp. 183-188. Seckel Syndrome pagetitle 491: Seckel Syndrome 04212.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 374: Seitelberger Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Seitelberger Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Infantile Neuroaxonal Dystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Seitelberger Disease is an inherited central nervous system disorder usually beginning before the age of two years. Progressive muscular and coordination difficulties, speech problems, vision deficits and impaired brain function may occur with this disorder. Symptoms Children with Seitelberger Disease may experience difficulty in walking and/or speaking. A decreased sensitivity to pain may develop in the legs and trunk. Coordination may become impaired, decreased muscle tone, "floppiness", muscle spasms (spasticity) and/or weakening of reflexes may also occur. In later stages, involuntary rapid eye movement, progressive vision problems and seizures can occur. Causes Seitelberger Disease is inherited as an autosomal recessive trait. Some medical researchers believe that Seitelberger Disease may be the infantile form of Hallervorden-Spatz Syndrome. (For more information on this disorder, choose "Hallervorden" as your search term in the Rare Disease Database.) Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Seitelberger Disease usually begins before the age of two years. This disorder affects males and females in equal numbers. Related Disorders Hallervorden-Spatz Disease is a disorder which causes degeneration of the central nervous system. Usually beginning at about age eight, this disorder may occur anytime between birth to twenty years of age. A person with Hallervorden-Spatz Disease may develop slow steady muscle contractions thereby distorting limbs, neck, face, mouth or trunk into certain unnatural positions (Dystonia). Muscular rigidity (uncontrolled tightening of the muscles) or spontaneous nonrepetitive slow writhing movements (usually of the arms or legs) can also occur. Muscle spasms (Spasticity) may be present in one-third of affected individuals. Late Infantile Metachromatic Leukodystrophy usually affects children less than two years of age. This disorder is characterized by muscle coordination impairment, rigidity, mental deterioration and in some cases, convulsions. It is inherited as an autosomal recessive trait. Much is known about the origin of this disorder and genetic counseling is now possible. (For more information on the above disorders, choose "Hallervorden," "Torsion Dystonia," and "Metachromatic Leukodystrophy" as your search terms in the Rare Disease Database.) Primary Optic Atrophy can be a symptom of Seitelberger Disease affecting the eyes. Primary Optic Atrophy causes diminished visual acuity and decreased ability to see light. Symptoms may be caused by degeneration, shrinkage or disappearance of nerve fibers. Therapies: Standard Treatment of Seitelberger Disease is symptomatic and supportive. Genetic counseling may be of benefit to families of patients with this disorder. Services for visually and/or mobility impaired people may be of assistance to people with Seitelberger Disease. Therapies: Investigational This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Seitelberger Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Children's Brain Diseases Foundation For Research 350 Parnassus, Suite 900 San Francisco, CA 94117 (415) 566-5402 (415) 565-6259 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 896-3211 (800) 728-5483 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France National Ataxia Foundation 750 Twelve Oaks Center 15500 Wayzata Blvd. Wayzata, MN 55391 (312) 473-7666 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References NEUROAXONAL DYSTROPHY IN CHILDHOOD. REPORT OF TWO SECOND COUSINS WITH HALLERVORDEN-SPATZ DISEASE, AND A CASE OF SEITELBERGER'S DISEASE: K. Kristensson, et. al.; Acta Paediatr Scand (Nov. 1982, issue 71(6)). Pp. 1045-1049. HISTOLOGICAL AND ULTRASTRUCTURAL FEATURES OF DYSTROPHIC ISOCORTICAL AXONS IN INFANTILE NEUROAXONAL DYSTROPHY (SEITELBERGER'S DISEASE): M.H. Mitchell, et. al.; Acta Neuropathol (Berl) (1985, issue 66(2)). Pp. 89-97. Seitelberger Disease pagetitle 374: Seitelberger Disease 04213.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 496: Septo-Optic Dysplasia _________________________ ** IMPORTANT ** It is possible the main title of the article (Septo-Optic Dysplasia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms De Morsier Disease De Morsier Syndrome Dwarfism-Septo-Optic Dysplasia Information on the following disorder may be found in the Related Disorders section of this report: Absent Septum Pellucidum with Porencephalies General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Septo-Optic Dysplasia is a birth defect characterized by a malformed optic disk, pituitary deficiencies, and often the absence of the "septum pellucidum" which separates the anterior horns of the lateral ventricles of the brain. As a consequence of these abnormalities visual impairment and/or deviation of the eyes, and deficiencies of pituitary hormones such as adrenocorticotropic hormone (ACTH), prolactin, thyrotropin releasing hormone and/or growth hormone may occur. Symptoms Symptoms of Septo-Optic Dysplasia are present at birth. The primary symptom is decreased sharpness of vision. An involuntary rapid horizontal, vertical, or rotatory movement of the eyeballs (nystagmus) may also occur and the response of the pupils to light may vary among patients. Deviation of the eyes inward and outward (esotropia and exotropia) sometimes also occur. The extent of pituitary hormone deficiency may vary. In a few cases prolonged yellow skin discoloration (jaundice) occurs at birth. Mental retardation or learning disabilities may also occur. If growth hormone deficiency is not treated during childhood, the child's growth may be stunted. Causes The cause of Septo-Optic Dysplasia is not known. There is no evidence that this is a hereditary disorder. Affected Population Children born with Septo-Optic Dysplasia are often first born children of young mothers. This very rare disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorder may resemble those of Septo-Optic Dysplasia. Comparisons may be useful for a differential diagnosis: Absent Septum Pellucidum with Porencephalies is a rare disorder characterized by atrophy of one part of the brain (hemiatrophy), rapid movements of the eye (nystagmus), seizures and short stature. These symptoms are present at birth. Therapies: Standard Treatment for Septo-Optic Dysplasia is symptomatic and supportive. Deficiencies of pituitary hormones such as ACTH may be treated by hormone replacement therapy such as synthetic ACTH or cortisone, and/or human growth hormone. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Septo-Optic Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References HORMONAL, METABOLIC, AND NEURORADIOLOGIC ABNORMALITIES ASSOCIATED WITH SEPTO-OPTIC DYSPLASIA: S.A. Arslanian, et al.; Acta Endocrinol (Copenh) (October 1984: issue 107(2)). Pp. 282-288. ABSENCE OF THE SEPTUM PELLUCIDUM. OVERLAPPING CLINICAL SYNDROMES: S.A. Morgan, et al.; Archives Neurol (August 1985: issue 42(8)). Pp. 769-770. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 673. Septo-Optic Dysplasia pagetitle 496: Septo-Optic Dysplasia 04214.TXT 1Copyright (C) 1986, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 77: Severe Combined Immunodeficiency _________________________ ** IMPORTANT ** It is possible that the main title of the article (Severe Combined Immunodeficiency) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms SCID DISORDER SUBDIVISIONS: Autosomal recessive SCID Adenosine deaminase (ADA) deficiency ADA Deficiency X-linked recessive SCID Bare lymphocyte syndrome SCID with leukopenia, also known as reticular dysgenesis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Severe Combined Immunodeficiency (SCID) comprises a group of congenital syndromes in which there appears to be no adaptive immune function whatever. Both the ability to acquire immunity (cell mediated immunity) and to form antibodies (humoral immunity) are absent. Thus the patient lacks all resistance against bacteria, viruses, fungi, and other infectious agents. Untreated SCID results in frequent, severe infections, growth retardation and a short life span. Several causes and types of SCID have been identified. Symptoms Young infants with SCID usually have some protection against infection because they retain maternal antibodies during the first few months of life. After this period, however, infections become extremely frequent. Otitis media, pneumonia, sepsis, diarrhea, and skin infections recur constantly. The child becomes thin and weak, and growth slows drastically. Opportunistic organisms that may cause fatal infections include Candida albicans (a yeast that normally causes thrush and related infections), vaccinia, varicella (chickenpox), measles, cytomegalovirus, and the live bacteria in the BCG vaccine against tuberculosis. Pneumocystis carinii is a common cause of pneumonia that is very difficult to treat. SCID patients also do not reject foreign tissue. Immunocompetant cells introduced into the patient's body may cause graft-versus-host-disease, reacting primarily against the recipient's skin, liver, gut, and bone marrow. Such cells may derive from the administration of fresh whole blood containing incompatible lymphocytes, or unmatched bone marrow. The patients do not reject transplants which facilitates the transplantation of bone marrow, one of the only effective treatments in this disorder. Patients do not have cutaneous reactions to antigens, and they do not develop allergic reactions. After immunization, no antibodies are formed; if immunization is with a live vaccine, fatal infections may ensue. Many individuals with SCID related to adenosine deaminase deficiency have skeletal abnormalities, particularly of the rib cage. T- and B-lymphocytes in the blood of SCID patients are usually severely reduced in number or absent, as are serum immunoglobulins (antibodies). In some patients, individual immunoglobin classes may be present in normal or even elevated concentrations, and rarely, a patient may have low or normal numbers of B- and/or T-lymphocytes. None of these cells, or proteins, however, function properly. SCID patients have small, undeveloped thymuses, their lymph nodes are devoid of lymphocytes, and tonsils, adenoids, and other lymphoid organs are poorly developed or absent. In SCID with leukopenia, sometimes known as reticular dysgenesis, granular leukocytes are also absent or greatly reduced in number. The granulocytes are white blood cells which engulf invading microorganisms, especially bacteria. Patients with SCID with leukopenia have virtually no means of removing invading organisms from the body. Causes Hereditary SCID occurs in autosomal recessive and X linked recessive forms. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Some cases of autosomal recessive SCID can be attributed to a deficiency of the enzyme adenosine deaminase (ADA). A lack of ADA results in high levels of adenosine in the plasma. Lymphocytes "trap" unusually high levels of this adenosine because they have an enzyme which converts it to deoxyadenosine triphosphate. This substance cannot leave the cell, and it affects the regulation of DNA synthesis. In this way, cell division, the production of antibodies, and other metabolic processes are severely disrupted. In the "bare lymphocyte" syndrome, clinical SCID is associated with a lack of histocompatibility antigens and B2 microglobin on the lymphocytes. Both of these proteins help distinguish cells belonging to the individual from foreign ones; in addition, it is thought that they are essential to the maturation of functional T-lymphocytes. Affected Population Severe Combined Immunodeficiency is estimated to occur with a frequency of about 1 in 100,000 to 500,000 live births. Related Disorders Various other forms of immunodeficiency exist. They include the acquired immune deficiency syndrome, isolated defects of T-cell function, and various antibody disorders. Therapies: Standard Bone marrow transplantation can cure this disorder if an identical match can be found to donate the marrow. Graft-versus-host (GVH) disease often occurs, and may be severe if the tissues are poorly matched. The use of haplo-identical bone marrow cells, treated to remove those cells likely to cause GVH disease, but leaving stem cells intact, has facilitated this procedure greatly. Fetal liver grafts, which contain lymphoid and white blood stem cells, have been effective in some cases in restoring T-cell function, but not in restoring the ability to produce antibodies. Fetal thymus grafts have usually been unsuccessful. In ADA deficiency, limited immunologic function may be restored by regularly transfusing red blood cells, which seem to be able to absorb and metabolize some of the excess circulating adenosine. Care must be taken to remove viable lymphocytes, as these could produce GVH disease. Iron overload is a possible side effect. In isolated cases, agents such as transfer factor, thymosin, and levamisole may augment existing cellular immunity. In 1990 the FDA approved PEG-ADA, an orphan drug that replaces the ADA enzyme deficiency in SCID. Children taking PEG-ADA through a weekly injection have had a normal immune system restored and they are recovering from infections that might previously have been deadly. For more information on PEG-ADA, please contact: Enzon Inc. 300C Corporate Court South Plainfield, NJ 07080 (201) 668-1800 Infections in people with SCID must be treated vigorously with antifungal, antibiotic, and supportive measures. P. carinii pneumonia can be particularly difficult to treat; the two drugs used are usually trimethoprim-sulfamethoxazole and the orphan drug pentamidine idethionate. (For further information on treatment, choose "AIDS" as your search term in the Rare Disease Database.) Cytomegalovirus and generalized herpes simplex infections are preferentially treated with idoxuridine, floxuridine, or cytabaradine. Severe candida and related fungii usually respond to amphotericin B therapy. Therapies: Investigational Scientists at Johns Hopkins University in Maryland are studying the use of thalidomide as a treatment for Graft vs. Host disease (GVHD). Preliminary studies indicate that it may have beneficial side effects on skin and hair symptoms. The major side effect of thalidomide is sedation, and it causes serious birth defects when given to pregnant women. More research is necessary to determine long-term safety and effectiveness of this treatment for GVHD. Thalidomide is available in England under special license from Penn Pharmaceuticals of Tredegar, South Wales. Scientists at the National Institutes of Health intend to try "gene therapy" on SCID patients with the hope of inserting a gene that manufactures ADA in these patients. The FDA Orphan Products Division awarded a grant in 1988 to Dr. Carol Michele Paradise, M.D., of Cetus Corporation, Emeryville, CA, for her treatment of Severe Combined Immunodeficiency with Interleukin-2. ADA deficient Severe Combined Immune Deficiency has been chosen as the first disease to be treated by "human gene therapy." The National Institutes of Health (NIH) are using the experimental procedure, in combination with the orphan drug PEG-ADA, to enhance the immune system of children with ADA deficient SCID. The procedure involves implanting a gene that makes human ADA into an activated virus. When the virus merges into the patient's cells, it manufactures the human enzyme. The corrected cells will be infused into the patient every few months. Patients interested in participating in this experimental protocol should ask their physicians to contact: Dr. Nelson Wivel Office of Recombinant DNA Activities National Institutes of Health, Bldg. 31, Rm. 4B11 Bethesda, MD 20892 Clinical trials are underway to study patients with genetically-determined immunodeficiency diseases. For infants with Severe Combined Immunodeficiency Disease (SCID), a highly effective new form of therapy is offered. Interested persons may contact: Rebecca H. Buckley, M.D. Box 2898 Duke University Medical Center Durham, NC 27710 (919) 684-2922 to see if further patients are needed for this study. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Severe Combined Immunodeficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Immune Deficiency Foundation 3565 Ellicott Mill Drive, Unit B2 Ellicott City, MD 21043 (800) 296-4433 (410) 461-3127 Dr. M. Hershfield Duke University Hospital Room 418 Sands Bldg. Durham, NC 27710 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References Immunodeficiency. Buckley, R.H.; J Allergy Clin Immunol 1983 Dec; 72(6):627-641. Metabolic Defects in Immunodeficiency Diseases. Webster, A.D.B.; Clin Exp Immunol 1982 Jul; 49(1):1-10. Combined Immunodeficiency and Thymic Abnormalities. Webster, A.D.B.; J Clin Pathol (Suppl) 1979; (13):10-14. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. MuKusick, Johns Hopkins University Press, 1986. Pp. 794, 18. THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al.; eds; McGraw Hill, 1983. Pp. 2354. Severe Combined Immunodeficiency 3pagetitle 77: Severe Combined Immunodeficiency 04215.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 228: Sheehan Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Sheehan Syndrome) is not the name you expected. Please check the SYNONYMS listing the find the alternate names and disorder subdivisions covered by this article. Synonyms Simmond's Disease Postpartum Panhypopituitarism Postpartum Pituitary Necrosis Postpartum Hypopituitarism Postpartum Panhypopituitary Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Sheehan Syndrome is caused by the subnormal pituitary gland functioning (hypopituitarism). The disorder affects females and is caused by necrosis (death of cells) of the anterior pituitary gland secondary to profound blood loss during and after childbirth, with vascular collapse and shock (postpartum collapse). Symptoms The clinical features of Sheehan Syndrome are highly variable and depend on the degree of failure of secretion of pituitary hormones including: 1. prolactin (the hormone which stimulates lactation) 2. gonadotrophin (which regulates the function of the gonads) 3. TSH (which stimulates the thyroid gland) 4. ACTH (adrenocorticotropin) (which stimulates the adrenal cortex) 5. growth hormone (GH). Fully expressed, the condition is associated with failure of lactation after a woman has a baby. Menstruation does not begin again, pubic hair not grow back, and axillary hair slowly disappears. Breasts and genitalia atrophy (diminish in size). The characteristics of hypothyroidism usually develop gradually. A dry, waxy type of swelling (myxedema) may take years or decades to become apparent. Decreased blood sugar level (hypoglycemia), chronic hypotension with fainting and impaired resistance to infection such as of cuts and abrasions are the main problems associated with severe ACTH deficiency. If these symptoms occur, they usually appear within weeks or months after the baby is born. Since Sheehan Syndrome is a disorder affecting adults, the effects of growth hormone deficiency are limited to some loss of muscle strength, mild anemia and increased insulin sensitivity. Causes Sheehan Syndrome is thought to be caused by severe arteriolar spasm (associated with shock) in the vessels supplying the hypothalamic area of the brain from which the stalk of the anterior lobe of the pituitary gland (adenohypophysis) arises. Spasm leads to lack of oxygen in the pituitary (pituitary ischemia) and various degrees of cellular damage depending on the severity and duration of arteriolar spasm. Affected Population Sheehan Syndrome affects women with excessive blood loss and circulatory collapse following childbirth. Therapies: Standard Treatment of Sheehan Syndrome consists of hormone replacement; i.e., ovarian, thyroid, and adrenocortical hormones (ACTH). Since in most cases ACTH deficiency is only partial, continuing cortisol replacement therapy may not be required. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Sheehan Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1022. Sheehan Syndrome pagetitle 228: Sheehan Syndrome 04216.TXT Copyright (C) 1993 National Organization for Rare Disorders, Inc. 938: SHORT Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (SHORT Syndrome) is not the name you expected. PLease check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Growth Retardation-Rieger Anomaly Reiger Anomaly-Growth Retardation Short Stature-Hyperextensibility or Hernia-Ocular Depression-Rieger Anomaly-Teething Delay Information on the following diseases can be found in the Related Disorders section of this report: Lipodystrophies Rieger Syndrome Russell-Silver Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. SHORT Syndrome is a very rare disorder thought to be inherited as an autosomal recessive trait. Individuals affected with this disorder are usually born with a low birth weight. Short stature, and a congenital condition in which there is a loss of fat under the skin (lipoatrophy) of the arms and face are almost always apparent. Other distinguishing symptoms of Short Syndrome are defective development of the anterior chamber of the eye (Riegers Anomaly) and a delay in teething and speech. Symptoms SHORT Syndrome is characterized by a low birth weight, loss of fat under the skin of the arms and face (lipoatrophy), a delay in teething and speech, and a condition in which there is defective development of the anterior chamber of the eye (Rieger Anomaly) that sometimes leads to glaucoma. Short stature, and joints that stretch more than normal (hyperextensibility) are both apparent at an early age. Inguinal hernias (a type of intestinal hernia) are found in most affected individuals. Children with SHORT Syndrome are also prone to frequent infections. Facial characteristics may include sunken eyes, downturned corners of the mouth, a triangular shape to the face, a wide space between the eyes, a wide nasal bridge, an abnormally small jaw and/or ears that protrude outward. Causes SHORT Syndrome is a very rare disorder that is thought to be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population SHORT Syndrome is a very rare disorder. It is thought to affect males more often than females. There have been very few cases of this disorder reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of SHORT Syndrome. Comparisons may be useful for a differential diagnosis: Lipodystrophies are a group of rare metabolic disorders which can be either inherited or acquired. They are characterized by abnormalities in fatty (adipose) tissue. There may be a total or partial loss of body fat, abnormalities of carbohydrate and lipid metabolism, severe resistance to naturally occuring and synthetic insulin, and immune system dysfunction. These disorders are differentiated by degrees of severity, and by areas or systems of the body affected. Lipodystrophies can also be associated with other disorders and various developmental abnormalities. (For more information on this disorder choose "Lipodystrophy" as your search term in the Rare Disease Database). Rieger Syndrome is a rare disorder inherited as an autosomal dominant trait. The main characteristics of this disorder are facial, dental and eye abnormalities. Facial characteristics include a small jaw, broad nasal bridge and/or a protruding lower lip. (For more information on this disorder choose "Rieger Syndrome" as your search term in the Rare Disease Database). Russell-Silver Syndrome is a rare disorder characterized by short stature, a small triangular-shaped face, short arms, and light brown spots on the skin (cafe-au-lait spots). The corners of the mouth turn downward and short incurved fifth fingers are apparent. Intelligence is often normal although in some cases mental retardation may occur. (For more information on this disorder, choose "Russel-Silver Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Patients with SHORT Syndrome should have regular eye exams. When glaucoma is present, drug therapy is used. This usually consists of a topical beta blocker in the form of eye drops. Laser surgery is usually reserved for those patients in whom eye pressure is not relieved by medication. Other treatment is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on SHORTS Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Eye Institute (NEI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Human Growth Foundation 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 (800) 24-DWARF Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Parents of Dwarfed Children 11524 Colt Terr. Silver Spring, MD 20902 Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1 BS England 01-678-2984 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1694-95. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1533-34. SHORT Syndrome !pagetitle 938: SHORT Syndrome 04217.TXT 0Copyright (C) 1991, 1993 National Organization for Rare Disorders, Inc. 853: Shprintzen Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Shprintzen Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Velocardiofacial Syndrome VCF Syndrome Shprintzen VCF Syndrome Information on the following diseases can be found in the Related Disorders section of this report: DiGeorge Syndrome Fetal Alcohol Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Shprintzen Syndrome is a rare disorder in which cleft palate, heart abnormalities, learning disabilities and distinct physical features are all present. This disorder is inherited as an autosomal dominant trait and is the most common syndrome related to cleft palate without cleft lip. Symptoms The symptoms of Shprintzen Syndrome are: 1. Cleft palate - patients with Shprintzen Syndrome have a mild form of cleft palate. The lobe in the middle of the back of the soft palate (uvula) is split and there is a thin union of the two halves of the palate in the middle with a mucous covering on the rear portion of the mouth. The muscles under the soft palate do not fuse together and a notch can be felt where the hard and soft palates meet. This notch replaces the back spine of the palate. (For more information on this disorder choose "Cleft Lip and Cleft Palate" as your search term in the Rare Disease Database). 2. Abnormalities of the heart - the wall that separates the right and left chambers of the heart which receive blood and then force it back into the arteries (ventricular septal) does not form properly; there may be right aortic arch abnormalities; and a congenital abnormality in which there is obstruction in the outflow from the right ventricle of the heart to the lungs, with an enlarged right ventricle and a displaced aorta that receives blood from both the right and left ventricles (Tetralogy of Fallot). (For more information on this disorder choose "Tetralogy of Fallot" as your search term in the Rare Disease Database). 3. Learning disabilities - mild intellectual delay is present in the majority of patients with Shprintzen Syndrome. The average I.Q. scores in high school age children is 69-87. Problems with abstraction, comprehension in reading and math are usually apparent at school age. Mental retardation is less frequent but may also be present with this syndrome. 4. Distinct physical features - loss of muscle tone (hypotonia), small slender stature, tapered hands and fingers, small head circumference (microcephaly), recessed jaw (retrognathia), tubular nose, flat cheeks, long upper jaw, long vertical groove in the middle of the upper lip (philtrum), blue coloring under the eyes, small outer ears, thick outer rims of the ear, two different sized ears and nasal sounding speech secondary to cleft palate may be present. Some (but not all) of the following additional symptoms may be present in patients with Shprintzen Syndrome: 5. An absent or underdeveloped thymus causing a insufficient production of antibodies. 6. Hearing loss 7. Eye abnormalities - small optic discs, clouding of the lens of the eye or it's surrounding membrane obstructing the passage of light (cataract), abnormal smallness of one or both eyeballs (microphthalmia), and twisted vessels in the optic disc. 8. Curvature of the spine (scoliosis). 9. Rupture or protrusion in the groin or central abdominal region (inguinal or umbilical hernia). 10. Failure of the testes to descend into the scrotum in males (cryptorchidism). 11. Deficiency of calcium in the blood (hypocalcemia). 12. Absent or small adenoids. 13. Absent or small tonsils. 14. Newborn children may have obstructed breathing due to the recessed jaw and loss of muscle tone in the throat area. 15. An abundance of hair on the scalp. Causes Shprintzen Syndrome is inherited as an autosomal dominant trait although there have been several sporadic cases reported with unknown causes. Human including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Shprintzen Syndrome affects males and females in equal numbers. Approximately 5-8% of the children born with cleft palate (without cleft lip) have this syndrome. Related Disorders Symptoms of the following disorders can be similar to those of Shprintzen Syndrome. Comparisons may be useful for a differential diagnosis: DiGeorge Syndrome is a complex group of congenital malformations among which is susceptibility to recurrent infections due to a deficient immune system and the occurrence of seizures during infancy due to low levels of calcium in the blood. This disorder results from the impaired development of two of the pharyngeal pouches during early development of the fetus. The parathyroid gland which regulates the concentration of calcium in the blood, and the thymus gland which transforms certain lymphocytes into T-cells, (responsible for cellular and long-term immune reactions), are absent or abnormal in DiGeorge Syndrome. This syndrome is often found in patients with Shprintzen Syndrome. (For more information on this disorder choose "DiGeorge Syndrome as your search term in the Rare Disease Database). Fetal Alcohol Syndrome (FAS) is a combination of birth defects involving both physical and mental impairments. Extensive scientific research into the effects of alcohol (ethanol) on a fetus has established that the use of alcohol during pregnancy poses a serious threat to the health of the unborn child. Fetal Alcohol Syndrome is totally preventable if an expectant mother does not drink alcohol. Symptoms of this disorder may be low birth weight, small head circumference, mental retardation, impaired motor coordination, impaired development of the upper jaw, heart problems and genital defects. (For more information on this disorder choose "Fetal Alcohol Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Shprintzen Syndrome is symptomatic and supportive. When obstructive apnea is present a tube may be placed into the nasal cavity and pharynx (nasopharyngeal tube) to help with breathing. Surgery to make a pharyngeal flap may be performed in order to help eliminate the nasal sound when speaking. This surgery cannot be performed on patients when there is medial displacement of the carotid arteries. Those patients that cannot have the surgery may be fitted with a prosthetic speech device. Cosmetic surgery may be performed on the nose (rhinoplasty), upper and lower jaws of those patients who want to remove the facial characteristics associated with this syndrome. A team approach should be used in making decisions about the treatment of symptoms in patients with Shprintzen Syndrome. A pediatrician, speech pathologist, orthodontist, plastic surgeon and psychologist may all be called in to consult with the parents. Most patients have mild impairments in speech, language development, and math. This becomes apparent after entering school and special class placement or supplementary educational services usually are required. Eventually most patients are mainstreamed and graduate from high school. When congestion is causing the hearing impairment, the placement of tubes in the ears may be beneficial. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Orphan Products: The palate of cleft palate patients is closed during early childhood but difficulties may persist if the palate is excessively short in relation to the pharynx. Researchers are studying a teflon-glycerine paste that is applied to the rear of the pharynx in a minor surgical procedure. A rounder ledge or bump is formed, bringing the pharynx and palate into the proper relationship with each other. The hardened paste remains in place indefinitely; no side effects have been observed. Children as young as eight years old have been treated with this procedure. For further information on this procedure contact: William N. Williams, D.D.S. University of Florida College of Dentistry Box J-424 Gainesville, FL 32610 (904) 392-4370 A clinical database is being developed to help with chromosomal information on VCF patients. A DNA bank is being developed at Albert Einstein College of Medicine. Interested persons may contact: Rosalie Goldberg, Genetic Counselor or Robert J. Shprintzen, PhD., Director Center for Craniofacial Disorders 111 E. 210th St. Bronx, NY 10467 (212) 920-4781 (914) 725-4294 (FAX) This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Shprintzen Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203-746-6518 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Foundation for Facial Reconstruction 550 First Ave. New York, NY 11016 (212) 340-6656 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 National Hearing Association P.O. BOX 8897 Metairie, LA 70011 (504) 888-HEAR NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 914-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 963. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. P. 224. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1744-5. VELO-CARDIO-FACIAL SYNDROME (SHPRINTZEN SYNDROME). R. Domenici, et al.; Pediatr Med Chir (Sept-Oct, 1984, issue 6(5)). Pp. 695-7. DI GEORGE ANOMALY AND VELOCARDIOFACIAL SYNDROME. C.A. Stevens, et al.; Pediatrics (April, 1990, issue 85(4)). Pp. 526-30. ABNORMAL CAROTID ARTERIES IN THE VELOCARDIOFACIAL SYNDROME: A REPORT OF THREE CASES. K. MacKenzie-Stepner, et al.; Plast Reconstr surg (September, 1987, issue 80(3)). Pp. 347-51. Shprintzen Syndrome 1pagetitle 853: Shprintzen Syndrome 04218.TXT Copyright (C) 1986, 1987, 1988, 1990, 1991 , 1992 National Organization for Rare Disorders, Inc. 242: Shy-Drager Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Shy-Drager Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Progressive Autonomic Failure PAF Orthostatic Hypotension Orthostatic Hypotension in Neurological Disease Postural Hypotension Information on the following disease can be found in the Related Disorders section of this report: Parkinson's Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Shy-Drager Syndrome is due to an impairment of the autonomic nervous system. This disorder is primarily characterized by low blood pressure associated with dizziness or momentary blackouts upon standing. Initial symptoms usually include bladder problems, which can become more severe. Sexual impotence may occur in males. Other symptoms resembling those of Parkinson's disease may develop with time. The course of Shy-Drager Syndrome is variable, and some patients may have mild symptoms for up to twenty years. Symptoms The initial symptoms of Shy-Drager Syndrome may be bladder problems and/or sexual impotence in males. The urinary difficulties may become progressively more severe. Dizziness or momentary blackouts often occur as a consequence of low blood pressure that occurs when the patient stands up (orthostatic hypotension). Patients may also experience constipation, and urinary or rectal incontinence. Additionally, dry skin due to loss of the ability to sweat, vision disturbances, and loss of pigment in the iris of the eyes can occur. Symptoms not related to the autonomic nervous system abnormalities may include slowness of movement, unsteady gait, slurred speech, mild tremors, and loss of balance or other symptoms resembling those of Parkinson's disease. (For more information on Parkinson's Disease, choose "Parkinson" as your search term in the Rare Disease Database). In later stages, patients may develop breathing problems such as loud respirations (stridor), or episodes of momentary breathing stoppages during sleep (apnea). Heart beat irregularities may also occur. Chewing, swallowing, speaking and breathing may become increasingly difficult as this disorder progresses. Causes The exact cause of Shy-Drager Syndrome is not known, although scientists believe it may have either environmental or genetic predisposition causes. Symptoms are caused by an impairment of the autonomic nervous system. The autonomic nervous system is involved with autonomous functions essential for our survival such as heart rate, breathing, sweating, intestinal, urinary and sexual functions. It also controls skin and body temperature and how our body responds to stress. Environmental causes are often related to occupational exposure to such toxins as: metal dusts and fumes, plastic monomers and additives, organic solvents, and pesticides. Affected Population Shy-Drager Syndrome affects males twice as often as females. However, the incidence of the syndrome in the general population is not known. According to one study, Shy-Drager Syndrome was incorrectly diagnosed as Parkinson's disease in approximately 1.8 percent of cases of Parkinson's disease patients. Age of onset of this disorder ranges from thirty-seven to seventy-five years, with an average onset at fifty-five years of age. Related Disorders Symptoms of the following disorder can be similar to those of Shy-Drager Syndrome. Comparisons may be useful for a differential diagnosis: Parkinson's disease is a slowly progressive neurological disorder characterized by tremor, muscular rigidity, slowness of movement, balance problems and difficulty in initiating movements. In Parkinson's disease, there are degenerative changes in certain areas of the brain, and a decrease in dopamine levels in neurons associated with these areas. Parkinsonian symptoms, however, may very rarely be secondary to strokes or tumors in the brain. Exposure to certain drugs and toxins may also be associated with symptoms of Parkinson's disease. Parkinson's disease may affect the autonomic nervous system although symptoms are usually milder than those among Shy-Drager Syndrome patients. In some cases, the distinction between these two disorders is hard to determine. The nervous system dysfunction is usually confined to one system in Parkinson's, whereas many systems may be affected by Shy-Drager Syndrome. (For more information on this disorder, choose "Parkinson" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Shy-Drager Syndrome is aimed at controlling symptoms. Antiparkinson medication must be used with caution because it can lower blood pressure, thus causing blackouts. To relieve the low blood pressure, dietary increases of salt and fluid may be beneficial. Elastic stockings may be worn on the legs. Drugs to elevate blood pressure such as corticosteroid derivatives must be carefully monitored by a physician to avoid side-effects. Surgical insertion of an artificial feeding tube (gastrostomy), or an artificial breathing tube (tracheostomy) may be necessary for treatment of breathing and swallowing difficulties. On rare occasions, a pacemaker may be implanted to correct heart irregularities. Therapies: Investigational Researchers are investigating the orphan drug Midodrine as a treatment for Shy-Drager Syndrome. Those interested in participating in clinical research trials can ask their doctor to contact: Roberts Pharmaceuticals Meridian Center III 6 Industrial Way West Eatontown, NJ 07724 (201) 389-1182 The National Institute of Neurological Disorders and Stroke (NINDS) is seeking certain individuals affected by Shy-Drager Syndrome for participation in a clinical research project. For complete information, those interested should have their physicians contact: Ms. Linda Nee, M.S.W. or Dr. Ronald Polinsky NINCDS Medical Neurology Branch Bldg. 10, Rm. 5N236 Bethesda, MD 20892 (301) 496-8850 Clinical trials are underway to study taxonomy and therapy od Orthostatic Hypotension. Interested persons may wish to contact: Dr. Italo Biaggioni AA 3228 MCN Vanderbilt University GCRC Nashville, TN 37232 (615) 343-6499 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Shy-Drager Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Shy-Drager Syndrome Support Group 1607 Silver Ave., S.E. Albuquerque, NM 87106 (505) 243-5118 David Robertson, MD Autonomic Dysfunction Center Vanderbilt University Nashville, TN 37232-2195 (615) 343-6499 International Tremor Foundation 360 West Superior Street Chicago, IL 60610 (312) 664-2344 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1466, 2106-7, 2153. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 407, 1427. Shy-Drager Syndrome !pagetitle 242: Shy-Drager Syndrome 04187.TXT +Copyright (C) 1986, 1989, 1992 National Organization for Rare Disorders, Inc. 251: Rh Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Rh Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Erythroblastosis Fetalis Erythroblastosis Neonatorum Hemolytic Disease of Newborn Hemolytic Anemia of Newborn Congenital Anemia of Newborn Icterus Gravis Neonatorum Hydrops Fetalis Rhesus Incompatibility Rh Incompatibility Rh Factor Incompatibility General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rh disease is an Rh incompatibility between the blood of a mother and fetus. It causes anemia and other more serious conditions. Red blood cells are broken down (hemolysis) because of the incompatibility. Symptoms During the first pregnancy of an Rh-negative woman carrying an Rh-positive fetus, there are rarely any symptoms. However, the risks of sensitization increase with each subsequent pregnancy when the fetus is Rh-positive. In Rh disease, red blood cells from the fetus cross the placenta and enter into the mother's circulation during pregnancy. This stimulates maternal antibody formation against the Rh factor. These antibodies reach the fetus via the placenta and cause destruction of the fetal red blood cells (hemolysis). This consequently causes anemia in the fetus. To overcome this anemia, the fetal bone marrow releases immature red blood cells (erythroblasts) into the fetal circulation. The hemoglobin from the destroyed red blood cells is broken down to bilirubin, which is cleared from the fetal circulation by crossing the placenta into the mother's blood. After birth, however, bilirubin builds up in the newborn's circulation and high levels of bilirubin may sometimes be deposited in the basal ganglia of the brain causing Kernicterus. (For more information, please choose "kernicterus" as your search term in the Rare Disease Database.) In women who have developed Rh-sensitization, succeeding pregnancies with Rh incompatibility produce progressively more seriously affected infants, unless treatment with an anti-Rh-gammaglobulin (RhoGAM) is given to the mother within 72 hours after each childbirth or termination of pregnancy. The more severely affected fetuses develop profound anemia in the womb and are delivered with gross edema (swelling) of the entire body (hydrops fetalis). This may be suspected before delivery if excessive fluid around the fetus in the amnion sac (polyhydramnios) is present (detected through x-rays). Sometimes a picture of the fetus in the uterus (amniogram) reveals severe scalp edema. Newborn infants with Rh disease are extremely pale and may have severe generalized edema, including the presence of liquid in the pleural cavity around the lungs (pleural effusion) and an accumulation of serous fluid in the abdominal cavity (ascites). The liver and spleen are enlarged because of production of red blood cells outside the bone marrow. Congestive heart failure may sometimes occur. Because of anemia and prematurity, lack of oxygen in the lungs (asphyxia) is likely during labor and delivery. The prematurity and asphyxia along with an abnormal decrease of the amount of protein in the blood (hypoproteinemia) may predispose the infant to respiratory distress syndrome (RDS), the signs of which may be difficult to distinguish from those of congestive heart failure. Less severely affected newborn infants may be anemic, but do not have edema or other signs of hydrops. Others may have little or no anemia at birth. Affected infants usually develop severe hyperbilirubinemia shortly after delivery because of the continuing hemolytic effect of Rh-antibodies that have crossed the placenta. Succeeding pregnancies tend to produce more seriously affected fetuses. Erythroblastosis can be prevented by injecting the mother with a high-titer anti-Rh-gammaglobulin preparation within 72 hours after delivery to prevent her from developing antibodies. (For more information, see Therapies: Standard.) Causes Rh incompatibility occurs when a woman with Rh-negative blood conceives a child with Rh-positive blood. Red blood cells from the fetus cross the placenta and enter into the mother's circulation stimulating maternal antibody formation against the Rh factor. These antibodies reach the fetus via the placenta and cause destruction of the fetal red blood cells, consequently causing anemia and bilirubin in the fetal blood (jaundice) which makes the infant appear yellow. Rh-negative and -positive blood types are determined by genetic factors. Affected Population Rh Disease occurs only in infants who have Rh-positive blood and whose mothers have Rh-negative blood. In the U.S. only about 13% of marriages result in pairing of an Rh-positive man and an Rh-negative woman. Only 1:27 children born to these couples will suffer from Rh disease. Related Disorders Kernicterus is a condition characterized by an excess of bilirubin in the blood which is deposited in the basal ganglia of the brain and in the brainstem nuclei. (For more information, choose "Kernicterus" as your search term in the Rare Disease database.) Therapies: Standard An infant with hydrops fetalis or severe erythroblastosis fetalis (without hydrops) due to Rh disease is usually critically ill and should be treated in a perinatal intensive care facility whenever possible. Fetal heart rate should be monitored during labor. If signs of lack of oxygen (asphyxia) occur, or if the infant is severely affected, cesarean section delivery should be performed. The mainstay of treatment is "exchange transfusion." This is a blood transfusion using twice the infant's calculated blood volume which removes 85% of the infant's blood, including circulating antibodies, sensitized red blood cells, accumulated bilirubin, and replenishes red blood cells. In hydrops fetalis, profound anemia should be corrected immediately by giving a partial (1-volume or less) exchange transfusion using packed red blood cells. After the infant's condition stabilizes, a 2-volume exchange transfusion should be performed. In addition, digoxin and diuretics for heart failure, alkali therapy for metabolic acidity of the body tissues (acidosis), and supportive treatment for RDS may be required. When an Rh-negative sensitized woman delivers a less severely ill infant, umbilical cord blood should be examined immediately to determine the infant's blood type, and the direct Coombs' test for the presence of antibodies should be performed. If the infant is Rh-positive and the Coombs' test is positive, the infant's percentage of red blood cell volume in the blood (and reticulocyte count) should be determined. A blood smear should be obtained to check for reticulocytes and red blood cells with nuclei. The bilirubin level in umbilical cord blood should also be determined. Laboratory and clinical evaluations of some infants suggest such a severe rate of hemolysis that exchange transfusion will almost certainly be required in the future. If the infant's condition is stable, an early exchange transfusion removes sensitized red blood cells and antibodies before hemolysis produces large amounts of bilirubin and may avert the need for multiple transfusions at a later time. If an exchange transfusion is not needed immediately, the infant can be monitored, determining both the bilirubin and red blood cell count in the blood (hematocrit). Should bilirubin levels become dangerously elevated or should significant anemia develop, an exchange transfusion is normally indicated. Some sensitized Rh-positive infants do not require an exchange transfusion in the newborn period. However, the hematocrit must be followed serially for several weeks or months as severe anemia may develop because of slow, ongoing hemolysis. Such infants may require a simple transfusion with packed red blood cells at a later time. Erythroblastosis can be prevented by injecting a high-titer anti-Rh-gammaglobulin preparation into the mother within 72 hours after each birth or termination of pregnancy. This preparation prevents the formation of maternal antibodies. During pregnancy of an Rh-negative mother (when the father is Rh-positive), maternal Rh antibody levels should be measured at monthly intervals. If the titers are higher than 1:32 a surgical entry into the abdomen to obtain amniotic fluid (amniocentesis) for measurement of bilirubin concentration in amniotic fluid, should be conducted usually at 2-week intervals. If bilirubin levels are elevated, the fetus can be given blood transfusions inside the uterus at 10-day to 2-week intervals, generally until the 32nd to 34th week of pregnancy at which time delivery may be performed. Therapies: Investigational Clinical trials are underway to study Human Parvovirus Infection and it's sequelae in Iowa and Northwestern Illinois. Interested persons may wish to contact: Stanley J. Naides, M.D. Division of Rheumatology, GH E400 Dept. of Internal Medicine University of Iowa Iowa City, IA 52242 (319) 356-2430 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rh Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. P. 948. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1766, 1875. Rh Disease ,pagetitle 251: Rh Disease 04188.TXT $Copyright (C) 1987, 1988, 1989, 1991 National Organization for Rare Disorders, Inc. 469: Rheumatic Fever _________________________ ** IMPORTANT ** It is possible the main title of the article (Rheumatic Fever) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Acute Rheumatic Fever Rheumatic Arthritis Inflammatory Rheumatism Information on the following disease can be found in the Related Disorders section of this report: Juvenile Rheumatoid Arthritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rheumatic Fever is an inflammatory syndrome that can occur following streptococcal infections of the throat (strep throat). Patients initially experience moderate fever, a general feeling of ill health (malaise), a sore throat, and fatigue. Major complications can include heart disease, joint pain and arthritis, involuntary abrupt limb movements with characteristic grimaces (chorea), and possible skin symptoms. Treatment should begin as soon as possible, and be maintained for months or even years to help control serious complications. Rheumatic fever can be avoided if strep throat is vigorously treated and cured with antibiotics. Symptoms Rheumatic Fever is preceded by a streptococcal throat infection, which may or may not be noticeable as a sore throat. After a latent period of two or three weeks, the patient may develop the initial symptoms of Rheumatic Fever. The most common symptom is arthritis, which may be acutely painful. The knees are most often affected, although several joints may be involved; sometimes the inflammation may shift from joint to joint. The arthritis may completely disappear, even without treatment, usually within six weeks. The most serious problem that can be caused by Rheumatic Fever is rheumatic heart disease. Physicians must carefully monitor the heart throughout the course of the disorder. The membranes lining the heart chambers may be inflamed (endocarditis), the muscle walls of the heart may be inflamed (myocarditis), the membrane surrounding the heart may be inflamed (pericarditis), or any combination of these symptoms may occur. A heart murmur not previously present, enlargement of the heart (cardiomegaly), congestive heart failure, and pericardial friction rubs or leakage of blood from vessels into heart tissue may be signs of Rheumatic Carditis. Inflammation and subsequent scarring of heart valves occurs in patients with this disorder, and can lead to heart function abnormalities. (For more information on this disorder, see "Rheumatic Fever: Down But Not Out" in the Prevalent Health Conditions/Concerns area of NORD Services.) Chorea is a rare complication of Rheumatic Fever consisting of involuntary, abrupt, nonrepetitive limb movements and characteristic grimaces. It typically occurs months after the initial streptococcal infection. Inappropriate crying or laughing, and extreme weakness may also occur. Speech is often halting, jerky, or slurred. These symptoms may disappear within a few weeks or months. Painless, firm, round lumps underneath the skin (subcutaneous nodules) may develop over bones and near joints. The nodules rarely last for more than a month. A skin rash (erythema marginatum) may develop, described as painless, short-term, non-itching, spotted, pink, circular in shape, resembling smoke rings that expand while clearing at the center. This rash is limited to the skin of the trunk and nearby parts of the limbs. It can last for hours or days, and may recur. Arthritis, Carditis, and Chorea are complications of Rheumatic Fever that can occur singly or in combination. Subcutaneous nodules and erythema marginatum are rarely seen without Carditis. Moderate fever, a general feeling of discomfort (malaise), and fatigue usually occur, especially when Carditis is present. Patients may also experience nosebleeds. Causes Although Rheumatic Fever is clearly linked to Group A Streptococcal infections (strep throat), the exact mechanism causing the disorder is not well understood. Strep throat is highly contagious, whereas Rheumatic Fever is not contagious. In the absence of proper treatment, severe complications may occur and progressively severe recurrences of Rheumatic Fever may develop. Affected Population Rheumatic Fever usually affects children between five and fifteen years of age, but may occur among young adults as well. Although outbreaks have steadily declined since the end of World War II in the United States, several outbreaks linked to a particularly virulent strain of Streptococcal infection have occurred. However, throughout this period, this disorder has remained a constant ailment in India, the Middle East and some countries in Africa. Recently a reoccurrence of Rheumatic Fever developed in a number of US states. This time the disease is occurring in suburban and rural areas instead of inner city areas, and, instead of affecting poor Whites and Blacks, the disorder is affecting a white middle-class population. Related Disorders Symptoms of the following disorder can be similar to those of Rheumatic Fever. Comparisons may be useful for a differential diagnosis: Juvenile Rheumatoid Arthritis, also known as Still's Disease or Chronic Polyarthritis, is characterized by progressive pain and tenderness in one or more joints. This disorder, which tends to affect girls more than boys, may begin abruptly with high fever, joint pain, and a variety of skin rashes. Normal growth may be diminished and the spleen and/or liver may become enlarged. The exact cause is not known. Some forms of Arthritis are believed to be autoimmune disorders (the body's natural defenses against invading organisms suddenly begin to attack healthy tissue). Therapies: Standard Timely treatment of the group A streptococcal throat infection (strep throat) which precedes Rheumatic Fever is vitally important to prevent this disorder. Aggressive treatment of strep throat with antibiotics usually guarantees that Rheumatic Fever will not develop. Rarely, there may be no apparent symptoms of strep throat (such as soreness) to warn a parent that a child needs medical care. The subsequent lack of treatment may lead to the development of Rheumatic Fever. When Rheumatic Fever develops, it is treated with anti-inflammatory drugs to help ease the arthritic symptoms. In cases involving the heart, steroid drugs such as prednisone may be helpful. If the heart becomes enlarged (cardiomegaly), corticosteroid drugs may also prove effective to control fever, discomfort, and irregular heartbeat. In extremely severe cases, intravenous methylprednisone followed by oral prednisone may control heart inflammation. Aspirin may be prescribed to control recurrence of inflammation after steroid (prednisone) therapy is discontinued. Continued administration of antibiotics for months or years can also help avoid recurrent acute attacks. Recurrences are most likely during the first three to five years after the initial symptoms of Rheumatic Fever appear. In patients who develop rheumatic heart disease, medication may be continued well into adult life, past the age where a patient is exposed to school age children. Therapies: Investigational Researchers at Rockefeller University, New York City, have identified two monoclonal antibodies that can possibly be used to detect potential Rheumatic Fever patients. However, more research is needed before this screening method can be used more generally as a preliminary step leading go immunization of susceptible persons against strep throat and/or Rheumatic Fever. This disease entry is based upon medical information available through October 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rheumatic Fever, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References RESURGENCE OF ACUTE RHEUMATIC FEVER IN THE INTERMOUNTAIN AREA OF THE UNITED STATES: L.G. Veasy, et al.; N Eng J Med (February 19, 1987, issue 316 (8)). Pp. 421-427. RHEUMATIC FEVER IN THE EIGHTIES: M. Markowitz; Pediatr Clin North Am (October 1986, issue 33(5)). Pp. 1141-1150. RHEUMATIC FEVER: DOWN BUT NOT OUT: Evelyn Zamula; FDA Consumer (July-August 1987). Pp. 26-28. Rheumatic Fever %pagetitle 469: Rheumatic Fever 04189.TXT &Copyright (C) 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 417: Rickets, Hypophosphatemic _________________________ ** IMPORTANT ** It is possible the main title of the article (Hypophosphatemic Rickets) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Familial Hypophosphatemic (Vitamin D-Resistant) Rickets X-Linked Hypophosphatemia X-Linked Vitamin D-Resistant Rickets Hypophosphatemic D-Resistant Rickets I HPDR I Hereditary Type II Hypophosphatemia Hypophosphatemic D-Resistant Rickets II HPDR II Phosphate Diabetes Information on the following diseases can be found in the Related Disorders section of this report: Rickets Pseudovitamin D Deficiency Rickets (Vitamin D-Dependent Rickets, Type I) Osteomalacia Fanconi's Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hypophosphatemic Rickets is a rare genetic form of Rickets characterized by impaired transport of phosphate and diminished Vitamin-D metabolism in the kidneys. Additionally, calcium and phosphate are not absorbed properly in the intestines which can lead to softening of bones. Major symptoms include skeletal changes, weakness and slowed growth. Cases affecting females are usually less severe than those affecting males. One rare acquired form of this disorder may be associated with a benign tumor. Symptoms Symptoms of Hypophosphatemic Rickets are usually first noticed after eighteen months of age. Dental problems may develop such as decay and abscesses or late eruption of teeth. Abnormalities may include softening or thinning of bones, fractures, and/or abnormal bony extensions at the site of muscular attachments. Symptoms such as weakness, intermittent muscle cramps, a "waddling" walk due to abnormalities in the hip joint, pain in the knees, knock knees or bow legs, diminished growth (especially of the legs), and abnormal skull or rib development may also occur. Cases of Hypophosphatemic Rickets may range from mild to severe. Some cases may have no noticeable symptoms while others may be marked by pain and/or stiffness of the back, hips and shoulders possibly limiting mobility. In very rare cases, some hair loss may occur. Causes Hypophosphatemic Rickets is inherited as a dominant X-linked trait. Symptoms are caused by altered metabolism of phosphorus, calcium, and Vitamin-D although the exact mechanism through which this occurs is not well understood. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However the affected male always has a more severe condition. Sometimes affected males die before birth so that only female patients survive.) Affected Population Hypophosphatemic Rickets may affect males and females in equal numbers, although cases affecting males are usually more severe than those affecting females. Related Disorders Several forms of Rickets exist, all of which are characterized primarily by weakening of bones due to abnormal calcium metabolism as well as possible decreases of other substances in the body. Rickets may be either acquired or inherited. Asymptomatic hypophosphatemic adult carriers are almost always females. Symptoms of the following disorders can be similar to Hypophosphatemic Rickets. Comparisons may be useful for a differential diagnosis: Rickets is due to a vitamin-D deficiency resulting in deficient calcification of tissue which normally hardens into bone. This condition can begin at any time of life and may be successfully treated with large doses of vitamin-D. Pseudovitamin D Deficiency Rickets (Vitamin D-Dependent Rickets, Type I) is characterized by more severe skeletal changes and weakness than those of Hypophosphatemic Rickets. This disorder is caused by abnormal vitamin D metabolism and is inherited as an autosomal recessive trait. This type of rickets often begins earlier than Hypophosphatemic Rickets. Blood levels of calcium are severely diminished in patients Vitamin-D Dependent Rickets, although phosphate levels appear normal or only slightly deficient. Amino acids become lost in the urine due to a kidney dysfunction. Intermittent muscle cramps may occur. Convulsions and abnormalities of the spine and pelvis may also develop. Osteomalacia is a disorder characterized by a gradual softening and bending of the bones. Pain may occur in various degrees of severity. Softening occurs because solid bones have failed to form properly (calcify) due to lack of Vitamin-D or a kidney dysfunction. This illness is more common in women than in men, and often begins during pregnancy. It can exist alone or in association with other disorders, such as Hypophosphatemic Rickets. Fanconi's Syndrome is characterized by kidney dysfunction and bone abnormalities similar to those of Hypophosphatemic Rickets. Excess amounts of phosphate, amino acids (usually bicarbonate), glucose, and uric acid are eliminated in the urine. This rare disorder is thought to be inherited through a recessive gene. Bone symptoms include rickets in children and softening of bones (osteomalacia) in adults. Fanconi's Syndrome may be associated with a variety of inherited metabolic disorders such as cystinosis, Lowe's Syndrome, a form of Tyrosinemia, hereditary fructose intolerance, Wilson's Disease, Galactosemia, and a glycogen storage disorder. For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: Fanconi, Lowe, fructose intolerance, cystinosis, Wilson, galactosemia, and glycogen storage. Therapies: Standard Treatment of Hypophosphatemic Rickets consists of increasing phosphate levels as well as vitamin-D. The dosage of vitamin-D is gradually increased until bone healing occurs. This treatment must be carefully monitored to prevent loss of calcium. Vitamin-D alone decreases loss of phosphate through the kidney but does not influence the patient's growth pattern, the level of phosphate absorbed in the intestines, nor the kidney dysfunction. Phosphate alone may improve absorption of calcium and phosphate in the intestines as well as enhance bone healing, but it may not sustain these improvements unless vitamin-D is also prescribed. Recent evidence suggests that long-term calcium plus phosphate supplements may result in better bone mineralization than occurs with vitamin-D plus phosphate therapy. Covering teeth with chrome crowns may be successful in preventing spontaneous abscesses. Genetic counseling may be of benefit for patients and their families. Those rare cases which are caused by tumors rather than heredity can be treated through surgical removal of the tumor. Therapies: Investigational Bone growth abnormalities associated with Hypophosphatemic Rickets can be surgically removed in an attempt to prevent further shortening or deformities of affected arms or legs. More research is necessary before this procedure can be recommended for all but the most severe cases of Hypophosphatemic Rickets. In a study carried out by scientists in Australian children with X-Linked Hypophsatemic Rickets using the enzyme calcitriol (1x, 25 dihydroxyvitamin D3) and phosphate, a slight increase in height was noted along with the development of calcium deposits in the kidneys (nephrocalcinosis). These scientists recommend conservative use of calcitriol nd careful observation of patients to guard against serious kidney damage. Treatment should be discontinued when growth has stopped. This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hypophosphatemic Rickets, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References PROPHYLACTIC DENTAL TREATMENT FOR A PATIENT WITH VITAMIN D-RESISTANT RICKETS: REPORT OF CASE: G. H. Breen; Asdc J Dent Child (Jan.-Feb. 1986, issue 53(1)). Pp. 38-43. EARLY DIAGNOSIS AND EARLY TREATMENT OF HYPOPHOSPHATEMIC VITAMIN D- RESISTANT RICKETS: E. Schaumberger, et al.; Klin Padiatr (Jan.-Feb. 1986, issue 198(1)). Pp. 44-48. TIBIAL BOWING EXACERBATED BY PARTIAL PREMATURE EPIPHYSEAL CLOSURE IN SEX- LINKED HYPOPHOSPHATEMIC RICKETS: W.H. McAlister, et al.; Radiology (February 1987, issue 162(2)). Pp. 461-463. Rickets, Hypophosphatemic 'pagetitle 417: Rickets, Hypophosphatemic 04190.TXT )Copyright (C) 1992 National Organization for Rare Disorders, Inc. 883: Rickets, Vitamin-D Deficiency _________________________ ** IMPORTANT ** It is possible that the main title of the article (Vitamin-D Deficiency Rickets) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivision covered by this article. Synonyms Nutritional Rickets Rickets Vitamin-D Deficiency Rickets Information on the following diseases can be found in the Related Disorders section of this report: Fanconi's Syndrome Infantile Scurvy Lowe's Syndrome Osteomalacia Pseudovitamin D Deficiency Rickets Hypophosphatemic Rickets General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Vitamin-D Deficiency Rickets is a disorder that appears during infancy and childhood. It is caused by insufficient amounts vitamin D in the body. The vitamin deficiency can be caused by poor nutrition, a lack of exposure to the sun, or malabsorption syndromes in which the intestines do not adequately absorb nutrients from foods. Vitamin D is needed for the metabolism of calcium and phosphorus in the body which in turn affects how calcium is deposited in the bones. Without vitamin D the patients bones are not normal. Major symptoms of Vitamin-D Deficiency Rickets include bone disease, restlessness, and slow growth. This disorder is rare in the United States but not uncommon in certain areas of the world. Symptoms Symptoms of Vitamin-D Deficiency Rickets in infants may be restlessness, lack of sleep, slow growth, a delay in crawling, sitting or walking, thinness of the top and back of the skull (craniotabes), swelling of the skull (bossing), bead-like nodules where the ribs and their cartilages join due to the rapid growth of the arms and the rib cage (rachitic rosary), and a delay in the closing of the skull bone. If Vitamin-D Deficiency Rickets is not treated, the ends of the long bones may become enlarged, the legs may become bowed and knock-knees may result. Muscles can become weak and the chest may become deformed due to the pull of the diaphragm on the ribs that have been weakened by rickets (Harrison's groove). Abnormal development and decay of teeth may also occur. In more severe, untreated cases of this disorder the bones may become fragile and fractures may easily occur. Convulsions, muscle twitching and sharp bending of the wrist and ankle joints (tetany spasms) may also be present. Occasionally, when there is too little calcium in the blood due to the lack of vitamin D (hypocalcemia), mental retardation may occur. Causes Vitamin-D Deficiency Rickets can be caused by a lack of vitamin D in the diet, a lack of exposure to the sun, or malabsorption syndromes in which there is an inability of the intestines to adequately absorb nutrients from foods. Nursing mothers who have a diet deficient in vitamin D may get rickets themselves and pass this condition on to the newborn child. In areas of the world where cultural habits limit exposure to sun, or the amount of sun in a day or season is limited, Vitamin-D Deficiency Rickets tends to be more prevalent. Affected Population Vitamin-D Deficiency Rickets affects males and females in equal numbers. Babies of nursing mothers whose diet is deficient in vitamin D can be affected with this disorder. Although Vitamin-D Deficiency Rickets is rare in the United States, children who are dark skinned and living in cloudy northern cities as well as children on restricted diets due to cultural or religious beliefs are more likely to develop this disorder. Rickets is more common in regions of Asia where there is a lack of daylight and/or low intake of meat due to a vegetarian diet. Northern Yemen and Kuwait are also areas where Vitamin-D Deficiency Rickets are prevalent due to lack of exposure to the sun because of cultural practices. Related Disorders Symptoms of the following disorders can be similar to those of Vitamin D Deficiency Rickets. Comparisons may be useful for a differential diagnosis: Fanconi's Syndrome is a rare disorder characterized by kidney dysfunction and bone abnormalities similar to those of Vitamin D Deficiency Rickets. Excess amounts of phosphate, amino acids (usually bicarbonate), glucose, and uric acid are eliminated in the urine. This disorder is thought to be inherited through recessive genes. Bone symptoms include rickets in children and softening of the bones (osteomalacia) in adults. Fanconi's Syndrome may be associated with a variety of inherited metabolic disorders such as cystinosis, Lowe's Syndrome, a form of Tyrosinemia, hereditary fructose intolerance, Wilson's Disease, Galactosemia and glycogen storage disorders. (For more information on this disorder choose "Fanconi" as your search term in the Rare Disease Database). Infantile Scurvy is a disease that is caused by a lack of vitamin C in the diet. Symptoms of this disorder may be anemia, weakness, sores in the mouth, loosening of the teeth, irritability, loss of appetite, failure to gain weight and bleeding under the tissue layer covering the bones. Scurvy is treated with large amounts of vitamin C . Lowe's Syndrome is a rare inherited, metabolic disorder characterized by eye abnormalities such as congenital cataracts and glaucoma, bone malformations caused by vitamin D resistant rickets, mental retardation and impairment of kidney function. This disorder affects only males and is most common in those with fair coloring. Lowe's Syndrome is transmitted through x-linked recessive genes. (For more information on this disorder choose "Lowe" as your search term in the Rare Disease Database). Osteomalacia is a disorder characterized by a gradual softening and bending of the bones. Pain may occur in various degrees of severity. Softening occurs because solid bones have failed to form properly (calcify) due to the lack of vitamin D or a kidney dysfunction. This disorder is more common in females than males, and often begins during pregnancy. It can exist alone or in association with other disorders. Hypophosphatemic Rickets is a rare genetic form of Rickets characterized by impaired transport of phosphate and diminished Vitamin-D metabolism in the kidneys. Calcium and phosphate are not absorbed properly in the intestines which can lead to softening of bones. Major symptoms of this disorder include skeletal changes, weakness and slow growth. Cases affecting females are usually less severe than those affecting males. One rare acquired form of this disorder may be associated with a benign tumor. (For more information on this disorder choose "Hypophosphatemic Rickets" as your search term in the Rare Disease Database). Pseudovitamin D Deficiency Rickets (Vitamin-D Dependent Rickets, Type I) is characterized by more severe skeletal changes and weakness than those of Hypophosphatemic Rickets. This disorder is caused by abnormal vitamin D metabolism and is inherited as an autosomal recessive trait. This type of Rickets often begins earlier than Hypophosphatemic Rickets. Blood levels of calcium are severely diminished in patients with Vitamin-D Dependent Rickets. Amino acids become lost in the urine due to abnormal kidney function. Intermittent muscle cramps may occur. Convulsions and abnormalities of the spine and pelvis may also develop. Therapies: Standard Vitamin-D Deficiency Rickets can be prevented by providing a normal balanced diet to infants and children, assuming that they are exposed to adequate amounts of sun. Treatment of Vitamin D Deficiency Rickets is accomplished with doses of vitamin D given daily until the bone disease is cured. The dose of vitamin D can then be reduced to the daily recommended requirement. In more severe cases of Vitamin D Deficiency Rickets when cramps, convulsions, muscle twitching and sharp bending of the ankle and wrist joints (tetany) is present the treatment with vitamin D is supplemented with calcium salts intravenously. Therapies: Investigational This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Vitamin-D Deficiency Rickets, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, Editor-In-Chief; Little, Brown and Co., 1987. Pp. 2106-12. THE MERCK MANUAL, 15TH ED.: Robert Berkow, Editor-In-Chief; Merck & Co., Inc., 1987. Pp. 924-27. NUTRITIONAL RICKETS: K.W. Feldman, et al.; Am Fam Physicians (November, 1990, issue 42(5)). Pp. 1311-18. HIGH PREVALENCE OF RICKETS IN INFANTS ON MACROBIOTIC DIETS: P.C. Dagnelie, et al.; Am J Clin Nutr (February, 1990, issue 51(2)). Pp. 202-8. NUTRITIONAL RICKETS IN SAN DIEGO: I. Hayward, et al.; Am J Dis Child (October, 1987, issue 141(10)). Pp. 1060-2. VITAMIN D DEFICIENCY RICKETS: D.M. Kruger, et al,; Clin Orthop (November, 1987, issue (224)). Pp. 277-83. PHOTOSYNTHESIS OF VITAMIN D IN THE SKIN: EFFECT OF ENVIRONMENTAL AND LIFE-STYLE VARIABLES: M.F. Holick; Fed Proc (April, 1987, issue 46(5)). Pp. 1876-82. THE IMPORTANCE OF LIMITED EXPOSURE TO ULTRAVIOLET RADIATION AND DIETARY FACTORS IN THE ETIOLOGY OF ASIAN RICKETS: A RISK-FACTOR MODEL: J.B. Henderson, et al,; Q J Med (May, 1987, issue 63(241)). Pp. 413-25. HIGH LEVELS OF CHILDHOOD RICKETS IN RURAL NORTH YEMEN: P. Underwood, et al,; Soc Sci Med (1987, issue 24(1)). Pp. 37-41. VITAMIN-D DEFICIENCY RICKETS IN KUWAIT: THE PREVALENCE OF A PREVENTABLE DISEASE: M.M. Lubani, et al,; Ann Trop Paediatr (September, 1989, issue 9(3)). Pp. 134-9. OSTEOMALACIA OF THE MOTHER--RICKETS OF THE NEWBORN: W. Park, et al,; Eur J Pediatr (May, 1987, issue 146(3)). Pp. 292-3. Rickets, Vitamin-D Deficiency *pagetitle 883: Rickets, Vitamin-D Deficiency 04191.TXT )Copyright (C) 1991 National Organization for Rare Disorders, Inc. 854: Rieger Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Rieger Syndrome) is not the name you expected. PLease check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Goniodysgenesis-hypodontia RGS Iridogoniodysgenesis With Somatic Anomalies Information on the following diseases can be found in the Related Disorders section of this report: Cat-Eye Syndrome Ectodermal Dysplasias Eye, Anterior Segment Dysgenesis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rieger Syndrome is a rare disorder in which there are facial, dental and eye abnormalities. This disorder is inherited as an autosomal dominant trait. The eye abnormalities (referred to as Rieger Eye Malformations) may be present alone, or as a part of Rieger Syndrome. This report will cover Rieger Eye Malformations as well as Rieger Syndrome. Those patients with Rieger Eye Malformations need only refer to the portion of this report pertaining to the eye. Symptoms The main symptoms of Rieger Syndrome are: 1. Rieger Eye Malformations - a small cornea (microcornea), an opaque ring around the outer edge of the cornea, adhesions in the front of the eye, displacement of the pupil of the eye so that it is not centered, and/or an underdeveloped iris. 2. Dental Abnormalities - a congenital condition in which there are fewer teeth than normal (hypodontia); a condition in which a single tooth, pairs of teeth or all the teeth are smaller than normal (microdontia) and/or cone shaped teeth. 3. Facial Abnormalities - underdeveloped bones of the upper jaw (hypoplasia) causing the face to have a flat appearance, a broad flat bridge of the nose and/or a protruding lower lip. The following conditions have been found in some patients with Rieger Syndrome: 4. Anal Stenosis - a small anal opening. 5. Failure of the skin around the navel to decrease in size after birth. This condition has reportedly been mistaken for a umbilical hernia in several cases and unnecessary surgery was performed. 6. Umbilical Hernia - the protrusion of intestine through a weakness in the abdominal wall around the navel. 7. Glaucoma - disease of the eye in which there is increased pressure within the eyeball. This disease can result in damage to the optic disk and gradual loss of vision. The defects in the angle of the eye that is created by the iris and cornea (trabeculum), the vein at the corner of the eye that drains the water in the eye into the bloodstream (schlemm) and the adhesions associated with Rieger Syndrome can lead to glaucoma. The following conditions have sometimes occurred in conjunction with Rieger Syndrome but researchers cannot agree as to whether they are separate entities in which the Rieger Eye Malformations are present. 1. Myotonic Dystrophy - a chronic progressive disease that causes atrophy of the muscles, failing vision, slurred speech, droopy eyelids and general muscle weakness. (For more information on this disorder choose "Myotonic Dystrophy" as your search term in the Rare Disease Database). 2. Conductive Deafness - a type of hearing loss in which sound does not travel well to the sound organs of the inner ear. 3. Myotonia - a condition in which the muscles do not relax after contracting. 4. Mental Retardation - less than average intellectual function with problems in learning and social behavior. Causes Rieger Syndrome is inherited as an autosomal dominant trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Rieger Syndrome is a rare disorder that affects males and females in equal numbers. This disorder can be detected during the first month of life when the eye defects are visible. When the eye defects are not visible during the first month of life, the disorder is usually detected in early childhood when the eye and dental defects become apparent. Related Disorders Symptoms of the following disorders can be similar to those of Rieger Syndrome Comparisons may be useful for a differential diagnosis: Cat-Eye Syndrome is a rare disorder in which there is a cleft along the eyeball affecting the iris, the membrane that covers the white of the eyeball (choroid), and/or the retina causing a vertical pupil; small growths or polyps, pits and abnormal passages near the front of the outer ear; and absence of the opening, duct or canal of the anus. Other symptoms of this disorder that may be present in some patients are: mild mental deficiency, heart defects such as tetralogy of Fallot ( lung narrowing, a defect in the wall of the lower chamber of the heart, a defect in the position of the aorta and enlargement of the right ventricle) and an abnormality of the large blood vessels that return blood from the lungs to the heart. There may also be an abnormally wide space between the eyes, and absence of a kidney on one side. This disorder may be inherited as an autosomal dominant trait or its genetic transmission may be unknown in many cases. Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, its derivatives, and some other organs are involved. A predisposition to respiratory infections, due to a somewhat depressed immune system and to defective mucous glands in parts of the respiratory tract, is the most life threatening characteristic of this group of disorders. Symptoms include eczema, poorly functioning sweat glands, sparse or absent hair follicles, abnormal hair, disfigured nails, and difficulties with the nasal passages and ear canals. Skin is satiny smooth, prone to rashes, and slow to heal. (For more information on this disorder choose "Ectodermal Dysplasia" as your search term in the Rare Disease Database). Eye, Anterior Segment Dysgenesis is a rare congenital disorder in which there is abnormal tissue development of the outer eye segment or, in less severe cases, the back of the outer surface of the cornea is nontransparent (embryotoxin). This disorder may cause glaucoma, cataracts, partial or total dislocation of the lenses, atrophy of the eyeball, or a lack of transparency of the cornea. Malformations of the teeth, abdominal wall, skeleton, and heart may also be associated with this disorder. Peter's plus (a condition that consists of short stature, mental retardation, abnormal ears, and clefting of the palate and/or lip) is another condition that is sometimes associated with Eye, Anterior Segment Dysgenesis. An autosomal dominant inheritance is found in many cases of Eye, Anterior Segment Dysgenesis even though the disorder can vary greatly from one member of a family to another. When Peter's plus is present an autosomal recessive inheritance is the form of transmission. Therapies: Standard Treatment of Rieger Syndrome is symptomatic and supportive. Drug therapy is the primary treatment for glaucoma, usually consisting of a topical beta blocker in the form of eye drops. Laser surgery is usually reserved for those patients in which the pressure in the eye is not relieved by medications. Prostheses (false teeth) are used for dental malformations. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rieger Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203-746-6518 National Foundation for Ectodermal Dysplasia 219 E. Main Street Mascoutah, IL 62258 (618) 566-2020 Vision Foundation, Inc. 818 Mt. Auburn Street Watertown, MA 02172 (617) 926-4232 National Association for Parents of the Visually Impaired, Inc. P.O. Box 180806 Austin, TX 78718 (512) 459-6651 National Association for the Visually Handicapped 22 W. 21st Street, Sixth Floor New York, New York 10010 (212) 889-3141 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 301-496-5248 For Genetic Information and Genetic Counseling Referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 914-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 843-44. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 532-33. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1497. DIAGNOSTIC RECOGNITION OF GENETIC DISEASE, William Nyhan, et al.; Lea & Febiger, 1987. Pp. 226-27. THE RIEGER SYNDROME AND A CHROMOSOME 13 DELETION: R.A. Stathacopoulos, et al.; J Pediatr Opthalmol Strabismus (Jul-Aug 1987, issue 24 (4)). Pp.198-203. BONE AND JOINT MANIFESTATIONS OF RIEGER SYNDROME: A REPORT OF A FAMILY: T. Koshino, et al.; J Pediatr Orthop (Mar-Apr 1989, issue 9(2)). Pp. 2240-30. Rieger Syndrome *pagetitle 854: Rieger Syndrome 04192.TXT Copyright (C) 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 692: Robert's Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Robert's Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Pseudothalidomide Syndrome Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome SC Syndrome DISORDER SUBDIVISIONS: Phocomelia Information on the following diseases can be found in the Related Disorders section of this report: Thrombocytopenia-Absent Radius (TAR) Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Robert's Syndrome is a very rare genetic disorder characterized by severe defects in facial and limb development. Infants with this disorder show a growth deficiency and are usually mentally retarded. Symptoms Individuals with Robert's Syndrome are frequently missing bones in the limbs. The bones that are present are often extremely short, with the feet and arms located close to the trunk (phocomelia). Other symptoms of Robert's Syndrome include a small, broad head (microbrachiocephaly); sparse, silvery hair; low birth weight; growth deficiency; cleft lip with or without cleft palate; widely spaced eyes (hypertelorism); malformed ears; an abnormally small jaw (micrognathia) and undescended testes. Less common symptoms include brain hernia, an abnormal increase in brain fluid resulting in enlargement of the skull (hydrocephaly), unusually small eyes, cataracts, clouding of the cornea, malformed kidneys, heart defects and decreased blood platelets (thrombocytopenia). Causes Robert's Syndrome is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Robert's Syndrome affects males and females in equal numbers. Related Disorders Disorder Subdivisions: Phocomelia is a birth defect that may be genetically transmitted in some cases, or in other cases, caused by toxins (such as certain drugs) taken by a pregnant woman. Major symptoms may include growth and mental retardation, defects in the eyes, ears, and nose, and deficient limb developing affecting the arms and possibly the legs. There have been a number of patients exhibiting overlap of symptoms between Robert's Syndrome and the genetic form of Phocomelia. The two disorders may be different expressions of a gene or represent variable severity of the same disorder. (For more information on this disorder, choose "Phocomelia" as your search term in the Rare Disease Database. Symptoms of the following disorders can be similar to those of Robert's Syndrome. Comparisons may be useful for a differential diagnosis: There are many birth defects which can cause malformed or missing limbs. One of these is Thrombocytopenia-Absent Radius (TAR) Syndrome. TAR Syndrome is a genetic disorder characterized by a very low level of the number of platelets in the blood (thrombocytopenia) and the absence or underdevelopment of one of the short bones (radius) in the arm. Thrombocytopenia may cause excessive bleeding from the skin, mucous membranes (thin most layer lining the body's cavity), or within the skull. Other blood disorders may also occur. The underdevelopment of the other short bone (ulna) of the arm, and defects of the hands, legs, and/or feet may also occur. (For more information on this disorder, choose "TAR" as your search term in the Rare Disease Database.) Therapies: Standard Individuals with Robert's Syndrome may benefit from surgery for facial and limb defects. Prosthetic devices can also reduce problems associated with missing limbs. Genetic counseling may be of benefit for Robert's Syndrome patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Dr. Uta Francke of the Stanford University School of Medicine is conducting a study of Robert's Syndrome and is in need of more patients, their brothers and sisters who do not show symptoms of the syndrome, and their parents to participate in the study. If you are interested, please contact: Dr. Uta Francke Howard Hughes Medical Institute Stanford University School of Medicine Beckman Center B205 Stanford, CA 94305 (415) 725-8089 This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Robert's Syndrome, please contact; National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 Association of Children's Prosthetic and Orthotic Clinics (ACPOC) 317 E. 34th St. New York, NY 10016 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Craniofacial Foundation 3100 Carlisle Street Dallas, TX 75204 1-800-535-3643 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1174. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth Lyons Jones, M.D.; W. B. Saunders Company, 1988. Pp. 256-257. Robert's Syndrome % pagetitle 692: Robert's Syndrome 04193.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 696: Robinow Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Robinow Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Robinow Dwarfing Syndrome Fetal Face Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Aarskog Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Robinow Syndrome is a very rare genetic disorder that is characterized by physical deformities, broad facial features and genital abnormalities. Symptoms Robinow Syndrome is a genetic disorder that is characterized by shortened fingers, toes and forearms, and moderately short stature. There may also be an enlarged head and forehead with widely spaced and prominent eyes (hypertelorism), a broad, short, upturned nose, triangular shaped mouth with a cleft lower lip, a small jaw and crowded teeth. Incomplete development of the spinal column also occurs. In males with this disorder there may be a small or absent penis, undescended testicles (cryptorchidism), while in females there may be a small clitoris and labia. Occasionally there may also be seizures, navel and inguinal hernias, cleft lip or palate and difficulties with speech and walking. Causes The exact cause of Robinow Syndrome is unknown. It is believed to be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Robinow Syndrome is a very rare disorder which affects males and females in equal numbers. Related Disorders Symptoms of the following disorder can be similar to those of Robinow Syndrome. Comparisons may be useful for a differential diagnosis: Aarskog Syndrome is a very rare genetic disorder marked by distinctive structural abnormalities. Major symptoms may include stunted growth, broad facial features, short broad hands and feet, genital abnormalities and mild mental retardation. (For more information on this disorder, choose "Aarskog" as your search term in the Rare Disease Database). Therapies: Standard Treatment for Robinow Syndrome may include surgery to correct hernias, cleft lip and palate, and undescended testicles. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Robinow Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 665. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4TH ed.: Kenneth L. Jones, M.D.; W.B. Saunders Co., 1988. Pp. 112. ROBINOW SYNDROME: REPORT OF TWO PATIENTS AND REVIEW OF LITERATURE. M. Butler et al.; CLIN GENET (February 1987; issue 31 (2)). Pp. 77-85. CRANIOFACIAL PATTERN SIMILARITIES AND ADDITIONAL OROFACIAL FINDINGS IN SIBLINGS WITH ROBINOW SYNDROME. H. Israel et al.; J CRANIOFAC GENET DEV BIOL (1988; issue 8 (1)). Pp. 63-73. Robinow Syndrome pagetitle 696: Robinow Syndrome 04194.TXT ?y?Copyright (C) 1989 National Organization for Rare Disorders, Inc. 600: Rocky Mountain Spotted Fever _________________________ ** IMPORTANT ** It is possible that the main title of the article (Rocky Mountain Spotted Fever) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Black Fever Blue Fever Mexican Spotted Fever Sao Paulo Fever Tobia Fever Blue Disease Black Measles Information on the following diseases can be found in the Related Disorders section of this report: Measles Meningococcemia Rubella Schonlein-Henoch Purpura Thrombotic Thrombocytopenic Purpura Typhus Typhoid Fever Q Fever Boutonneuse Fever Colorado Tick Fever North Queensland Tick Fever South African Tick-bite Fever Israeli Rickettsial Spotted Fever General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rocky Mountain Spotted Fever is an acute infectious disorder. This disorder is transmitted to humans through the bite of an infected tick, usually in wooded areas of the midwest, eastern and southeastern U.S. The illness can occur in other areas of the world where ticks are infected with the rickettsial parasite. Fever, rash and gastrointestinal problems are among major symptoms. Early diagnosis and treatment are vital in avoiding serious complications of this disease. Symptoms Rocky Mountain Spotted Fever begins with an incubation period of from two to twelve days. A gradually or abruptly beginning fever may be followed after three to five days by a pink or purplish colored rash on the wrists and ankles. The fever and rash usually become more severe for seven to fourteen days. The rash may not develop in all cases, possibly making diagnosis difficult. A blood test is necessary to confirm the diagnosis. In other cases, the rash may become widespread or develop into small bleeding spots (petechiae, ecchymoses, or purpura) under the skin after about five days of illness. Swelling (edema), headache, chills, weakness and muscle pains may also occur. Eye infections (conjunctivitis) or light-sensitivity (photophobia) may be present. Skin deterioration or gangrene in the extremities may develop. Gastrointestinal symptoms such as nausea, vomiting, diarrhea and/or abdominal pain occurs in approximately two thirds of patients early in the course of the disorder. Blood vessels, air vesicles (alveoli) and interstitial tissue in the lungs often become infiltrated by the rickettsial parasite which causes coughing and swelling (edema) in severe cases. Severe headaches, lethargy, confusion, delirium, focal neurological deficits, increased intracranial pressure leading to pressure on the optic disk (papilledema), seizures and/or coma may occur in untreated cases as the nervous system is progressively affected. Some patients may have a stiffened neck due to muscle pain (myalgia) or irritation of membranes surrounding the brain and spinal cord tissue (meningismus). As the untreated disease progresses, widespread swelling (edema) develops in many patients because of leakage of blood plasma from damaged blood vessels (vasculitis). Kidney failure occurs in approximately fifteen percent of patients due to diminished total quantity of blood in the circulation (hypovolemia or oligemia). Causes Rocky Mountain Spotted Fever is caused by the bacteria known as Rickettsia rickettsii which is transmitted to humans through the bite of infected ticks. These ticks must be attached to the body for many hours in order to transmit the infection. Infected rodents can be hosts that transmit this disorder to humans, but this is very seldom the case. Symptoms arise when the rickettsial parasites spread via the blood stream. The parasites multiply in large numbers and damage blood vessels causing leakage, swelling (edema), and diminished total quantity of blood in circulation which can lead to kidney failure. Any organ in the body can be affected, most notably the skin, lungs and/or brain. Affected Population Rocky Mountain Spotted Fever characteristically occurs in outbreaks in various areas of the Midwest, East and Southeastern United States. Statistically, young people between the ages of ten and twenty residing in suburban or rural areas are most often affected during the early spring through fall months. Outbreaks have occurred in Long Island, New York and four cases were identified recently in New York City. Cabarus and Rowan counties in North Carolina have reported epidemic numbers of cases as have Georgia, Arkansas, Oklahoma and Texas. The western mountain region of the United States, for which the disease was named in 1906, currently reports very few cases. A total of 4,141 cases were reported to the Centers for Disease Control (CDC) in Atlanta, GA, between the years of 1981-1984. By law, all cases of Rocky Mountain Spotted Fever must be reported to the CDC. (For the address of the CDC, please see the Resources section of this report.) Related Disorders Symptoms of the following disorders can be similar to those of Rocky Mountain Spotted Fever. Comparisons may be useful for a differential diagnosis: Lyme Disease is a tick-transmitted inflammatory disorder characterized by an early focal skin lesion, and subsequently a growing red area on the skin (erythema chronicum migrans or ECM). The disorder may be followed weeks later by neurological, heart or joint abnormalities. (For more information on this disorder, choose "Lyme" as your search term in the Rare Disease Database). Measles is a highly contagious disease occurring primarily in children. This disease is characterized by fever, cough, acute nasal mucous membrane discharge (coryza), inflammation of the lining of the eyelids (conjunctivitis), a spreading rash, and eruption of small, irregular, bright red spots (Koplik's spots) on the inner cheeks in the mouth with a minute bluish or white speck in the center of each. Vaccination can prevent measles in children. (For more information on this disorder, choose "Measles" as your search term in the Rare Disease Database). Meningococcemia is an infectious disorder which begins abruptly with a sparse rash on the wrists, underarms (axillae), flanks and ankles. The rash may be preceded by mottled redness of the skin resembling discoloration typical of Typhoid Fever. Chills, joint and muscle pains (especially of the back and legs), tenderness of the soles of the feet, headache, sore throat, vomiting, diarrhea, and severe weakness may also occur. Skin spots may spread and join to form large areas, and may affect the palms of the hands and soles of the feet. Rubella is a contagious viral disease characterized by swelling of lymph glands and a rash. If a pregnant woman becomes infected with Rubella during the early months of pregnancy, a spontaneous abortion, stillbirth, or fetal abnormalities may result. The rash may resemble that of Measles and occurs after a fourteen to twenty-one day incubation period and a one to five day preliminary phase in children. The rash begins on the face and neck and quickly spreads to the trunk and extremities. At the onset of the eruption, a reddening similar to that of scarlet fever may appear. A slight fever usually accompanies the rash. Headache, loss of appetite, sore throat, and general discomfort (malaise) are more common in affected adults and teenagers than children. The disease can be prevented through vaccination. (For more information on this disorder, choose "Rubella" as your search term in the Rare Disease Database). Schonlein-Henoch Purpura is one of a group of blood vessel disorders characterized by purplish or brownish-red discolorations on the skin. These spots may be large or small. Internal bleeding may occur in various areas of the body. This disorder may affect the skin, joints, gastrointestinal system, kidneys, and in a very few cases, the central nervous system. Little is known about the cause of this form of purpura although it may be an allergic reaction which more often occurs in children than in adults. Some cases of Schoenlein-Henoch are characterized by joint disease without gastrointestinal problems and are termed Schoenlein's Purpura. Another form characterized by acute abdominal symptoms but without joint disease is known as Henoch's Purpura. This disorder runs a limited course with a good prognosis in most cases. (For more information on this disorder, choose "Schonlein" as your search term in the Rare Disease Database). Thrombotic Thrombocytopenic Purpura (also known as TTP or Moschowitz Disease) is a very severe disease of unknown cause. In addition to discolored bleeding spots under the skin (purpura), signs of central nervous system involvement can occur. This is due to abnormal formation of filamented strands of protein (fibrin) or blood clots (thromboses) in the arterioles and/or capillaries in many organs of the body. Fever, hemolytic anemia, and excess urea in the blood (azotemia) also may occur. For more information on this disease, choose "TTP" as your search term in the Rare Disease Database.) Q Fever is an infectious disease caused by a rickettisial organism (Coxiella burnettii) first identified in Queensland, Australia in 1935, which also occurs in the U.S. Symptoms do not include damage to blood vessel cells typical of Rocky Mountain Spotted Fever. Fever, pneumonia, granulomatous hepatitis, and occasionally vegetative inflammation of the membrane lining the heart (endocarditis) occurs. This disorder may be transmitted by a tick bite, but is most often acquired by farm workers or meat handlers who inhale the organism from infected meat products or livestock. Sheep, goats or cattle may carry the infection without symptoms. (For more information on this disorder, choose "Q Fever" as your search term in the Rare Disease Database. Boutonneuse Fever is a rickettsial infection usually transmitted by inhalation rather than by insects. This disorder is characterized by a sloughing of skin (eschar) at the site of a bite by an Ixodes tick, with an associated disease of the lymph nodes (lymphadenopathy) in approximately fifty percent of diagnosed cases. It is followed a few days later by fever and generalized rash. This fever occurs most often in Africa, Asia, and in the Mediterranean basin. Colorado Tick Fever is a viral infection transmitted by ticks prevalent in the western United States. Fever, headaches, muscle aches, and generalized discomfort characterize the illness, which resolves spontaneously. Onset occurs abruptly approximately five days after a tick bite, which usually occurs at moderate altitudes during spring or early summer. Flu-like symptoms may include chills, headache, increased sensitivity to light, muscle pains (especially in the back), fatigue, nausea, vomiting and lack of appetite. A slight reddish rash appears, and the spleen can become enlarged. Fever may rise sharply and require treatment. (For more information on this disorder, choose "Colorado Tick Fever" as your search term in the Rare Disease Database). North Queensland Tick Fever is a mild form of tick typhus. It is caused by the rickettsial parasite Rickettsia australis and is thought to be transmitted by the Ixodes holocyclus tick. Sloughing of skin (eschar) at the site of the tick bite, lymph node disease (adenopathy), rash and fever occur. South African Tick-bite Fever is a typhus-like fever of the South African area bounded by Capetown, Southern Rhodesia, and Mozambique. This disorder is usually characterized primarily by sloughing of skin (eschar) at the site of the tick bite, regional lymph node inflammation (adenitis), sudden chills with severe shivering (rigors), and a rash on the fifth day, often with severe central nervous system symptoms. Israeli Rickettsial Spotted Fever is less severe than Rocky Mountain Spotted Fever because typical complications may not occur. Fever, rash on the palms of the hands and soles of the feet which may extend to the torso, muscle pain (myalgia), headache, enlarged spleen and liver occur in this disorder. Laboratory testing may reveal a left shift in the white cells, an abnormally low number of white blood cells in circulation (leucopenia), a reduction in the number of platelets in the blood, and/or impaired liver function. Enteroviral Infections, Hemorrhagic Fever Viruses, disseminated Gonococcal infections, Staphylococcal Septicemia, or Pseudomonas Septicemia are other conditions which may be mistaken for Rocky Mountain Spotted Fever. Early diagnosis and treatment are vital to avoid complications in this disorder. Therapies: Standard There is no vaccination to protect people from Rocky Mountain Spotted Fever. Public awareness of the signs and symptoms are very important. The only effective preventive measure is to search the body and remove ticks several times daily when ticks are active. This is because the tick has to be attached to the body for many hours to transmit the infection. The scalp, underarms and pubic regions of the body should be given special attention. Insect repellents can protect against tick bites, and should be used in infested areas. If the diagnosis is not clear, a blood test may be recommended to confirm the presence of Rocky Mountain Spotted Fever. According to the Centers for Disease Control (CDC), the most effective tests for the diagnosis of this disorder include the Indirect Fluorescent Antibody (IFA) test and the Indirect Hemagglutination (IHA) test. The antibiotic drug chloramphenicol is often recommended for children under the age of eight, whereas tetracycline hydrochloride may be more effective for older children or adults. Therapies: Investigational Scientists are currently studying a vaccine for Rocky Mountain Spotted Fever involving cloned genetic products. More research is necessary to determine long-term effectiveness of this proposed vaccine. This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rocky Mountain Spotted Fever, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy & Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Rd. NE Atlanta, GA 30333 (404) 639-3534 References ROCKY MOUNTAIN SPOTTED FEVER PRESENTING AS THROMBOTIC THROMBOCYTOPENIC PURPURA: R.C. Turner, et al.; Am J Med (July 1986, issue 81 (1)). Pp. 153-157. ROCKY MOUNTAIN SPOTTED FEVER: C.A. Kamper, et al.; Clin Pharm (February 1988, issue 7 (2)). Pp. 109-116. STAPHYLOCOCCUS AUREUS SEPTICEMIA MIMICKING FULMINANT ROCKY MOUNTAIN SPOTTED FEVER: M.R. Milunski, et al.; Am J Med (October 1987, issue 83 (4)). Pp. 801-803. THE SENSITIVITY OF VARIOUS SEROLOGIC TESTS IN THE DIAGNOSIS OF ROCKY MOUNTAIN SPOTTED FEVER: J.E. Kaplan, et al.; Am J Trop Med Hyg (July 1986, issue 35 (4)). Pp. 840-844. CLONED GENE OF RICKETTSIA RICKETTSII SURFACE ANTIGEN: CANDIDATE VACCINE FOR ROCKY MOUNTAIN SPOTTED FEVER: G.A. McDonald, et al.; Science (January 2, 1987, issue 235 (4784)). Pp. 83-85. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1629-1634. Rocky Mountain Spotted Fever @pagetitle 600: Rocky Mountain Spotted Fever 04195.TXT Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 407: Romano-Ward Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Romano-Ward Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms QT Prolongation without Congenital Deafness QT Prolongation with Extracellular Hypokalemia Surdocardiac Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Jervell and Lange-Nielsen Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Romano-Ward Syndrome is a genetic heart disorder. Symptoms usually begin during infancy or early childhood, although onset during adulthood is possible. Recurrent symptoms such as fainting, convulsive seizures and/or heart beat irregularities with chest pain may occur. Physical exertion, excitement or stress may trigger onset of symptoms. Symptoms Unexpected partial or total loss of consciousness accompanied by abnormal heart rhythms, associated with long Q-T intervals, are usually the first noticeable symptoms of Romano-Ward Syndrome. These symptoms tend to recur unexpectedly. The normal duration of one phase of electrical activity in the ventricles of the heart is referred to as the Q-T interval. When this interval is longer than normal, the heart beat may become slowed or beat with an irregular rhythm. Overexertion, excitement or stress may trigger these recurrent symptoms, although they often begin without any precipitating factors. The severity of attacks may vary. Some people may have a prolonged Q-T interval and/or mild chest pain with no loss of consciousness. Others may lose consciousness completely or have grand mal seizures followed by a period of disorientation. Lowered potassium levels in the blood may also be symptomatic of Romano-Ward Syndrome. This deficiency may be linked to the heart beat irregularities. Causes Romano-Ward Syndrome is thought to be inherited as an autosomal dominant trait with variable penetrance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Variable penetrance means that characteristics or symptoms of a particular disorder may not be manifested in all those who inherit the defective gene.) Affected Population Only approximately 155 cases of Romano-Ward Syndrome have been reported in the medical literature during this century. This extremely rare disorder appears to affect males and females in equal numbers. Related Disorders Symptoms of the following disorder can be similar to Romano-Ward Syndrome. Comparison may be useful for a differential diagnosis: Jervell and Lange-Nielsen Syndrome is characterized by loss of consciousness due to heart beat irregularities and is inherited as an autosomal recessive trait. Deafness, which is symptomatic of this disorder, does not occur in Romano-Ward Syndrome. Therapies: Standard In most cases, Romano-Ward Syndrome is treated with the drug propranolol. Surgical removal of certain nerves going to the heart, or a combination of surgical and drug therapy may help control heart beat abnormalities. Raising blood levels of potassium can also improve some symptoms. Genetic counseling may be of benefit to patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Treatment of Romano-Ward Syndrome with an implantable automatic cardioverter-defibrillator is being investigated in conjunction with antiarrythmic drug therapy. This device detects the abnormal heart beat automatically and selectively delivers an electrical impulse to the heart. Another implantable device, the QT-sensitive cybernetic pacemaker, is also being tested. This unit may be able to monitor heart rhythm and detect development of severe heart beat irregularities. Effectiveness and side effects of these implanted devices have not been fully documented and more extensive research is being pursued before their therapeutic value for Romano-Ward Syndrome can be evaluated. This disease entry is based upon medical information available through July 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Romano-Ward Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 730 Greenville Avenue Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References PROLONGED Q-T SYNDROME (ROMANO-WARD SYNDROME). DESCRIPTION OF A CASE DIAGNOSED IN INFANCY: V. Meschi, et al.; Pediatr Med Chir (Jan.-Feb. 1985, issue 7(1)). Pp. 131-136. MANAGEMENT OF THE PROLONGED QT SYNDROME AND RECURRENT VENTRICULAR FIBRILLATION WITH AN IMPLANTABLE AUTOMATIC CARDIOVERTERDEFIBRILLATOR: E.V. Platia, et al.; Clin Cardiol (September 1985, issue 8(9)). Pp. 490-493. THE QT-SENSITIVE CYBERNETIC PACEMAKER: A NEW ROLE FOR AN OLD PARAMETER? P. E. Puddu, et al.; Pace (January 1986, issue 9(1 pt 1)). Pp. 108-123. Romano-Ward Syndromec pagetitle 407: Romano-Ward Syndrome 04196.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 595: Roseola Infantum _________________________ ** IMPORTANT ** It is possible that the main title of this article (Roseola Infantum) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Exanthem Subitum Pseudorubella Sixth Disease Information on the following disorders can be found in the Related Disorders section of this report: Atypical Measles Syndrome (AMS) Measles (Rubeola) Rubella (German Measles) Scarlet Fever General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Roseola Infantum is an acute infectious disorder of infants or very young children. Characterized by high fever and the appearance of a red skin rash, this disorder may resemble Rubella after the fever has disappeared. Seizures may also occur. Symptoms The incubation period before symptoms of Roseola Infantum appear is approximately 5 to 15 days. A high fever begins abruptly and usually lasts for 3 or 4 days without an obvious identifiable cause. Convulsions are common during this period. Low levels of white blood cells (leukopenia) may occur by the 3rd day. The spleen may be slightly enlarged. The fever usually breaks on the 4th day, and a characteristic rash of red spots or elevated (macular or maculopapular) spots appears. This rash may cover the chest and abdomen, although it often appears in a mild form on the face and extremities. Temperature returns to normal at this stage, and the child usually feels and acts well. In some cases, the rash may be so mild that it goes unnoticed. Causes Roseola Infantum is caused by a viral infection related to the Herpes group of viruses. Affected Population Roseola Infantum usually affects children between 1 and 3 years of age. The disorder tends to occur most often in the spring and fall seasons. Minor epidemics in certain geographic areas have been reported. Related Disorders Symptoms of the following disorders can be similar to those of Roseola Infantum. Comparisons may be useful for a differential diagnosis: Atypical Measles Syndrome (AMS) is most common among adolescents and young adults. This disorder was usually associated with prior immunization using the outdated killed measles vaccines, which are no longer in use. However, inoculation with live measles vaccine has also been known to precede development of AMS. Presumably, inactivated measles virus vaccines do not prevent mild virus infection and can sensitize patients so that disease expression is altered significantly. AMS may begin abruptly, with high fever, headache, abdominal pain, and coughing. The rash may appear one to two days after onset, often beginning on the extremities. Swelling (edema) of the hands and feet may occur. Pneumonia is not uncommon, and nodular dense areas in the lungs may persist for three months or longer. Measles (Rubeola; Morbilli) is a highly contagious viral disease occurring primarily in children. The disease is characterized by fever, cough, acute nasal membrane discharge (coryza), inflammation of the lining of the eyelids (conjunctivitis), and eruption of small, irregular, bright red spots with a minute bluish or white speck in the center (Koplik's spots) on the inner cheeks or lips and a rash of elevated spots (maculopapular) spreading over the skin. Measles has become rare in the United States since the introduction of Measles vaccines. (For more information, use "Measles" as your search term in the Rare Disease Database.) Rubella (German Measles) in children is a mild contagious viral disease characterized by swelling of lymph glands and a rash beginning on the face and neck which quickly spreads to the trunk and the extremities. If a woman contracts Rubella during the early months of pregnancy, a spontaneous abortion, stillbirth, or birth defects in the infant may result. (For more information, choose "Rubella" as your search term in the Rare Disease Database.) Scarlet Fever is an infection caused by bacteria that usually affects the mouth/throat area (pharynx), but may also affect the skin or birth canal. Patients may experience headache, abdominal pain, nausea, and a skin rash. A reddish flush may be apparent on the face, chest and extremities, accompanied by tiny red spots in some cases. The disease is much milder now than in the past, and complications are rare with proper treatment. Therapies: Standard Once a person is infected with Roseola Infantum, there is little to do other than let the disorder run its course, and make the patient as comfortable as possible. Medication to bring down the fever may be helpful in serious cases. However, the use of aspirin to treat viral diseases in children and young adults should be avoided because of the risk of Reye Syndrome, a rare but life-threatening condition. (For more information, choose "Reye" as your search term in the Rare Disease Database.) Therapies: Investigational This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Roseola Infantum, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Center for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References IDENTIFICATION OF HUMAN HERPESVIRUS-6 AS A CAUSAL AGENT FOR EXANTHEM SUBITUM: K. Yamanishi, et al.; Lancet (May 14, 1988: issue 1(8594)). Pp. 1065-1067. ACUTE EXANTHEMS IN CHILDREN. CLUES TO DIFFERENTIAL DIAGNOSIS OF VIRAL DISEASE: C.A. Bligard, et al.; Postgrad Med (April 1986: issue 79(5)). Pp. 150-154, 159-167. VIRAL EXANTHEMS: J.D. Cherry; Curr Probl Pediatr (April 1983: issue 13(6)). Pp. 1-44. Roseola Infantum? pagetitle 595: Roseola Infantum 04197.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 694: Rothmund-Thomson Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Rothmund-Thomson Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Poikiloderma Congenitale Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Ectodermal Dysplasias General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rothmund-Thomson Syndrome is an inherited skin disorder characterized by an abnormal redness of the skin (erythema) caused by congested capillaries. Eventually these capillaries may become obstructed. Symptoms Most individuals with Rothmund-Thomson Syndrome have small stature. Scarring, irregular red coloring of the skin, and a wasting away of tissue are also common. Thirty-five percent of those with this syndrome are overly sensitive to sunlight (photosensitivity), and 52% develop juvenile cataracts. Other symptoms may include underdeveloped teeth and nails, unusually small hands and feet, malformed or missing thumbs, sparse and prematurely gray hair, baldness, mental retardation, growth hormone deficiency, excessive thickening of the skin on the palms of the hands and soles of the feet (hyperkeratosis), and a weakening of the bones (osteoporosis). Changes in the skin usually become apparent between the ages of three months and one year. Over the next few years, these changes progress toward a patchy, irregular discoloration of the skin. Cataracts tend to develop between the ages of two and seven years. Causes Rothmund-Thomson Syndrome is an autosomal recessive inherited disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Seventy percent of reported cases of Rothmund-Thomson Syndrome are female. The number of reported cases is small which means there is no way to determine whether the disorder actually affects more females than males. Related Disorders Symptoms of the following disorders can be similar to those of Rothmund-Thomson Syndrome. Comparisons may be useful for a differential diagnosis: Ectodermal Dysplasias are a group of hereditary, nonprogressive skin diseases characterized by eczema, poorly functioning sweat glands, sparse or abnormal hair follicles, abnormal or missing hair, disfigured nails and difficulties with the nasal passages and ear canals. Skin is satiny smooth, prone to rashes and slow to heal. (For more information on this disorder, choose "Ectodermal Dysplasia" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Rothmund-Thomson Syndrome is directed at symptoms. Dentures may be required in patients who lose their teeth. Visual impairment due to cataracts may require surgery. Retarded growth may be treated with growth hormone releasing factor. The drug etretinate may be administered for facial lesions and uneven pigmentation. Argon laser treatment may be used to shrink extremely dilated capillaries (telangiectasias). Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rothmund-Thomson Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias P.O. Box 114 Mascoutah, IL 62258 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1175. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth Lyons Jones, M.D.; W. B. Saunders Company, 1988. Pp. 124-125. Rothmund-Thomson Syndrome pagetitle 694: Rothmund-Thomson Syndrome 04198.TXT "Copyright (C) 1991 National Organization for Rare Disorders, Inc. 785: Roussy-Levy Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Roussy-Levy Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Charcot-Marie-Tooth-Roussy-Levy Disease Charcot-Marie-Tooth Disease (Variant) Hereditary Motor Sensory Neuropathy HMSN I Hereditary Areflexic Dysstasia Hereditary Motor Sensory Neuropathy I Information on the following diseases can be found in the Related Disorders section of this report: Charcot-Marie-Tooth Disease Dejerine-Sottas Disease Hereditary Sensory Radicular Neuropathy Refsum Syndrome Friedreich's Ataxia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Roussy-Levy Syndrome is a rare genetic motor sensory disorder. Major symptoms may include a foot deformity (claw foot), muscle weakness, atrophy of the leg muscles and tremor in the hands. Symptoms Symptoms of Roussy-Levy Syndrome are similar to other hereditary motor sensory neuropathies in that there is weakness and atrophy of the leg muscles with some loss of feeling. People with this syndrome have difficulty walking and a lack of reflexes and deformity of the foot or feet (pes cavus). Roussy-Levy differs, however, from other hereditary motor sensory neuropathies because of the very early onset of the disorder during childhood and it's slowly progressive course. Roussy-Levy also has as one of it's characteristics a slight tremor in the hands. Even though the disorder begins in early childhood it may or may not cause disability. Causes Roussy-Levy is inherited through autosomal dominant genetic transmission. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Roussy-Levy is a rare disorder that affects both sexes in equal numbers. Onset is during early childhood. Related Disorders Symptoms of the following disorders can be similar to those of Roussy-Levy Syndrome. Comparisons may be useful for a differential diagnosis: Charcot-Marie-Tooth Disease is an hereditary neurological disorder. It is characterized by weakness and atrophy of the legs and disappearance of the fatty shield surrounding the nerves. The most incapacitating initial symptom is "foot drop". The disorder has a gradual progression usually beginning in middle childhood through age 30. Symptoms of CMT may arrest spontaneously or it may continue to progress slowly. Patients may remain active for years. (For more information on this disorder, choose "Charcot-Marie-Tooth" as your search term in the Rare Disease Database). Dejerine-Sottas Disease is a hereditary neurological disorder which progressively affects mobility. It tends to begin suddenly, usually between ten and thirty years of age. Tingling, prickling or burning sensations are usually the initial symptoms. Weakness is commonly first noticed in the muscles of the back of the legs. This then spreads to the front leg muscles. Pain, loss of heat sensitivity, absence of reflexes and atrophy of leg muscles are further symptoms of Dejerine-Sottas Disease. (For more information on this disorder, choose "Dejerine-Sottas" as your search term in the Rare Disease Database). Hereditary Sensory Radicular Neuropathy is a dominant hereditary disorder characterized initially by pain and loss of heat sensation in the feet and lower legs. Later the patient may have attacks of sharp pains throughout the body and weakness in the legs along with ulcers of the feet. (For more information on this disorder, choose "Hereditary Sensory Radicular Neuropathy" as your search term in the Rare Disease Database.) Refsum Syndrome is a rare recessive hereditary disorder of fat metabolism which is characterized by peripheral neuropathy, impaired muscle coordination (ataxia), eye problems, deafness, and bone and skin changes. It is associated with marked accumulation of phytanic acid in the blood plasma and tissues. The disorder may be due to the absence of phytanic acid hydroxylase, an enzyme needed for the metabolism of phytanic acid. (For more information on this disorder, choose "Refsum Syndrome" as your search term in the Rare Disease Database). Friedreich's Ataxia is a hereditary syndrome characterized by slow degenerative changes of the spinal cord and the brain. Dysfunction of the central nervous system affects coordination of the muscles in the limbs. Speech can be affected and numbness or weakness of the arms and legs develops. This syndrome is the most common of the many different forms of hereditary ataxia and usually begins in childhood or during teenage years. It produces an unsteady gait, staggering, and lurching or trembling when standing or walking. In time tremors may occur in the hands or arms. (For more information on this disorder, choose "Friedreich's Ataxia" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Roussy-Levy Syndrome may include use of braces for the foot deformity or orthopedic surgery on the feet to correct the imbalance of the affected muscles. Genetic counseling may be of benefit to patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research is ongoing into possible new therapies for the hereditary motor sensory neuropathy disorders. For the most current information, please contact the agencies listed in the Resource section of this report. This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Roussy-Levy Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Charcot-Marie-Tooth Association Crozer Mills Enterprise Center 601 Upland Ave. Upland, PA 19105 (215) 499-7486 Charcot-Marie-Tooth International 34-B Bayview Drive St. Catherines, Ontario Canada L2N 4Y6 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1989. Pp.666. MORPHOLOGICAL STUDIES OF PERIPHERAL NERVES FOR A BETTER UNDERSTANDING OF CHARCOT-MARIE-TOOTH ATROPHY AND ROUSSY-LEVY HEREDITARY AREFLEXIC DYSSTASIA. J Lapresal, Ann Med Interne (1980, issue 131 (7)). Pp. 397-400. PROGRESSIVE ATAXIA AND DISTAL MUSCULAR ATROPHY--DIFFERENTIAL DIAGNOSTIC CONSIDERATIONS ON ROUSSY-LEVY SYNDROME., F. Aksu, et al;, Klin Padiatr (March-April 1986, issue 198 (2) ). Pp. 114-118. ROUSSY-LEVY HEREDITARY AREFLEXIC DYSSTASIA. ITS HISTORICAL RELATION TO FRIEDREICH'S DISEASE, CHARCOT-MARIE-TOOTH ATROPHY AND DEJERINE-SOTTAS HYPERTROPHIC NEURITIS; THE PRESENT STATUS OF THE ORIGINAL FAMILY; THE NOSOLOGIC ROLE OF THIS ENTITY., J. Lapresle, Rev Neurol (1982, issue 138 (12)). Pp. 967-978. TREATMENT OF SEVERE CONCAVE CLUBFOOT IN NEURAL MUSCULAR ATROPHY., G. Imhauser, Z Orthop, (November-December, 1984, issue 122 (6)). Pp. 827-834. Roussy-Levy Syndrome #pagetitle 785: Roussy-Levy Syndrome 04199.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 274: Rubella _________________________ ** IMPORTANT ** It is possible the main title of the article (Rubella) is not the name you expected. Please check the SYNONYMS to find the alternate names and disorder subdivisions covered by this article. Synonyms German Measles Three-Day Measles General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rubella is a contagious viral disease characterized by swelling of lymph glands and a rash. A pregnant woman infected with Rubella during the early months of pregnancy may develop an abortion, stillbirth or congenital defects in the infant. (For more information, see the article "Rubella" in the Prevalent Health Conditions/Concerns area of NORD Services.) Symptoms Rubella has a 14- to 21-day incubation period and a 1- to 5-day preliminary phase in children. The preliminary phase may be minimal or absent in adolescents and adults. Tender swelling of the glands in the back of the head, the neck and behind the ears is characteristic. The typical rash appears days after onset of these symptoms. The Rubella rash is similar to that of measles, but it is usually less extensive and disappears more quickly. It begins on the face and neck and quickly spreads to the trunk and the extremities. At the onset of the eruption, a flush similar to that of scarlet fever may appear, particularly on the face. The rash usually lasts about three days. It may disappear before this time, and rarely there is no rash at all. A slight fever usually occurs with the rash. Other symptoms such as headache, loss of appetite, sore throat and general malaise, are more common in adults and teenagers than in children. After-effects of Rubella are rare among children, although there have been cases of joint pain (arthralgia), sleeping sickness and blood clotting problems. Adult women who contract Rubella are often left with chronic joint pains. Encephalitis is a rare complication that has occurred during extensive outbreaks of Rubella among young adults serving in the armed services. Transient pain in the testes is also a frequent complaint in adult males with Rubella. Causes Rubella is caused by an RNA virus of uncertain classification (probably a toga-virus), and is spread by airborne droplet clusters or by close contact with an infected person. A patient can transmit the disease from 1 week before onset of the rash until 1 week after it fades. Congenitally infected infants are potentially infectious for a few months after birth. Rubella is apparently less contagious than measles, and many persons are not infected during childhood. As a result, 10% to 15% of young adult women are susceptible if they have not been vaccinated against the disorder. Many cases are misdiagnosed or go unnoticed. Before the Rubella vaccine was developed, epidemics occurred at regular intervals during the spring. Major epidemics occur at about 6- to 9-year intervals. Once infected by Rubella, immunity appears to be lifelong. Related Disorders Measles, scarlet fever (scarlatina), secondary syphilis, drug rashes, erythema infectiosum (fifth disease), infectious mononucleosis, and echo-, coxsackie- and adenovirus infections must be considered in the differential diagnosis. Rubella is clinically differentiated from measles by the milder rash that disappears faster, and by the absence of the small, irregular, bright red spots (Koplik's spots) on the mucous membranes inside of the cheeks and on the tongue, a running nose (coryza), the aversion to light and a cough. A patient with measles appears more sick and the illness lasts longer. With even mild scarlet fever (scarlatina) there are usually more constitutional symptoms than in Rubella, including a severely red, sore throat. The white blood cell count is elevated in scarlet fever, but is usually normal in Rubella. The rash and swollen lymph nodes (adenopathy) of Rubella can be simulated by secondary syphilis. However, the lymph nodes are not tender in syphilis and the rash appears bronze-like. If there is doubt, a quantitative serologic test for syphilis can be performed. Infectious mononucleosis may also cause a Rubella-like swelling of lymph nodes and a skin rash, but can be differentiated by the initial lack of white blood cells (leukopenia) followed by an increase in white blood cells (leukocytosis). Many typical mononuclear cells appear in the blood smear, with appearance of antibodies to the Epstein-Barr virus. In addition, the sore throat of infectious mononucleosis is usually prominent, and malaise is greater and lasts much longer than in Rubella. A clinical diagnosis of Rubella is subject to error without laboratory confirmation, especially since many viral rashes closely mimic Rubella. Acute and convalescent serum should be obtained, if possible, for serologic testing. A 4-fold or greater rise in specific hemagglutination inhibiting antibodies confirms the diagnosis of Rubella. Therapies: Standard Prevention: The purpose of Rubella immunization programs is to prevent some of the catastrophes associated with congenital Rubella. All children between the ages of 15 months and puberty should be routinely vaccinated against Rubella. Women of childbearing age whose blood tests negative for hemagglutination inhibiting antibodies should be immunized. Conception should be prevented for at least 3 months after immunization. Rubella requires little or no treatment. Middle ear infection (otitis media), a rare complication, is usually treated with penicillin G or V in patients over 8 years of age, and with ampicillin for those under 8. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rubella, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control 1600 Clifton Road, N.E. Atlanta, GA 30333 (404) 639-3534 References Rubella: Public Health Education Information Sheet: March of Dimes Birth Defects Foundation (1984). Rubella epi{ pagetitle 274: Rubella 04200.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 276: Rubella, Congenital _________________________ ** IMPORTANT ** It is possible the main title of the article (Congenital Rubella) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Expanded Rubella Syndrome Congenital Rubella Syndrome Congenital German Measles General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Rubella is a syndrome which occurs when a fetus has been infected with the Rubella virus while in the uterus. It is primarily characterized by abnormalities of the cardiovascular system, the eyes and the hearing. Women who contract Rubella during pregnancy have a high risk of having a baby with Congenital Rubella. Symptoms As many as two thirds of infants with Congenital Rubella will be free of any abnormality at birth. The classic Congenital Rubella syndrome has been characterized by the combination of heart, eye and hearing defects, although infection and damage can occur in almost every organ system. Of the abnormalities most likely to be present at birth, cardiovascular defects are most common, such as underdevelopment (hypoplasia) of the pulmonary artery and the failure of closure of a duct connecting the pulmonary artery and aorta (patent ductus arteriosus). Low birth weight, inflammation of the bones (osteitis), enlarged liver and spleen (hepatosplenomegaly), disease of the retina (retinopathy), and cataracts of the crystalline lens of the eye also occur frequently. Brain infection (encephalitis), an abnormally small head (microcephaly), swollen lymph glands (adenopathy), inflammation of the lungs (pneumonitis), jaundice, reduced number of blood platelets (thrombocytopenia), pinpoint purplish red spots due to bleeding in the skin (petechiae) or purpura, and anemia may also occur in babies with Congenital Rubella. Congenital Rubella can be viewed as a chronic infection capable of producing progressive damage. Central nervous system abnormalities such as hearing loss, mental retardation, behavior problems and slowness in muscular development, are the frequent and significant clinical problems. Most patients who are symptomatic, and many of those who lack signs of infection at birth, will develop some degree of hearing loss or psychomotor damage during early childhood. (For more information on Congenital Rubella, see "Rubella" in the Prevalent Health Conditions/Concerns section of NORD Services.) Causes Congenital Rubella can affect a fetus when a pregnant woman who is not immune to the virus contracts Rubella (German Measles). The baby may also be affected if the mother contracts Rubella immediately before conception. Affected Population Congenital Rubella is found in newborns and infants of mothers who were infected with Rubella immediately before or during the early months of pregnancy. The frequency of Congenital Rubella thus depends upon the number of women of childbearing age who are susceptible to the virus, and the frequency of Rubella infection in the community. Before the development of Rubella virus vaccine, epidemics of Rubella and Congenital Rubella occurred about every 6 to 9 years. During epidemic years Congenital Rubella infection was found (using serologic testing to identify nonsymptomatic cases) in as many as 2% of newborns; the rate of its presence at other times (the endemic rate) is 0.1%. Widespread use of Rubella vaccine in the United States has eliminated epidemics, but the endemic rate of congenital infection appears to be about the same. Both the chance of transmission of Rubella to the fetus during pregnancy and the consequences of the infection to the unborn baby are related to the stage of development of the fetus at the time of maternal infection. Maternal infection during the first 8 weeks of pregnancy results in an infection rate in the fetus of about 50%. Subsequently the rate of transmission drops sharply to less than 10% by the 16th week of pregnancy. The proportion of infected fetuses with damage due to Rubella follows a similar pattern. With maternal Rubella at 8, 12, 13 to 20, and over 20 weeks of pregnancy, 85%, 50%, 15%, and 0% (respectively) of infected live-born infants will have Rubella-caused defects at birth or during early childhood. Therapies: Standard There is no treatment for maternal or Congenital Rubella infection. Therefore, prevention assumes paramount importance. It is most important to immunize all children with the goal of preventing epidemics. Children should receive Rubella immunization at 15 months of age, along with mumps and measles in a combined vaccine. Many authorities now recommend that a repeat Rubella immunization be given to 10-year-olds, because vaccine-induced immunity may not persist as long as naturally acquired immunity. Women of childbearing age who are susceptible to Rubella (a serum test can establish the presence of the Rubella-antibody in their blood) should also be vaccinated. Care should be taken that they should not conceive for at least three months following the vaccination. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Rubella, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References RUBELLA; Public Health Education Information Sheet: March of Dimes Birth Defects Foundation, 1984. Rubella, Congenital rupt' pagetitle 276: Rubella, Congenital 04201.TXT Copyright (C) 1987, 1989, 1992 National Organization for Rare Disorders, Inc. 461: Rubinstein-Taybi Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Rubinstein-Taybi Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Rubinstein Syndrome Broad Thumbs and Great Toes, Characteristic Facies, Mental Retardation Broad Thumb-Hallux Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Hallermann-Streiff-Francois Syndrome Bird-Headed Dwarf of Seckel Treacher Collins Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rubinstein-Taybi Syndrome is a rare genetic disorder usually recognizable at birth due to unusual facial features and abnormally wide thumbs and great toes. Mental retardation, small stature, excessive hair growth over the entire body (hirsutism), and various developmental abnormalities may occur. This disorder is not yet clearly distinguished from several other closely related disorders. Symptoms Rubinstein-Taybi Syndrome is present at birth. Major symptoms include a beaked nose, abnormally small skull, a narrow, prominent forehead, and broad thumbs and great toes. The roof of the mouth (palate) is unusually high and narrow. The ears may be low-set and possibly abnormal in shape. Mental retardation may be present. Additional abnormalities which may be exhibited by some patients include excessive hairiness (hirsutism), abnormal curvature of the spine (scoliosis), undescended testicles and/or an angulated penis in males, and congenital heart disease. Eye defects may include blocked or missing tear ducts, and/or eyes not looking in the same direction (strabismus). A small, irregularly-shaped pelvis, kidney, and lung defects may also occur in some individuals. Feeding difficulties, respiratory problems, eye and ear infections, diarrhea, and chronic constipation are common occurrences. Regurgitation, vomiting, gagging, or choking are very common. With time, many patients with this disorder seem to outgrow these problems. Usually their health tends to improve greatly after approximately four or five years of age. Causes The exact cause of Rubinstein-Taybi Syndrome is not known. Scientists believe it is inherited, although the exact mode of transmission has not yet been determined. It is possible that some cases may be caused by a genetic mutation affecting only one generation. Affected Population Since Rubinstein-Taybi Syndrome was first described by Doctors Rubinstein and Taybi in 1963, more than 250 cases have been reported in the medical literature in the United States. According to one study, it may affect approximately one in 300 to 500 institutionalized persons with mental retardation in the United States. There is no estimate for the prevalence among non-institution patients. This disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Rubinstein-Taybi Syndrome. Comparisons may be useful for a differential diagnosis: Hallermann-Streiff-Francois Syndrome, also known as Mandibulo-Oculofacial Dyscephaly, is a syndrome characterized by bony abnormalities of the skull (calvaria), face, and jaw. Patients have a bird-like face with a narrow, curved nose, and a variety of eye defects including abnormally small eyeballs (microphthalmia), abnormally small corneas, and cataracts. A congenital loss of hair (Alopecia Areata) and thinned or absent eyebrows may also occur. This disorder is also called congenital sutural alopecia, progeria (premature aging) with cataract or with microphthalmia, oculomandibulodyscephaly, or Hallermann-Streiff Syndrome. (For more information on this disorder, choose "Hallermann" as your search term in the Rare Disease Database. Bird-Headed Dwarf of Seckel, also known as Nanocephaly, is a genetic disorder characterized by a low birth weight, a slender body, limited height, a beak-like nose, protrusion of the central face, receding chin, possible abnormalities of skin pigmentation, and excessive hair growth (hypertrichosis). Mental development rarely passes the five year old level, and males may have undescended testicles. (For more information on this disease, choose "Seckel" as your search term in the Rare Disease Database.) Treacher Collins Syndrome, also known as Franceschetti-Zwahlen-Klein Syndrome or Mandibulofacial Dysostosis, is a genetic disorder marked by arrested development, and defective bone formation during the prenatal period. A bird-like or fish-like facial appearance may be accompanied by sunken cheek bones, a receding chin with a large wide mouth, low-set and possibly malformed ears, abnormal angle of the nose, abnormal tooth development, and prolongation of the hairline on the cheeks. Loss of hearing, fusion of joints in the limbs and spine, atrophy of thumbs and toes, possible mental retardation, and a defect of the lower eye lids (coloboma) may also occur. (For more information on this disorder, choose "Treacher" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Rubinstein-Taybi Syndrome is symptomatic and supportive. Patients may benefit from services for mentally retarded individuals. Speech therapy, sign language lessons, or an alternative method of communication should be taught as soon as possible. Drugs or surgery may improve some associated symptoms. Antibiotics may be helpful to treat infections. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rubinstein-Taybi Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Rubinstein-Taybi Parent Support Group 414 E. Kansas Smith Center, KS 66967 (913) 282-6237 For case documentation of Rubinstein-Taybi Syndrome patients: Jack H. Rubinstein, Director Cincinnati Center for Developmental Disorders Cincinnati, OH 45229-2899 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References RUBINSTEIN-TAYBI SYNDROME: FURTHER EVIDENCE OF A GENETIC AETIOLOGY: D.R. Gillies, et al.; Dev Med Child Neurol (December 1985, issue 27(6)). Pp. 751-755. DOMINANT INHERITANCE OF A SYNDROME SIMILAR TO RUBINSTEIN-TAYBI: P Cotsirilos, et al.; Am J Med Genet (January 1987, issue 26(1)). Pp. 85-93. RUBINSTEIN-TAYBI SYNDROME IN THE NEONATE: R. Gambon, et al.; Helv Paediatr Acta (August 1984, issue 39(3)). Pp. 279-283. Rubinstein-Taybi Syndrome r sem p pagetitle 461: Rubinstein-Taybi Syndrome 04202.TXT `%\%Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 377: Russell-Silver Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Russell-Silver Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Silver-Russell Syndrome Russell Syndrome Silver Syndrome Asymmetry-Dwarfism Information on the following diseases can be found in the Related Disorders section of this report: Achondroplasia Prader-Willi Syndrome Cornelia-de Lange Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Russell-Silver Syndrome is a growth disorder commonly thought of as a type of dwarfism. It can be diagnosed before birth. People with this disorder are often very short (although some may attain normal height in adulthood) and have shortened arms, small triangular-shaped faces and light brown spots on their skin. Intelligence is often normal although in some cases mental retardation may occur. Children may reach puberty earlier than usual. Some developmental abnormalities tend to improve with age. In some cases of this disorder, organs are larger on one side of the body than the other (asymmetry). These cases are sometimes known as Silver Syndrome. Other cases involving normal sized organs on both sides of the body are sometimes known as Russell Syndrome. Therefore, patients may be diagnosed as having Russell Syndrome, Silver Syndrome, Russell Silver Syndrome or Silver Russell Syndrome. Symptoms Full term infants with Russell-Silver Syndrome are usually small at birth and may remain short throughout life. A small triangular face with corners of the mouth turned down and a prominent forehead are also initial signs of this disorder. Other symptoms may include unusually shortened arms, short incurved fifth fingers, light brown spots on the skin, webbing (syndactylism) of toes and/or failure of testes to descend into the scrotum (cryptorchidism). The head of people with this disorder is usually of normal size even though it appears to be large in comparison to the rest of the body. Causes The cause of Russell-Silver Syndrome is unknown although some medical researchers believe it may be inherited as either an X-linked or dominant trait with incomplete penetrance. Incomplete penetrance means the severity of the disorder is determined by the degree to which the gene defect has produced abnormalities. Other possible causes may include fetal disturbance at six to seven weeks gestation, or defects in the body's ability to manufacture or utilize human growth hormone. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Russell-Silver Syndrome begins during the gestation period and affects males and females in equal numbers. However, males are usually more severely affected than females. Related Disorders There are many different growth disorders that can cause dwarfism. Some of these disorders involve hormone imbalances while others are characterized by bone growth dysfunction. Following is information on a small number of growth disorders: Achondroplasia is one of a group of growth disorders known as the osteochondroplasias. It is principally characterized by the failure of normal endochondral bone formation; i.e., there is a disturbance in the production and formation of the cartilage at the end of the long bones which inhibits the elongation of the bones. While it may be one of the most common forms of congenital bone disturbances present from birth, this disorder may not become apparent until failure of normal skeletal growth becomes obvious later in childhood. Prader-Willi Syndrome is a complex, multi-system disorder diagnosed more often in males. Usually an affected infant will be born following a prolonged gestation period. The primary features of the disorder include infantile muscle weakness (hypotonia), failure to thrive, hypogonadism, and development of severe obesity with short stature and possible disturbances of intellectual and behavioral functioning. Cornelia de Lange Syndrome is a growth disorder characterized by low birth weight, "normal" chromosome analysis, characteristic facial and skeletal defects, and some degree of mental retardation ranging from mild to profound. While not considered "hereditary", it carries a familial recurrence risk factor of 2-5%. Turner Syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possibly mental retardation, a webbed neck, heart defects, and various other congenital problems. Individuals have an XO karyotype (i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males), but they have a female appearance. For more information on the above disorders, choose "Achondroplasia," "Prader-Willi," "Turner," and "Cornelia-de Lange" as your search terms in the Rare Disease Database. Therapies: Standard Human Growth Hormone (HGH) is used for treatment of Russell-Silver Syndrome and other types of dwarfism. Some gains in overall body growth may occur with this therapy. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through February 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Russell-Silver Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Children with Russell-Silver Syndrome 22 Hoyt Street Madison, NJ 07940 (201) 377-4531 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Rd. Towson, MD 21204 (301) 337-1250 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1 BS England For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References TREATMENT OF SILVER-RUSSELL TYPE DWARFISM WITH HUMAN GROWTH HORMONE: EFFECTS ON SERUM SOMATOMEDIN-C LEVELS AND ON LONGITUDINAL GROWTH STUDIED BY KNEMONETRY: C.J. Partsch, et. al.; Acta Endocrinol [Suppl] (Copenh) (1986, issue 279). Pp. 139-146. REEVALUATION OF RUSSELL-SILVER SYNDROME: R.A. Pagon, et. al.; J Pediatr (Nov. 1985, issue 107(5)). Pp. 733-737. X-LINKED SHORT STATURE WITH SKIN PIGMENTATION: EVIDENCE FOR HETEROGENEITY OF THE RUSSELL-SILVER SYNDROME: M.W. Partington; Clin Genet (Feb. 1986, issue 29(2)). Pp. 151-156. Russell-Silver Syndrome t, Sk& n&pagetitle 377: Russell-Silver Syndrome 04171.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 105: Reiter's Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Reiter's Syndrome) is not the name you expected. Please check the SYNONYM listing to find the synonyms and disorder subdivisions covered by this article. Synonyms Blennorrheal Idiopathic Arthritis Arthritis Urethritica Venereal Arthritis Conjunctivourethrosynovial Syndrome Feissinger-Leroy-Reiter Syndrome Polyarthritis Enterica Ruhr's Syndrome Urethro-Oculo-Articular Syndrome Waelsch's Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Reiter's syndrome is characterized by inflammation of the joints, urethra, and conjunctiva of the eye, and by lesions of the skin and mucosal surfaces. Symptoms do not necessarily appear simultaneously; they may alternate, and there may be spontaneous remissions and recurrences. The syndrome rarely disables its victims. It appears to result from abnormal immune response in association with exposure (usually sexual) to an infectious agent. It affects primarily men between the ages of 20 and 40 years. Symptoms Onset of Reiter's Syndrome is between 20 and 40 years of age. Urethritis is usually the first symptom to appear, often after a sexual encounter. Urethral symptoms may be so mild initially that they seem unremarkable until later symptoms suggest the diagnosis. More often, though, urination may be painful, there may be blood in the urine, and there may be a purulent discharge. Later genitourinary symptoms can include inflammation of the prostrate gland and/or seminal vesicles (but very seldom the epididymis or the testes), and of the bladder (cystitis). Cystitis may cause increased urinary frequency, pain, blood tinged urine, and in severe or prolonged cases, obstruction of the ureters, the passages leading from the kidneys to the bladder. Other symptoms appear within 4 days to 4 weeks of the onset of urethritis. Arthritis usually has a sudden onset, affecting more than one joint. It is asymmetrical; joints of the legs and feet are involved most often; the hips and shoulders are almost never affected. Joints are warm, reddish, and painful. Although episodes of arthritis usually last at least 2 to 4 months, symptoms begin to subside within 2 to 6 weeks. Spontaneous remission often occurs within the first year, but some attacks last several years. In such cases, the involved joints may be permanently damaged. Tendons may also become inflamed. Conjunctivitis normally last only a few days, and seldom longer than a month, although it commonly recurs. It is mild and affects both eyes. The eyes burn, itch, and may discharge a viscous mucous. Occasionally, the uvea, a layer of the eye that includes the iris and choroid, also becomes inflamed, with possible symptoms of increased sensitivity to light, glaucoma, cataracts, and blindness in severe cases. Similarly, the cornea may be involved (keratitis) with pain and irritability of the eye, tearing, increased light sensitivity, and the sensation that something is present in the eye. Lesions of the skin and mucous linings occur on the penis (especially the glans), palms of the hands, soles of the feet, and in the mouth, urethra, and bladder. They cause little pain, and disappear quickly. Initially, they resemble small blisters, which then become eroded and reddish. Keratoderma blennorrhagica refers to lesions of the skin, as opposed to those of the mucosae; these lesions are scaly and crusty, eventually peeling off. They are found primarily on the hands, trunk, and arms. Mucocutaneous lesions leave no scars. The fingernails are often thick, opaque, and brittle, with dead skin accumulated underneath. Rarely, patients develop heart abnormalities including an incompetent aortic valve. Nervous system abnormalities may include inflammation of nerves, meningitis, paralysis, and psychosis. Laboratory findings include elevated levels of white blood cells in the blood and synovial fluids, and, frequently, the presence of an unusual cell marker, HLA-B27 antigen. Causes Reiter's syndrome usually makes its appearance after sexual exposure, although occasionally it follows an episode of acute diarrhea due to unknown causes. This, and the fact that many patients have an unusual cell marker (see section on Symptoms), suggests that the syndrome results from infection of genetically susceptible individuals with some infectious agent, probably shigella, or chlamydia or similar organisms. Affected Population Reiter's Syndrome predominantly affects men between the ages of 20 and 40 years. Related Disorders Arthritis with simultaneous urethritis due to gonorrhea may mimic some symptoms of Reiter's syndrome. Behcet's syndrome has similar symptoms of oral and genital ulcers and eye inflammation, and often arthritis, but the lesions are different from those in Reiter's syndrome. Therapies: Standard Treatment for Reiter's Syndrome is symptomatic. Antiinflammatory drugs such as aspirin, indomethacin, or phenylbutazone usually provide relief of arthritis. In severe cases, folic acid antagonists such as methotrexate, which act as immunosuppressants but can have serious side effects, may relieve symptoms. Corticosteroids are ineffective in this disorder. Urethritis may respond to tetracycline. Physical therapy may be useful during recovery from arthritis. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Reiter's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References Petersdorf, Robert, G., et al, editors, Harrison's Principles of Internal Medicine, tenth edition, pp. 1989-90. McGraw-Hill, New York: 1983. Reiter's Syndrome pagetitle 105: Reiter's Syndrome 04172.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 691: Renal Agenesis, Bilateral _________________________ ** IMPORTANT ** It is possible that the main title of the article (Bilateral Renal Agenesis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Kidney Agenesis Renal Agenesis Information on the following diseases can be found in the Related Disorders section of this report: Oligohydramnios Sequence (Potter Syndrome) Cat-Eye Syndrome Fraser Syndrome Melnick-Fraser Syndrome MURCS Association Rokitansky Sequence Sirenomelia Sequence Unilateral Renal Agenesis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid (Oligohydramnios) in a pregnant woman. Normally, the amniotic fluid acts as a cushion for the developing fetus. When there is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby. This disorder is more common in infants born of a parent who has a kidney malformation, particularly the absence of one kidney (unilateral renal agenesis). Studies have proven that unilateral renal agenesis and bilateral renal agenesis are genetically related. Symptoms Bilateral renal agenesis is characterized by the absence of kidneys and of urine in a baby. The face usually consists of wide-set eyes; a "parrot beak" nose; a receding chin, and large low set ears deficient in cartilage. Other symptoms may include excess and dehydrated skin, a prominent fold at the corner of each eye, the facial expression of an older infant, and deformities of the hands and feet. Premature labor, breech delivery and a disproportionately low birthweight are often associated with bilateral renal agenesis. The baby may also have multiple malformations including in females the absence of a uterus and upper vagina, or in males an absence of seminal vesicles and spermatic duct. Gastro-intestinal malformations such as the absence of a rectum, esophagus and duodenum may also occur. Symptoms may further include the presence of only a single umbilical artery, and major deformities of the lower part of the body and the lower limbs. Causes Bilateral renal agenesis is an autosomal dominant genetic disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Bilateral renal agenesis tends to occur when at least one parent has a kidney malformation or the absence of a kidney (unilateral kidney agenesis). Affected Population Bilateral renal agenesis is found in male infants more frequently than females. It tends to occur in the children of parents having kidney abnormalities. It is a very rare disorder. Related Disorders Symptoms of the following disorders can be similar to those of Bilateral Renal Agenesis. Comparisons may be useful for a differential diagnosis: Oligohydramnios Sequence (Potter Syndrome) is characterized by an insufficient level of amniotic fluid. It may be caused by the absence of urinary output by the fetus or by chronic leakage of fluid from the amniotic sack. Cat-Eye Syndrome (Coloboma of Iris-Anal Atresis Syndrome), is a disorder which is characterized by a fissure in the iris of the eye and the absence of an anal opening. Other abnormalities may include renal agenesis. Fraser Syndrome (Cryptophthalmos Syndrome) is a genetic disorder in which the infant is born with sealed eyelids and incomplete development of the sexual organs. Melnick-Fraser Syndrome (Branchio-Oto-Renal Syndrome) is a genetic disorder characterized by hearing loss and kidney malformations, including renal agenesis. MURCS Association (Mullerian Duct, Renal and Cervical Vertebral Defects) is a rare disorder characterized by malformation of the vertebrae, and absence of a vagina and kidneys. Rokitansky Sequence is a disorder in which the vagina and uterus are incompletely formed. Sirenomelia Sequence results in the growth of a single lower extremity. (For more information on this disorder, choose "Sirenomelia" as your search term in the Rare Disease Database. Unilateral Renal Agenesis is the presence of only one kidney at birth. Therapies: Standard Treatment of bilateral renal agenesis is symptomatic and supportive. Therapies: Investigational Research into the cause of renal agenesis is ongoing, with the hope of identifying the gene that causes this birth defect. This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on this Bilateral Renal Agenesis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) National Institute of Diabetes and Digestive and Kidney Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-3585 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 749-750. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Company, 1988. Pp. 572-573. Renal Agenesis, Bilateral pagetitle 691: Renal Agenesis, Bilateral 04173.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 685: Renal Glycosuria _________________________ ** IMPORTANT ** It is possible that the main title of the article (Renal Glycosuria) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Renal Glucosuria Primary Renal Glycosuria Congenital Renal Glycosuria Diabetes, True Renal Information on the following diseases can be found in the Related Disorders section of this report: Diabetes Mellitus Fanconi's Syndrome Hypophosphatemic Rickets General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Renal Glycosuria is a rare metabolic disorder in which the body excretes abnormal amounts of sugar into the urine. One type of renal glycosuria may be related to defects of the renal (kidney) tubes that cause an excess of amino acids (aminoaciduria) and an accumulation of acids (acidosis). Blood sugar levels are usually low or within normal limits despite high levels of glucose in the urine. In most cases symptoms can be controlled with a proper diet. Symptoms There are two types of Renal Glycosuria. Primary Renal Glycosuria is a separate disorder that occurs without any apparent functional or structural abnormalities of the kidney. It tends to occur in pregnant women and disappears after childbirth. Congenital Renal Glycosuria is a rare inherited disorder characterized by the intestines' inability to absorb glucose (sugar) and galactose (milk-sugar), and an excessive amount of sugar in the urine. It is present at birth and may cause severe diarrhea. Since the primary symptom of Renal Glycosuria is excessive amounts of sugar in the urine, other diagnostic testing such as a Fasting Blood Sugar Test and a Glucose Oxidase Test must be done to differentiate this disorder from Diabetes Mellitus. Causes The exact cause of Renal Glycosuria is unknown. It is known to be a metabolic disorder, believed to be inherited as an autosomal recessive trait. Some scientists believe it may precede the onset of Diabetes Mellitus, but this has not been proven. Human traits, including the classic genetic diseases, are the product of the interaction of 2 genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be the carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five per cent. Fifty per cent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Glycosuria is a very rare disorder that affects males and females in equal numbers. There is a higher incidence of the disorder in women during pregnancy, with the symptoms subsiding after delivery. Some patients with severe renal (kidney) failure, will also have Renal Glycosuria. Related Disorders Symptoms of the following disorders can be similar to those of Renal Glycosuria. Comparisons may be useful for a differential diagnosis: Diabetes Mellitus is a common disorder in which the body does not produce enough insulin and is, therefore, unable to convert nutrients into the energy necessary for daily activity. Abnormal levels of sugar appear in the blood and urine. The disorder affects females and males approximately equally. Although the causes of diabetes mellitus are not known, genetic factors seem to play a role. (For more information on this disorder, choose "Diabetes" as your search term in the Rare Disease Database). Fanconi's Syndrome usually accompanies some other disease, most commonly the inherited metabolic disease, cystinosis. It is characterized by abnormal renal proximal tubular function, particularly defective reabsorption of glucose, phosphates, amino acids, bicarbonate, water, potassium and sodium. The Fanconi Syndrome may result from drug toxicity, renal transplantation, multiple myeloma and other malignancies, amyloidosis, certain other hereditary amino acid syndromes, and certain toxins. (For more information on these disorders, choose "Fanconi" and "Cystinosis" as your search term in the Rare Disease Database). Hypophosphatemic Rickets (Phosphate Diabetes), is a rare genetic form of Rickets characterized by impaired transport of phosphate in the body, combined with diminished Vitamin-D metabolism in the kidneys. Additionally, calcium and phosphate are not absorbed properly in the intestines which can lead to softening of the bones. Major symptoms include skeletal changes, weakness and slowed growth. Cases affecting females are usually less severe than those affecting males. One rare acquired form of this disorder may be associated with a benign tumor. (For more information on this disorder, choose "Hyophosphatasia" as your search term in the Rare Disease Database). Therapies: Standard Since Renal Glycosuria is a not a progressive disorder, treatment may not be necessary. Since patients may lose an excessive amount of sugar with this disorder, fasting should be avoided since in theory it could lead to abnormally low blood sugar levels (hypoglycemia). Infants with Renal Glycosuria who have severe diarrhea must be treated with appropriate medications to avoid dehydration. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Renal Glycosuria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (800) 638-8299 (800) 492-8361 (In MD) (301) 881-3052 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301)468-6344 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 971. THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1806. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 880-881. THE MERCK MANUAL, Volume 2, 14th Ed.: Robert Berkow, M.D. ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 1047. COMPLETE ABSENCE OF TUBULAR GLUCOSE REABSORPTION; A NEW TYPE OF RENAL GLUCOSURIA. B.S. Oemar et al.; CLIN NEPHROL, (March 1987; 27(3)). Pp. 156-160. Renal Glycosuria pagetitle 685: Renal Glycosuria 04174.TXT !Copyright (C) 1989, 1993 National Organization for Rare Disorders, Inc. 611: Respiratory Distress Syndrome, Adult _________________________ ** IMPORTANT ** It is possible that the main title of the article (Adult Respiratory Distress Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Acute Respiratory Distress Syndrome ARDS Shock Lung Wet Lung Pump Lung Information on the following diseases can be found in the Related Disorders section of this report: Bronchial Asthma Pneumonia Emphysema Respiratory Distress Syndrome, Infant General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Adult Respiratory Distress Syndrome is a lung disorder caused by direct injury to the lungs or acute illness. Major symptoms may include breathing difficulties (dyspnea), rapid breathing (tachypnea), excessively deep and rapid breathing (hyperventilation) and insufficient levels of oxygen in the circulating blood (hypoxemia). Symptoms Adult Respiratory Distress Syndrome often occurs in conjunction with other illnesses and is characterized by the inability to breathe properly. Mechanical ventilation, surgical insertion of a breathing tube (tracheotomy) or positive end-expiratory pressure (PEEP) is usually necessary to aid in breathing. The patient can neither breathe in or out sufficiently enough to clear the lungs. Secondary conditions may occur resulting in pneumonia, or other infections. Chronic lung disease, multiple organ system failure and irreversible respiratory dysfunction may also occur. Causes Adult Respiratory Distress Syndrome is caused by acute illness or injury that either directly or indirectly affects the lungs. Some of the conditions are: direct chest injury (trauma), prolonged or profound shock (depression of the body's vital signs), blockage (embolism) of the airways in the lungs, heart bypass surgery, oxygen poisoning, blood poisoning, or acute bleeding (hemorrhagic) inflammation of the pancreas and bacterial or viral pneumonias. Affected Population Adult Respiratory Distress Syndrome can affect persons of any age who suffer acute injury or illness affecting the lungs. Related Disorders Symptoms of the following disorders can be similar to those of Adult Respiratory Distress Syndrome. Comparisons may be useful for a differential diagnosis: Bronchial Asthma is a common respiratory disease marked by many different causes, airway irritability, and airway inflammation. Most of these problems are treatable. Asthma affects 2 to 6 percent of the U.S. population. It usually begins before the age of ten in about one-half of all patients and occurs twice as often in males as in females. Pneumonia is an infection of the lungs. Symptoms such as fever, cough, large amounts of mucous production (sputum), fluid in the space surrounding the lungs (pleurisy) and/or chills occur. Chest pain, headache, diarrhea, sore throat and fever blisters may also develop. Shortness of breath, difficulty in breathing, decreased exercise tolerance and night sweats are characteristic. Pneumonia frequently occurs in middle-aged to older adults with various underlying diseases. However, it can occur in persons of all ages, statistically most often in winter and early spring. Pneumonia can be caused by various bacteria, viruses, and other infectious agents. Emphysema is characterized by abnormal difficulty in breathing upon exertion. As the disease advances it becomes more and more difficult for the patients to breathe. In advanced stages, breathing even at rest is difficult. The patient becomes thin and malnourished-appearing with a barrel-shaped chest, and appears to be in respiratory distress even during mild exertion as indicated by noisy expulsion of air. The causes of Emphysema may include air pollution, smoking, occupational exposure to mineral dusts, vegetable dusts and fibers. Regularly inhaled fumes and gases, infection and heredity may also play an important part in the development of Emphysema. The disease may progress even with intensive treatment and after stopping smoking. However, one hereditary type of Emphysema (alpha-1-Antitrypsin Deficiency) is treatable with the orphan drug Prolastin (For more information on this disorder, choose "Alpha-1-Antitrypsin" as your search term in the Rare Disease Database.) Respiratory Distress Syndrome of the Infant, also called Hyaline Membrane Disease of the Newborn, is characterized by respiratory distress seen especially in premature babies. A clear membrane is found lining the alveolar spaces in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant). The surfactant is a lipoprotein that stabilizes alveolar volume. When this surfactant is missing the affected infant must be placed on some type of ventilator. Recently new drugs are being developed to aid the infant in breathing. Surfactant TA is an orphan drug under development by Ross Laboratories, a division of Abbott Laboratories. Human Surf is a second orphan drug being developed by Dr. T. Allen Merritt of the University of California Medical Center, in San Diego. More research is needed to determine the safety and effectiveness of the therapies on new born infants. (For more information on this disorder, choose "Infant Respiratory Distress Syndrome" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Adult Respiratory Distress Syndrome includes the use of mechanical ventilation, physical ventilation (PEEP) and surgical insertion of a breathing tube (tracheotomy). Treatment of secondary infections includes use of antibiotics and surgical drainage of closed space infections. Infection is the most serious complication in the ARDS patient because it frequently leads to spread of bacteria throughout the body with low blood pressure and multiple organ failure with extremely serious complications. Careful infection control measures are recommended for those in contact with patients. Treatment is deemed successful when the patient no longer needs mechanical assistance for breathing. Therapies: Investigational Two drugs, Ketoconazole (antifungal) and Prostaglandin (a natural hormone), are being investigated for use in treating Adult Respiratory Distress Syndrome to prevent secondary infection. More research is necessary to determine long-term effectiveness of these treatments. The use of the orphan drug, colfosceril palmitate, cetyl alcohol, tyloxapol, trade name Exosurf, is being tested in the treatment of Adult Respiratory Distress Syndrome. The drug is sponsored by: Burroughs Wellcome Co., 3030 Cornwallis Rd., Research Triangle Park, NC, 27709. This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Adult Respiratory Distress Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Blood & Lung Institute (NHBLI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 612, 614, 618, 1537. KETOCOAZOLE PREVENTS ACUTE RESPIRATORY FAILURE IN CRITICALLY ILL SURGICAL PATIENTS. G.J. Slotman, et al.; J Trauma (May, 1988, issue 28 (5)). Pp. 648-654. ADULT RESPIRATORY DISTRESS SYNDROME IN PEDIATRIC PATIENTS. II MANAGEMENT. J. Royall, et al.; J Pediatr (March, 1988, issue 112 (3)). Pp. 335-347. PULMONARY EXTRACTION AND PHARMACOKINETICS OF PROSTAGLANDIN E1 DURING CONTINUOUS INTRAVENOUS INFUSION IN PATIENTS WITH ADULT RESPIRATORY DISTRESS SYNDROME. J.W. Cox, et al.; Am Rev Respir Dis (January, 1988, issue 137 (1)). Pp. 5-12. Respiratory Distress Syndrome, Adult #pagetitle 611: Respiratory Distress Syndrome, Adult 04175.TXT $Copyright (C) 1989, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 618: Respiratory Distress Syndrome, Infant _________________________ ** IMPORTANT ** It is possible that the main title of the article (Respiratory Distress Syndrome, Infant) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Infantile Respiratory Distress Syndrome IRDS Hyaline Membrane Disease Information on the following diseases can be found in the Related Disorders section of this report: Respiratory Distress Syndrome, Adult Pulmonary Alveolar Proteinosis Pneumonia Bronchial Asthma Emphysema General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Infant Respiratory Distress Syndrome is a lung disorder which tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs which may require mechanical ventilation or positive end-expiratory pressure (PEEP). Symptoms Infant Respiratory Distress Syndrome is characterized by diminished oxygen intake in the premature newborn. A clear membrane is found lining the alveolar (air cell) ducts in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant). The surfactant is a lipoprotein based on lecithin that stabilizes alveolar membranes. When this surfactant is missing, breathing is difficult and may lead to collapse of a lung. The affected infant must be placed on some type of ventilation, either mechanical or physical, in order to continue breathing. Causes Infant Respiratory Distress Syndrome is caused by the absence of a natural lung wetting agent (surfactant) in the immature lungs of infants. Since surfactant normally develops late in prenatal life it usually is not present in the very premature infant of about 26-36 weeks of gestational age. This can result in improper functioning of the alveoli (air cells) of the lungs causing breathing difficulties and collapsed lungs. Affected Population Infant Respiratory Distress Syndrome affects male and female premature infants in equal numbers. Among approximately 250,000 infants born prematurely each year in the United States, up to 50,000 will have IRDS which will kill approximately 5,000 of them. Due in large part to the use of surfactants beginning in 1989, infant mortality rates in the United States have dropped from 9.7 per 1,000 births in 1989 to 8.9 per 1,000 births in 1991. Related Disorders Symptoms of the following disorders can be similar to those of Infant Respiratory Distress Syndrome, although they tend to affect older children or adults: Adult Respiratory Distress Syndrome is a lung disorder caused by direct injury to the lungs or acute illness. It often occurs in conjunction with other illnesses and is characterized by the inability to breathe properly. Mechanical ventilation, surgical insertion of a breathing tube (tracheotomy) or positive end-expiratory pressure (PEEP) is usually necessary to aid in breathing. Secondary complications may occur resulting in pneumonia, blood poisoning (sepsis) or other infections. Chronic lung disease, multiple organ system failure and irreversible respiratory dysfunction may also occur. (For more information on this disorder, choose "Adult Respiratory Distress Syndrome" as your search term in the Rare Disease Database). Pulmonary Alveolar Proteinosis is a rare lung disorder characterized by breathing difficulty that gradually becomes more severe, especially following exertion. The air sacs in the lungs (alveoli) are filled with a granular material (phospholipid) consisting mostly of protein and fat. Certain cells called macrophages, that usually swallow inhaled particles in the lung alveoli, can be found in the phospholipid material. This disorder may spread throughout the lungs or be confined to a small area. It may progress, remain stable, or spontaneously clear. (For more information on this disorder, choose "Pulmonary Alveolar Proteinosis" as your search term in the Rare Disease Database). Pneumonia is marked by excessive accumulation of fluid in the lungs due to an infection. Symptoms such as fever, cough, large amounts of mucous production (sputum), fluid in surrounding the lungs (pleurisy) and/or chills occur. Chest pain, headache, diarrhea, sore throat and fever blisters may also develop. Shortness of breath, difficulty in breathing, decreased exercise tolerance and night sweats are characteristic. Pneumonia occurs frequently in middle-aged to older adults with various underlying diseases. It can occur in persons of all ages, statistically most often in winter and early spring. Pneumonia can be caused by various bacteria, viruses, and fungi. Bronchial Asthma is a common respiratory disease due to many different causes, airway irritability of unknown causes, and airway inflammation. Most of these problems are treatable. Asthma affects 2 to 6 percent of the U.S. population. It usually begins before the age of ten in about one-half of all patients and occurs twice as often in males as in females. Emphysema is characterized by abnormal difficulty in breathing upon exertion. As the disease advances it becomes more and more difficult for the patients to breathe. In advanced stages, breathing even at rest is difficult. The patient becomes thin and malnourished-appearing with a barrel-shaped chest, and appears to be in respiratory distress even during mild exertion as indicated by noisy expulsion of air. Lack of elasticity in lung tissue obstructs the airflow during exhalation. There is loss of lung tissue with abnormally enlarged air spaces. The causes of Emphysema may include air pollution, smoking, occupational exposure to mineral dust, vegetable dusts and fibers. Regularly inhaled fumes and gases, infection and heredity may also play an important part in the development of Emphysema. The disease may progress even with intensive treatment and after stopping smoking. However, one hereditary type of Emphysema (Alpha-1-Antitrypsin Deficiency) is treatable with the orphan drug Prolastin. (For more information on this disorder, choose "alpha-1-Antitrypsin" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Infant Respiratory Distress Syndrome consists of mechanical or physical breathing assistance such as positive end expiratory pressure (PEEP). Other treatment is symptomatic and supportive. Exosurf Pediatric is a synthetic lung surfactant which was approved for use in August of 1990 by the FDA for treatment of Infant Respiratory Distress Syndrome. The treatment consists of a single dose given 30 minutes after birth to high risk infants. This synthetic form of lung surfactant is manufactured by Burroughs Wellcome. Survanta developed by Abbott Labs is another pediatric surfactant which is derived from bovine tissues. There is also great improvement in the infants treated with this product. Surfactant TA and Human Surf have both been approved by the FDA for treatment of Infant Respiratory Distress Syndrome. Therapies: Investigational New drugs are being developed to replace the missing surfactant in the lungs of infants with Respiratory Distress Syndrome. A new orphan drug is being tested in the treatment of premature infants weighing less than 1500 grams. Recombinant Human Super-Oxide Dismutase is manufactured by Bio-Technology General Corp. and is for treatment to prevent bronchopulmonary dysplasia in the premature infant. This disease entry is based upon medical information available through July 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Infant Respiratory Distress Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Blood & Lung Institute (NHBLI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 576. CHANGES IN PULMONARY MECHANICS AFTER THE ADMINISTRATION OF SURFACTANT TO INFANTS WITH RESPIRATORY DISTRESS SYNDROME; J.M. Davis, et al.; N Engl J Med (August 25, 1988, issue 319 (8)). Pp.476-479. PULMONARY SURFACTANT REPLACEMENT IN RESPIRATORY DISTRESS SYNDROME. D. Vidyasagar, et al.; Clin Perinatol (December, 1987, issue 14 (4)). Pp. 991-1015. RANDOMIZED CONTROLLED TRIAL OF EXOGENOUS SURFACTANT FOR THE TREATMENT OF HYALINE MEMBRANE DISEASE. J. D. Gitlin, et al.; Pediatrics (January, 1987, issue 79 (1)). Pp. 31-37. Respiratory Distress Syndrome, Infant &pagetitle 618: Respiratory Distress Syndrome, Infant 04176.TXT Copyright (C) 1986, 1987, 1988, 1990, 1991 National Organization for Rare Disorders, Inc. 288: Restless Legs Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Restless Legs Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Ekbom syndrome Wittmaack-Ekbom syndrome Anxietas Tibialis Hereditary Acromelalgia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Restless Legs Syndrome is a hereditary neurological disorder characterized by unusual sensations felt in the legs, usually at night. These feelings cause the patient to constantly move the feet and legs in order to relieve the unbearable sensations. The disorder can be hereditary or it may be a complication of alcoholism, iron deficiency anemia, pregnancy, or diabetes. Symptoms Attacks of Restless Legs syndrome usually begin when the person's legs are at rest, such as when going to bed or sitting still. Deep discomfort occurs between the knee and the ankle. Aching and a sensation of crawling (paresthesias) in the legs occur. Sudden muscle jerks (myoclonic jerks) may also take place. Myoclonic jerks occur in many healthy people just before they fall asleep, but in people with Restless Legs Syndrome they can occur more frequently and while the person is wide awake. The aching and crawling sensations in the legs of people with this syndrome precipitate constant movement of legs and feet in order to relieve the uncomfortable feelings. It is difficult to fall asleep as a result of these symptoms, and once asleep the patient can be awakened by the symptoms. Like many neurological disorders, psychological stress can exacerbate symptoms. Causes Restless Legs Syndrome can be a type of "neuropathy" which is a malfunction of peripheral nerves. (For more information on neuropathy, choose "neuropathy" as your search term in the Rare Disease Database.) The syndrome is often associated with chronic alcoholism, iron deficiency anemia, pregnancy, or diabetes. Some scientists suggest that Restless Legs Syndrome may reflect a mild defect in the way sleep is organized by the brain. In about one-third of cases, this disorder is inherited as an autosomal dominant trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% Affected Population Onset of Restless Legs syndrome usually occurs during adolescence, and in people of both sexes. The syndrome is usually chronic. It often occurs in people with alcoholism, anemia, diabetes, or women who are pregnant. Related Disorders Myoclonus is shock-like contractions of muscles, or a group of muscles. These jerky movements sometimes can be precipitated by loud noises or sudden lights. (For more information on this disorder, choose "myoclonus" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Restless Legs Syndrome is symptomatic. Sometimes relief can be obtained through the application of cold compresses. The anticonvulsant drug clonazepam, the anticonvulsant and analgesic drug carbamazepine, and low doses of a combination of L-dopa and carbidopa have been reported to be effective in treating this disorder in some patients. If the disorder is inherited, genetic counseling may be of help to patients and their families. Therapies: Investigational Research on Restless Legs Syndrome is being conducted by Drs. Arthur Walters and Wayne Hening. Physicians may contact them at: Dept. of Neurology, CN 19 UMDNJ Robert Wood Johnson Medical School New Brunswick, NJ 18903 This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Restless Legs Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Restless Legs Syndrome Support Group 806 River Rd. Orange Park, FL 32073 (904) 264-5712 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 6th ed: Victor A. McKusick, ed.; Johns Hopkins University Press (1983), p. 11. HARVARD MEDICAL SCHOOL HEALTH LETTER: RESTLESS LEGS SYNDROME: (August 1987, Vol. 12, No. 10). P. 2-3. Restless Legs Syndrome pagetitle 288: Restless Legs Syndrome 04177.TXT CzCCopyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 21: Retinitis Pigmentosa _________________________ ** IMPORTANT ** It is possible that the main title of the article (Retinitis Pigmentosa) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms RP Information on the following diseases can be found in the Related Disorders section of this report: Acanthocytosis Laurence-Moon-Biedl Syndrome Choroideremia Refsum Syndrome Usher Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Retinitis Pigmentosa (RP) is one of a group of inherited visual disorders that causes the degeneration of the retina of the eyes. Vision gradually decreases and may eventually be lost. Retinitis Pigmentosa can be associated with deafness and other malfunctions, central nervous system and metabolic disorders, and chromosomal abnormalities. Symptoms Retinitis Pigmentosa usually begins as night blindness followed sometime later by tunnel vision. Symptoms are generally noticed between the age 10 and 40. The rate and extent of progression are widely variable. When other members of a family are affected, the rates of progression are usually similar within that family. Some individuals with Retinitis Pigmentosa are also born deaf (Usher syndrome Type I), or hearing-impaired (Usher syndrome Type II). For more information on Usher Syndrome, see the "Related Disorders" section of this report. Causes Most cases of Retinitis Pigmentosa are isolated, but this disorder may be inherited as a recessive, autosomal dominant, or X-linked genetic trait. At least 32 systemic disorders show some type of retinal involvement similar to Retinitis Pigmentosa. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. At least 32 systemic disorders show some type of retinal involvement similar to Retinitis Pigmentosa. In 1989, mutations on the long arm of chromosome 3 were shown to be associated with 20 percent of families who have autosomal dominant Retinitis Pigmentosa. The gene responsible for early-onset autosomal dominant Retinitis Pigmentosa is thought to be different from the gene that causes late-onset Retinitis Pigmentosa. It is hoped that this knowledge will lead to discovery of chromosome markers or genes that cause other types of Retinitis Pigmentosa. Affected Population Retinitis Pigmentosa affects 1 in 3,000 to 5,000 people in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Retinitis Pigmentosa. Comparisons may be useful for a differential diagnosis: Acanthocytosis is an inherited blood disorder characterized by the presence of malformed red blood cells (acanthocytes) in the circulating blood. This disorder usually begins in the first year of life and is characterized by an impaired ability to coordinate movement (ataxia), Retinitis Pigmentosa and the malabsorption of fat in the digestive system. (For more information on this disorder, choose "Acanthocytosis" as your search term in the Rare Disease Database). Laurence-Moon-Biedl Syndrome is a rare disorder characterized by a decrease in the efficiency of the testes or ovaries (hypogonadism), Retinitis Pigmentosa (degeneration of the retina of the eyes), mental retardation, more than the normal number of fingers (polydactyly), and obesity. Obesity is one of the earliest signs of this disorder. (For more information on this disorder, choose "Laurence-Moon-Biedl" as your search term in the Rare Disease Database). Choroideremia is an inherited vision disorder characterized by extensive defects in the pigmented surface layer of cells in the eye (peripheral retinal epithelium). The major symptoms of this disorder include a progressive loss of the central field of vision and night blindness during childhood. Choroideremia usually affects males; female carriers may have mild symptoms without loss of vision. (For more information on this disorder, choose "Choroideremia" as your search term in the Rare Disease Database). Refsum Syndrome is a slowly progressive inherited disorder of fat (lipid) metabolism that is characterized by the accumulation of phytanic acid in the blood and tissues. The four major features of this disorder are Retinitis Pigmentosa, peripheral neuropathy, impaired ability to coordinate movement (ataxia) and the elevation of protein in the cerebrospinal fluid. (For more information on this disorder, choose "Refsum Syndrome" as your search term in the Rare Disease Database). Usher Syndrome is a group of inherited disorders characterized by night blindness and the loss of vision similar to that seen in Retinitis Pigmentosa, in association with congenital hearing impairment. This syndrome is considered to be separate from other forms of Retinitis Pigmentosa. The two forms of Usher Syndrome are distinguished by the severity of the symptoms and the age at onset. (For more information on this disorder, choose "Usher Syndrome" as your search term in the Rare Disease Database.) Therapies: Standard Retinitis Pigmentosa has no cure at the present time. In cases where cataracts significantly interfere with vision, it may be advisable to remove them surgically. Whether or not surgery helps to improve vision often depends on how far the retinal changes have advanced. Various vision aids help people to make the maximum use of their remaining vision. The visual aids include optical aids such as Corning and NOIR glasses, the Fresnel Prising telescopes, microscopes and night vision devices. There are other non-optical aids that may be useful for patients with Retinitis Pigmentosa. These include the Wide Angle Mobility Light, paper guides, large print typewriters and adjustable stands. The Apollo Laser and Visualtek closed-circuit television may be of assistance in some cases. There are also reading machines and talking computers that can enhance the quality of life for those patients whose vision is severely impaired by Retinitis Pigmentosa. Affected relatives should be examined to determine the pattern of inheritance, the basis for diagnosis, prognosis and genetic counseling. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers at the Cullen Eye Institute of the Baylor College of Medicine in Houston, Texas are studying inherited retinal diseases including Usher Syndrome (Types I and II). Families with at least two affected members and both parents living are needed to participate in this program. Other disorders being included in the study are Leber's Congenital Amaurosis, Macular Degeneration and Polymorphic Macular Degeneration, Laurence-Moon-Biedl Syndrome, and Rod Monochromacy (Complete Congenital Achromatopsia). Other inherited retinal disorders of interest to the Baylor researchers include blue cone monochromacy (Congenital Incomplete X-linked Achromatopsia), Choroideremia, the Oculo-Cerebro-Renal Syndrome of Lowe, Hereditary X-linked cataracts, and other hereditary diseases with significant visual impact. At the present time, scientists investigating the orphan drug Cronnassial as a possible treatment for some symptoms of Retinitis Pigmentosa. Physicians who would like more information on this treatment may contact: Fidia Pharmaceutical 1775 K Street, NW Suite 800 Washington, D.C. 20006 Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Retinitis Pigmentosa, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Retinitis Pigmentation Foundation Fighting Blindness 1401 Mt. Royal Avenue, 4th Floor Baltimore, MD 21217 (800) 638-2300 (301) 225-9400 TDD (301) 225-9409 (for the deaf) NIH/National Eye Institute (NEI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 For services to blind people, please contact: American Council of the Blind, Inc. (ACB) 1211 Connecticut Avenue, N.W., Suite 506 Washington, D.C. 20036 (202) 833-1251 (800) 434-8666 The American Council of the Blind is a national membership organization dedicated to improving living conditions of the blind and visually impaired. The council provides legal services and periodic training workshops, conducts legislative activities, and maintains 16 occupational and special interest affiliates, as well as 51 state affiliates. Their monthly publication is entitled "The Braille Forum." American Foundation for the Blind (AFB) 1010 Vermont Ave., Suite 1100 New York, NY 10011 (212) 393-3666 American Foundation for the Blind provides information and services in the areas of rehabilitation, orientation and mobility, employment, low vision, legislative issues, aging, children and youth, radio information services, recreation, education and research. Many catalogs, informational brochures are free. The Foundation also publishes books, monographs and periodicals in print, recording, and braille. They manufacture and record talking books as well as develop, manufacture and sell aids and appliances for blind and visually impaired people. American Printing House for the Blind P.O. Box 6085 Louisville, KY 40206-0085 (502) 895-2405 The American Printing House for the Blind produces educational aids and literature for the visually impaired, braille and talking book editions of several magazines, braille books, music and large-type texts. They also manufacture special educational aids for the blind and visually impaired as well as maintain a reference catalogue service for students. National Association for Parents of the Visually Impaired (NAPVI) 3329 Northaven Road Dallas, TX 75229 (214) 358-1995 The National Association of Parents of the Visually Impaired is a non-profit membership organization comprised of agencies and parents dedicated to providing support to families with children who have visual impairments. They develop local and state groups and workshops. They also function as a national clearinghouse for information, referral and education. National Association for Visually Handicapped (NAVH) 305 East 24th Street New York, NY 10010 (212) 889-3141 or 3201 Balboa Street San Francisco, CA 94121 (414) 221-3201 The National Association of Visually Handicapped is as association providing youth and adult services, large print publishing, library services, visual and audio information, public and professional education and special services to senior citizens. They also serve as an advocate for partially sighted, and offer demonstration and pilot programs for youth in San Francisco. There are adult discussion and counseling programs in San Francisco and New York, and a Career Planning/Job Seeking Workshop in New York. National Federation of the Blind (NFB) 1800 Johnson Street Baltimore, MD 21230 (301) 659-9314 (800) 638-7518 (Job Opportunities for the Blind) The National Federation of the Blind is a membership organization with state and local chapters providing information concerning rights of the blind, program development, and job opportunities for the Blind (an employment placement and training program). The Federation publishes "The Braille Monitor" on a monthly basis as well as other publications. Advocacy and legal representation are provided through the Federation. Local projects are underway to improve conditions for visually impaired people. National Library Service for the Blind and Physically Handicapped Library of Congress 1291 Taylor Street, NW Washington, DC 20542 (202) 287-5100 The National Library Service for the Blind and Physically Handicapped heads a national network of 160 cooperating libraries housing extensive collections. They lend braille books, talking books and magazines and also publish regular catalogues which may be obtained as recorded audio tapes, as large printed text, or in braille. They also provide talking-book machines and accessories as well as large print music and recorded music instructional material. All material is free on loan and no postage is required. The user must be certified by a professional authority as unable to read standard print material because of visual or physical impairment. Recording for the Blind, Inc. (RFB) 215 East 58th Street New York, NY 10022 (212) 751-0860 Recording for the Blind provides recorded educational textbooks to visually, physically and perceptually handicapped students at all grade levels, and also to professionals. There are over 58,000 titles in the library catalogue. This organization has 5,000 specially trained volunteers and 28 recording centers. Their services are free to medically certified registered borrowers. References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 2234. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2236, 2292-3. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 974-975. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1485-1486. CLINICAL OPHTHALMOLOGY, 2nd Ed.; Jack J. Kanski, Editor; Butterworth-Heinemann, 1990. Pp. 372-374. MOLECULAR GENETICS OF RETINITIS PIGMENTOSA, D.B. Farber et al.; West J Med (Oct 1991; 155(4)): Pp. 388-399. RETINITIS PIGMENTOSA, R.A. Pagon; Surv Ophthalmol (Nov-Dec 1988; 33(3)): Pp. 137-177.137-177. Retinitis Pigmentosa Dpagetitle 21: Retinitis Pigmentosa 04178.TXT Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 289: Retinoblastoma _________________________ ** IMPORTANT ** It is possible the main title of the article (Retinoblastoma) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Retina, Glioma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Retinoblastoma is a very rare, congenital malignant tumor that develops in nerve cell layers of the eye. Symptoms Retinoblastoma is usually diagnosed before the age of 2 years when the eyes squint or cross (strabismus), or when a gray to yellow reflex from the pupil ("cat's eye") is investigated. Both eyes must be carefully investigated ophthalmoscopically with the pupils widely dilated. The tumors appear to the examining physician as gray-yellow elevations on the retina. The beginning of tumors (tumor "seeds") may be visible in the vitreous body of the eye. In some, calcification in the tumors can be detected radiographically, especially with a CT scan. Causes Although most Retinoblastomas appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) "Incomplete penetrance" means that the severity of the disorder is determined by the degree to which the defect has produced abnormalities. Retinoblastoma occurs frequently in patients with D group chromosomal abnormalities. If a child inherits a gene predisposing it to get Retinoblastoma, a second event must take place before Retinoblastoma occurs. The nature of this second event is unknown, but research is underway to determine which factors (e.g. environmental triggers such as a virus) can precipitate onset of this disorder. Recently, scientists isolated a gene (on chromosome number 13) that appears to prevent retinoblastoma. Researchers have cloned or pinpointed the first of a class of genetic switches, called recessive oncogenes, that normally keep cancer from occurring. Experts believe there are two kinds of oncogenes: those that cause cancer by their presence, and those that cause it by their absence. Both types are mutant or incomplete versions of ordinary genes that normally regulate cell growth. One kind is dominant and causes out-of-control growth (cancer). Recessive oncogenes normally limit or stop the growth of cells. When they are lost, cells can proliferate wildly, causing cancer. When the normal gene is present, they appear to prevent cancer from developing. This genetic discovery is potentially very important in the understanding of many types of cancer. Affected Population Retinoblastoma occurs in one in every 15,000 to 30,000 live births. It represents about 2% of childhood malignancies. It occurs in both eyes in about 30% of cases. Children face a high risk of getting rare forms of bone cancer (osteosarcoma) and eye cancer (retinoblastoma) if, through some inherited mix-up, they are born without a complete copy of a certain type of gene, called recessive oncogene. Retinoblastoma is the most common form of eye cancer in children, affecting approximately five hundred children in the United States. Because the same gene is involved in both disorders, youngsters who get retinoblastoma appear to be susceptible to osteosarcoma. Therapies: Standard When Retinoblastoma occurs in one eye, it is usually managed by excision of the tumor and eye (enucleation) and removal of some of the optic nerve. In cases where both eyes are affected, the more involved eye often is enucleated and the other eye may be treated by photocoagulation, cold therapy (cryotherapy), radiation, or systemic antimetabolites. Often a combination of these treatments is used. Ophthalmological reexamination of both eyes is usually required at about 2-month intervals. Radiologic surveys for bony metastases and studies of spinal fluid and bone marrow for malignant cells, may be conducted until all viable tumor is destroyed. Siblings and other family members should also be examined. Therapies: Investigational Genetic probes (synthetic genes) that seek out their natural counterparts in human genetic material, can locate individual genes within the 50,000 to 100,000 human genes that control the human body's functions. Currently such probes are being used experimentally on newborn babies who may be genetically predisposed to Retinoblastoma. This procedure may lead to earlier diagnosis, and perhaps help to determine which factors serve to precipitate onset of the disorder in genetically susceptible children. This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Retinoblastoma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 New England Retinoblastoma Support Group 603 Fourth Range Rd. Pembroke, NH 03275 (603) 224-4085 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References RETINOBLASTOMA AND CANCER GENETICS (Editorial); F. Gilbert: New England Journal of Medicine, 314 (19): May 5, 1986. Pp. 1248-9. Retinoblastoma] pagetitle 289: Retinoblastoma 04179.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 327: Retinopathy, Arteriosclerotic _________________________ ** IMPORTANT ** It is possible the main title of the article (Arteriosclerotic Retinopathy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Arteriosclerosis, Retina General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Arteriosclerotic Retinopathy is a series of changes in the retina that are caused by arteriosclerosis. It is characterized by bleeding in the retina, thick fluid oozing from the retina, impaired oxygenation of the retina, an abrupt reduction of blood flow to the heart muscle which may cause dying off of tissue (myocardial infarction), and hardening of the walls of the little arteries (arterioles) in the eye. These degenerative changes can cause vision impairment. Symptoms In Arteriosclerotic Retinopathy the opening (lumen) of the little arteries (arterioles) in the retina is irregular. The retina is the layer of the eyeball that contains the light sensitive nerve cells. This layer also contains a large number of little blood vessels. This disorder causes thickening of the arterial walls which in turn causes the arterioles to become contorted. Flame shaped or pinpoint spots of bleeding may also occur, although they are apparent only during examination of the eye with an ophthalmoscope. The retina may show oozing of thick liquid, and dying tissue (necrosis) in certain spots. The place where the optic nerve enters the retina (optic disk or papilla) as seen by the ophthalmologist, may be blurred. The retina may become detached, and arterial spasm may occur. Eventually internal bleeding or clotting (thrombosis) of the central vein and withering away (atrophy) of the retina may result, which can cause progressive vision impairment. Causes Arteriosclerotic Retinopathy usually occurs as a result of progressive hardening of the blood vessels by calcification and loss of elastic tissue (arteriosclerosis). Arteriosclerosis is a general term which includes a number of blood vessel diseases such as fatty degeneration of the arteries (atherosclerosis), and may also include changes in the shape of the arteries. With age, the blood vessels often become more contorted and less elastic. Certain biochemical, physical and environmental factors, known as risk factors may predispose an individual to arteriosclerosis. Affected Population Arteriosclerotic Retinopathy affects persons with fatty degeneration (atherosclerosis), and hardening of the arteries (arteriosclerosis). This type of Retinopathy usually affects people over age 50 years Related Disorders Hypertensive Retinopathy is a syndrome of changes in the retina caused by hypertension. It is characterized by progressive changes in the little arteries (arterioles) of the eye and swelling (edema), resulting in vision impairment. (For more information, choose "hypertensive retinopathy" as your search term in the Rare Disease Database.) Papilledema (Choked Disk) is a swelling (edema) of the portion of the retina where the optic nerve enters the eyeball. The swelling is due to increased pressure inside the skull that may be caused by a variety of conditions. Therapies: Standard Therapy for Arteriosclerotic Retinopathy consists of treating the underlying arteriosclerosis. An excess of lipids in the blood (hyperlipidemia) can be prevented by changes in dietary habits. Fat intake should be reduced, and saturated fats should be replaced with polyunsaturated fats. The intake of cholesterol, saturated and short-chain fatty acids (such as those in meats or dairy products), should be reduced. Weight reduction to normal, or even slightly under current statistical norms, is recommended. Drugs may be required in certain patients to reduce blood cholesterol and lipids. Prevention of arteriosclerosis is possible by good control of diabetes when present, and by weight loss if obesity is a factor. Cigarette smoking may also aggravate arteriosclerosis and should be limited or stopped. Regular exercise may be a helpful therapeutic measure. Hypertension should be identified and treated early. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Arteriosclerotic Retinopathy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Eye Research Institute of the Retina Foundation 20 Staniford Street Boston, MA 02114 (617) 742-3140 American Foundation for the Blind (AFB) 1010 Vermont Ave., NW, Suite 1100 New York, NY 10011 (202) 393-3666 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-530 References CURRENT MEDICAL INFORMATION AND TERMINOLOGY, 5th ed: Asher J. Finkel, et. al., eds; American Medical Association, 1981. Pp. 392, 2011. Retinopathy, Arteriosclerotic pagetitle 327: Retinopathy, Arteriosclerotic 04180.TXT Copyright (C) 1986, 1987, 1989, 1992, National Organization for Rare Disorders, Inc. 316: Retinopathy, Diabetic _________________________ ** IMPORTANT ** It is possible the main title of this article (Diabetic Retinopathy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Insulin-Dependent Diabetes Type II Diabetes (Non-Insulin Dependent Diabetes Mellitus General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Diabetic Retinopathy is a disorder of the light sensitive tissue of the eye (retina) caused by diabetes. This condition is characterized by pathologic changes in the blood vessels of the retina. Unchecked, it may lead to visual impairment or blindness. Symptoms In Diabetic Retinopathy the retina becomes damaged as a consequence of diabetes. The tiny blood vessels of the retina undergo pathologic changes. During the earliest stages of this retinopathy no changes are visible to the ophthalmologist. Sometimes diabetes can also cause a change in the focusing power of the eye. Untreated, this condition can lead to vision impairment or blindness. (For more information, choose "Diabetes" as your search term in the Rare Disease Database, and see related articles in the Prevalent Health Conditions/Concerns section of NORD Services (rdb-4.) Causes The earliest changes in the retina of diabetic people involve a reduction in blood flow and velocity. Later, in more advanced stages of Diabetic Retinopathy these changes can evolve into significantly increased blood flow along with development of physical abnormalities within the small vessel network of the retina. Affected Population Approximately 40% of all people with diabetes show at least mild signs of Diabetic Retinopathy. About 3% of patients with diabetes have suffered severe visual loss and blindness because of this disorder. Related Disorders Insulin-Dependent Diabetes is a disorder in which the body does not produce enough insulin. The disorder, which affects more females than males, is hereditary. (For more information on this disorder, choose Insulin-Dependent Diabetes" as your search term in the Rare Disease Database.) Type II Diabetes (Non-Insulin-Dependent Diabetes Mellitus) is the more common form of the disorder. Also known as Adult Onset Diabetes, it usually occurs after the age of 40 years. This type of diabetes is not secondary to other diseases or conditions. In many cases, the disorder can be controlled through diet, and, sometimes, with oral medication (e.g. Diabenese, or chlorpropamide), and regular exercise. For more information on diabetes, choose "diabetes" as your search term in the Rare Disease Database, and see related articles in the Prevalent Health Conditions/Concerns area of NORD Services. Therapies: Standard Normalization of glucose levels in diabetic patients can help reverse changes in the small blood vessels of the eye. It is vital that people with diabetes have regular medical and ophthalmologic checkups to avoid onset of Diabetic Retinopathy. If normal glucose levels can be maintained, this complication of diabetes may be avoided. Treatment with a laser can reduce the risk of visual loss from Diabetic Retinopathy in many cases. During this treatment, called photocoagulation, powerful beams of light from a laser are aimed at many spots on the diseased retina. In most cases, this treatment can interrupt the disease process and prevent the development of additional retinal abnormalities. Some patients may experience unwanted side effects such as decreased central and side vision. Therapies: Investigational In case of massive bleeding inside the eye, ophthalmologists can remove the blood and scar tissue from the center of the eye with special surgical instruments. This experimental procedure is called vitrectomy. In some cases vision may improve enough for patients to move around unaided, and occasionally to resume reading or driving. However, more research is needed to determine the longterm effects of this procedure on Diabetic Retinopathy. Additionally, investigations with a new drug, sorbinil, are underway to establish if the drug can prevent eye and nerve damage in diabetics who do not yet have retinopathy. Clinical trials are underway to study suppression of Growth Hormone and IGFI with Octreotide for prevention of progression of Diabetic Retinopathy. Interested persons may wish to contact: Maria Grant, M.D. J-226 Shands Teaching Hospital Jay Hillis Miller Health Center University of Florida Gainsville, FL 32601 (904) 392-2613 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Diabetic Retinopathy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Diabetes Association National Service Center 1660 Duke St. Alexandria, VA 22314 (703) 549-1000 (800) ADA-DISC Juvenile Diabetes Foundation International 60 Madison Avenue, 4th Floor New York, NY 10010 (212) 889-7575 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5583 American Foundation for the Blind (AFB) 1010 Vermont Ave., Suite 1100 New York, NY 10011 (202) 395-3666 National Association for the Visually Handicapped 305 East 24th Street, Room 17-C New York, NY 10010 (212) 889-3141 Vision Foundation, Inc. 2 Mt. Auburn Street Watertown, MA 02172 (617) 926-4232 Eye Research Institute of Retina Foundation 20 Staniford St. Boston, MA 02114 (617) 742-3140 References U.S. Department of Health and Human Services. Public Health Service. National Institutes of Health. NIH Publication No. 85-2171: Diabetic Retinopathy. Retinopathy, Diabetic pagetitle 316: Retinopathy, Diabetic 04181.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 328: Retinopathy, Hypertensive _________________________ ** IMPORTANT ** It is possible the main title of the article (Hypertensive Retinopathy) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Information on the following diseases can be found in the Related Disorders section of this report: Papilledema General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hypertensive Retinopathy is a syndrome of changes in the retina caused by high blood pressure (hypertension). It is characterized by progressive changes in the little arteries (arterioles) of the eye and swelling (edema), resulting in impairment of vision. Symptoms During the early stages of Hypertensive Retinopathy, constriction of the arterioles of the retina occurs. As the disease progresses, superficial flame-shaped hemorrhages and spots that look like cotton wool (white or grey foci) appear in the eye. During the latter stages of the disorder, the optic disc, as seen by ophthalmoscopic examination, may appear to be slightly blurred or swollen (papilledema). Causes Hypertensive Retinopathy occurs as a result of high blood pressure over a long period. In some cases it may occur in pregnant women (eclampsia or preeclampsia). Affected Population Hypertensive Retinopathy affects persons with chronic essential hypertension. If untreated, the blood pressure usually rises with age and the retinopathy tends to become more severe up to the age of 50 years. Severe hypertensive retinopathy is more common in the black population. In Hypertensive Retinopathy in pregnant women (Eclampsia or Preeclampsia), the incidence is usually higher in women of African ethnic heritage, persons from lower socioeconomic groups, persons in the southeastern part of the United States, and people who live in the Philippines. Related Disorders Papilledema (Choked Disk) is a swelling (edema) of the portion of the retina where the optic nerve enters the eyeball. The swelling is due to increased pressure inside the skull that may be caused by a variety of conditions. Therapies: Standard Therapy for Hypertensive Retinopathy consists of treating the underlying hypertension with antihypertensive drugs. If the blood pressure can be kept under control, this condition may not develop or be reversed. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hypertensive Retinopathy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Eye Research Institute of the Retina Foundation 20 Staniford Street Boston, MA 02114 (617) 742-3140 American Foundation for the Blind (AFB) 1010 Vermont Ave., NW, Suite 1100 New York, NY 10011 (202) 393-3666 American Heart Association 7320 Greenville Ave., Dallas, TX 75231 (214) 750-5300 References MERCK MANUAL OF DIAGNOSIS AND THERAPY: Robert Berkow, et al, eds; Merck, Sharp & Dohme Research Laboratories, 1982. Pp. 392, 2011. Retinopathy, Hypertensive pagetitle 328: Retinopathy, Hypertensive 04182.TXT 2Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 517: Retinoschisis _________________________ ** IMPORTANT ** It is possible the main title of the article (Retinoschisis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Congenital Retinal Cyst Congenital Vascular Veils in the Retina Giant Cyst of the Retina Vitreoretinal Dystrophy DISORDER SUBDIVISIONS: Retinoschisis, Typical (Blessig Cysts; Iwanoff Cysts; Peripheral Cystoid Degeneration of the Retina) Retinoschisis, Juvenile (Familial Foveal Retinoschisis; Congenital Retinoschisis) Retinoschisis, Senile Information on the following disease may be found in the Related Disorders section of this report: Macular Degeneration General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Retinoschisis means splitting of the eye's retina into two layers. The various forms of this disorder can be inherited or acquired. The disorder is characterized by a slow progressive loss of parts of the field of vision corresponding to the areas of the retina which have become split. Often, Retinoschisis is associated with the development of saclike blisters (cysts) in the retina. Symptoms Retinoschisis is characterized by splitting of the eye's retina into two layers, accompanied by the formation of cysts. The disorder occurs in the following forms: Typical Retinoschisis: This form of the disorder usually occurs among males who are farsighted (hyperopic). Frequently, splitting of the retina occurs in both eyes symmetrically. Splitting may begin in the lower or upper quarter of the retina located toward the temples. Vision is impaired correspondingly. To an ophthalmologist looking into the eye with an ophthalmoscope, the lesion appears as a thin, transparent, veil-like membrane extending up as a dome into the glass-like inside of the eyeball (vitreous). This membrane contains the blood vessels of the retina and often has small white dots (opacities). Defective vision in bright light (hemeralopia) may also occur. The progression of splitting and vision loss often stops for many years. However, in some cases the progression may occur faster. Senile Retinoschisis: This form of the disorder is similar to Typical Retinoschisis but it usually occurs in older patients, often without apparent symptoms. Both eyes are affected in 90% of cases. Symptoms may develop because of the flowing together (coalescence) of peripheral sacs (Blessig Cysts; Iwanoff Cysts). In the early stage, the cystic space is spanned by thin grey fibers which gradually break. This allows the inner and outer leaves of the retina to separate, forming an elevated cyst. In Senile Retinoschisis, the split may extend all the way around the edge of the retina. However, it does not usually progress to the back of the retina and may remain unchanged for many years. Juvenile Retinoschisis: This form of the disorder is the most serious type of Retinoschisis. It is a slowly progressive genetic disorder occurring among young males. Splitting of the retina often extends back over the area near the center of the visual field (macula). Retinoschisis may affect the center of the macula (called the "fovea"), which is the area of clearest vision. In the early stages, the areas of the retina that are splitting often exhibit large holes in the anterior leaf between blood vessels, and if breaks develop in both the front and the back layer of the retina, a true retinal detachment may occur causing loss of parts of the field of vision. A completely blind area (scotoma) with a sharp edge in the area where splitting (schisis) occurs is evident in the patient's visual field. The recording of electric impulses from the eye's retina (electroretinogram; or ERG) shows waves which are markedly lower than normal, but not obliterated. Patients with Juvenile Retinoschisis often have cystic macular degeneration which causes additional loss of vision. Causes Typical Retinoschisis is usually an autosomal dominant genetic disorder. Senile Retinoschisis is usually an autosomal recessive genetic disorder. Juvenile Retinoschisis is a sex-linked hereditary disorder. Acquired cases of Retinoschisis occur with aging for unknown reasons. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Typical Retinoschisis usually occurs in young males who are farsighted. Senile Retinoschisis usually affects persons in their 50's, 60's or 70's. It affects males and females in equal numbers. Juvenile Retinoschisis is a rare disorder, affecting only boys. However, there are very rare exceptions which occur when a girl is born to a mother who is a carrier of the disorder and an affected father. This form of the disorder is present at birth, and symptoms progress with time. Related Disorders Symptoms of the following disorder may be similar to those of Juvenile Retinoschisis. Comparisons may be useful for a differential diagnosis: Macular Degeneration is a common hereditary disorder of the eye's retina characterized by a gradual bilateral decrease of vision. Macular degeneration can be a static condition for many years but then it becomes slowly progressive. An area of impaired vision (central scotoma) within the visual field, surrounded by a peripheral area of normal vision, is also symptomatic of this disorder. A vision disturbance in which shapes seem distorted or changing (metamorphopsia) can also occur. (For more information on this disorder, choose "Macular Degeneration" as your search term in the Rare Disease Database.) Therapies: Standard Diagnosis of Retinoschisis can be made through various tests: Measuring visual acuity with the Snellen chart, the patient is asked to look through a pinhole to determine where on the retina a lesion may exist. Ultrasonography or ultrasound may show abnormalities when a hemorrhage has occurred in the eye. A recording of the electrical impulses emitted by the retina in response to light stimulus (electroretinogram; ERG) can be made. These ERG's can indicate abnormalities of the retina. A Visual Evoked Response (VER) measures slow electric potentials from the brain cortex in response to light stimulation. The VER depends on the integrity of the entire visual system from the cornea to the occipital part of the brain's cortex. The VER is a good objective test to detect the function of the macular portion of the retina which controls central vision. Electro-oculography (EOG) is another electrophysiological test to determine the function of the retina, mainly the nerve cells that respond to light stimuli (receptors). A photographic picture made with an ophthalmoscope of the back portion of the inside of the eyeball (fundus) is another way to gather information about the retina. When a child cannot tolerate the dilation of the eye's pupil and the bright light used for some of these tests, general anesthesia may be necessary. Typical and Senile Retinoschisis usually do not require medical treatment. In children with Juvenile Retinoschisis, when bleeding occurs within the eyeball, keeping the eye still helps to settle the blood. Later, treatment with laser or cold (cryotherapy) can be applied to close off the damaged area of the retina. It is imperative to avoid jarring the head or inflicting injury to the eye to slow down the degenerative process of Juvenile Retinoschisis. With treatment, the person with Juvenile Retinoschisis usually retains functional vision. Genetic counseling is recommended for families of children with Juvenile Retinoschisis. Therapies: Investigational This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Retinoschisis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Association for Macular Diseases 210 East 64th Street New York, NY 10021 (212) 605-3719 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 National Association for the Parents of the Visually Impaired, Inc. (NAPVI) P.O. Box 180806 Austin, TX 78718 (512) 459-6651 National Association for the Visually Handicapped 305 East 24th Street New York, NY 10010 (212) 889-3141 Eye Research Institute of Retina Foundation 20 Staniford Street Boston, MA 20114 (617) 742-3140 Retinitis Pigmentosa Foundation Fighting Blindness 1401 Mt. Royal Avenue, 4th Floor Baltimore, MD 21217 (301) 225-9400 (800) 638-2300 Vision Foundation, Inc. 818 Mt. Auburn Street Watertown, MA 02172 (617) 926-4232 (800) 852-3029 (within MA) American Foundation for the Blind (AFB) 15 W. 16th St. New York, NY 10011 (212) 620-2000 Regional offices: Atlanta, GA (404) 525-2303 Chicago, IL (312) 245-9961 Dallas, TX (214) 352-7222 San Francisco, CA (415) 392-4845 American Council of the Blind, Inc. (ACB) 1155 - 15th St., NW, Suite 720 Washington, D.C. 20005 (202) 467-5081 (800) 424-8666 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1236-1237. DEGENERATIVE RETINOSCHISIS WITH GIANT OUTER LAYER BREAKS AND RETINAL DETACHMENT: J.M. Sulonen, et al.; American Journal Ophthalmol (February 15, 1985: issue 99(2)). Pp. 114-121. INDICATIONS FOR VITRECTOMY IN CONGENITAL RETINOSCHISIS: J. Schulman, et al.; British Journal Ophthalmol (July 1985: issue 69(7)). Pp. 482-486. X-LINKED RETINOSCHISIS IS CLOSELY LINKED TO DXS41 AND DXS16 BUT NOT DXS85: T. Alitalo, et al.; Clin Genet (September 1987: issue 32(3)). Pp. 192-195. VASCULARIZED VITREOUS MEMBRANES IN CONGENITAL RETINOSCHISIS: D.F. Arkfeld, et al.; Retina (Spring 1987: issue 7(1)). Pp. 20-23. Retinoschisis 3pagetitle 517: Retinoschisis 04183.TXT Copyright (C) 1986, 1988 National Organization for Rare Disorders, Inc. 231: Retrolental Fibroplasia _________________________ ** IMPORTANT ** It is possible the main title of the article (Retrolental Fibroplasia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article Synonyms Retinopathy of Prematurity RLF ROP General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Retrolental Fibroplasia is a bilateral eye disorder characterized by abnormality of the retinal vessels. It occurs in premature infants with immature retinas who are exposed to oxygen in an incubator, and possibly to bright lights. The degree of sight impairment appears to be relative to the oxygen levels in incubators. Oxygen levels of 30% or more can cause more severe vision impairment. Symptoms Infants affected with Retrolental Fibroplasia are born prematurely, usually weighing less than 1500 gram (about 3 lbs.) at birth and are consequently placed in incubators. If too much oxygen is fed into the incubator, it results in initial constriction of the retinal blood vessels. Then obliteration of the small blood vessels occurs, especially in the temporal retinal periphery. This may be followed by the formation of new blood vessels. If severe, fibrovascular invasion of the vitreous or glass-like body of the eyeball, and retinal detachment may result. If mild, the abnormal vessels may regress and retention of useful vision is possible. Delayed scar changes occur in some infants during the first year, resulting in dragging of the retinal vessels and macula into a temporal retinal fold. Nearsightedness (myopia) is common. Other associated problems include glaucoma, retinal detachment (which causes blindness), or mental retardation (due to premature birth). Causes Retrolental Fibroplasia is caused by a premature infant's exposure to oxygen when blood vessels in the retina are already damaged or too immature. Other factors such as bright lights and even the oxygen normally present in the atmosphere may cause damage to the retina and therefore impair the infant's sight. Affected Population Retrolental Fibroplasia causes vision loss in approximately 2,600 American infants annually, and blindness in approximately 650. Premature infants who are exposed to a high concentration of oxygen after birth may develop Retrolental Fibroplasia. This condition affected numerous children born during the 1950's. After the cause was discovered, hospitals have reduced the amount of oxygen given to babies in incubators. As a result, the incidence of the disorder was significantly reduced. Therapies: Standard Careful monitoring of the amount of oxygen used in the incubator is needed to minimize the incidence of Retrolental Fibroplasia as a complication of prematurity. The lowest concentration necessary for maintenance should be used. The ocular danger increases as the oxygen concentration is increased beyond 30%. An ophthalmologist should be consulted not only by the neonatologist, but also in later years so that long-term complications can be diagnosed and treated. A recently developed surgical procedure called open sky vitrectomy is used to repair a damaged or detached retina in an infant with Retrolental Fibroplasia. Extra small instruments have been developed for this surgery at the Eye Research Institute of Retina Foundation in Boston. This procedure is currently 38% successful. For evaluation of visual function, tests have been developed to measure the electrical responses made by the retina, the optic nerve, and the visual centers in the brain. The visually evoked response (VER), is evoked by changing light patterns. The electrical signals sent to the brain during this response are measured and registered in an electroretinogram. Therapies: Investigational Researchers are investigating cryotherapy as a possible treatment for Retrolental Fibroplasia. Cryotherapy requires physicians to apply a probe cooled to minus eighty degrees Celsius (minus 179 degrees Fahrenheit) to the white area of the eye at points in front of the normal tissue line. The probe destroys cells at 50 or so points and forms a ring of scar tissue to prevent further abnormal growth of blood vessels. Researchers do not fully understand why freezing part of the undeveloped retina of the eye helps normal development. More testing is necessary to determine long-term effects of the treatment. This disease entry is based upon medical information available through September 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Retrolental Fibroplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 National Association for Parents of the Visually Impaired, Inc. P.O. Box 180806 Austin, TX 78718 (512) 459-6651 National Association for the Visually Handicapped 305 East 24th Street, Room 17-C New York, NY 10010 (212) 889-3141 Eye Research Institute of Retina Foundation 20 Staniford St. Boston, MA 02114 (617) 742-3140 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2297. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1854. Retrolental Fibroplasia pagetitle 231: Retrolental Fibroplasia 04184.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 849: Retroperitoneal Fibrosis _________________________ ** IMPORTANT ** It is possible that the main title of the article Retroperitoneal Fibrosis) is not the name you expected. Please check the Synonym listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Idiopathic Retroperitoneal Fibrosis Ormonds Disease Information on the following diseases can be found in the Related Disorders section of this report: Carcinoid Syndrome Scleroderma Vasculitis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Retroperitoneal Fibrosis is a rare disorder in which there is a formation of fiber-like tissue behind the membrane that lines the cavity of the abdomen (peritoneum). This abnormal tissue growth usually affects the tubes that carry the urine from the kidney to the bladder (ureters). Often these tubes are blocked by the excess tissue. In most cases the cause of this disorder is unknown. Symptoms The most common symptom of Retroperitoneal Fibrosis is pain in the lower back or abdomen. In many cases this pain is vague and difficult to localize. Other symptoms may be weight loss, fever, nausea, a low level of red blood cells (anemia), and loss of appetite. Impaired movement of a limb may occur intermittently and yellow pigmentation of the skin (jaundice) may be present. Occasionally there may be bleeding in the stomach and intestine. In about ten percent of the cases there may be difficulty urinating. Upon examination by a physician, a mass can be felt in the rectum or abdomen in about fifteen percent of patients with this disorder. In some patients the largest vein in the body that returns blood to the heart (inferior vena cava) may be encased by the fibrous tissue. This encasement rarely causes obstruction of the vein. Complications of Retroperitoneal Fibrosis may be high blood pressure (hypertension) as well as blood vessel blockage. In some rare cases Retroperitoneal Fibrosis may become malignant. Causes The exact cause of Retroperitoneal Fibrosis is not known in about two-thirds of the patients. A drug used in the treatment and prevention of migrane headaches (methysergide) may be the cause of this rare disorder in twelve percent of the cases. Malignant tumors are associated with Retroperitoneal Fibrosis in eight percent of the patients. Tissue that has been injured by trauma or surgery may be a factor in some cases. Affected Population Retroperitoneal Fibrosis affects males twice as often as females. Seventy percent of the patients with this disorder are in their fifth to seventh decade of life. Retroperitoneal Fibrosis can affect children but it is very rare. Related Disorders Symptoms of the following disorders can be similar to those of Retroperitoneal Fibrosis. Comparisons may be useful for a differential diagnosis: Carcinoid Syndrome is a rare, malignant disorder that affects the small bowel, pancreas, and/or stomach. Slow growing tumors can spread to the lungs, liver and ovary. Symptoms of this disorder may include flushing, diarrhea, wheezing, stomach pain, and blockage of arteries. (For more information on this disorder, choose "Carcinoid " as your search term in the Rare Disease Database). Scleroderma is a group of chronic disorders characterized by fiber-like tissue growth (fibrosis), degenerative changes, and vascular abnormalities of the skin. Scleroderma is the hardening and shrinking of the connective tissues of any part of the body. (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). Vasculitis is an inflammation of the blood vessel system which includes the veins, arteries and capillaries. This disorder may occur alone or in conjunction with allergic and rheumatic diseases. Symptoms of this disorder may be formation of blood clots, weakening of vessel walls, muscle pain, joint pain, fever, weight loss, loss of appetite, abdominal pain and shortness of breath. (For more information on this disorder, choose "Vasculitis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Retroperitoneal Fibrosis depends on the location and extent of the tissue growth. Surgery is often very successful in freeing an organ that has been constricted by Retroperitoneal Fibrosis. Steroid drug therapy may be used along with surgery, or in patients who are at high risk if surgery is performed. In other cases this disorder can subside on it's own with no treatment needed. Therapies: Investigational Retroperitoneal Fibrosis has been treated successfully with the drug Azathioprine in a few cases. Another drug, Progesterone, has been used in Latin America for the treatment of Retroperitoneal Fibrosis. More research is needed to determine the safety and effectiveness of these experimental treatments. This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Retroperitoneal Fibrosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203-746-6518 National Kidney Foundation 2 Park Avenue New York, NY 10016 212-889-2210 National Digestive Diseases Information Clearinghouse P.O. Box NDDIC Bethesda, MD 20892 301-468-6344 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, Editor-In-Chief; Little, Brown and Co., 1987. Pp. 455-56. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 273. IDIOPATHIC RETROPERITONEAL FIBROSIS--IS SERUM ALKALINE PHOSPHATASE A MARKER OF DISEASE ACTIVITY: I.G. Barrison, et al.: Postgrad Med J; (Mar 1988, issue 64(749)). Pp. 239-41. NON-OPERATIVE MANAGEMENT OF RETROPERITONEAL FIBROSIS: P.M. Higgins, et al.: Br J Surgery; (June 1988, issue 75(6)). Pp. 573-7. IDIOPATHIC RETROPERITONEAL FIBROSIS--AN UPDATE: P.M. Higgins, et al.: Dig Dis; (1990, issue 8(4)). Pp. 206-22. Retroperitoneal Fibrosis pagetitle 849: Retroperitoneal Fibrosis 04185.TXT Copyright (C) 1986, 1987, 1988, 1991, 1992 National Organization for Rare Disorders, Inc. 182: Rett Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Rett Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cerebroatrophic Hyperammonemia Information on the following disorders can be found in the Related Disorder section of this report. Autism Cerebral Palsy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rett Syndrome is a progressive degenerative syndrome which has some characteristics similar to autism. It is characterized by developmental regression or loss of previously acquired skills. Rett Syndrome appears to occur primarily in females, however, some males do have Rett's Syndrome. Symptoms Rett Syndrome initially manifests signs of developmental regression leading to mental and physical retardation. The children lose purposeful movements of their hands, and they may rub their hands together in front of their face or chest similar to the motion of "handwashing". If the child is walking, she does so with a broad-based gait. Slowing of head growth rate is noted with increasing age. Many children have episodes of hyperventilation and/or breath holding. Causes Rett Syndrome is suspected to be a genetic disorder. The mode of transmission is presently unknown, although the X-Chromosome is believed to play a role in this disorder since it affects primarily females. Geneticists at Baylor College of Medicine in Houston, TX and others at Johns Hopkins University in Baltimore, MD are working very hard to determine the exact way Rett Syndrome occurs. Affected Population Rett Syndrome has, thus far, been seen in most often in females. While as of October, 1986, there were only 1,100 known cases worldwide, the disorder is thought to be as prevalent as one in 12,000 live female births, based upon studies conducted in Sweden and Scotland. Related Disorders Autism is a lifelong neurological disorder characterized by onset before thirty years of age, retarded development of communication and language, lack of normal response to people, and extreme sensitivity to changes in the physical environment. About seventy-five percent of Autistic children have lower than normal IQ's. Occasionally, an autistic child shows distinct and unusual skills in music, mathematics, or in using spatial concepts. Autistic people live a normal life span. The prognosis for normal adaptation appears to vary with a level of functioning, intelligence and the educational methods applied. About 5 in 10,000 children have the fully expressed syndrome; 15 in 10,000 children show two or more of the main characteristics of autism. Boys are affected four times more frequently than girls. (For more information on this disorder, choose "autism" as your search term in the Rare Disease Database.) Cerebral Palsy is a disorder of muscle control or coordination (motor output system) resulting from injury to the brain during its early stages of development (fetal, perinatal, or early childhood stages). There may be central processing deficits such as communication, intellectual, perceptual, and/or seizures. This disorder occurs in several different forms. (For more information on this disorder, choose "Cerebral Palsy" as your search term in the Rare Disease Database. Therapies: Standard Seizures associated with Rett Syndrome are treated with anticonvulsive medications. Physical therapy is recommended to prevent stiffening and to encourage mobility. Music therapy has been helpful in achieving communication with some Rett Syndrome patients. Braces and splints are sometimes used to treat toe-walking, curvature of the spine (scoliosis), and clenched hands. Hydrotherapy or underwater jet massage may also be helpful. Special education and related services in school are recommended. Therapies: Investigational Research aimed at finding the cause of Rett Syndrome and new treatments is ongoing. More research is necessary to achieve these goals. The drug Naltretone is being tested as a treatment for Rett Syndrome. More research is needed to determine if this drug will be a safe and effective therapy for children with Rett Syndrome. Research on Rett Syndrome is being pursued at the following universities: Dr. Alan Percy or Dr. Diane Donley in the Department of Pediatric Neurology, Sparks Center for Developmental Pediatrics at the University of Alabama School of Medicine, Birmingham, AL. Dr. Daniel Glaze, Director, Rett Syndrome Center, Baylor College of Medicine, Houston, TX. This disease entry is based upon medical information available through June 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rett Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Rett's Syndrome Association 9121 Piscataway Rd., Suite 2-B Clinton, MD 20735 (301) 856-3334 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 1375. Rett Syndrome ! pagetitle 182: Rett Syndrome 04186.TXT Copyright (C) 1986, 1987, 1988, 1991, 1992 National Organization for Rare Disorders, Inc. 108: Reye Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Reye Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hepatic Encephalopathy Liver Degeneration-Encephalopathy Fatty Liver with Encephalopathy Disorders section of this report. Medium Chain CoA Dehydrogenase Deficiency General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Reye Syndrome is a combination of acute brain disease (encephalopathy) and fatty degeneration of the abdominal organs (viscera), which tends to follow some acute virus infections (such as flu or chicken pox), combined with certain toxins (usually aspirin). Besides these viruses and toxins, deficiencies of the enzymes needed in the urea cycle appear to be a contributing factor to Reye Syndrome. Symptoms Vomiting after the onset of a viral illness is usually the first sign of Reye Syndrome. However, children under the age of 2 years may exhibit diarrhea and/or hyperventilation instead of vomiting. Next, behaviorial changes such as listlessness, sleepiness, irritability, aggressive and irrational behavior, and disorientation may occur. The child may then progress to a comatose state often within three to five days after the onset of symptoms. There may also be seizures. A complete recovery is possible. However, brain damage, ranging from a slight decrease in I.Q. to total paralysis, may occur. Causes Reye Syndrome appears to be caused by certain toxins given to individuals with a deficiency of enzymes needed in the digestive cycle. These enzymes break down the ammonium from proteins into urea which is excreted in the urine (urea cycle). This disorder is often associated with the use of aspirin to treat viral infections. The Centers for Disease Control, the AMA, and the American Academy of Pediatrics have issued statements warning against the use of aspirin in children with chickenpox and gastrointestinal flu-like illness. The FDA has also stated that medications such as tigan, compazine, thorazine and phenergan as well as other phenothiazines (a broad category of drugs) used to stop vomiting might possibly contribute to the severity of Reye Syndrome or mask its early symptoms. Except for aspirin, these drugs are only available by prescription. A recent scientific study indicated that ninety percent of children diagnosed with Reye Syndrome had taken salicylate drugs (such as aspirin) during the illness preceding onset of Reye's. The FDA considers this to be firm scientific evidence of the link between Reye Syndrome and aspirin. In 1990 researchers discovered that a few children who had died of Reye Syndrome lacked a certain enzyme that is needed to break down short-chain fatty acids. The beta oxidation defects cause fatty change in the liver muscle, and swelling of the brain. They suspect that this defect may only cause symptoms after a long period of fasting (not eating) which triggers low blood sugar and high concentrations of lactic acid in these children. The enzyme deficiency is inherited. However, more research is needed to confirm this theory. Affected Population Reye Syndrome occurs most frequently in white suburban children under the age of 16 years who have recently had viral illnesses such as chickenpox or influenza. However, it can also occur in newborns, adolescents, and even the middle-aged. The incidence of Reye Syndrome in teenagers has been rising in recent years, indicating that they may self-medicate with aspirin. The incidence of Reye Syndrome seems to be affected by the intensity and/or type of influenza activity year by year, according to the National Reye Syndrome Surveillance System. However, in 1984, influenza activity rose while reported cases of Reye Syndrome in children under ten years of age decreased. The number of cases in adolescents increased slightly. The decreased incidence for children under ten was apparent in cases with both chicken pox (varicella) and respiratory illness. Related Disorders Medium Chain CoA Dehydrogenase Deficiency is a very rare metabolic disorder characterized by a deficiency of the enzyme medium chain CoA dehydrogenase. This enzyme is needed in the breakdown (metabolism) of fats. Low blood sugar (hypoglycemia), lack of energy (lethargy) and possibly coma, associated with fatty changes in the liver, usually occur. During hypoglycemic periods, tests usually show massive amounts of dicarboxylic acid in the urine. (For more information on this disorder, choose "Medium Chain CoA" as your search term in the Rare Disease Database.) Therapies: Standard Reye Syndrome is diagnosed by liver function testing and the presenting symptoms. Immediate supportive treatment and care in an intensive care unit is vital for recovery since there is no known specific therapy for the disorder. Permanent neurological damage, such as mental impairment, can be present after recovery from the acute episode of the disease. Therapies: Investigational This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Reye Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Reye Syndrome Foundation P.O. Box 829 Bryan, Ohio 43506 (419) 636-2679 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Centers for Disease Control (CDC) 1600 Clifton Road, N.E. Atlanta, GA 30333 (404) 639-3534 Office of Consumer Affairs (HFE-88) Food and Drug Administration 5600 Fishers Lane Rockville, MD 20857 References Budd, R., "Spotting Reye Syndrome while there's still time", RN, December, 1983. p. 39-42. Reye Syndrome ndroa pagetitle 108: Reye Syndrome 04155.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 506: Pure Red Cell Aplasia _________________________ ** IMPORTANT ** It is possible the main title of the article (Pure Red Cell Aplasia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Pure Red Blood Cell Aplasia PRCA Information on the following disorders may be found in the Related Disorders section of this report: Anemia, Aplastic Blackfan-Diamond Anemia Fanconi's Anemia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pure Red Cell Aplasia is a rare blood disorder characterized by a sudden decrease in the number of red blood cells (erythrocytes) produced in the bone marrow. Symptoms Pure Red Cell Aplasia is characterized by a sudden decrease in the number of red blood cells produced in the bone marrow. Persons with this disorder are deficient in the number of precursors of red blood cells (erythroblasts). Levels of the hormone erythropoietin that stimulates the bone marrow to produce red blood cells are usually elevated. Causes Pure Red Cell Aplasia is thought to be an autoimmune disorder possibly caused either by a tumor of the thymus gland, certain drugs or a viral infection. It is one of a group of bone marrow failure syndromes. Affected Population Pure Red Cell Aplasia is a rare disorder affecting males and females in equal numbers. Related Disorders Symptoms of the following disorders are similar to those of Pure Red Cell Aplasia. Comparisons may be useful for a differential diagnosis: Aplastic Anemia is characterized by failure of the bone marrow to produce red blood cells, white blood cells and platelets. Certain other anemias are due either to excessive red cell destruction or a limited production of red blood cells. Aplastic Anemia may occur for unknown reasons, or it may be the result of a toxic reaction to radiation, certain drugs or chemicals. In rare cases, the disorder may be caused by a tumor in the thymus gland. (For more information on this disorder, choose "Aplastic Anemia" as your search term in the Rare Disease Database.) Blackfan-Diamond Anemia is a very rare genetic blood disorder which is present at birth. Blood cell abnormalities accompany an unusual physical appearance, paleness, weakness, and lethargy. (For more information on this disorder, choose "Blackfan" as your search term in the Rare Disease Database.) Fanconi's Anemia is a rare form of familial aplastic anemia. It is characterized by bone abnormalities, an abnormally small head (microcephaly), decreased functioning of the sex organs (hypogenitalism) and brown pigmentation of the skin. Complications may include infections such as pneumonia, meningitis, excessive bleeding (hemorrhages), and leukemia. Other malignancies may also occur. (For more information on this disorder, choose "Fanconi" as your search term in the Rare Disease Database.) Therapies: Standard Pure Red Cell Aplasia usually goes into remission when certain drugs such as sulfonylureas (used for treating diabetes), gold for treatment of arthritis, penicillin, phenytoin and phenobarbitol used for treating epilepsy, or the anesthetic halothane which can cause this disorder are discontinued. In patients under 30 years of age, the disorder may initially be treated with the anti-inflammatory drug prednisone and anti-thymocyte globulin. The drugs cyclophosphamide, azathioprine, or 6-mercaptopurine which are toxic for certain cells, and which suppress the immune system (cytotoxic immunosuppressive), may be used for treating older patients with Pure Red Cell Aplasia. After the immunosuppressive therapy begins, patients in both age groups may require periodic blood transfusions until the drugs take effect. The drug treatment is discontinued when remission of the disorder is achieved. For patients who remain resistant to conventional immunosuppressive therapies, antihuman thymocyte gamma globulin may be used. This drug is produced by immunizing horses or rabbits with human thymus cells, and collecting the gamma globulin from their blood plasma. If a patient with Pure Red Cell Aplasia has a tumor of the thymus gland, surgical removal of this gland often causes remission of this disorder. Therapies: Investigational This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pure Red Cell Aplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Aplastic Anemia Foundation of America P.O. Box 22689 Baltimore, MD 21203 (301) 955-2803 1-800-747-2820 References PURE RED CELL APLASIA CHARACTERIZED BY ERYTHROPOIETIC MATURATION ARREST. RESPONSE TO ANTI-THYMOCYTE GLOBULIN: A.D. Jacobs, et al.; American Journal Med (March 1985: issue 78(3)). Pp. 515-517. NEW THERAPIES FOR APLASTIC ANEMIA: S.B. Krantz; American Journal Med Sciences (1986: issue 291). Pp. 371-379. DIPHENYLHYDANTOIN-INDUCED PURE RED CELL APLASIA: E.N. Dessypris, et al.; Blood (1985: issue 65). Pp. 789-794. Pure Red Cell Aplasia pagetitle 506: Pure Red Cell Aplasia 04156.TXT Copyright (C) 1986, 1987, 1989, 1992, 1993 National Organization for Rare Disorders, Inc. 258: Purpura, Idiopathic Thrombocytopenic _________________________ ** IMPORTANT ** It is possible the main title of the article (Idiopathic Thrombocytopenic Purpura) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Purpura Hemorrhagica Werlhof disease ITP General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Idiopathic Thrombocytopenic Purpura (ITP) is characterized by a lack of a certain type of blood cell, called platelets (thrombocytopenia) without a readily apparent cause or underlying disease. The disorder is characterized by abnormal bleeding into the skin. Bleeding from mucous membranes also occurs, and may subsequently result in anemia. Symptoms ITP is characterized by a lack of platelets (thrombocytes) which causes bleeding into the skin. The typical symptoms appear as red spots the size of pinpoints (petechiae) or small hemorrhagic spots (ecchymoses). Bleeding from the mucous membranes also occurs, including nosebleeds (epistaxis), gastrointestinal and genitourinary bleeding, and vaginal bleeding. Bleeding into the Central Nervous System is an uncommon symptom as is bleeding into joints (hemarthrosis). As a result of excessive bleeding, anemia may develop, producing weakness, fatigue or signs of congestive heart failure. Fever and slight enlargement of the spleen may also occur. Causes Although no specific cause for Idiopathic Thrombocytopenic Purpura has been identified, an acute viral infection occasionally precedes the symptoms. Current evidence supports an immunologic basis, since most patients have antiplatelet antibodies that are identifiable. Bone marrow samples acquired by aspiration reveal abundant giant cells which produce platelets (megakaryocytes) that often appear inactive or nonproductive. Affected Population ITP occurs most frequently in children and young adults, and more frequently in females than in males. Pregnant women with lupus are especially susceptible to ITP. Related Disorders Thrombocytopenia is a general term referring to a decreased amount of platelets (thrombocytes) which may be due to a failure of platelet production in the blood. ITP is only one form of thrombocytopenia. Purpura is the most common symptom of a vascular bleeding disorder, manifested by increased bruising and vascular fragility. Allergic Purpura is an acute or chronic inflammation of the blood vessels (vasculitis) primarily affecting the skin, the joints, the gastrointestinal and kidney (renal) systems. Purpura (red/purple color of the skin) results from the effusion of blood and plasma into surfaces under the skin, mucous membranes and under serous membranes. Therapies: Standard About 15% of patients with ITP respond well to corticosteroids (hydrocortisone, or its equivalent, prednisone). Removal of the spleen (splenectomy) can achieve a remission in 50 to 60% of those who fail to respond to steroids or who fail to maintain a remission when steroids are discontinued. Treatment with immunosuppressor drugs such as cyclophosphamide and azathioprine, has been used effectively in some cases that did not respond to steroids and splenectomy. Vincristine can sometimes be therapeutic. Platelet concentrates can be administered for control of bleeding until more specific therapy takes effect. The short survival of platelets in this disorder, however, limits the usefulness of platelet transfusions. A new form of gammaglobulin (immunoglobulin) has been approved by the FDA for intravenous treatment of ITP. The drug may be used for short periods of time in patients (particularly children) who have the acute form of the disorder. The chronic form of ITP may require ongoing treatment with immunoglobulin, usually through monthly intravenous infusions. Therapies: Investigational Defibrotide is an investigational orphan drug being tested for treatment of Thrombotic Thrombocytopenic Purpura. It is available on an experimental basis from Crinos International in Italy. In addition, patients risk development of an immune reaction to repeated platelet transfusions. Anti-D immune globulin has shown good response as a treatment in children with ITP. The product is less expensive and has fewer side effects than other treatments. More testing is needed to determine the long-term safety and effectiveness of the product. Recent studies have shown that combination chemotherapy is beneficial in some affected individuals in whom ITP is refractory to therapy such as corticosteroids and splenectomy. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Idiopathic Thrombocytopenic Purpura, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Blood and Lung Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1050-1. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1159. COMBINATION CHEMOTHERAPY IN REFRACTORY IMMUNE THROMBOCYTOPENIC PURPURA. M. Figueroa, et al.; The New England Journal of Medicine (April 29, 1993, issue 328 (17)). Pp. 1226-29. Purpura, Idiopathic Thrombocytopenics pagetitle 258: Purpura, Idiopathic Thrombocytopenic 04157.TXT !Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 405: Purpura, Schonlein-Henoch Allergic Purpura _________________________ ** IMPORTANT ** It is possible the main title of the article (Schonlein-Henoch Purpura) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Anaphylactoid Purpura Allergic Purpura Henoch-Shonlein Purpura Rheumatic Purpura Nonthrombocytopenic Idiopathic Purpura Peliosis Rheumatica Hemorrhagic Capillary Toxicosis DISORDER SUBDIVISIONS Henoch's Purpura Shonlein's Purpura Information on the following diseases can be found in the Related Disorders section of this report: Scurvy Gardener-Diamond Syndrome Common Purpura General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Shonlein-Henoch Purpura is one of a group of disorders characterized by purplish or brownish red discolorations on the skin. These spots may be large or small. Internal bleeding may occur in various areas of the body. This blood vessel disorder may affect the skin, joints, gastrointestinal system, kidneys, and in a very few cases the central nervous system. Little is known about the cause of this form of purpura although it may be an allergic reaction which more often occurs in children than in adults. Some cases of Shonlein-Henoch characterized by joint disease without gastrointestinal problems are termed Shonlein's Purpura. Another form characterized by acute abdominal symptoms but without joint disease is known as Henoch's Purpura. This disorder runs a limited course with a good prognosis in most cases. Symptoms The first symptom of Shonlein-Henoch Purpura is usually reddening of the skin, slight swelling and a rash (hives). These hives are associated with inflammation of small blood vessels and/or bleeding under the skin with a brown or reddish-purple appearance. The hives seem to appear on the buttocks and lower extremities in most cases but may spread and/or become more severe. Fever and a general feeling of discomfort or weakness may also be present. Blood and plasma may accumulate in the joints or abdomen producing acute local pain. Iron deficiency anemia may develop because of gastrointestinal bleeding. Other gastrointestinal disturbances such as vomiting or blood in the stool may also occur. Central nervous system complications of Shonlein-Henoch Purpura may include headaches, perceptual changes and/or seizures. Kidney inflammation or lesions, which occur in approximately ten percent of cases, may signify a more serious form of this type of purpura and can appear at any time during the course of this illness. Causes The exact cause of Shonlein-Henoch Purpura is unknown. Some medical researchers believe it may be an extreme allergic reaction to certain foods (such as chocolate, milk, eggs or beans), various drugs or insect bites in sensitive people. At times, infections of the upper respiratory tract or Rubella (German Measles) have preceded outbreaks of Shonlein-Henoch Purpura, but no definite link with viral infections has been proven. Affected Population Shonlein-Henoch Purpura is most commonly observed in children but can occur at any age. It appears to affect males slightly more often than females with a ratio of thirty-five males to twenty-five females in one study. Related Disorders The Purpuras are a group of disorders characterized by purplish or brownish red discolorations on the skin. These spots may be large or small and are caused by bleeding into the skin tissue where the spots appear. Symptoms of the following disorders can be similar to Shonlein-Henoch Purpura. Comparisons may be useful for a differential diagnosis: Common Purpura is the most prevalent type of purpura and is characterized by the unusual appearance of spots (black and blue marks) that signify easy bruising. This inherited condition occurs most frequently in women over 50 years of age, particularly those whose skin tissue has become thinner. In the absence of serious injury, unsightly bruises tend to appear rather than significant bleeding under the skin. Fragility of the blood vessels in affected individuals can lead to excessive bleeding following surgery or even minor injury. The blood vessel walls may also become thinner due to some types of illnesses, infection, hypothyroidism, and/or excessive exposure to certain drugs. No standard therapy has been found for treating common purpura although brief courses of corticosteroids may help reduce bleeding. Estrogen may be administered to affected women after menopause to help alleviate the tendency to bleed excessively. (To locate information on other types of purpura, or purpura as a symptom of other diseases, choose "purpura" as your search term in the Rare Disease Database). Scurvy is a type of purpura due to deficiency of ascorbic acid (Vitamin C) in the diet. It is marked by weakness, anemia, spongy gums, a tendency to bleed under the skin and in the mucous membranes. Adequate Vitamin C in the diet can cure this disorder. Gardener-Diamond Syndrome is a type of purpura occurring chiefly in young women. Spontaneous, painful, recurrent blue or purplish spots may appear on any part of the body unrelated to apparent injury. It has been suggested that this disorder may be triggered by the body's immune system attacking a specific component of blood cells. Gardner-Diamond is also called "Painful Bruising Syndrome". Therapies: Standard If a patient is found to be allergic to a substance which precipitated the attack of Shonlein-Henoch Purpura, that substance should be avoided. Other treatment is symptomatic and supportive. Mild cases in children tend to improve spontaneously with age. No specific therapy for cases with kidney involvement has been found, but hemodialysis may be of benefit in severe cases with renal failure. Therapies: Investigational Treatment with a combination of anticoagulants (heparin and acenocoumarol), corticosteroids, and immunosuppressive drugs has been tested for treatment of adults with severe cases of Shonlein-Henoch Purpura. Immunosuppressive drug therapy (cyclophosphamide) alone has been used in a few cases with some success. Plasmapheresis (a method for removing unwanted substances such as toxins, metabolic substances and plasma parts from the blood by separating plasma from blood cells has been tried. More research on the use of plasmapheresis as a treatment for Shonlein-Henoch Purpura is needed before effectiveness can be evaluated. This disease entry is based upon medical information available through February 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Shonlein-Henoch Purpura, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References SCHONLEIN-HENOCH SYNDROME IN ADULTS: D.A. Roth, et al.; Q J Med (May 1985, issue 55(217)). Pp. 145-152. CLINICAL ASPECTS OF THE NEPHROPATHY IN SCHONLEIN-HENOCH SYNDROME: E. Verrina, et al.; Pediatr Med Chir (May-June 1986, issue 8(3)). Pp. 317-320. NEUROLOGICAL MANIFESTATIONS OF SCHONLEIN-HENOCH PURPURA: REPORT OF THREE CASES AND REVIEW OF THE LITERATURE: A.L. Belman, et al.; Pediatrics (April 1985, issue 75(4)). Pp. 687-692.... Purpura, Schonlein-Henoch; Allergic Purpura #pagetitle 405: Purpura, Schonlein-Henoch Allergic Purpura 04158.TXT *Copyright (C) 1989, 1991 National Organization for Rare Disorders, Inc. 653: Purpura, Thrombotic Thrombocytopenic _________________________ ** IMPORTANT ** It is possible that the main title of the article (Thrombotic Thrombocytopenic Purpura) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms TTP Moschowitz Disease Information on the following diseases can be found in the Related Disorders section of this report: Hemolytic-Uremic Syndrome (HUS) Thrombotic Microangiopathy ('TTP-HUS' Complex) Idiopathic Thrombocytopenic Purpura (ITP) Schoenlein-Henoch Purpura Thrombocytopenia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Thrombotic Thrombocytopenia Purpura (TTP) is a rare, serious blood disease. Major symptoms may include a severe decrease in the number of blood platelets (thrombocytopenia), abnormal destruction of red blood cells (hemolytic anemia), and disturbances in the nervous system. Kidney dysfunction and fever are also common. Symptoms In addition to thrombocytopenia and hemolytic anemia, blood platelets may clot in the blood vessels of many organs which may block the normal flow of blood. Disturbances in the nervous system may include headaches, mental changes, slight or partial paralysis (paresis), seizures, or coma. Fever, blood plasma proteins in the urine (proteinuria), and a very small number of red blood cells in the urine (hematuria) may also occur. Patches of purplish discoloration (purpura) resulting from abnormal bleeding into the mucous membranes (the thin, moist layer lining the body's cavities) and into the skin is another feature of TTP. Abnormally heavy bleeding (hemorrhage), weakness, fatigue, lack of color (pallor), and abdominal pain with nausea and vomiting may also be present. In half of TTP patients, an increased level of creatinine is found in their blood serum. Acute renal failure occurs in only about 10% of TTP patients. Urine flow is very low. Within days, swelling of the feet, shortness of breath, headache, and fever may occur. Retention of water and salt in the blood may lead to high blood pressure, changes in brain metabolism, and congestion in the heart and lungs. Acute renal failure may lead to a buildup of potassium in the blood (hyperkalemia) which may cause irregular heartbeat. Abnormalities in the retina (the light-sensitive layer of the eye) have been found in female TTP patients after taking oral contraceptives. Clearness of vision is usually not affected. There may be possible serious complications during pregnancy in TTP patients. In general, TTP often occurs suddenly with great severity and may recur or persist. Causes The exact cause of TTP is not known. It may be due to an infectious agent or to an autoimmune reaction. Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms suddenly begin to attack healthy tissue. Some people may have a hereditary predisposition to TTP since family members have become affected years apart. TTP may be influenced by hormones. In some cases of TTP, relapses coincide with the use of oral contraceptives and with menstrual cycles (cyclic TTP). TTP can occur as a consequence of AIDS, the AIDS-related complex, or the human immunodeficiency virus (HIV) infection. Affected Population One in a million people are affected with TTP each year. Two-thirds of TTP patients are women. It usually affects people between 20 to 50 years old. TTP is occasionally associated with pregnancy and collagen-vascular diseases (a group of diseases affecting connective tissue). TTP appears to occur more frequently than usual in intravenous drug addicts and homosexual men who have human immunodeficiency virus (HIV) infection. Related Disorders Symptoms of the following disorders can be similar to those of Thrombotic Thrombocytopenia Purpura (TTP). Comparisons may be useful for a differential diagnosis: Hemolytic-Uremic Syndrome (HUS) is characterized by acute renal failure, a severe decrease in the number of blood platelets (thrombocytopenia), and abnormal destruction of red blood cells (hemolytic anemia). HUS tends to occur in children less than 4 years old and usually after an infectious disease. In adults, it may affect young women as a complication of pregnancy or in the postpartum period. HUS may have a common origin and development as TTP and treatment is similar. (For more information on this disorder, choose "HUS" as your search term in the Rare Disease Database. Thrombotic Microangiopathy is the occurrence of TTP and HUS together. It is also called the 'TTP-HUS' complex. It has been suggested that TTP and HUS are actually variants of the same disease. Idiopathic Thrombocytopenic Purpura (ITP) is a blood disease with no specific known cause. It is characterized by thrombocytopenia, abnormal bleeding into the skin and mucous membranes, and anemia. ITP occurs most frequently in children and young adults, and more frequently in females than males. A viral infection may precede ITP. (For more information on this disorder, choose "ITP" as your search term in the Rare Disease Database). Schoenlein-Henoch Purpura is one of a group of disorders characterized by purplish or brownish-red discolorations of the skin caused by abnormal bleeding into the skin and mucous membranes. This blood disorder may affect the skin, joints, gastrointestinal system, kidneys, and in a few cases the central nervous system. Major symptoms may include a rash, fever, weakness, pain in the joints or abdomen, vomiting, blood in the stool, and anemia. Central nervous system symptoms may include headaches, perceptual changes, and seizures. The exact cause of Schoenlein-Henoch Purpura is unknown, but it may be related to an extreme allergic response to foods, drugs, or insect bites. (For more information on this disorder, choose Schoenlein-Henoch" as your search term in the Rare Disease Database.) Thrombocytopenia is a general term referring to a group of blood disorders including TTP, HUS, and ITP. It is characterized by a severe decrease in the number of blood platelets and excessive bleeding into the skin or mucous membranes. Anemia may occur producing weakness, fatigue, and signs of congestive heart failure. (For more information on this disorder, choose "Thrombocytopenia" as your search term in the Rare Disease Database). Therapies: Standard Rapid diagnosis and immediate treatment is very important in TTP. The current drug treatment of TTP is prednisone which may relieve inflammation and suppress the immune system. Additionally, fresh frozen plasma (the fluid part of the blood) is infused into the patient's vein. Plasma infusion should be used with extreme caution. Genetic counseling may be of benefit for patients and their families when TTP has affected other family members. Other treatment is symptomatic and supportive. Therapies: Investigational Plasmapheresis and plasma exchange may be of benefit in some cases of TTP. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. Plasma infusion is also being studied as a treatment for TPP patients. The infusion process uses substances missing from the TPP patient's blood and replaces them through infusion of new plasma into the patient. No blood is removed from the patient during this process. These therapies are still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis and plasma infusion can be recommended for use in all but the most severe cases of TTP. Whole blood exchange may also be of benefit in some cases of TTP and is still under investigation. It involves the simultaneous withdrawal of the patient's blood and the replacement of a donor's blood. Other drugs such as vincristine (an immunosuppressant), dipyridamole, and aspirin may be considered when TTP is not responsive to other treatment. Also, drugs that destroy blood platelet clots (antiplatelet) may be of benefit to TTP patients. However, the side effects and the effectiveness of these drugs are uncertain. The orphan drug, Defibrotide, is being investigated for the treatment of TTP. Interested doctors may contact: Crinos International Via Belvedere 1 22079 Villa Guardia (Como) Italy The effectiveness of removing the spleen (splenectomy) of TTP patients is also being investigated. This disease entry is based upon medical information available through September 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Thrombotic Thrombocytopenic Purpura, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute (NHBLI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 860, 1006-1007. THROMBOTIC THROMBOCYTOPENIC PURPURA. A REVIEW: S.J. Sierakow and E.J. Kucharz; Cor Vasa (1988: issue 30(1)). Pp. 60-72. HORMONAL DEPENDENT THROMBOTIC THROBOCYTOPENIC PURPURA (TTP). R.S. Holdrinet, et al.; Scand J Haematol (March, 1983: issue 30(3)). Pp. 250-256. THROMBOTIC THROMBOCYTOPENIC PURPURA IN PATIENTS WITH THE ACQUIRED IMMUNODEFICIENCY SYNDROME (AIDS)-RELATED COMPLEX. A REPORT OF TWO CASES: J.M. Nair, et al.; Ann Intern Med (August 1, 1988: issue 109(3)). Pp. 209-212. Purpura, Thrombotic Thrombocytopenic +pagetitle 653: Purpura, Thrombotic Thrombocytopenic 04159.TXT %Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 569: Pyoderma Gangrenosum _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pyoderma Gangrenosum) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Leg Ulcers Information on the following diseases can be found in the Related Disorders section of this report: Dermatitis Herpetiformis Cutaneous Sporotrichosis Ulcerative Colitis Crohn's Disease Rheumatoid Arthritis Myelogenous Leukemia Myeloid Metaplasia Paraproteinemias General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pyoderma Gangrenosum is a rare skin disorder of unknown origin. Major symptoms include small pustules that develop into large ulcers at various sites on the body. It may or may not be associated with other illnesses. Symptoms Pyoderma Gangrenosum is a skin ulceration characterized by a growing, purple colored, undermined border with an irregular base of pus and decaying tissue. The ulcers most frequently develop on the legs but they may appear on the trunk, head and neck, scrotum and in the mucous membranes (mucosa). Causes The exact cause of Pyoderma Gangrenosum is not known although it is suspected to be an autoimmune disease. (Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms begin to attack healthy tissue.) Fifty percent of all cases of Pyoderma Gangrenosum develop for no apparent reason and the other fifty percent are associated with other disorders. Of the associated diseases thirty percent are related to ulcerative colitis (a digestive disease) but Pyoderma Gangrenosum is also seen in patients with Crohn's disease, rheumatoid arthritis, acute and chronic myelogenous leukemia, myeloid metaplasia and paraproteinemias. Pyoderma Gangrenosum usually follows the course of the accompanying bowel disease; however, it may appear during periods of disease remission as well. Affected Population Pyoderma Gangrenosum affects males and females in equal numbers. It is uncommon in children and most common in middle-aged women. Related Disorders Symptoms of the following disorders can be similar to those of Pyoderma Gangrenosum. Comparisons may be useful for a differential diagnosis: Dermatitis Herpetiformis (Duhring Disease) is a familial disease characterized by a chronic eruption of clusters of intensely itchy blisters, papules, and slightly elevated patches on the skin that are either redder or paler than the surrounding skin. Patches are usually distributed symmetrically on elbows, knees, buttocks, head, and tail-bone area (sacrum). Blisters and papules are common on the face and neck. Onset of Duhring Disease can occur at any age, but it usually appears during middle adult life. It is very rare in children, and occurs more frequently in males that in females. (For more information on this disorder, choose "Duhring" as your search term in the Rare Disease Database). Cutaneous Sporotrichosis (Schenck Disease) is a chronic yeast infection under the skin (subcutaneous) spread by way of the lymph glands and caused by the bacteria known as Sporothrix Schenckii. The disease may remain localized or may become generalized, involving bones, joints, lungs, and the central nervous system. Lesions may be grainy, full of pus, ulcerative or draining. The following disorders may precede the development of Pyoderma Gangrenosum. They can be useful in identifying an underlying cause of some forms of this disorder: Ulcerative Colitis is a non-specific inflammatory disease of the bowel characterized by chronic ulceration. The chief characteristic of this disorder is bloody diarrhea. This disease is of unknown cause. It generally begins in the area of the rectum. It may involve the entire large bowel. The disease is usually chronic, with acute inflammation of the colon. It is characterized by multiple, irregular superficial ulcerations, thickening of the wall of the colon with scar tissue and polyps. (For more information on this disorder, choose "Ulcerative Colitis" as your search term in the Rare Disease Database). Crohn's Disease is a form of inflammatory bowel disease, characterized by severe chronic inflammation of the wall of the small intestine, but it can involve any part of the gastrointestinal tract. The symptoms include fatigue, anorexia, weight loss, abdominal pain, and chronic diarrhea. Less commonly, there is inflammation of the mucosa of the mouth, the esophagus, or stomach. Regional lymph nodes can become involved. A solid mass may be felt in the abdomen during acute stages of the disease. (For more information on this disorder, choose "Crohn" as your search term in the Rare Disease Database). Rheumatoid Arthritis is a disease of unknown origin which may have a relationship to autoimmune processes. This disorder is characterized by lack of appetite (anorexia), tiredness, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. Once affected, a patient's joints remain painful or uncomfortable for weeks, months, or even years. (For more information about many types of Arthritis use "Arthritis" as your search term in the Rare Disease Database). Myelogenous Leukemia is a form of blood cancer in which the abnormal cells are derived from bone marrow (myelopoietic tissue). Myeloid Metaplasia is a syndrome characterized by anemia, enlargement of the spleen, nucleated red blood cells and immature granulocytes in the circulating blood. If it occurs in persons who have another disease and it is termed secondary or symptomatic myeloid metaplasia. It also occurs as a primary illness and is then termed primary or agnogenic myeloid metaplasia, myelofibrosis or myelosclerosis, because of the presence of an associated fibrosis of the bone marrow. The condition may develop in the course of red blood cell disease such as polycythemia rubra vera and there is a high incidence of eventual development of myeloid leukemia. Paraproteinemia is a disorder in which there is the presence of abnormal proteins in the blood. Therapies: Standard Treatment of Pyoderma Gangrenosum consists of open wet dressings on the ulcers, topical application of disodium cromoglycate or zinc sulfate, and cleaning away the dead tissue. The skin must be protected from any other injury which could result in development of other ulcers. In some cases, the grafting of new skin to the wound may be recommended. Systemic treatment includes the use of drugs such as corticosteroids, sulfonamides, sulfones and antimetabolites, methylprednisolone, and dapsone. Therapies: Investigational The orphan drug thalidomide is being tested as a treatment for Pyroderma Gangrenosum. This drug should not be taken by pregnant women because it can cause severe birth defects. Physicians wishing to test thalidomide as a treatment for this disorder may contact: Pediatric Pharmaceutical 379 Thornall St. Edison, NJ 08837 Thalidomide is available in England under special license from Penn Pharmaceuticals of South Tredegar, South Wales. Clinical trials are underway to study clofazimine in the treatment of Pyroderma Gangreosum and other inflammatory diseases. Interested persons may wish to contact: Dr. Martin Carter The Rockefeller University Hospital Laboratory for Investigative Dermatology New York, NY 10021 (212) 570-8091 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pyroderma Gangrenosum, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information about Colitis or Crohn's disease: National Foundation for Ileitis and Colitis 444 Park Avenue, South New York, NY 10016 (212) 685-3440 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1390-1392. PYODERMA GANGRENOSUM ASSOCIATED WITH ULCERATIVE COLITIS: TREATMENT WITH DISODIUM CROMOGLYCATE. D.R. Cave, et al.; Am J Gastroenterol (August, 1987, issue 82 (8)). Pp. 802-804. PYODERMA GANGRENOSUM COMPLICATING ULCERATIVE COLITIS: SUCCESSFUL TREATMENT WITH METHYLPREDNISOLONE PULSE THERAPY AND DAPSONE. E. Galun, et al.; Am J Gastroenterol (October, 1986, issue 81 (10)). Pp. 988-989. PUSTULAR PYODERMA GANGRENOSUM ASSOCIATED WITH ULCERATIVE COLITIS IN CHILDHOOD. REPORT OF TWO CASES AND REVIEW OF THE LITERATURE. L. Barnes, et al.; J Am Acad Dermatol (October, 1986, issue 15 (4 Pt 1)). Pp. 608-614. Pyoderma Gangrenosum 'pagetitle 569: Pyoderma Gangrenosum 04160.TXT "Copyright (C) 1992 National Organization for Rare Disorders, Inc. 873: Pyruvate Carboxylase Deficiency _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pyruvate Carboxylase Deficiency) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PC Deficiency Disorder Subdivisions: Group A PC Deficiency Group B PC Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Leigh's Disease Pyruvate Decarboxylase Deficiency Wernicke-Korsakoff Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pyruvate Carboxylase Deficiency is a rare genetic metabolic disorder that is present at birth. It is classified as a lactic acidemia because the conversion of pyruvate to oxaloacetate is blocked, impairing a gluconeogenesis and resulting in an overabundance of lactic acid in the blood. Major symptoms may include brain metabolism degeneration, delayed development, seizures, muscle weakness (hypotonia) and acidosis. Symptoms Pyruvate Carboxylase Deficiency symptoms include: failure to thrive, lack of motor development, seizures, vomiting, stiffened muscles (spasticity) and unusual eye motion. Causes Pyruvate Carboxylase Deficiency is inherited through autosomal recessive traits. The gene responsible for the disease is located on the long arm of chromosome 11. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Affected Population Pyruvate Carboxylase Deficiency is a very rare metabolic disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Pyruvate Carboxylase Deficiency. Comparisons may be useful for a differential diagnosis. Leigh's Disease is a genetic metabolic disorder characterized by lesions of the brain, spinal cord, optic nerve and in some cases, an enlarged heart. The disorder is usually first diagnosed during infancy but may begin later. Symptoms during infancy may include low body weight, slow growth, tremors, skin changes and interrupted breathing patterns. Progressive neurological disturbances, mental retardation, slurred speech and loss of motor coordination (ataxia) may occur in cases that begin during or after infancy. Abnormalities of eye movements and other vision problems may develop in cases with later onset. For more information on this disorder, choose "Leigh" as your search term in the Rare Disease Database. The presentation of Pyruvate Dehydrogenase Complex Deficiency may range from severe acidosis appearing during the first few days of life to recurrent episodes of muscle incoordination (ataxia) often associated with upper respiratory infection or other minor stress. The growth rate may be slowed in some children with this disorder. Varying degrees of neurologic deficits and mental retardation may occur in patients with this type of acidosis. Severe acidosis due to abnormally high levels of lactic acid usually appear shortly after birth. Lower levels may follow a meal high in carbohydrates. For more information on this disorder, choose "Pyruvate Dehydrogenase" as your search term in the Rare Disease Database. Wernicke-Korsakoff Syndrome is also known as Cerebral Beriberi. It is characterized by psychotic symptoms known as Korsakoff's psychosis and by degeneration of other brain functions known as Wernicke's encephalopathy. In Korsakoff's psychosis there is mental confusion. Other encephalopathic symptoms include involuntary, rapid eye movements, paralysis of the eye muscles, coma and death if untreated. For more information on this disorder, choose "Korsakoff" as your search term in the Rare Disease Database. Therapies: Standard Treatment of Pyruvate Carboxylase Deficiency consists of dietary limitation of protein and carbohydrate. Since this disorder requires biotin or a cofactor, some cases may respond to pharmacologic doses of biotin. Genetic counseling will be of benefit for families. Other treatment is symptomatic and supportive. Therapies: Investigational Treatment of severe lactic acidosis with Dichloroacetate appears to improve certain laboratory tests, but does not result in improvement of symptoms. A study published in the November 26, 1992 New England Journal of Medicine indicated that only twelve percent of the Dichloroacetate-treated patients survived and seventeen percent of the placebo-treated group survived. Scientists do not understand why this appears to reduce arterial-blood lactate concentrations and pH, but fails to alter the disease. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pyruvate Carboxylase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923-1783 New Fairfield, CT 06812-1783 (203) 746-6518 Lactic Acidosis Support Group 1620 Marle Ave. Denver, CO 80229 (303) 287-4953 Dr. Peter Stacpoole College of Medicine University of Florida Box J-226, JHMHC Gainesville, FL 32610 Dr. Saul Brusilow The Johns Hopkins Hospital 301 Children's Medical & Surgical Center 600 North Wolfe St. Baltimore, MD 21205 (301) 955-5064 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Children's Brain Diseases Foundation for Research 350 Parnassus, Suite 900 San Francisco, CA 94117 (415) 566-5402 (415) 565-6259 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1451. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 872-878. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1449-1450. PYRUVATE CARBOXYLASE DEFICIENCY: ACUTE EXACERBATION AFTER ACTH TREATMENT OF INFANTIL SPASMS., Rutledge, S.L. et al.; Pediatr Neurol, July-August, 1989, (issue 5 (4)). Pp. 249-252. DETERMINATION OF U-13C GLUCOSE TURNOVER INTO VARIOUS METABOLITE POOLS FOR THE DIFFERENTIAL DIAGNOSIS OF LACTIC ACIDEMIAS., Kassel, DB, et al.; Anal Biochem, February 1, 1989, (issue 176 (2)). Pp. 382-389. CONTROLLED CLINICAL TRIAL OF DICHLOROACETATE FOR TREATMENT OF LACTIC ACIDOSIS IN ADULTS: P.W. Stacpoole, et al.; The New England Journal of Medicine; (November 26, 1992, issue 327 (22)). Pp. 1564-69. Pyruvate Carboxylase Deficiency $pagetitle 873: Pyruvate Carboxylase Deficiency 04161.TXT Copyright (C) 1987, 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 413: Pyruvate Dehydrogenase Deficiency _________________________ ** IMPORTANT ** It is possible the main title of the article (Pyruvate Dehydrogenase Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Alaninuria Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency Lactic and Pyruvate Acidemia with Carbohydrate Sensitivity Lactic and Pyruvate Acidemia with Episodic Ataxia and Weakness PDH Deficiency Information on the following disorder can be found in the Related Disorders section of this report: Leigh Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pyruvate Dehydrogenase Deficiency is a disorder of carbohydrate metabolism inherited through autosomal recessive genes. Symptoms are caused by a deficiency of the enzyme pyruvate dehydrogenase resulting in persistent or recurrent metabolic acidosis (acidemia). The disorder is manifested by mental retardation and other neurological symptoms. Symptoms Symptoms of Pyruvate Dehydrogenase Deficiency may range from severe acidosis appearing during the first few days of life to recurrent episodes of muscle incoordination and/or (ataxia) often associated with upper respiratory infection or other minor stress. The growth rate may be slowed in some children with this disorder. Varying degrees of neurologic deficits and mental retardation may occur in patients with this type of acidosis. Biochemical abnormalities may vary from severe acidosis (due to abnormally high levels of lactic acid) appearing shortly after birth to mildly elevated levels which usually follows a meal high in carbohydrates. In some cases elevation of blood lactate levels is seen only during the acute episodes. Excretion of abnormally large amounts of the amino acid alanine (alaninuria) may occur only during acute episodes. Causes Pyruvate Dehydrogenase Deficiency is inherited as an autosomal recessive trait. A deficiency of the enzyme pyruvate dehydrogenase causes defective oxidation of pyruvate. In the more severely affected patients, lactic acidosis may be triggered when a meal high in carbohydrates is eaten. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Pyruvate Dehydrogenase Deficiency appears to affect males in slightly higher numbers than females. Related Disorders The following disorder has similar symptoms to Pyruvate Dehydrogenase Deficiency. Comparison can be useful for a differential diagnosis: Leigh Disease is a genetic metabolic disorder characterized by lesions of the brain, spinal cord, optic nerve, and in some cases, an enlarged heart. Symptoms during infancy may include low body weight, slow growth, tremors, skin changes and interrupted breathing patterns. Progressive neurological disturbances, mental retardation, slurred speech and loss of motor coordination (ataxia) may occur in cases that begin during or after infancy. Abnormalities of eye movement and other vision problems may develop in cases with later onset. This disorder is inherited as a recessive trait. (For more information on this disorder, choose "Leigh" as your search term in the Rare Disease Database.) Therapies: Standard Diagnosis of Pyruvate Dehydrogenase Deficiency can be made shortly after birth by biochemical assay in fibroblast cells. Symptoms of this disorder can be somewhat controlled in some cases by avoiding carbohydrates and increasing fat in the diet. Avoidance of infection and undue stress is also recommended. Some cases may respond to treatment with thiamine (vitamin B1) or lipoic acid. Genetic counseling will be helpful to families of children with Pyruvate Dehydrogenase Deficiency. Therapies: Investigational Clinical trials are underway to study stable isotope technique in glucogenesis and Krebs cycle and patient response to treatment. Interested persons may wish to contact: Dr. W.N. Paul Lee Harbor University of CA, Los Angeles Medical Center Dept. of Pediatrics 1000 W. Carson St. Torrance, CA 90509 (213) 533-2503 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pyruvate Dehydrogenase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Lactic Acidosis Support Group P.O. Box 480282 Denver, CO 80248 (303) 287-4953 Organic Acidemia Association 522 Lander St. Reno, NV 89512 (703) 322-5542 British Organic Acidemia Association 5 Saxon Rd. Ashford, Middlesex TW15 1QL England Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 2080. THE METABOLIC BASIS OF INHERITED DISEASE, 6th ed.: Charles R. Scriver, et al.; eds., McGraw Hill, 1989. Pp. 674, 873-874. Pyruvate Dehydrogenase Deficiency pagetitle 413: Pyruvate Dehydrogenase Deficiency 04162.TXT Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 465: Pyruvate Kinase Deficiency _________________________ ** IMPORTANT ** It is possible the main title of the article (Pyruvate Kinase Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Nonspherocytic Hemolytic Anemia, Congenital, with diminished activity or kinetic abnormalities of erythrocyte pyruvate kinase Information on the following disorders can be found in the Related Disorders section of this report: Anemia, Hereditary Non-Spherocytic Hemolytic Anemia, Hereditary Spherocytic Hemolytic Glucose-6-Phosphate Dehydrogenase Deficiency (G-6-PD) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pyruvate Kinase Deficiency is a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. This enzyme deficiency causes hemoglobin to be separated from the red blood cells (hemolytic anemia). Symptoms Pyruvate Kinase Deficiency is characterized by hemolytic anemia. An excess of young red blood cells (reticulocytes) usually occurs. The anemia is chronic and may vary from mild to severe. Enlargement of the spleen (splenomegaly) may occur, and gallstones may sometimes develop. After infections, the anemia tends to become more severe. In rare cases, leg ulcers may develop. Causes Pyruvate Kinase Deficiency is a hereditary disorder, transmitted by autosomal recessive genes. Different forms of the enzyme exist. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population The incidence of Pyruvate Kinase Deficiency is less than 1% of the population. Males and females are affected in equal numbers. Most affected persons identified thus far have been of European origin. Related Disorders Hereditary Non-Spherocytic Hemolytic Anemia is thought to be a heterogeneous group of disorders characterized by red blood cell defects situated entirely within these cells (intrinsic). The abnormal spheroid shaped red cells known as spherocytes are not present in this type of hemolytic anemia. Symptoms of Hereditary Non-spherocytic Hemolytic Anemia include moderate anemia, intermittent yellowing of the skin (jaundice) and occasionally an enlarged spleen (splenomegaly). (For more information, choose "nonspherocytic anemia" as your search term in the Rare Disease Database.) Hereditary Spherocytic Hemolytic Anemia (Hereditary Spherocytosis) is characterized by the presence of red blood cells with a greater than normal thickness giving them a spherical shape (spherocytes). Excessive red blood cell destruction occurs which causes anemia, jaundice and a feeling of discomfort (malaise). The severity of the disorder varies greatly among patients. (For more information on this disorder, choose "spherocytic anemia" as your search term in the Rare Disease Database.) Glucose-6-Phosphatase Dehydrogenase Deficiency (G-6-PD) may be caused by sensitivity to certain drugs in some patients. It is usually inherited through sex-linked genes. Symptoms are caused by a deficiency of the enzyme Glucose-6-Phosphate Dehydrogenase. Separation of hemoglobin from the red blood cells (hemolysis) may be triggered in older red blood cells by exposure to certain drugs or other substances that produce peroxide and cause oxidation of hemoglobin in the red blood cells. These substances include the drugs primaquine, aspirin, sulfonamides, nitrofurans, phenacetin, naphthalene, some vitamin K derivatives, and fava beans. Acute viral or bacterial infections, or diabetic acidosis may also precipitate hemolysis. Anemia, jaundice and the presence of immature red blood cells (reticulocytes) may develop. Chronic inborn hemolysis in the absence of drugs may occur in some persons of European heredity. Therapies: Standard Pyruvate Kinase Deficiency anemia is usually treated with blood transfusions. In severe cases among infants and young children, surgical removal of the spleen may help control this disorder. Other treatment is symptomatic and supportive. Therapies: Investigational Research is underway to find ways to replace missing enzymes (enzyme replacement therapy) in people who are affected by Pyruvate Kinase Deficiency and other types of enzyme deficiency disorders. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pyruvate Kinase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1611-1614. HEMOLYTIC ANEMIAS AND ERYTHROCYTE ENZYMOPATHIES: Valentine; Annals Intern Med (August 1985: issue 103(2)). Pp. 245-257. Pyruvate Kinase Deficiency pagetitle 465: Pyruvate Kinase Deficiency 04163.TXT Copyright (C) 1989, 1991 National Organization for Rare Disorders, Inc. 621: Q Fever _________________________ ** IMPORTANT ** It is possible that the main title of the article (Q Fever) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Q Fever Pneumonia Information on the following diseases can be found in the Related Disorders section of this report: Rocky Mountain Spotted Fever Epidemic Typhus Murine Typhus Pneumonia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Q Fever is an infectious disease that is caused by contact with animals who have the parasitic Rickettsia bacteria, Coxiella burnetii. Major symptoms may include headache, fever, chills, and sweats. Symptoms Q Fever patients may have headaches, fevers, chills, sweats, coughing, and inflammation of the lungs (pneumonitis). They may also experience excessive tiredness (fatigue), muscle pain (myalgia), chest pain, sore throat, nausea, vomiting, and diarrhea. Prolonged Q Fever may result in inflammation and enlargement of the liver (hepatitis, hepatomegaly) with upper right abdominal pain, fever, fatigue, and yellowing of the skin (jaundice). Inflammation of the lining of the heart (endocarditis) may also occur. Causes The Q Fever bacteria infects cats, rats, rabbits, cattle, sheep, goats, and ticks. People who inhale the bacteria from an infected animal (especially one giving birth) may become infected and show signs of Q Fever after an incubation period of 9 to 39 days. In Canada the most common cause of Q Fever is exposure to a cat or her kittens at the time of birth. Q Fever can also be transmitted by inhaling contaminated aerosols (material from spray cans), working in a slaughterhouse, drinking unpasteurized milk, hunting, slaughtering or dressing infected animals. People may also become infected from the bite of an infected tick. Affected Population Q Fever effects males and females in equal numbers and occurs worldwide. Related Disorders Symptoms of the following disorders can be similar to those of Q Fever. Comparisons may be useful for a differential diagnosis: Rocky Mountain Spotted Fever (RMSF) is an infectious disease that is caused by contact with a parasitic Rickettsial bacteria (Rickettsia rickettsii). People can develop RMSF after being bitten by an infected tick. After an incubation period of 2 to 12 days, fever with a rash starting on the hands and feet and spreading to the rest of the body may occur. Headache, dulled senses (stupor), chills, cough, nausea, vomiting, diarrhea, and abdominal pain may occur. The patient may experience muscle tenderness and pain, extreme sensitivity to light (photophobia), and infection of the lining of the eyelid and exposed surfaces of the eyeball (conjunctiva). Rocky Mountain Spotted Fever is found in North, Central, and South America. (For more information on this disorder, choose "Rocky Mountain" as your search term in the Rare Disease Database.) Epidemic Typhus is an infectious Rickettsial disease caused by the parasitic bacteria, Rickettsia prowazekii. It is transmitted to people by infected body lice. Symptoms of Epidemic Typhus are similar to those of Rocky Mountain Spotted Fever except the rash usually spares the palms of the hands and soles of the feet, but patients may experience a deeper stupor and more tiredness. Epidemic Typhus is found worldwide but is more common in warm climates with poor sanitation. Murine Typhus is an infectious Rickettsial disease caused by the parasitic bacteria, Rickettsia typhi (mooseri). Murine Typhus is transmitted to people by a bite from an infected rat flea. Symptoms of Murine Typhus are usually milder than Epidemic Typhus. Murine Typhus occurs worldwide, especially in warm climates with poor sanitation. Pneumonia is a common lung infection that can be caused by bacteria, virus, or fungi. Common symptoms are headaches, fevers, chills, sweats, coughing, chest pain, nausea, vomiting, and in children, convulsions. There may be an increase in breathing and pulse rate. Therapies: Standard Diagnosis of Q Fever can be confirmed by tests for antibodies (specific substances produced by the body to fight off foreign substances-antigens) to the Q Fever bacteria. Tetracyclines and other antibiotics may be used to treat Q Fever. Some Q Fever patients may improve without treatment, while others will get more intensely ill in the absence of treatment. Therapies: Investigational Researchers are trying to develop a vaccine for Q Fever. People who work with animals or in a slaughterhouse would be prime candidates for this vaccine. This disease entry is based upon medical information available through August 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Q Fever, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Disease 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1629-1634. POKER PLAYERS' PNEUMONIA: AN URBAN OUTBREAK OF Q FEVER FOLLOWING EXPOSURE TO A PARTURIENT CAT: Joanne M. Langley, et al.; N Engl J Med (August 11, 1988: issue 319(6)). Pp. 354-356. Q FEVER: CURRENT CONCEPTS: L.A. Sawyer et al.; Rev Infect Dis (September-October, 1987: issue 9(5)). Pp. 935-946. Q Fever pagetitle 621: Q Fever 04164.TXT "Copyright (C) 1991 National Organization for Rare Disorders, Inc. 846: Rabies _________________________ ** IMPORTANT ** It is possible that the main title of the article (Rabies) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hydrophobia Lyssa Information on the following diseases can be found in the Related Disorders section of this report: Cerebral Malaria Guillain-Barre Syndrome Herpes Simplex Encephalitis Tetanus Typhoid General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rabies is an infectious disease that can affect all species of warmblooded animals, including man. This disorder is transmitted by the saliva of an infected animal and is caused by a virus (Neurotropic lyssavirus) that affects the salivary glands and the central nervous system. The symptoms may lead to serious complications if the virus is not treated immediately. Symptoms The symptoms of Rabies usually develop within 20-60 days after a bite or scratch from an animal infected with the rabies virus. The incubation period is the time between the exposure and the appearance of the first neurologic symptoms. The incubation period is usually shorter when the sight of exposure is closer to the brain. The initial symptoms may be a general feeling of discomfort or uneasiness, nervousness, anxiety, insomnia, depression, loss of appetite, fever, chills, cough, sore throat, headache, nausea, vomiting, and pain at the site of exposure. Serious neurological symptoms usually present themselves two to ten days after the initial symptoms. There are two types of syndromes that may develop during this neurological period: furious and/or paralytic (sluggishness and early paralysis). The hyperactive or "furious" syndrome is usually characterized by thrashing, agitation, biting, spasms of the pharynx and larynx, choking, gagging, fear of water (hydrophobia), hyperventilation (very rapid breathing), and an alteration in the rhythm of the heart beat (cardiac arrhythmias). In about twenty percent of the patients a "paralytic" syndrome may occur. This syndrome is characterized by paralysis that starts at the bottom of a limb and moves upward (especially in the extremity that has been bitten), increased blood pressure, rapid heart rate, confusion, hallucinations and disorientation. During this time the patient may have increased periods of hyperactivity, stiffness in the back of the neck, and an abnormal increase in the number of cells in the cerebrospinal fluid ending with the onset of coma or respiratory failure. Causes Rabies is caused by a lyssavirus (a form of virus that causes encephalitis) that affects the saliva and nervous system. Most cases of rabies in humans are caused by a bite or scratch from an infected animal. In at least two known cases of rabies has been contracted by breathing the air caves where there was a large number of infected bats. There have also been six recorded cases of rabies acquired by humans after cornea transplants from donors who had undiagnosed rabies. Affected Population Rabies in humans has been almost completely eliminated in most developed countries. The vaccinations of domesticated animals and elimination of stray dogs has helped control this problem. In the 1980's the U.S. Centers for Disease Control had one case per year reported. In the United States rabies is found primarily among wild animals such as skunks, foxes, bats, and raccoons. There were 49 cases of human rabies reported in the U.S. between 1960 and 1986. Only 7 of the 49 cases were acquired by exposure to rabid domesticated animals. The remainder were from wild animals. Related Disorders Symptoms of the following disorders can be similar to those of Rabies. Comparisons may be useful for a differential diagnosis: Cerebral Malaria is a serious complication of falciparum malaria. This disorder is usually seen in infants, pregnant women, and travelers who are not immune to parasites of certain regions. It is caused by a communicable parasite and is spread through the bite of the Anopheles mosquito. The symptoms may be fever of up to 104 F, severe headache, drowsiness, confusion, or delirium. (For more information on this disorder choose "Malaria" as your search term in the Rare Disease Database). Herpes Simplex Encephalitis is a sporadic disease caused by a complication of the Herpes Simplex Virus infection. The symptoms of Herpes Simplex Encephalitis may be fever, headache, convulsions, disorientation, delusions, personality changes, and coma. Paralysis may occur in less than half of the cases. Antiviral therapy is the treatment of choice. The prognosis is improved when the treatment is given during the early stages of the disease. (For more information on this disorder, choose "Herpetic Encephalitis" as your search term in the Rare Disease Database). Tetanus (Lock Jaw) is a neurologic syndrome caused by the microorganism Clostridius tetani. This microorganism usually enters the body through wounds, injections, or skin ulcers. The incubation period of tetanus is usually seven to twenty one days. Symptoms of this syndrome may be a closed mouth (Lock Jaw), low-grade fever, fear, restlessness, difficulty swallowing, stiffness, alteration in the rhythm of the heart beat, muscle spasms, and convulsions. These symptoms usually last for three to four weeks. Although tetanus is a treatable disease, vaccination is recommended during infancy and every few years thereafter. Typhoid is a bacterial infection caused by the bacterium Salmonella Typhi. Contaminated food of water is the source of typhoid is most cases. The major symptoms of this infection may include high fever, headache, loss of appetite, fatigue, abdominal pain, diarrhea, delirium, intestinal bleeding, rash, and in rare untreated cases, heart failure. (For more information on this disorder, choose "Typhoid" as your search term in the Rare Disease Database). Therapies: Standard The most effective treatment for Rabies is immediate treatment of the wound followed by immunization with the rabies vaccine. The wound should be cleansed thoroughly with soap and water and medical attention sought immediately. If the wound has broken the skin, a tetanus shot should be given. If the patient has been bitten by a wild animal that has escaped, or a domestic animal that shows signs of rabies, a series of vaccinations to prevent rabies is prescribed before the onset of symptoms. Once the disease presents itself in the patient there is no effective treatment to stop the progression. Therapies: Investigational A vaccine absorbed into an aluminum salt for both pre-exposure and post-exposure to rabies was licensed in the state of Michigan in 1988. Plans for this vaccine to be distributed in other states are being made. This vaccine is produced and distributed by the Michigan Department of Public Health. This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rabies, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road Atlanta, GA 30333 (404) 329-3534 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1587-89. CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2200-02. PRINCIPLES OF NEUROLOGY, 4th Ed.: Ronald D. Adams, and Maurice Victor, Ed., McGraw-Hill, Inc., 1989. Pp. 605-6. CONTROLLING RABIES: MAD DOGS AND FRIENDLY SKUNKS. Ken Flieger; FDA Consumer; (June 1990). Pp. 23-6. DRUG EVALUATIONS SUBSCRIPTIONS: Vol. 3: Department of Drugs, Division of Drugs and Toxicology; American Medical Association., 1990. Immu. Chap. 4 Pp. 27-30. Rabies #pagetitle 846: Rabies 04165.TXT OCopyright (C) 1986, 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 264: Radiation Syndromes _________________________ ** IMPORTANT ** It is possible the main title of the article (Radiation Syndromes) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Radiation disease Radiation reaction Radiation sickness Radiation effects Radiation illness Radiation injuries General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Radiation syndromes describe the harmful effects - acute, delayed, or chronic - produced by exposure to ionizing radiations. Tissues vary in response to immediate radiation injury according to the following descending order of sensitivity: (1) lymph cells (2) reproductive organs (3) proliferating cells of the bone marrow (4) epithelial cells of the bowel (5) top layer (epidermis) of the skin (6) liver cells (7) epithelium of the little lung sacs (alveoli) and bile passages (8) kidney epithelial cells (9) endothelial cells of the membranes around the lungs, lining the chest cavity (pleura) and the abdominal cavity (peritoneum) (10) nerve cells (11) bone cells (12) muscle and connective tissue. Generally, the more rapid the turnover of the cell, the greater the radiation sensitivity. Symptoms The following information describes radiation syndromes which can develop as a result of high doses (e.g., an atomic explosion) to small doses (e.g., repeated x-rays over a period of days or weeks). The disruption of cell renewal systems and direct injury of other tissues produce clearly defined clinical syndromes: 1. ACUTE RADIATION SYNDROMES The syndromes depend on dose, dose rate, affected area of the body, and the period of time elapsing after exposure. They are: A. CEREBRAL SYNDROME Cerebral syndrome is produced by extremely high total body doses of radiation (greater than 3000 rads). This syndrome is always fatal, and consists of three phases: a prodromal period of nausea and vomiting; then listlessness and drowsiness; and, finally, a more generalized component characterized by tremors, convulsions, impaired muscular coordination (ataxia) and death within a few hours. B. GASTRO-INTESTINAL SYNDROME This syndrome can occur when the total dose of radiation is smaller but still high (400 or more rads). It is characterized by intractable nausea, vomiting and diarrhea that lead to severe dehydration, diminished plasma volume, vascular collapse and death. C. HEMATOPOIETIC SYNDROME This syndrome occurs at exposure of between 200 to 1000 rads. Initially it is characterized by lack of appetite (anorexia), apathy, nausea and vomiting (Gastrointestinal syndrome) which may be maximal within 6 to 12 hours after exposure. Symptoms then subside so that within 24 to 36 hours after exposure the patient appears to have no symptoms. During this period of relative well-being, the lymph nodes, spleen and bone marrow begin to atrophy, leading to underproduction of all types of blood cells (pancytopenia). In the peripheral blood, lack of lymph cells (lymphopenia) commences immediately, reaching a peak within 24 to 36 hours. Lack of neutrophils, a type of white blood cell, develops more slowly. Lack of blood platelets (thrombocytopenia) may become prominent within 3 or 4 weeks. Increased susceptibility to infection develops due to a decrease in granulocytes and lymphocytes, impairment of antibody production and granulocyte migration, decreased ability to attack and kill bacteria, diminished resistance to diffusion in subcutaneous tissues, and bleeding (hemorrhagic) areas of the skin and bowel that encourage entrance and growth of bacteria. Hemorrhage occurs mainly due to the lack of blood platelets. With acute total body radiation greater than 600 rads, hematopoietic or gastrointestinal malfunction generally will be fatal. With doses of less than 600 rads, the probability of survival is inversely related to the total dose. 2. ACUTE RADIATION SICKNESS Acute "radiation sickness" following radiation therapy (particularly of the abdomen), is characterized by nausea, vomiting, diarrhea, anorexia, headache, malaise and rapid heartbeat (tachycardia) of varying severity. The discomfort subsides within a few hours or days. 3. DELAYED EFFECTS OF RADIATION A. INTERMEDIATE EFFECTS Prolonged or repeated exposure to low radiation doses from a variety of sources may produce absence of menstruation (amenorrhea), decreased fertility in both sexes, decreased libido in the female, anemia, decreased white blood cells (leukopenia), decreased blood platelets (thrombocytopenia), and cataracts. More severe or highly localized exposure causes loss of hair, skin atrophy and ulceration, thickening of the skin (keratosis), and vascular changes in the skin (telangiectasia). Ultimately it may cause a type of skin cancer called squamous cell carcinoma. Another type of cancer, osteosarcoma, may appear years after swallowing radioactive bone-seeking nuclides such as radium salts. Injury to exposed organs may occur occasionally after extensive radiation therapy for treatment of cancer. Kidney function changes include a decrease in renal plasma flow, glomerular filtration rate (GFR), and tubular function. Following a latent period of six months to one year after extremely high does of radiation, protein in the urine, kidney insufficiency, anemia and high blood pressure may develop. When cumulative kidney exposure is greater than 2000 rads in less than 5 weeks, kidney failure with diminished urine output may occur in about 37% of cases. Large accumulated doses of radiation to muscles may result in painful myopathy with atrophy and calcification. Very rarely, these changes may be followed by cancer, usually a sarcoma. Radiation pneumonitis and subsequent pulmonary fibrosis may occur when cancer metastases to the lung are irradiated. Radiation inflammation of the sac around the heart (pericarditis) and of the heart muscle (myocarditis) have been produced by extensive radiotherapy of the middle region between the lungs (the mediastinum). Myelopathy may develop after a segment of the spinal cord has received cumulative doses of greater than 4000 rads. Following vigorous therapy of abdominal lymph nodes for seminoma, lymphoma, ovarian carcinoma, or chronic ulceration, fibrosis and perforation of the bowel may develop. Skin redness (erythema) and skin ulceration were observed fairly often during the era of high voltage x-ray therapy, but the high-energy photons produced by modern cobalt units or accelerators penetrate deeply into tissues and have virtually eliminated those complications. B. LATE SOMATIC AND GENETIC EFFECTS Radiation alters the "information system" of proliferating cells of the body and germ cells. With body cells this may be manifested ultimately as somatic disease such as cancer (leukemia, thyroid, skin, bone), or cataracts. Studies of animals exposed to radiation indicate that such exposure shortens life. It is asserted, but not proven, that there is a "threshold" dose for leukemia, and that the incidence increases with dose. Thyroid cancer has been observed 20 to 30 years after x-ray treatment for adenoid and tonsillar hypertrophy. Thus x-ray treatment for nonmalignant conditions is now rarely used except in highly unusual situations. When cells are exposed to radiation, the number of mutations is increased. If mutations are perpetuated by procreation, this will cause genetic defects. The possibility of mutations presents a serious medical, ethical and philosophic problem with respect to unborn generations. It imposes a moral obligation to limit radiation exposure to an absolute minimum for valid diagnostic or therapeutic purposes, and to strictly control occupational and environmental exposure. The potential harm, however, should be kept in perspective. Some investigators suggest that no measurable effects will occur below a certain threshold while others insist that any radiation is potentially harmful. Causes In the past, harmful sources of ionizing radiation were limited primarily to high-energy x-rays used for diagnosis and therapy, and to radium and related radioactive materials. Present sources of potential radiation include nuclear reactors, cyclotrons, linear accelerators, alternating gradient synchrotons, and sealed cobalt and cesium sources for cancer therapy. Numerous artificial radioactive materials have been produced for use in medicine and industry by neutron activation in reactors. The accidental escape of moderate to large amounts of radiation from reactors has occurred several times. Radiation exposure from reactor accidents (like Chernobyl) during the first 30 years (up to 1975) resulted in more than 30 serious exposures with 7 deaths. Nuclear power generators in the United States must meet stringent federal standards that limit effluent radioactivity to extremely low levels. Although background radioactivity in the earth and the atmosphere increased during the years of atmospheric nuclear weapons testing, it appears to have generally stabilized at present levels. Ionizing radiation, whether in the form of x-rays, neutrons, protons, alpha or beta particles, or gamma-rays, produces ionization in tissues. In addition to the early somatic effects of large doses of radiation (clinically observable within days), changes in the DNA of rapidly proliferating cells may become manifest as a disease or as a genetic defect in offspring many years later. Total dose, and dose rate, determine somatic or genetic effects of radiation. The units of measurement commonly used in determining radiation exposure or dose are the roentgen, the rad and the rem. The roentgen (R) is a measure of quantity of x or gamma ionizing radiation in air. The radiation absorbed dose (rad) is the amount of energy absorbed in any substance from exposure, and applies to all types of radiation. The R and the rad are nearly equivalent in energy for practical purposes. The rem is used to correct for the observation that some types of radiation, such as neutrons, may produce more biological effect for an equivalent amount of absorbed energy; thus the rem is equal to the rad multiplied by a constant called the "quality factor". For x and gamma radiation the rem is equal to the rad. The rad and the rem are currently being replaced in the scientific nomenclature by two units that are compatible with the International System of Units, namely the gray (Gy), equal to 100 rads and the Sievert (Sv), equal to 100 rem. DOSE RATES The dose rate is the radiation dose/unit of time. From the very low dose rates of unavoidable background radiation (about 0.1 rad/yr), where no effect can be detected, the probability of measurable effects increases as the dose rate and/or total dose increases. An observable effect becomes quite certain after a single dose of several hundred rads. As a rule, large doses of radiation are of concern because of their immediate somatic effects, while low doses are of concern because of the potential for possible late somatic and long-term genetic effects. The effects of radiation exposure on an individual are cumulative. The area of the body exposed to radiation is also an important factor. The entire human body can probably absorb up to 200 rads acutely without fatality. However, as the whole-body dose approaches 450 rads the death rate will approximate 50%, and a total whole-body dose of greater than 600 rads received in a very short time will almost certainly be fatal. By contrast, many thousands of rads delivered over a long period of time (e.g. for cancer treatment), can be tolerated by the body when small volumes of tissue are irradiated. Distribution of the dose within the body is also important. For example, protection of bowel or bone marrow by appropriate shielding will permit survival of the exposed individual from what would be an otherwise fatal whole-body dose. Therapies: Standard PREVENTION To avoid fatal or serious overexposure to radiation it is necessary to rigorously enforce protective and preventative measures and adherence to the maximum permissible dose (MPD) levels. These values are listed in "Basic Radiation Criteria", NCRP Report No. 39, published by the National Council on Radiation Protection and Measurements (P.O. Box 30175, Washington, D.C. 20014). TREATMENT Contamination of the skin by radioactive materials, should be immediately removed by copious rinsing with water and special solutions containing an agent such as EDTA (ethylenediamine tetraacetic acid), a chelating agent which binds many radioactive isotopes. Small puncture wounds must be cleaned vigorously to remove contamination. Rinsing and removal of contaminated tissue are necessary until the wound is free of radioactivity. Ingested material should be removed promptly by induced vomiting or by washing out the stomach if exposure is recent. If radioiodine is inhaled or ingested in large quantities, the patient should be given Lugol's solution or saturated solution of potassium iodide to block thyroid uptake for days to weeks, and diuresis should be promoted. Monitoring of exposed patients is mandatory, using Geiger counters or sophisticated whole-body counters. Urine should be analyzed for non-gamma-emitting radionuclides if exposure to these agents is suspected. Radon breath analysis can be done in cases of suspected radium ingestion. For the acute cerebral syndrome, treatment is symptomatic and supportive. It is aimed at combating shock and lack of oxygen, relieving pain and anxiety and sedation for control of convulsions. If the gastro-intestinal syndrome develops after external whole-body irradiation, the type and degree of therapy will be dictated by the severity of the symptoms. After modest exposure, antiemetics and sedation may suffice. If oral feeding can be started, a bland diet is tolerated best. Fluid, electrolytes, and plasma may be required in huge volumes. The amount and type will be dictated by blood chemical studies (especially electrolytes and proteins), blood pressure, pulse, urine output, and skin turgor. Management of the hematopoietic syndrome, with its obvious potentially lethal factors of infection, hemorrhage and anemia, is similar to treatment of marrow hypoplasia and pancytopenia from any cause. Antibiotics, fresh blood, and platelet transfusions are the main therapeutic aids. However, a side effect of platelet transfusions may be development of an immune response to future platelet transfusions. Rigid germ-free conditions (asepsis) during all skin-puncturing procedures is mandatory as is strict isolation to prevent exposure to disease-causing germs. Concurrent anticancer chemotherapy or use of other marrow-suppressing drugs, should be avoided. Bone marrow transplants have proven helpful in some cases. If a whole body radiation dose greater than 200 rads is suspected, and if granulocytes and platelets continue to decrease and fall to less than 500 and 20,000/cu mm, respectively, compatible bone marrow transplantation should be made. With use of cyclosporin to prevent rejection of the graft, a marrow transplant will most likely increase the probability of survival. Thirteen people at Chernobyl who received estimated total body doses of radiation between 5.6 to 13.4, underwent bone marrow transplants after the Chernobyl accident. Two transplant recipients survived. Others died of various causes including burns, graft-vs-host disease, kidney failure, etc. Therefore, the success of bone marrow transplantation for radiation sickness was inconclusive. In dealing with late somatic effects due to serious chronic exposure, removal of the patient from the radiation source is the first step. With radium, thorium, or radiostrontium deposition in the body, prompt administration, orally and by injection, of chelating agents such as EDTA will increase the excretion rate. However, in the late stages these agents appear to be useless. Radiation ulcers and cancers require surgical removal and plastic repair. Radiation-induced leukemia is treated like any similar spontaneously occuring leukemia. Anemia is corrected by blood transfusion. Bleeding due to lack of platelets (thrombocytopenia) may be reduced by platelet transfusions. No effective treatment for sterility, or for ovarian and testicular dysfunction (except for hormone supplementation in some cases), is available. Therapies: Investigational Transplantation of liver tissue cells from fetuses into the bone marrow is being investigated as a substitute for bone marrow transplants, especially in young children whose immune systems have totally failed. Once the liver cells are transplanted in the bone marrow, the fetal liver cells begin to function like bone marrow cells and start producing blood cells. There is less likelihood of this procedure causing graft-versus-host disease than in bone marrow transplantation. However, this experimental procedure has not yet been proven effective in humans, so more research is needed before it can be considered as a safe and effective treatment. Eight Brazilian patients with radiation sickness were treated with granulocyte-macrophage colony stimulating factor (GM-CSF) during 1987. This is a genetically-engineered version of a natural human protein. GM-CSF may boost the immune system, which is destroyed by excessive radiation, by stimulating production of certain white blood cells (granulocytes in the bone marrow.) Four of the eight Brazilian radiation victims showed a significant recovery of their immune systems, but four others died. More research is needed to determine the safety and effectiveness of this treatment. This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Radiation Syndromes, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Association of Radiation Survivors (NARS) 78 El Camino Real Berkeley, CA 94705 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 Leukemia Society of America 733 Third Avenue New York, NY 10017 (212) 573-8484 National Council on Radiation Protection and Measurements 7910 Woodmont Avenue Bethesda, MD 20814 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 References Basic Radiation Protection Criteria; recommendations of the National Council on Radiation Protection and Measurements, National Council on Radiation Protection and Measurements (1984). BONE MARROW TRANSPLANTATION AFTER THE CHERNOBYL ACCIDENT, Alexandr Baranov, et al.; N Eng J of Med. (July 27, 1989, issue 321, (4)). Pp. 205-212. Radiation Syndromes Qpagetitle 264: Radiation Syndromes 04166.TXT (Copyright (C) 1989 National Organization for Rare Disorders, Inc. 715: Rapp-Hodgkins Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Rapp-Hodgkins Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms RHS Dominant Hypohidrotic Ectodermal Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Zanier-Roubicek Syndrome Jorgenson's Syndrome Hallermann-Streiff Syndrome Johanson-Blizzard Syndrome Christ-Siemens-Touraine Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Rapp-Hodgkins Syndrome is one of a group of rare genetic skin disorders known as the Ectodermal Dysplasias. Major symptoms may include absence of the ability to sweat in combination with cleft lip and palate, dental abnormalities and lack of hair. Symptoms In the Rapp-Hodgkins Syndrome the patient may or may not be able to sweat. If they are able to sweat it is not at a normal rate, which can cause the patient to easily become overheated (Hyperthermia). The patient usually has a cleft lip, cleft palate, an absence of or abnormal development of teeth, and an absence of scalp hair and eyebrows. The patient's eyes may be unusually sensitive to light, and have corneal opacities and other eye defects with a tendency to develop eye infections. The ears may be large and malformed, and prone to repeated infections. There may be associated hearing and speech problems. The Rapp-Hodgkins patient may also be of a short stature and have joined fingers or toes. The opening of the urethra may be below the normal opening in the vagina or penis. The nails of the fingers and toes may not develop normally. The face may have a low nasal bridge, a narrow nose, underdeveloped jaw and high forehead. Causes Rapp-Hodgkins Syndrome is the result of autosomal dominant inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Rapp-Hodgkins Syndrome is a rare disease affecting males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Rapp-Hodgkins Syndrome. Comparisons may be useful for a differential diagnosis: Zanier-Roubicek Syndrome is a form of Ectodermal Dysplasia which is often associated with severe overheating because of the inability to sweat. There is usually normal sweating, however, on the palms and soles. The patient usually shows a lack of hair on the head but normal eyebrows and eyelashes. Patients have fewer than the normal number of teeth with yellow discoloration of the ones that are present. The finger and toe nails are brittle. A lack of tearing of the eyes may also occur, as well as underdevelopment of the breasts. The syndrome is transmitted as an autosomal recessive trait. Intelligence is usually normal. Jorgenson's Syndrome is another form of ectodermal dysplasia characterized by the inability to sweat properly, a lack of hair and tooth growth, and unusual skin problems. These patients do sweat but the amount is very slight. There is lack of growth of eyebrows and eyelashes, and the patient is usually bald by the teen years. The skin is dry with fine fingerprints (dermal ridges) on the hands and feet. There are abnormal amounts of cavities in the baby teeth and a lack of development of some of the permanent teeth. The patient usually has a long, thin nose, thin upper lip and a long space between the nose and mouth (philtrum). Hallermann-Streiff Syndrome is an autosomal recessive form of Ectodermal Dysplasia. It is characterized by a lack of hair on the head and tooth abnormalities. There may be too many teeth, failure of baby teeth to fall out, and a lack of tooth enamel. Patients have similar faces with narrow, small, pointed noses, small jaws, small mouth with thin lips, a short head and bulging of the forehead. Eye problems may include cataracts, crossed eyes, and blue coloring in the whites of the eyes. There may be a narrow high-arched palate and a delay in the growth of the bones. (For more information on this disorder, choose "Hallermann" as your search term in the Rare Disease Database). Johanson-Blizzard Syndrome, another form of ectodermal dysplasia, is characterized by nose, scalp and hair defects, as well as a lack of teeth, deafness, short stature, lack of motor development and malabsorption problems. The most striking development of this syndrome is the beaklike appearance of the nose. Three fourths of the patients have a protrusion over the rear fontanelle of the skull at birth which gets thick and hard as the child grows. Their teeth are peg-shaped and they have thin hair which sweeps up from the forehead. The patients show marked hearing loss from birth as well as motor and mental retardation. Bone growth is delayed and there may be associated intestinal, absorption and genital defects. The form of ectodermal dysplasia known as Christ-Siemens-Touraine Syndrome is characterized by lack of development of teeth, reduced ability to sweat resulting in heat intolerance, and loss of hair. The face may have a bulging forehead and chin, sunken cheeks, broad flat nose, thick lips and fine, wrinkled skin around the eyes. (For more information on these disorders, choose "Ectodermal Dysplasia" as you search term in the Rare Disease Database). Therapies: Standard No cure for the underlying causes of Ectodermal Dysplasias are known. Genetic counseling may be of benefit for Rapp-Hodgkins patients and their families. Surgery may be necessary for the repair of cleft lip and palate. False teeth may be needed in order to eat properly and hearing aids, etc., may be required. Over the counter creams may relieve skin discomfort. Heat and excessive exercise should be avoided. Vaccines and anti-infectious agents are used to reduce infections of the skin and respiratory tract. Other treatment is symptomatic and supportive. Therapies: Investigational The National Institute of Dental Research in Bethesda, MD, is conducting a research project to evaluate dental treatment of individuals who have Ectodermal Dysplasias. Treatment will consist of either conventional removable dentures or fixed dentures supported by dental implants. The project is designed to evaluate the effect of dental implants on such things as satisfaction with treatment, the ability to chew foods, and maintenance of the bone that supports the dentures. To be eligible to participate in this study, individuals must have one of the ectodermal dysplasias, be missing several teeth, and be between the ages of twelve and seventy years. A complete oral and dental examination will be provided to determine if an individual qualifies for the five years study. Financial aid is expected to be available to help defray travel and lodging expenses for trips to Bethesda, MD. For additional information, physicians can contact: Albert D. Guckes, M.D. Dental Clinic, NIDR Bldg. 10, Rm. 6S-255 National Institutes of Health Bethesda, MD 20892 (301) 496-4371 or 2944 This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rapp-Hodgkin's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 108 North First, Suite 311 Mascoutah, IL 62258 (618) 566-2020 NIH/National Arthritis and Musculoskeletal and Skin Disease Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT National Cleft Palate Association 2950 Hearne Ave Shreveport, LA 71103 (318) 635-8191 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 215-216. RAPP-HODGKIN ECTODERMAL DYSPLASIA. H.W. Schroeder, Jr. et al.; J Pediatr (January, 1987, issue 110 (1)). Pp. 72-75. RAPP-HODGKIN SYNDROME; OBSERVATIONS ON TEN CASES AND CHARACTERISTIC HAIR CHANGES (PILI CANALICULE). C.F. Salinas, et al.; Birth Defects (1988, issue 24 (2)). Pp. 149-168. RAPP-HODGKIN SYNDROME: AN ECTODERMAL DYSPLASIA INVOLVING THE TEETH, HAIR, NAILS, AND PALATE. REPORT OF A CASE AND REVIEW OF THE LITERATURE. Oral Surg Oral Med Oral Pathol (January, 1989, issue 67 (1)). Pp. 50-62. DISTINCTIVE HAIR CHANGES (PILI TORTI) IN RAPP-HODGKIN ECTODERMAL DYSPLASIA SYNDROME. Clin Genet (May, 1982, issue 21 (5)). Pp. 297-300. Rapp-Hodgkins Syndrome )pagetitle 715: Rapp-Hodgkins Syndrome 04167.TXT Copyright (C) 1986, 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 92: Raynaud's Disease and Phenomenon _________________________ General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Raynaud's Disease and Raynaud's Phenomenon are vascular disorders. These disorders are spasms of arterioles occurring especially in the fingers and toes and occasionally in other acral parts of the body such as the nose and tongue. The intermittent attacks of pallor or cyanosis of the digits may be precipitated by exposure to cold or by emotional upsets. It may be either idiopathic or secondary to other conditions. Symptoms Attacks of the disorders known as Raynaud's Disease and Phenomenon occur more frequently in cold rather than hot weather. Symptoms associated with Raynaud's Disease (unless stated otherwise the use of the term Raynaud's Disease will also include Raynaud's Phenomenon) may include a feeling of numbness and coldness of the toes or fingers. Only one or two fingertips may be involved early in the course of the disease. As the disorder progresses, all the fingers down to the distal palm may be affected, although the thumbs are rarely involved. Patients may experience sensory changes accompanying the vasomotor manifestations such as an aching pain, tingling feeling, or throbbing in the afflicted digits. There may be the sensation of tightness or pins and needles. Onset is usually in the first or second decade of life. The vasospasm attacks may last for minutes to hours, but are rarely severe enough to result in gross tissue loss. The intermittent attacks of cyanosis or blanching may be precipitated by exposure to cold or by emotional upsets. The color changes in Raynaud's Phenomenon may be either triphasic (pallor, cyanosis, and redness followed by reactive hyperemia) or biphasic (cyanosis followed by reactive hyperemia). Rewarming the affected digits results in a return to normal color and sensation. Raynaud's Disease is much rarer than Raynaud's Phenomenon. Raynaud's Disease is usually benign, causing only mild discomfort and progressing very slightly over the years. In some cases, however, there is a rapid progression of the disorder which may result in sclerodactyly (loss of subcutaneous tissue) or small painful ulcers may appear on the tips of the affected digits. Raynaud's Disease is suspected when there appears to be no evidence for an underlying cause, while Raynaud's Phenomenon occurs as a secondary characteristic to another disorder. Causes The cause of Raynaud's Disease is generally unknown. It can occur as a symptom of other disorders or it may possibly be a hereditary disorder. It may also be related to a local sensitivity of the digital vessels to cold, or the bilateral paroxysmal contraction of arteries and arterioles of the fingers or toes may occur without apparent cause. The attacks of the disease may be precipitated by exposure to cold or occasionally by emotional upsets. Raynaud's Phenomenon may also occur as a secondary characteristic to other disorders. It may be related to conditions such as connective tissue disorders (e.g., scleroderma or systemic lupus erythematosus), neurogenic lesions (including the thoracic outlet syndromes), drug intoxications (ergot and methysergide), dysproteinemias, myxedema, primary pulmonary hypertension, and trauma. (For related information, choose "scleroderma" and "lupus" as your search terms in the Rare Disease Database.) Research is currently ongoing at the University of Carolina to identify criteria that will be useful to predict whether or not Raynaud's Phenomenon will develop into Scleroderma. Affected Population Raynaud's Disease and Raynaud's Phenomenon occur predominantly in women. It is less common before puberty and after the age of forty years. Therapies: Standard Therapy for secondary forms of this disorder is dependant upon recognition and treatment of the underlying disturbance. Mild cases of Raynaud's Disease may be controlled by protecting the patient from exposure to cold and by the use of mild sedatives such as phenobarbital. Since nicotine is a vasoconstrictor, the patient must stop smoking. Phenoxybenzamine, guanethidine, reserpine, and methyldopa have also been useful in treatment. Occasionally, regional sympathectomy (surgical removal of the sheath of an artery containing the sympathetic nerve fibers which leads to improved vasodilatation) may benefit patients. Sympathectomy generally produces better results in patients with Raynaud's disease than in those with Raynaud's Phenomenon. Therapies: Investigational The disordered blood flow in the fingers of Raynaud's disease may be treatable with the drug ketanserin, an antagonist of serotonin. More research is needed before this drug will be available for more general use. Recent research by the U.S. Army indicates that the body may be tricked into circulating blood to the hands even in cold weather. Three to six times each day Raynaud's patients sat indoors with their hands submerged in warm water. Then they were put into a cold environment where their body was exposed to cold temperatures except their hands, which were submerged in an ice chest filled with warm water. After 50 rounds of this treatment, 150 test subjects were able to go out in cold weather without losing circulation in their hands. More research is needed to determine if this treatment will work for many people over an extended period of time. Scientists are studying a new orphan drug, Iloprost, for treatment of Raynaud's Phenomenon when it occurs along with Scleroderma. The drug is manufactured by Berflex Laboratories. More research is needed to determine the safety and effectiveness of this experimental treatment. New treatment agents are being tested for Raynaud's Disease. They include the calcium antagonist, nifedipine and the ACE-inhibitor, captopril (both manufactured by Bristol-Myers Squibb; the alpha-blocker, Thymoxamine (Parke-Davis' Opilon); and Janssen's serotonin receptor antagonist, ketanserin, according to a recent editorial in the British Medical Journal (March 3, 1990, p. 553). This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Raynaud's Disease and Phenomenon, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Raynaud's Association Trust 112 Crewe Rd. Alsager, Cheshire, ST7 2JA England NIH/National Heart, Lung, and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 369, 375-7. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 562. Raynaud's Disease and Phenomenon/ pagetitle 92: Raynaud's Disease and Phenomenon 04168.TXT -Copyright (C) 1986, 1987 National Organization for Rare Disorders, Inc. 184: Reflex Sympathetic Dystrophy Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Reflex Sympathetic Dystrophy Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms RSDS Causalgia Syndrome - Major or Minor Shoulder-Hand Syndrome Sudeck's Atrophy Algodystrophy Algoneurodystrophy Reflex Neurovascular Dystrophy Steinbrocker Syndrome Post-Traumatic Osteoporosis Post-Traumatic Dystrophy - Major or Minor Osteodystrophy Traumatic Vasospasm Acute Bone Atrophy Traumatic Angiospasm Information on the following disorders can be found in the Related Disorders section of this report: Erythromelalgia Carpal Tunnel Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Reflex Sympathetic Dystrophy Syndrome (RSDS) is a term encompassing a group of chronic pain syndromes. Symptoms include severe pain and alternating constriction and dilation of blood vessels after trauma, often minor in nature. Other cases of RSDS can begin spontaneously. Symptoms can become chronic if treatment is not begun as soon as possible after diagnosis. However, diagnosis and treatment are difficult due to the wide variety of body areas which can be affected. Also, RSDS can easily be misdiagnosed as a nerve injury which is characterized by similar painful symptoms. Symptoms Most people with Reflex Sympathetic Dystrophy Syndrome (RSDS) initially report severe burning pain and stiffness in an arm or leg at the site of a previous injury. This painful area usually extends beyond the location of the earlier injury. Severity of pain may be out of proportion to the injury. The pain may be described as a burning or aching sensation and is often associated with tenderness, swelling, stiffness, excessive perspiration and altered sensitivity. Heat may intensify the pain. Decreased range of motion of the affected area, as well as skin redness, may accompany pain in early stages of this disorder. In some cases, rapid nail and hair growth may occur. As the condition progresses, pain can further intensify. Exposure of the affected area to cold and/or windy weather may increase pain. Hair and nail growth may decrease at this stage. Swelling may be more prominent, and in some cases the skin may become pitted. Range of motion may become severely restricted. The skin can appear pale and/or have a slightly bluish discoloration (cyanosis). Areas of increased and/or decreased sensitivity to both pain and stimulation may develop. Motor weakness, skin atrophy and excessive perspiration may also occur in this stage of RSDS. In a prolonged or later stage, some patients may report a decrease in pain; however, most are left with intractable pain and increased sensitivity to stimulation. Smooth shiny skin, muscle atrophy, loss of strength, and severe contractions of tendons are also found in patients with longstanding cases. At this late stage, changes can become permanent and only mild improvement may be obtained through treatment. Some patients with RSDS may not progress beyond the initial milder stages of symptoms, while others may progress to the most advanced and painful stages. Symptoms may occur on both sides of the body in some cases. Although RSDS is usually seen in a limb, it may affect any area of the body. Causes The exact cause of Reflex Sympathetic Dystrophy Syndrome (RSDS) is not well understood. After minor injuries, peripheral nerves may become irritated and hypersensitive due to overstimulation by the sympathetic nervous system. The decrease of blood circulation in the affected area may lead to other symptoms. RSDS may also follow other conditions including infections, radiation therapy, muscular weakness or partial paralysis affecting one side of the body (hemiparesis), and heat or electrical burns. Heart diseases due to obstruction or constriction of coronary arteries (myocardial ischemia), deficient oxygen supply to the heart (angina pectoris), or interruption of the blood supply to the heart due to blood clotting inside the heart muscle wall (myocardial infarction) may also precede RSDS. Disorders caused by "slipped disks" or discogenic disease, and a degenerative joint disorder of the neck known as cervical osteoarthritis may also be related to the onset of RSDS. However, in approximately thirty percent of patients, no precipitating factors (such as an injury) can be identified. Affected Population Reflex Sympathetic Dystrophy Syndrome seems to affect women more often than men. The disorder is more common among people over fifty years of age; however, it may also occur in children and young adults. Related Disorders The following disorders are similar to Reflex Sympathetic Dystrophy Syndrome. Comparisons may be useful for a differential diagnosis: Erythromelalgia is a genetic peripheral blood vessel disorder that causes intense burning pain in the feet and/or hands. It differs from Traumatic Erythromelalgia because onset is not related to an injury. (For more information on this disorder, choose "Erythromelalgia" as your search term in the Rare Disease Database). Carpal Tunnel Syndrome is a common compression of peripheral nerves in the wrist that can be confused with other nerve and muscle disorders with similar symptoms. Initial symptoms consist of occasional numbness in the hand that can gradually become constant. Patients may awaken at night with pain ("pins and needles" sensation) and numbness in the hand. A loss of grip may accompany the numbness due to the lack of sensation and muscle wasting. Pain in the arm, shoulder and/or neck may also occur. An injury or swelling that narrows the carpal canal in the wrist puts pressure on the median nerve causing Carpal Tunnel Syndrome. Other seemingly unrelated conditions including sports injuries or occupational hazards may also cause this disorder. Females are affected five times more frequently than males, usually between the ages of forty to fifty years. (For more information on this disorder, choose "Carpal Tunnel" as your search term in the Rare Disease Database). Therapies: Standard Although no standard treatment for Reflex Sympathetic Dystrophy Syndrome (RSDS) has been developed, prevention and early treatment of symptoms are thought to be the most successful options. Daily physical therapy is recommended as soon as a diagnosis of Reflex Sympathetic Dystrophy Syndrome (RSDS) is confirmed. Splinting of the affected area while the patient is at rest may prevent muscle contraction deformities, especially in the hand. Ice or heat applications should be avoided in most cases since they may result in overstimulation of nerve endings leading to increased discomfort. Whirlpool and paraffin wax baths may be beneficial in some cases. Transcutaneous electrical nerve stimulation may be used in the early stages of RSDS or added to an existing therapy program. This procedure can alter nerve transmissions to block pain impulses. Glucocorticosteroids (local or systemic) can be effective but must be used with caution. Side effects are rarely seen with the lower dosages recommended to treat Reflex Sympathetic Dystrophy Syndrome (RSDS), but weight gain, facial swelling (moon faces) and digestive upsets have been reported. Other drugs including non-steroidal anti-inflammatory medications, analgesics and muscle relaxants have been found useful in some cases. Sympathetic blockade (local or regional) can be useful to treat later stages of RSDS. For patients with pain in an upper extremity, a stellate ganglion block can be performed. The block is considered successful if the patient reports significant pain relief, as well as the return of blood circulation to the affected area. Blocks can be given in a series, or as indicated by the relief of symptoms. For patients with lower extremity pain, a lumbar sympathetic block can be performed. Sympathetic blocks have a unique advantage in that they can confirm the diagnosis of RSDS, as well as provide rapid relief in some cases. Nerve section removal (sympathectomy), either surgical or chemical, may be recommended for patients who gain only temporary relief from sympathetic nerve blockade. Nerve blocking drugs (alpha and beta nerve blockers) can be administered. These may include intravenous regional administration of nerve blocking drugs such guanethidine (an orphan drug), and electroacupuncture (used only in mild cases). Also, the beta blocking drug propranolol, the drug nifedipine (used for dilating heart vessels), the anticonvulsant drug phenytoin, and tricyclics (antidepressants) have been used with occasional success. Therapies: Investigational Treatments under investigation for Reflex Sympathetic Dystrophy Syndrome (RSDS) include Dorsal Column Stimulation and an implanted morphine pump. Dorsal Column Stimulation involves a spinal implant device which shows promise based on preliminary investigation. A similar device, the Implanted Morphine Pump, is being tested to deliver morphine directly to the spinal fluid where it can circulate to several areas of the body. The morphine pump shows promise for relieving pain in cases of RSDS involving several body areas where no other treatment has been successful. However, treatment with morphine carries heavy risks. Extensive testing will be necessary before these treatments can be recommended for use except in cases wherein all other options are unsuccessful. Guanethidine monosulfate is being used experimentally as a treatment for Reflex Sympathetic Dystrophy. For additional information, physicians can contact: Ciba-Geigy Corp. 556 Morris Ave. Summit, NJ 07901 For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through October 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Reflex Sympathetic Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Reflex Sympathetic Dystrophy Syndrome Association (RSDSA) 116 Haddon Ave., Suite D Haddonfield, NJ 08033 The Arthritis Foundation 1314 Spring Street Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References REFLEX SYMPATHETIC DYSTROPHY SYNDROME: DIAGNOSIS AND TREATMENT: Robert W. Rothrock, PA-C and David Weiss, D.O.; Osteopathic Medical News (February 1987 issue). Pp. 20-25. Reflex Sympathetic Dystrophy Syndrome .pagetitle 184: Reflex Sympathetic Dystrophy Syndrome 04169.TXT !Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 348: Refsum Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Refsum Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Refsum Disease Disorder of Cornification 11 (Phytanic Acid Type DOC 11 (Phytanic Acid Type) Heredopathia Atactica Polyneuritiformis Hypertrophic Neuropathy of Refsum Phytanic Acid Storage Disease Information on the following diseases can be found in the Related Disorders section of this report: Acanthocytosis Tay Sachs Disease Gaucher's Disease Niemann-Pick Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Refsum Syndrome is a rare disorder of lipid metabolism inherited as a recessive trait. Symptoms may include a degenerative nerve disease (peripheral neuropathy), failure of muscle coordination (ataxia), retinitis pigmentosa (a progressive vision disorder), and bone and skin changes. This disorder is believed to be due to the absence of phytanic acid hydroxylase in the blood, an enzyme needed for the metabolism of phytanic acid (found in dairy products, beef, lamb and some seafoods). Refsum Syndrome is characterized by a marked accumulation of phytanic acid in the plasma and tissues. Prolonged treatment with a diet deficient in phytanic acid can be beneficial. This slowly progressive disorder is most common in children and young adults of Scandinavian heritage. Phytanic Acid is a derivative of phytol, a component of chlorophyll. Symptoms Symptoms of Refsum Syndrome may include progressive nerve deafness, dry scaly skin (ichthyosis), and night blindness possibly due to degenerative changes in the retina of the eye. Skin problems associated with Refsum Syndrome include an unusual burning or prickling sensation (paresthesia) of arms and legs. Neurological symptoms include unsteady walking with frequent falls (ataxia), and peripheral neuropathy (characterized by sensory, motor, and reflex changes). (For more information, choose "ataxia" and "neuropathy" as your search terms in the Rare Disease Database). Causes Refsum Syndrome is inherited as a recessive trait. A defect in the metabolism of phytanic acid leads to an accumulation of phytanic acid in the blood plasma and tissues of the body. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Refsum Syndrome is usually found in children and young adults of Scandinavian heritage. This disorder can affect more than one person in a single family and occurs in males and females in equal numbers. Related Disorders There are many disorders caused by abnormal lipid metabolism. Acanthocytosis, also known as Lipoprotein Deficiency, is inherited as a recessive trait, and tends to occur more than once in families where it is found. This rare disorder usually begins in the first year of life and is marked by malnutrition, growth retardation, abdominal distention, and progressive neurological dysfunction. Curvature of the spine, muscle coordination impairment (ataxia), and eye problems including pigmentary retinal degeneration beginning at about ten years of age may also be symptomatic of Acanthocytosis. Gaucher's Disease is an inherited disease of lipid metabolism caused by the failure to produce the enzyme glucocerebrosidase. It is the most common of the fourteen known lipid storage disorders which includes Tay-Sachs Disease, Fabry's Disease, and Niemann-Pick Disease. There are three types of Gaucher's Disease - Type I, II, and III. All three are characterized by the presence of Gaucher (lipid-laden) cells in the bone marrow and other organs such as the spleen and liver. Tay-Sachs Disease is an infantile form of Ceroid-Lipofuscinosis. Tay-Sachs is a genetic disorder that causes the progressive destruction of the central nervous system. It is generally found among children of Eastern European Jewish heritage and becomes clinically apparent at about six months of age. Niemann-Pick Disease is a rare, familial disorder of lipid metabolism characterized by the accumulation of sphingomyelin and cholesterol in the reticuloendothelial cells. There are at least five different forms of this type of lipidosis. (For more information on these disorders, choose "Gaucher," "Tay-Sachs," "Fabry," "Niemann," and "Acanthocytosis" as your search terms in the Rare Disease Database). Therapies: Standard Treatment of Refsum Syndrome involves following a strict diet low in phytanic acid (found in dairy products, beef, lamb and some seafoods) and high in calories. Other treatment is symptomatic and supportive. Therapies: Investigational Plasmapheresis as a treatment for Refsum Syndrome is being tested by scientists and appears to hold promise in improving the neurological and muscle coordination problems associated with this disorder. Plasmapheresis (plasma exchange) is a method for removing unwanted substances (toxins, metabolic substances, and plasma parts) from the blood. It is performed by removing blood, separating the plasma from the other blood products, and replacing the patient's plasma with other human plasma. More investigation is necessary, however, before this treatment can gain acceptance as a standard treatment for Refsum Syndrome. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Refsum Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 895-3211 (800) 728-5483 RP Foundation Fighting Blindness 1401 Mt. Royal Avenue, 4th Floor Baltimore, MD 21217-4245 (800) 638-2300 (301) 225-9400 TDD (301) 225-9409 (for the deaf) NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUM'S DISEASE) TREATED BY DIET AND PLASMA-EXCHANGE : F.B. Gibberd, et. al.; Lancet. (1986, Issue 1 (8116)). Pp. 575-578. CLINICAL PICTURE AND PATHOGENESIS OF THE REFSUM SYNDROME: A.M. Shevchenko; Zh Nevropatol Psikhiatr (1977, issue 77(6)). Pp. 832-837. Refsum Syndrome "pagetitle 348: Refsum Syndrome 04170.TXT @'/'Copyright (C) 1991 National Organization for Rare Disorders, Inc. 844: Reifenstein Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Reifenstein Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Androgen Insensitivity Syndrome, Partial Gilbert-Dreyfus Syndrome Incomplete Testicular Feminization Lubs Syndrome Rosewater Syndrome Type I Familial Incomplete Male Pseudohermaphroditis Information on the following diseases can be found in the Related Disorders section of this report: Klinefelter Syndrome Male Pseudohermaphroditism 17-Beta Hydroxysteroid Dehydrogenase Deficiency (also known as 17- Ketosteroid reductase Deficiency and 17-Beta HSD) 17-Alpha Hydroxylase Deficiency (also known as 17-Hydroxylation Deficiency) 3-Beta Hydroxysteroid Dehydrogenase Deficiency (also known as 3-Beta-HSD Deficiency) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Reifenstein Syndrome (Partial Androgen Insensitivity) is a hereditary form of male pseudohermaphroditism, a condition in which the male has testes but possesses both male and female sexual characteristics. The severity of androgen (male hormone) insensitivity determines how this syndrome will present itself. In mild cases of androgen resistance, infertility may be the only symptom. More severe cases may result in hardening of the tubules in the testis, failure of one or both testes to descend, an abnormal penis in which the urethra opens on the underside, and development of male breasts. The degree of feminization at puberty is not as marked as in other forms of pseudohermaphroditism. Symptoms The symptoms of Reifenstein Syndrome (Partial Androgen Insensitivity) can vary greatly. In the least severe cases, the only symptom that presents itself may be infertility which is related to hardening of the tubules in the testis (seminiferous tubular sclerosis), and either very little or no sperm in the semen. In more severe cases, an abnormal penis in which the urethra opens on the underside (hypospadias), impaired production of male hormones due to dysfunction of gonads (hypogonadism), and excessive development of the male breasts (gynecomastia) may also occur. One or both testes may fail to descend normally, and a decrease in the functioning of the cells in the testis that produce androgens (leydic cell hyperplasia) may lead to impotence later in life. Facial and chest hair may be sparse or missing and the voice may have a high pitch. Causes Reifenstein Syndrome (Partial Androgen Insensitivity) is inherited as an X-Linked Recessive disorder. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Reifenstein Syndrome is a very rare genetic disorder. This disorder only occurs in males but females are the carriers of the genetic defect. There have been many reports of multiple males in a family inheriting the syndrome. Related Disorders Symptoms of the following disorders can be similar to those of Reifenstein Syndrome. Comparisons may be useful for a differential diagnosis: Klinefelter Syndrome is a disorder resulting from an excess of X chromosomes. This disorder affects males only and is characterized by small testes, lack of sperm, enlarged mammary glands and an abnormally small penis. There may also be a retardation of sex organ development, an absence of facial and body hair, lack of muscular development and a high pitched voice. (For more information on this disorder, choose "Klinefelter" as your search term in the Rare Disease Database). Male Pseudohermaphroditism is a genetic disorder in which the individual has testes but possesses both female and male bodily sexual characteristics. The body type is usually female and the male characteristics are not apparent until puberty. 17-Beta Hydroxysteroid Dehydrogenase Deficiency (also known as 17-Ketosteroid Reductase Deficiency and 17-Beta HSD) is a disorder in which the production of steroids is impaired. Male pseudohermaphroditis is present and there is no enlargement of the adrenal gland. This genetic defect is inherited as either autosomal recessive or X-linked recessive. 17-Alpha Hydroxylase Deficiency (also known as 17-Hydroxylation Deficiency) is a disorder that usually goes undetected until adolescence. The adrenal gland and testes fail to produce androgens, while the ovaries produce no estrogens. Because males are not exposed to androgens during fetal development they are born with female external genitalia, although testes are buried within the abdominal cavity. Failure to menstruate or to develop secondary sexual traits such a breasts or body hair, as well as high blood pressure (hypertension) and low blood levels of potassium are characteristic. 3-Beta Hydroxysteroid Dehydrogenase Deficiency (also known as 3-Beta-HSD) is a deficiency of 3-Beta-HSD that occurs early in the chain of reactions required to produce adrenal steroid hormones. Hormones such as androgens, glucocorticoids, and mineralocorticoids all fail to be manufactured and affected infants usually survive no more than a few hours. Boys are born with female or ambiguous external genitalia. Females may have slight male characteristics because a weak form of androgen is present. However, a few patients with incomplete forms of this disorder do not show symptoms until later in childhood or adulthood. Their first menstruation may occur between the ages of 4 and 8, an enlarged clitoris is present, acne and advanced maturation of the skeleton may be seen, and there is unusual hairiness (hirsutism). Because this disorder expresses itself in a variety of ways, it has been suggested that several different genes may be involved. Therapies: Standard The use of drugs that replace testosterone at an early age may restore fertility in males with Reifenstein Syndrome. Males with less severe forms of the syndrome such as the abnormality of the penis in which the urethra opens on the underside, may have corrective surgery. Corrective surgery may also be done on enlarged breasts in males. Patients with more severe defects may be raised as females and have corrective surgery performed before puberty. These patients may use estrogen therapy at puberty. Genetic counseling may be of benefit for patients and their families. The treatment is symptomatic and supportive. Therapies: Investigational The orphan drug Testosterone Sublingual is being tested for treatment of the delay in growth and puberty in boys with Reifenstein Syndrome. This drug is being manufactured by GYNEX, INC., 1175 Corporate Woods Parkway., Vernon Hills, Il 60061. This disease entry is based upon medical information available through April 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Reifenstein Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dr. John Money Johns Hopkins University Professor, Pediatrics and Psychology 600 N. Wolfe Street Baltimore, MD 21205 Hermaphrodite Association for Rehabilitative Transition P.O. Box 1303 High Springs, FL 32643 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Finding Our Own Way P.O. Box 1545 Lawrence, KS 66044 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1711. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., eds.; McGraw Hill, 1989. Pp. 1931-32. CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1399-1400, 1418. CLINICAL AND ENDOCRINOLOGICAL CHARACTERIZATION OF TWO SUBJECTS WITH REIFENSTEIN SYNDROME ASSOCIATED WITH QUALITATIVE ABNORMALITIES OF THE ANDROGEN RECEPTOR: H.U. Schweikert et al.; Human Res (1987: issue 25(2)). Pp. 72-9.. Reifenstein SyndromeC( F(pagetitle 844: Reifenstein Syndrome 04139.TXT Copyright (C) 1986, 1987, 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 287: Progressive Supranuclear Palsy _________________________ ** IMPORTANT ** It is possible the main title of the article (Progressive Supranuclear Palsy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PSP Steele-Richardson-Olszewski syndrome Nuchal Dystonia Dementia syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Progressive Supranuclear Palsy (PSP) is a neurologic disorder associated with spastic weakness of muscles affected by the cranial nerves; i.e., muscles of the face, throat and tongue. Onset of this disorder occurs usually during middle age. Symptoms The first noticeable symptom of Progressive Supranuclear Palsy (PSP) is usually loss of balance while walking. Patients may have unexplained falls or a stiff awkwardness in the walk. Other symptoms may resemble Parkinson's disease. (For more information on Parkinson's Disease, please choose "Parkinson" as your search term in the Rare Disease Database.) Other common early symptoms include forgetfulness and personality changes such as loss of interest in formerly pleasurable activities or increased irritability. Less common symptoms are vision disturbances, slurred speech and mild shaking in the hands. New symptoms can develop during the course of PSP, and previously mild problems tend to become more severe with time. Blurred vision usually develops three to five years after the walking problems, and is characterized as an inability to aim the eyes properly or to move them up or down. This is caused by a weakness or paralysis (palsy) of the muscles that move the eyeballs. Eventually, reading, driving, or even maintaining eye contact becomes difficult because the eyes may not aim or focus properly. Additionally, abnormal eyelid control can develop. Eyes may close involuntarily (blepharospasm) for seconds or minutes. Some patients may not be able to open their eyes at times, and others may have trouble closing their eyes or may blink much less than normal. This can cause the eyes to become dry and red. Movements of the mouth, tongue and throat are also affected in PSP. Speech usually becomes slurred three or four years after symptoms first begin. Similarly, swallowing some foods can become difficult because of throat muscle weakness. This tends to occur after the walking, vision, and speech problems appear. Slight forgetfulness, personality changes and poor eye contact during conversations can give an incorrect impression of senility. Although mental confusion in patients with PSP is mostly only an impression, a mild or moderate degree of mental impairment eventually occurs which may be misdiagnosed as Alzheimer's Disease (AD). (For more information on Alzheimer's Disease, please choose "Alzheimer" as your search term in the Rare Disease Database.) Causes The cause of Progressive Supranuclear Palsy is unknown. It is possibly a long-term degenerative process caused by an unknown slow virus. Slow viruses tend to stay dormant in humans for extended periods of time, then for reasons yet unknown, become activated. Some scientists believe that viruses are not involved , and that exposure to some unknown chemical may cause PSP by slowly damaging certain areas of the brain. The poor control of vertical gaze and oral-pharyngeal movement is indicative of damage to corticobulbar regulatory pathways of the brain. Affected Population Progressive Supranuclear Palsy affects approximately 20,000 people in the United States. It usually begins during middle age and predominantly affects males. Related Disorders Lacunar State is a similar neurologic disorder which is differentiated from Progressive Supranuclear Palsy by the history of a step-wise progression of symptoms that seems characteristic of strokes. Pseudobulbar Palsy is a disorder characterized by an inability to control movements such as chewing, swallowing and talking. The term "bulbar palsy" means a paralysis of the part of the brain (the bulb) which controls these movements. Pseudobulbar Palsy is usually the result of multiple strokes. The patient often smiles, laughs or cries uncontrollably, but his ability to move his eyes is normal. Parkinson's Disease (PD) is a progressive neurologic disorder characterized by tremor, muscular rigidity, slowness in initiating movements and difficulty in maintaining balance. (For more information on this disorder, choose "Parkinson" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Progressive Supranuclear Palsy is symptomatic and supportive. Tricyclic antidepressant drugs such as amitriptyline (Elavil) and imipramine (Tofranil) help relieve some of the symptoms of PSP. Some other drugs that can improve the muscle rigidity and slow voluntary movements (extrapyramidal symptoms) temporarily when used in the early stages of the disorder, are the drugs bromocriptine (Parlodel), carbidopalevodopa (Sinemet), amantadine hydrochloride (Symmetrel), trihexyphenidyl (Artane) and benztropine (Cogentin). The dopamine agonist and ergot alkaloid levodopa may improve symptoms in some patients; others may show temporary improvement with pergolide (Permax). The use of these drugs should be monitored carefully by a neurologist experienced in their use. Walking aids such as a walker weighted in front, and wearing shoes with built-up heels may help in preventing patients from falling backwards. Therapies: Investigational The National Institute of Neurological Disorders and Stroke (NINDS) is seeking certain individuals affected by Progressive Supranuclear Palsy for participation in a clinical research study. For complete information, those interested should have their physicians contact: Dr. Irene Litvan NINCDS Experimental Therapeutics Branch Bldg. 10, Room 5C106 Bethesda, MD 20892 (301) 496-7993 Idazoxan, a British drug developed as an antidepressant, is now being studied as a treatment for PSP. Dr. John H. Growdon of Harvard Medical School is investigating its benefits in treating PSP patients. The drug was not effective as an antidepressant and is no longer being manufactured in Britain. It has shown promising results in Dr. Growdon's study. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Progressive Supranuclear Palsy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Society for Progressive Supranuclear Palsy (SPSP) 2904-B Marnat Rd. Baltimore, MD 21209 (301) 484-8771 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 International Tremor Foundation 360 West Superior Street Chicago, IL 60610 (312) 664-2344 PSP Research Fund Dept. of Neurology UMDNJ-Robert Wood Johnson Medical School CN19 New Brunswick, NJ 08903 References PROGRESSIVE SUPRANUCLEAR PALSY: HL Klawans; United Parkinson Foundation, 1981. Progressive Supranuclear Palsym p pagetitle 287: Progressive Supranuclear Palsy 04140.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 767: Prostatitis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Prostatitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Prostate Infection Disorder Subdivisions: Acute Bacterial Prostatitis Chronic Bacterial Prostatitis Nonbacterial Prostatitis Prostatodynia Information on the following diseases can be found in the Related Disorders section of this report: Epidiymitis Acute Cystitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Prostatitis is a common infection of the prostate gland, the gland near the penis that is situated at the base of the male urethra. The prostate secretes an alkaline fluid which is the major ingredient of ejaculatory fluid. Prostatitis is classified into four subcategories: acute bacterial, chronic bacterial, nonbacterial and prostatodynia. Symptoms Acute Bacterial Prostatitis is characterized by chills, high fever, low back pain and pain in the joints or muscles. Affected individuals usually have problems with urination including frequency, urgency, difficulty and pain in urinating along with excessive urination at night. There may be a discharge from the urethra. The prostate gland is usually tender and swollen when examined by a physician's gloved finger in the rectum. Inflammation of the bladder (acute cystitis) usually accompanies Acute Prostatitis. Complications of untreated Acute Bacterial Prostatitis may include the formation of abscesses which may rupture into the urethra or rectum, kidney inflammation and infection of the long tightly coiled tube (epididymis) which carries sperm from the testicle to the ejaculatory duct. Infection of the testicle (orchitis) and shock may also occur. Chronic Bacterial Prostatitis is one of the most common causes of urinary tract infections in men. Affected individuals usually show no symptoms until the infection is advanced. As with Acute Bacterial Prostatitis, the majority of patients complain of frequency and urgency in urination, excessive urination at night and painful or burning urination. Most also experience low back pain. Secretions from the urethra, particularly at night, are common and the prostate gland is usually tender. Chronic Bacterial Prostatitis infections may involve the scrotum, producing intense discomfort, swelling and severe tenderness. There may be pain in the area of the prostate or rectum and decreased sexual desire with premature ejaculation. Nonbacterial Prostatitis is even more common than Bacterial Prostatitis and symptoms are usually indistinguishable from Chronic Bacterial Prostatitis. Most patients have no history of urinary tract infections. Prostatodynia refers to a condition characterized by painful and burning urination with no evidence of inflammation. Symptoms of Prostatodynia are also similar to, but more severe than, those of Chronic Bacterial Prostatitis. In rare cases, the pain may be incapacitating. Causes Bacterial Prostatitis is most commonly caused by the bacteria, Escherichia coli (E. coli), and more rarely by Enterococcus. Infection may be introduced through the urethra, usually by the flowing back of infected urine into the ducts of the prostate. It can also be caused by the invasion of rectal bacteria or by infection spread through the bloodstream from another area of the body. Whether or not bacterial prostatitis may be sexually transmitted is uncertain. The causes of Nonbacterial Prostatitis and Prostatodynis are unknown. Affected Population Prostatitis is a common disorder occuring in men most frequently over 50 years of age. Related Disorders Symptoms of the following disorders can be similar to those of Prostatitis. Comparisons may be useful for a differential diagnosis: Epididymitis is an infection of the long tightly coiled tube called the epididymis, which is located behind each testicle. The tube carries sperm from the testicle to the ejaculatory tract. Symptoms may include fever, chills and pain in the scrotum. Infected men may need to urinate frequently, and urination may be painful. (For more information on this disorder, choose "Epididymitis" as your search term in the Rare Disease Database). Acute Cystitis is an infection of the bladder. The most common cause of bladder infection in men is Chronic Bacterial Prostatitis. Symptoms may include burning or painful urination, excessive urination at night, urgency and frequency in urination and low back pain. Therapies: Standard Treatment of Bacterial Prostatitis is determined by the results of bacterial cultures and the overall condition of the individual. Treatment may require hospitalization with bed rest and the administration of analgesics and fluids with antibiotics such as ampicillin or amoxicillin. As prevention against the future development of Chronic Bacterial Prostatitis, trimethoprim-sulfamethoxazole may be administered for 30 days. Treatment of serious Acute Bacterial Prostatitis may require intravenous antibiotics until the acute phase of the infection has been overcome, followed by one month of oral antibiotic therapy. Less serious cases of Acute Bacterial Prostatitis usually respond to three to four weeks of treatment with oral antibiotics. Chronic Bacterial Prostatitis is more resistant to treatment which usually consists of trimethoprim-sulfamethoxazole or indanyl carbenicillin sodium for four weeks. Cultures are then repeated. A longer period of therapy may be required if cultures are still positive. If the infection persists after 12 weeks of therapy, a different medication may be tried. Some individuals do not respond completely to antibiotic treatment. In these cases, symptomatic infection may be treated as it occurs, or preventive measures taken to avoid recurrent episodes of cystitis which is the major source of symptoms. Antibiotics are of no value in treating Nonbacterial Prostatitis or Prostatodynia. Hot sitz baths and anticholinergic drugs may provide relief from symptoms. Some patients may find relief with periodic massage of the prostate. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney and Urologic Disease Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1547-1548. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1615-1616. PROSTATITIS. C. Stewart; EMERG MED CLIN NORTH AM (August, 1988: issue 6(3)). Pp. 391-402. CHRONIC BACTERIAL PROSTATITIS: 10 YEARS OF EXPERIENCE WITH LOCAL ANTIBIOTICS. L. Baert et al.; J UROL (October, 1988: issue 140(4)). Pp. 755- 757. MEASUREMENT OF URINARY ANTIBODIES TO CRUDE BACTERIAL ANTIGEN IN PATIENTS WITH CHRONIC BACTERIAL PROSTATITIS. L.M. Shortliffe et al.; J UROL (March, 1989: issue 141 (3)). Pp. 632-636. Prostatitis SE, _ b pagetitle 767: Prostatitis 04141.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 579: Proteus Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of this article (Proteus Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Partial Gigantism of Hands and Feet, Nevi, Hemihypertrophy, Macrocephaly Information on the following disorders can be found in the Related Disorders section of this report: Bannayan-Zonana Syndrome Cowden Syndrome (Multiple Hamartoma Syndrome) Klippel-Trenaunay Syndrome Maffucci Syndrome Neurofibromatosis Nevus Sebaceus of Jadassohn Ollier Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Proteus Syndrome is a very rare hereditary disorder characterized by multiple lesions of the lymph vessels (lipolymphohemangiomas), overgrowth of one side of the body (hemihypertrophy), an abnormally large head (macrocephaly), partial gigantism of the feet, and abnormal coffee-colored (cafe-au-lait) spots on the skin. Symptoms Proteus Syndrome is present at birth and is characterized by many fatty lesions of enlarged cystic lymph vessels, overgrowth of one side of the body, an excessively large head, overgrowth of hands or feet, and coffee-colored (cafe-au-lait) spots on the skin. Areas of the tongue can become enlarged with longer than normal elevations (papillae). Abnormal growths in the abdominal cavity may occur in some cases. Causes Proteus Syndrome is an autosomal dominant hereditary disorder. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.) Affected Population Proteus Syndrome is present at birth, and affects males and females in equal numbers. Related Disorders Symptoms of the following disorders may be similar to those of Proteus Syndrome. Comparisons can be useful for a differential diagnosis: Bannayan-Zonana Syndrome (Macrocephaly, Multiple Lipomas and Hemangiomas) is a hereditary disorder characterized by an enlarged head (macrocephaly), multiple fatty growths (lipomas) in the abdominal cavity and other areas, and abnormal growths (tumors) of the blood vessels (hemangiomas). Cowden Syndrome (Multiple Hamartoma Syndrome) is a hereditary disorder characterized by multiple nodules composed of an overgrowth of mature cells and tissues that occur in the affected part of the body. Often one kind of cell or tissue predominates (hamartomas). Klippel-Trenaunay Syndrome is thought to be a hereditary disorder combining a birth mark which is the color of a port wine stain (nevus flammeus), excessive growth of soft tissue and bone, and varicose veins. Cases may range from mild to severe. The disorder usually starts before birth or during early childhood. (For more information, choose "Klippel" as your search term in the Rare Disease Database.) Maffucci Syndrome (Multiple Angiomas and Endochondromas; Kast Syndrome; Hemangiomatosis Chondrodystrophica) is a rare inborn disorder characterized by multiple benign skin and bone lesions which, in some cases, may be progressive. The lesions appear at birth or shortly thereafter, but may not become evident for several years. (For more information, choose "Maffucci" as your search term in the Rare Disease Database.) Neurofibromatosis (Elephant Man Disease; Von Recklinghausen Disease; NF I and NF II) is a hereditary disorder with highly variable symptoms which can affect many body systems. Symptoms usually start during childhood. The disorder tends to become more active at puberty, during pregnancy, and at menopause. It is characterized by multiple nerve tumors under the skin which can result in disfigurement, cafe-au-lait spots on the skin, curvature of the spine and long bones, malformation of bones and other complications. (For more information, choose "Neurofibromatosis" as your search term in the Rare Disease Database.) Nevus Sebaceus of Jadassohn (Linear Sebaceous Nevus Syndrome) is a portwine-like spot on the scalp or less often the face, which often grows larger during puberty or early adult life. It may, in rare cases, give rise to a variety of new growths, including a skin cancer known as basal cell carcinoma. Ollier Disease (Multiple Cartilaginous Enchondroses) is a rare disorder characterized by abnormal development of the bones (skeletal dysplasia) usually beginning during childhood. The disorder affects bone and cartilage in joints of the arms and legs. Dwarfism may be present if both sides of the body are affected. (For more information, choose "Ollier" as your search term in the Rare Disease Database.) Therapies: Standard Some growths and bone malformations occurring in patients with Proteus Syndrome can be removed or corrected surgically. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Proteus Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References PROTEUS SYNDROME: THE ELEPHANT MAN DIAGNOSED: J.A.R. Tibbles, et al.; British Med Journal (1986: issue 293). Pp. 683-685. THE PROTEUS SYNDROME: PARTIAL GIGANTISM OF THE HANDS AND/OR FEET, NEVI, HEMIHYPERTROPHY, SUBCUTANEOUS TUMORS, MACROCEPHALY OR OTHER SKULL ANOMALIES AND VISCERAL AFFECTIONS: H.R. Wiedemann, et al.; Eur Journal Pediatr (1983: issue 140). Pp. 5-12. PROTEUS SYNDROME: REPORT OF TWO CASES WITH PELVIC LIPOMATOSIS: T Costa, et al.; Pediatrics (1985: issue 76). Pp. 984-989. PROTEUS SYNDROME OR ANOTHER HAMARTOSIS?: Boris G. Kousseff; Journal Clin Dysmorphol (1984: issue 2(3)). Pp. 23-26. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 638. Proteus Syndrome? pagetitle 579: Proteus Syndrome 04142.TXT !m!Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 478: Prune Belly Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Prune Belly Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Abdominal Muscle Deficiency Syndrome Congenital Absence of the Abdominal Muscles Eagle-Barrett Syndrome Obrinsky Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Prune Belly Syndrome is a rare condition characterized by underdevelopment of the abdominal muscles associated with intestinal and urogenital abnormalities. The condition is present at birth (congenital). In most cases the muscles are deficient, but not completely absent. Symptoms Prune Belly Syndrome is characterized by partial absence of some abdominal muscles. Often the attachments of the muscles to the bones are present, but the muscles diminish in size and thickness over the bladder. The abdomen appears large and lax, the abdominal wall is thin and the intestinal loops can be seen through the thin abdominal wall. Skin folds may radiate from the navel or occur as transverse folds across the abdomen. A midline crease from the navel to pubic area may be present in some cases. The navel may appear as a vertical slit, or as a linear central scar, but it can also appear normal. Sometimes the navel is connected with the bladder through a canal (urachus) or a cyst. The chest is often deformed. Flaring of the rib margins or a horizontal depression under the chest (Harrison groove) can appear in many children born with Prune Belly Syndrome. Narrowing of the chest in the transverse direction (pigeon breast) may also occur. Enlargement of the bladder is present in almost all cases. Obstruction of the neck of the bladder is the primary problem, resulting in bladder distention and urine retention. The connection between the kidney and bladder (ureter) may be abnormal; the opening between ureter and bladder may be narrowed or closed. Obstruction may also occur at the junction of the ureter and kidney. Usually, the ureters are greatly widened. Occasionally this enlargement occurs only on one side or decreases as the ureter nears the bladder. Distention of the kidney with urine (hydronephrosis), on one or both sides, may also occur. In some cases, hydronephrosis occurs on one side while the kidney is underdeveloped on the other side. Kidney cysts may also be present. The canal that carries urine from the bladder to the outside of the body (urethra) usually is unobstructed. In males, absence of an opening (atresia) in the urethra, folds acting as valves below the entrance of the semen and prostate ducts (verumontanum), compression by a pouch and overdevelopment of the prostatic urethra also have been noted in some cases. Blood and pus in the urine (hematuria and pyuria) often signal infection. Undescended testes (cryptorchidism) and testes that may be attached to a ureter, often occur in males with Prune Belly Syndrome. Abnormal fixation of the gastrointestinal tract and failure to rotate during fetal development (malrotation) have also been described in the medical literature. Causes The exact cause of Prune Belly Syndrome is unknown. There are several theories. It may be caused by an abnormality in the bladder during fetal development. Accumulation of urine can distend the bladder, the ureters, and the kidney. As the bladder enlarges, it causes wasting (atrophy) of the abdominal muscles. Retention of the testes in the abdomen (cryptorchidism) may be attributed to obstruction by an unusually large bladder or to obliteration of the groin (inguinal) canals. By the time of birth, the obstruction at the bladder outlet or the urethral obstruction may have been resolved, so that no mechanical obstacle can be identified after birth. Other researchers consider the urinary abnormalities as secondary to the incomplete development of abdominal muscles. Incomplete emptying of the bladder leading to urinary retention and infection can occur as a result. Constipation and symptoms of indigestion are additional possible complications. Since the abdominal muscles are important for respiration, deformity of the chest could be explained by their absence. A third possibility is that the muscle deficiency and the urinary abnormalities have a common cause that has not yet been discovered. A nervous system defect that could be responsible for early malfunction of abdominal muscles may be the cause. Association with a congenital open spinal canal (spina bifida) has been identified in some children, and the presence of clubfeet is also fairly commonly associated with Prune Belly Syndrome. Affected Population Prune Belly Syndrome is a very rare disorder that is present at birth. The disorder affects mostly males but a few female cases have been described in the medical literature. Therapies: Standard Bladder reconstruction (cystoplasty), surgical widening of the urethra, and augmentation of the muscles that contract the bladder (detrusor augmentation) using a paired graft of a hip muscle (rectus femoris) have been successfully performed on children with Prune Belly Syndrome. Kidney transplantation may be necessary. Therapies: Investigational An experimental surgical procedure that includes abdominal wall reconstruction, surgical fixation in the scrotum of the undescended testes (orchiopexy) and/or urinary tract reconstruction simultaneously, has been devised by Dr. Richard Ehrlich at the University of California in Los Angeles. This procedure removes the bulges of the abdomen. Thus it provides an excellent cosmetic result that promotes a positive body image in children with Prune Belly Syndrome. More research is necessary, before this procedure can be recommended for all children with Prune Belly Syndrome. For more information contact: Richard M. Ehrlich, M.D. 100 UCLA Medical Plaza, Suite 690 Los Angeles, CA 90024 (213) 825-6865 or (213) 825-6754 This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Prune Belly Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Prune Belly Syndrome Network 1005 East Carver Road Tempe, AZ 85284 (602) 838-9006 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Richard M. Ehrlich, M.D. Department of Surgery/Urology University of California, Los Angeles Medical Center 10833 LeConte Ave. 66-115 CHS Los Angeles, CA 90024 (213) 825-6865 or (213) 825-6754 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References TOTAL ABDOMINAL WALL RECONSTRUCTION IN THE PRUNE BELLY SYNDROME: R.M. Ehrlich, et al.; Journal Urol (July 1986: issue 136(1 Pt 2)). Pp. 282-285. CONGENITAL MALFORMATIONS, NOTES AND COMMENTS: Josef Warkany; Year Book Medical Publishers, 1971. Pp. 1025-1029. TESTICULAR AND SEXUAL FUNCTION IN ADULTS WITH PRUNE BELLY SYNDROME: C.R. Woodhouse, et al.; Journal Urol (April 1985: issue 133(4)). Pp. 607-609. UMBILICUS PRESERVATION WITH TOTAL ABDOMINAL WALL RECONSTRUCTION IN THE PRUNE BELLY SYNDROME, Erlich, Richard M., et al., Society for Pediatric Urology Newsletter, (May 14, 1991), Pp. 27-31.... Prune Belly Syndrome "pagetitle 478: Prune Belly Syndrome 04143.TXT Copyright (C) 1986, 1988, 1990 National Organization for Rare Disorders, Inc. 303: Pseudo-Hurler Polydystrophy _________________________ ** IMPORTANT ** It is possible the main title of the article (Pseudo-Hurler Polydystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Pseudo-Polydystrophy Pseudopolydystrophy Mucolipidosis III ML III ML Disorder Gangliosidosis GM1 Type 1 GLB1 Mucopolysaccharidosis VII Information on the following diseases can be found in the Related Disorders section of this report: Sandhoff Disease (Gangliosidosis GM2 Type 2) Tay Sachs Disease (GM2 Type 1) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. The Mucolipidoses are a family of hereditary disorders in which enzyme deficiencies cause both complex carbohydrates (mucopolysaccharides) and certain fatty substances (mucolipids) to accumulate in body tissues without excess mucopolysaccharides in the urine. (For more information on the mucolipidoses, choose "ML Disorder" as your search term in the Rare Disease Database.) Pseudo-Hurler Polydystrophy (Mucolipidosis III) is an autosomal recessive inherited disorder, characterized by childhood onset, painless joint stiffness, decreased mobility, short stature, some coarseness of the facial features, mild mental retardation, evidence of multiple defective bone formations (dysostosis multiplex), and aortic valve disease. Pseudo-Hurler polydystrophy is, in general, a milder form of I-cell disease (ML II). (For more information, choose "I-cell" as your search term in the Rare Disease Database.) Symptoms Pseudo-Hurler Polydystrophy is caused by excess accumulations of ganglioside in cells called histiocytes. The gangliosides affect the central nervous system, liver, spleen, and kidneys (renal glomerular epithelium), bone, and other tissues. This type of mucolipidosis is characterized by childhood onset of joint stiffness without pain, swelling or tenderness. Limitation of mobility is slowly progressive but seems to become stationary after puberty. Stature is short. Other characteristics are minimal to moderate coarseness of the facial features, and opacities of the eye's cornea. Mild mental retardation may also occur. Blood flowing back from the aorta into the heart (aortic regurgitation) has been observed in several cases. The urinary excretion of acid mucopolysaccharides is normal. Easy fatigability and congestive heart failure may sometimes occur. Compression of the "tunnel" in the wrist through which nerves and tendons pass (the carpal tunnel) may be present by late childhood. Disease of the valves of the aorta is common. Survival to age 50 years is known but there is little information available on the course of the disorder during adulthood. Mucolipodosis III (Pseudo-Hurler Polydystrophy) has a similar clinical involvement compared to Mucopolysaccharidosis VI. Causes Pseudo-Hurler Polydystrophy is an autosomal recessive inherited disorder in which multiple lysosomal enzymes are deficient. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Pseudo-Hurler Polydystrophy affects males as often as females. Siblings of patients with this disorder have a 1 in 4 chance of being affected. Related Disorders Sandhoff Disease Sandhoff Disease (Gangliosidosis GM2 Type 2) is an inherited disorder. A severe variant of Tay Sachs Disease, it is not restricted to people of Eastern Jewish heritage. (For more information on this disorder, choose "Sandhoff" as your search term in the Rare Disease Database. Tay Sachs Disease (Amaurotic Familial Idiocy; Gangliosidosis GM2 Type I) is a hereditary disorder in children. It is characterized by progressive destruction of the central nervous system. It is generally found among children with Eastern European Jewish heritage. Symptoms become apparent at about six months of age. (For more information on this disorder, choose "Tay Sach" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Pseudo-Hurler Polydystrophy is symptomatic and supportive. Orthopedic care may be provided when needed. Genetic counseling services will be useful to patient and family. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pseudo-Hurler Polydystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 MPS (Mucopolysaccharidoses) Research Funding Center, Inc. 1215 Maxfield Road Hartland, MI 48029 (313) 363-4412 The MPS Society, Inc. 17 Kramer Street Hicksville, NY 11801 (516) 931-6338 Society of Mucopolysaccharide Diseases, Inc. 382 Parkway Blvd. Flin Flon, Manitoba, Canada R8A OK4 Society of MPS Diseases 30 Westwood Drive Little Chalfont, Bucks, England National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References BIRTH DEFECTS COMPENDIUM, 2nd ed.: Daniel Bergsma, ed; March of Dimes, 1979. P. 726. MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A. McKusick; Johns Hopkins University Press, 1983. Pp. 835-836. Pseudo-Hurler Polydystrophy pect/ pagetitle 303: Pseudo-Hurler Polydystrophy 04144.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 830: Pseudocholinesterase Deficiency _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pseudocholinesterase Deficiency) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Succinylcholine Sensitivity Information on the following disorders can be found in the Related Disorders section of this report: Apnea Malignant Hyperthermia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pseudocholinesterase Deficiency is a rare genetic disorder. Individuals with this disorder have a deficiency or absence of the plasma enzyme pseudocholinesterase, which can cause respiratory difficulty during surgery if the muscle-relaxing drug succinylcholine is used. Symptoms Individuals with Pseudocholinesterase Deficiency have a shortage or absence of the enzyme pseudocholinesterase. The only apparent effect of this deficiency appears when the drug succinylcholine is given during surgery. Succinylcholine (also called suxamethonium, or anectine) is a muscle-relaxing drug generally used intravenously during surgery. The patient's body has difficulty stopping the activity of this drug due to his/her deficiency of pseudocholinesterase. This can cause paralysis of respiratory muscles which may cause the patient to stop breathing for an extended period of time. Artificial respiration (mechanical ventilation) may be necessary until the succinylcholine is eliminated from the body and the patient is able to resume breathing. If the patient is not exposed to succinylcholine, he/she may never know that he/she has a deficiency of the enzyme pseudocholinesterase. Causes Pseudocholinesterase Deficiency is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Pseudocholinesterase Deficiency is present at birth and occurs in approximately 1 out of every 2500 people in the United States. It seems to affect white Americans, Alaskan Eskimos, Greeks, Yugoslavs, and East Indians more often than other populations. In white Americans it seems to affect males almost twice as often as females. Related Disorders Apnea is the temporary cessation of breathing during sleep. Infantile Apnea refers to pauses in breathing during an infant's sleep. Apnea is called Central Apnea or Diaphragmatic Apnea when there are no chest movements during the pauses in breathing. When there are chest movements but no passage of air through the mouth or nostrils, the disorder is known as Obstructive Apnea or Upper Airway Apnea. Central Apnea followed by or intermixed with an Obstructive Apnea is called Mixed Apnea. (For more information choose "apnea" as your search term in the Rare Disease Database). Malignant Hyperthermia is a rare disorder caused by a genetically determined abnormal response to certain anesthetic drugs. Manifestations include the sudden development of exceptionally high fever during or following general anesthesia. The symptoms do not occur in the absence of general anesthesia. Although the patient may have had no previous adverse reactions to general anesthesia in the past, the subsequent administration of an anesthetic drug such as halothane or cyclopropane - either with or without the administration of a muscle relaxant such as succinylcholine, may trigger the onset of Malignant Hyperthermia in a genetically susceptible individual. It is a serious condition which requires prompt recognition and expert medical treatment. Occasionally, those afflicted with the disorder have revealed a past history of weakness or muscle cramps, or a history of relatives who had a negative reaction to anesthesia. Therapies: Standard Testing can be done to determine the presence of Pseudocholinesterase Deficiency before surgery is performed. When the enzyme deficiency is identified the muscle-relaxing drug succinylcholine is not prescribed and other muscle relaxants can be used instead. If testing for Pseudocholinesterase Deficiency has not been done beforehand, and the patient stops breathing for a prolonged period of time during surgery, artificial respiration (mechanical ventilation) can be administered until the patient is able to resume normal breathing. People with Pseudocholinesterase Deficiency should warn their relatives to be tested before surgery since this is a genetic disorder. People who have relatives who have died for unknown reasons during surgery should be screened for Pseudocholinesterase Deficiency prior to undergoing surgery. Therapies: Investigational This disease entry is based upon medical information available through January 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pseudocholinesterase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Institute of General Medical Sciences (NIGMS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-7301 Malignant Hyperthermia Association of the United States P.O. Box 3231 Darien, CT 06820 (203) 655-3007 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 814-815. THE MERCK MANUAL, Volume 1, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp, and Dohme Laboratories, 1987. Pp. 2454. AN ALTERNATIVE APPROACH TO THE PREVENTION OF SUCCINYLDICHOLINE-INDUCED APNOEA. M. Panteghini, et al.; J Clin Chem Biochem (Feb 1988; issue 26 (2)). Pp. 85-90. PLASMA CHOLINESTERASE GENETIC VARIANTS PHENOTYPED USING A COBAS-FARA CENTRIFUGAL ANALYSER. A. Brock; J Clin Chem Biochem (Dec 1988; issue 26 (12)). Pp. 873-875. TRANSIENT RESPIRATORY DEPRESSION OF THE NEWBORN. ITS OCCURRENCE AFTER SUCCINYLCHOLINE ADMINISTRATION TO THE MOTHER. D. Hoefnagel, et al.; Am J Dis Child (Aug 1979; issue 133 (8)). Pp. 825-826. PROLONGED APNEA OF AN ORAL SURGERY PATIENT AFTER ADMINISTRATION OF SUCCINYLCHOLINE. T. Gerosky, et al.; J Oral Surg (Jun 1979; issue 37 (6)). Pp. 428-431. Shoemaker, et al.; Textbook of Critical Care, 2nd Ed.; W.B. Saunders, 1989. Pp. 109-114. AMA Drug Evaluation, 6th Ed., 1986. P. 321.... Pseudocholinesterase Deficiency pagetitle 830: Pseudocholinesterase Deficiency 04145.TXT Copyright (C) 1986, 1988, 1989 National Organization for Rare Disorders, Inc. 257: Pseudogout _________________________ ** IMPORTANT ** It is possible the main title of the article (Pseudogout) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Calcium Pyrophosphate Dihydrate Crystal Deposition disease CPPD disease Articular Chondrocalcinosis Calcium Gout Crystal induced Synovitis DISORDER SUBDIVISIONS Chronic Pseudogout Acute Pseudogout General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pseudogout is a disorder resembling gout, characterized by deposits of calcium pyrophosphate dihydrate crystals in a single joint or multiple joints which causes mild chronic inflammation of those joints. Symptoms Pseudogout can appear in a chronic or acute form, or a combination of these two types. About one-fourth of patients with Pseudogout experience one or more acute (sudden) attacks characterized by rapid swelling and pain in a joint, stiffness and occasional redness and heat over the affected area. An attack usually reaches its peak within 12 to 36 hours and can last several days to weeks. In most people the symptoms of acute attacks will disappear eventually even without treatment. The most commonly affected joint is the knee, although any joint may be affected. The milder non-acute forms of the disorder are more likely to occur in several joints such as the wrists and fingers, as well as the knee. Pain and swelling occur, not as severe as in a sudden attack, but they tend to last longer. People with chronic Pseudogout find that pain becomes worse with activity. Some experience acute attacks as well as the chronic form, while others with the chronic form may never experience an acute attack. Causes The cause of Pseudogout is unknown. Its frequent association with other conditions such as osteoarthritis, diabetes mellitus, hyperparathyroidism, gout or hemochromatosis suggests that the deposits of the CPPD crystals in the cartilage are secondary to degenerative changes in the joints. A familial pattern of incidence has been observed in several countries. Affected Population Pseudogout appears in mature adults. Both sexes are affected equally. The incidence of asymptomatic calcinosis of cartilage in joints in persons over age 50 is appreciable. Related Disorders Gout is a recurrent acute arthritis of peripheral joints which results from deposition, in and about the joints and tendons, of monosodium urate crystals from supersaturated hyperuricemic body fluids. This disorder may become chronic and deforming, but in most cases it is responsive to drugs and diet therapy. Therapies: Standard Acute attacks of Pseudogout are treated by removing the excess fluid and CPPD crystals from the affected joint. The drugs used most often for treatment of Pseudogout are aspirin and the other non-steroidal anti-inflammatory drugs such as those commonly prescribed for many types of arthritis. These drugs reduce the pain and swelling caused by inflammation. Stomach upset is a common side effect of these drugs which may be avoided if they are taken with milk or food. If an acute attack has occurred in only one joint, a corticosteroid may be injected into the joint. During an attack of Pseudogout the affected joint may need rest. Splints, canes and other devices for protecting joints may be fitted. Once the episode subsides, or in cases of the milder chronic form, rest should be balanced with appropriate exercise prescribed by a doctor or a physical therapist. In a very few people with Pseudogout, surgery may be necessary to correct a joint that is badly damaged, very painful or unstable. Surgery can be performed either to repair a joint or to replace it entirely with an artificial joint. Surgery can be effective for reducing pain, improving movement and correcting disability. Therapies: Investigational Researchers at the Mayo Clinic in Rochester, MN have tested the experimental anti-inflammatory drug colchicine as a treatment in severe cases of Pseudogout when symptoms did not respond to any other treatment. More research is needed before this drug can be recommended for treatment of Pseudogout. This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pseudogout, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Arthritis Foundation 1314 Spring Street, N.W. Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References Pseudogout. Schumacher: Arthritis Medical Information Series (1983). THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1266. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2037. Pseudogout pagetitle 257: Pseudogout 04146.TXT Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc. 625: Pseudohypoparathyroidism _________________________ ** IMPORTANT ** It is possible that the main title of this article (Pseudohypoparathyroidism) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Martin-Albright Syndrome Seabright-Bantam Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Turner Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Pseudohypoparathyroidism is a hereditary disorder characterized by an inadequate response to the parathyroid hormone, although this hormone is present in normal amounts. This inadequate response affects bone growth in patients with Pseudohypoparathyroidism. Headaches, weakness, easy fatigue, lack of energy, and blurred vision or hypersensitivity to light may also occur. Unusual sensations, stiffness or cramps in arms or legs, palpitations and abdominal pain may be noticed. A round face, thick short stature and short fourth fingers are also found in patients with this disorder. Mental retardation also occurs. The prognosis is good for most patients. Hormonal and calcium replacement therapy is often useful, but the lack of growth may persist. Symptoms Pseudohypoparathyroidism is characterized by short stature, a round face, short neck, and shortened bones in the hands and feet. Intelligence usually ranges from low normal to mentally retarded. Headaches, weakness, tiring easily, lethargy, cataracts and blurred vision or hypersensitivity to light may also be present. During childhood, seizures may occur. Teeth with underdeveloped enamel tend to erupt later than normal during infancy. Levels of calcium in the blood are usually low, while phosphate and the parathyroid hormone are elevated. Patients with Pseudohypoparathyroidism can lead a normal life. Causes Pseudohypoparathyroidism is a hereditary disorder inherited either through X-linked dominant genes or through autosomal dominant genes. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. In X-linked dominant disorders the female with only one x chromosome affected will develop the disease. However, the affected male always has a more severe condition. Sometimes affected males die before birth so that only female patients survive. In autosomal dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. Related Disorders Symptoms of the following disorders can be similar to those of Pseudohypoparathyroidism. Comparisons may be useful for a differential diagnosis: Turner Syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possible mental retardation, a webbed neck, heart defects, and various other congenital abnormalities, often including the same deformities of the hands as in Pseudohypoparathyroidism. Individuals have an XO karyotype, i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males. However, they are females. (For more information, choose "Turner" as your search term in the Rare Disease Database.) Therapies: Standard Pseudohypoparathyroidism is treated with the vitamin compound 1,25-dihydroxyvitamin D which promotes reabsorption of calcium in the kidneys. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pseudohypoparathyroidism, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 PHP Self-Help Clearinghouse 104 Northern Parkway West Plainview, NY 11803 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References EFFECTS OF ENDOGENOUS AND EXOGENOUS PARATHYROID HORMONE ON TUBULAR REABSORPTION OF CALCIUM IN PSEUDOHYPOPARATHYROIDISM: M. Yamamoto, et al. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds; McGraw Hill, 1983. Pp. 2089-1091, 2109-2110. RENAL-NONRESPONSIVE, BONE-RESPONSIVE PSEUDOHYPOPARATHYROIDISM: S. Dabbagh, et al.; Am Journal Dis Child (November 1984: issue 138(11)). Pp. 1030-1033. PseudohypoparathyroidismG pagetitle 625: Pseudohypoparathyroidism 04147.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 843: Pseudomyxoma Peritonei _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pseudomyxoma Peritonei) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Malignant Appendiceal Tumor Malignant Large Cystadenocarcinoma Malignant Large Peritoneal Carcinomatosis Malignant Large Bowel Tumor Information on the following diseases can be found in the Related Disorders section of this report: Appendicitis Carcinoid Syndrome Adenocarcinoma of the Appendix General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pseudomyxoma Peritonei is a rare malignant growth lining the abdominal cavity. It usually develops from a cancer located in the appendix, goblet cells of the large bowel, or ovary. It may fill up the abdominal area causing swelling of the abdomen and generalized pain in the lower abdomen. It often takes years to develop. Symptoms Pseudomyxoma Peritonei is usually characterized by pain in the lower abdomen which can suggest an appendicitis attack. Upon examination the abdomen is found to be swollen but not painful to the touch. Surgery to remove the appendix reveals the abdominal cavity to be filled with tumors of mucus origin (mucinous) and mucinous swelling of the abdomen (ascites). In many cases the abdomen is completely filled with these mucinous tumors. However, the small bowel is usually spared allowing for removal of much of the tumorous growth. Serious consequences of the disorder may be loss of intestinal function and intestinal obstruction. Causes Pseudomyxoma Peritonei is generally thought to develop very slowly from the spread of appendix, large bowel or ovarian cancer to the abdominal area, as the spreading of a mucinous intra-abdominal tumor progresses, it begins to fill up the abdomen with an "Omental cake" resulting in a condition known as "jelly-belly". Affected Population Pseudomyxoma Peritonei is a very rare disease. Only about 450 cases are mentioned in the medical literature. It affects people in a ration of one man to every four women. It is more common in women because it often develops from an ovarian tumor. It primarily occurs in older persons, the mean age being 57 years of age. Related Disorders Symptoms of the following disorders can be similar to those of Pseudomyxoma Peritonei. Comparisons may be useful for a differential diagnosis: Appendicitis is a common inflammation of the appendix, a small organ located near the first part of the large intestine. The inflammation results from a bacterial infection that causes the appendix to swell and fill with pus. Symptoms include intermittent pain in the navel region. In time the pain becomes more severe and localized in the lower, right quadrant of the abdomen. The lower abdomen becomes tender and touching increases the pain dramatically. Carcinoid Syndrome is a rare, malignant disease of slow growing tumors affecting the small bowel, stomach and/or pancreas. The syndrome may be accompanied by stomach pain, blockage of arteries and hot flushes. (For more information on this disorder, choose "Carcinoid Syndrome" as your search term in the Rare Disease Database). Adenocarcinoma of the Appendix is the most common form of malignancy found in the appendix. It is often difficult to distinguish Adenocarcinoma of the Appendix from non-cancerous mucoceles. Both types may cause appendicitis. Therapies: Standard The use of CAT and Ultrasound scans can often identify Pseudomyxoma Peritonei before surgery. Imaging can show if mucinous cells have produced large amounts of mucus in the abdominal cavity. Surgery along with intraperitoneal chemotherapy can often increase disease free life expectancy if the cancer has not spread from another location. Drugs used in treating Pseudomyxoma Peritonei include Mitomycin C and 5-Flourouracil. Therapies: Investigational Studies are ongoing in surgical and medicinal ways of treating all forms of cancer including Pseudomyxoma Peritonei. For more information on this research contact: Dr. Paul H. Sugarbaker The Cancer Institute Washington Hospital Center 110 Irving Street, NW Washington, DC 20010-1975 Resources For more information on Pseudomyxoma Peritonei, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute (NCI) 9000 Rockville Pike, Bldg. 31, Rm 1A2A Bethesda, MD 20892 (800) 4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, 1-808-524-1234 (Neighbor islands call collect) References CURRENT THERAPY IN COLON AND RECTAL SURGERY, "Cancer of the Appendix and Pseudomyxoma" Paul H. Sugarbaker, B.C. Decker, 1990. MALIGNANT PSEUDOMYXOMA PERITONEI OF COLONIC ORIGIN. NATURAL HISTORY AND PRESENTATION OF A CURATIVE APPROACH TO TREATMENT., PH Sugarbaker, et al.; Dis Colon Rectum, (October, 1987, issue 30 (10)). Pp. 772-779. PSEUDOMYXOMA PERITONEI PRESENTING AS A SCROTAL MASS., WC Baker, et al.; J Urol (April, 1988, ISSUE 139 (4)). Pp. 821-822. A 25-YEAR REVIEW OF ADENOCARCINOMA OF THE APPENDIX. A FREQUENTLY PERFORATING CARCINOMA., MA Cerame, Dis Colon Rectum, (February, 1988, issue 31 (2)). Pp. 145-150. Pseudomyxoma PeritoneiE pagetitle 843: Pseudomyxoma Peritonei 04148.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 640: Pseudotumor Cerebri _________________________ ** IMPORTANT ** It is possible that the main title of the article Pseudotumor Cerebri is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Benign Intracranial Hypertension Information on the following diseases can be found in the Related Disorders section of this report: Arachnoiditis Epiduritis Meningitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pseudotumor cerebri is a syndrome of increased pressure inside the skull (intracranial). It is most often seen in obese females between the ages of 20 and 50. Symptoms can mimic those of a brain tumor. However, no tumor is involved. Symptoms Symptoms of Pseudotumor cerebri include headache of varying degrees of severity (often mild), and usually unrelieved by medication. A swelling of the optic disc (papilledema) with progressive visual loss occurs in a small percentage of the patients. Occasionally, there is a loss of strength and energy (asthenia) and memory disturbances that may interfere with daily life. A lumbar puncture (spinal tap) may show spinal fluid pressure to be elevated, but the fluid content is normal or possibly will contain a small amount of protein. Tests of electrically activity in the brain (EEG) usually are normal. Causes There is no known cause for the majority of the cases of Pseudotumor cerebri. However, some cases may be caused by pregnancy, steroid drugs and sex hormone use. A parathyroid or adrenal gland disorder, venous sinus thrombosis (clot in the channel of the brain for venous blood) or excessive use of Vitamin A are other possible causes. Use of the antibiotic, tetracycline or Nalidixic acid (NegGram) for urinary tract infections may also cause symptoms of this disorder. Pseudotumor cerebri may also be caused by an increased intracranial pressure secondary to chronic carbon dioxide retention and a lack of oxygen (hypoxia). Other cases may result from iron deficiency anemia or a abnormal function of the parathyroid glands. Affected Population Pseudotumor cerebri is most often seen in overweight females between the ages of 20 to 50, but it also occurs less frequently in men of similar ages. Black men appear to be at a greater risk for loss of vision. The general population appears to be affected 0.9 per 100,000 persons. However, when obesity was considered, this incidence increased to 13-15 per 100,000 persons who are 10% overweight, and to 19.3 per 100,000 when they were 20% or more over their ideal weight. The female to male ratio is 8:1, and the average weight is 38% over ideal weight. Related Disorders Symptoms of the following disorders can be similar to those of Pseudotumor cerebri. Comparisons may be useful for a differential diagnosis: Arachnoiditis is a progressive inflammatory disorder affecting the middle membrane surrounding the spinal cord and brain (arachnoid membrane). It may affect both the brain and the spinal cord and may be caused by foreign solutions (such as dye) being injected into the spine or arachnoid membrane. Symptoms may include severe headaches, vision disturbances, dizziness, nausea and/or vomiting. If the spine is involved, pain, unusual sensations, weakness and paralysis can develop. (For more information on this disorder, choose "Arachnoiditis" as your search term in the Rare Disease Database). Epiduritis is characterized by inflammation of the outer tough canvas-like covering surrounding the brain and spinal cord known as the dura mater. Symptoms of this disorder can be similar to pseudotumor cerebri. Meningitis is an inflammation of the membranes around the brain and the spinal cord. It may occur as three different forms; adult, infantile and neonatal. It may also be caused by a number of different agents such as infectious bacteria, virus, or fungi, and malignant tumors. Meningitis may develop suddenly or have a gradual onset. Symptoms may include fever, headache, a stiff neck, and vomiting. The patient may also be irritable, confused and go from drowsiness, to stupor to coma. (For more information on this disorder, choose "Meningitis" as your search term in the Rare Disease Database). Brain tumors may also cause symptoms similar to Pseudotumor cerebri. The term "pseudo" means that the disorder mimics a brain tumor, but is not caused by a tumor. Therapies: Standard Treatment of Pseudotumor cerebri varies according to the cause. Symptoms are treated and relieved, but in a small percentage of the patients it may reoccur. Repeated lumbar punctures at daily intervals may lower pressure, and may relieve some of the symptoms. Occasionally a lumbar-peritoneal shunt (tube to drain the excess fluid) may be required to facilitate drainage from the brain (cranial) area into the abdomen. Other treatment may consist of use of diuretics and discontinuation of medications that may have caused the symptoms to develop. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cerebri Pseudotumor, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2222. OPTIC NERVE HEAD DRUSEN AND PSEUDOTUMOR CEREBRI. B. Katz, et. al; Arch. Neurol. (January, 1988, issue 45(1)). Pp. 45-7. THE INCIDENCE OF PSEUDOTUMOR CEREBRI. POPULATION STUDIES IN IOWA AND LOUISIANNA. F.J. Durcan, et. al; Arch. Neurol. (August, 1988, issue 45(1)). Pp. 875-7. CLINICAL COURSE AND PROGNOSIS OF PSEUDOTUMOR CEREBRI. A PROSPECTIVE STUDY OF 24 PATIENTS. P.S. Sorenson, et. al.; Acta Neurol. Scand. (February, 1988, issue 77 (2)). Pp. 164-72. PSEUDOTUMOR CEREBRI IN MEN. K.B. Digre, et. al.; Arch. Neurol. (August, 1988, issue 45(8)). Pp. 866-72. Pseudotumor Cerebri ound' pagetitle 640: Pseudotumor Cerebri 04149.TXT Copyright (C) 1986, 1988, 1990, 1991 National Organization for Rare Disorders, Inc. 253: Pseudoxanthoma Elasticum _________________________ ** IMPORTANT ** It is possible the main title of the article (Pseudoxanthoma Elasticum) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PXE Groenblad-Strandberg syndrome Elastosis Dystrophica syndrome Systemic Elastorrhexis of Touraine General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pseudoxanthoma Elasticum designates a group of inherited connective tissue disorders involving the skin, the eyes and the cardiovascular system. Symptoms Pseudoxanthoma Elasticum, also know as PXE, is first characterized by the appearance of small yellow elevated spots (wheals) in the folds of the skin. The skin of the neck, under the armpits (axilles), the groin, and the areas around the navel (periumbilical) becomes thickened, grooved, inelastic, and loose. Brownish streaks appear in the retina. Retinal hemorrhage and severe vision loss may occur. Weak or absent pulses and easy fatigability of the extremities may cause intermittent limping. Arterial calcification may be apparent on X-rays at an early age, even though other symptoms may appear years later. Arteries of the arm show radial and ulnar artery closing (occlusion), with dilated arteries between the bones (interosseous) supplying blood to the hands. Angina pectoris and hypertension are common. Hemorrhage may occur in the uterus, the genito-urinary tract, the nose and under the membrane around the brain (the subarachnoid). The clinical course of PXE varies with the severity of the disorder in each patient, and location of the involvement of blood vessels. It is progressive, but in many cases it may progress very slowly. Causes PXE is an hereditary autosomal recessive or autosomal dominant disorder. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Connective tissue fibers of the skin, the intermediate size and small arteries, and occasionally the membranes around the heart stain readily with basic dyes (are basophilic) and contain calcium deposits. These abnormal connective tissue fibers cause the inelastic, excessive looseness of the skin. Affected Population Pseudoxanthoma Elasticum affects approximately 1 in 100,000 persons worldwide. It is estimated that there may be 2,500 cases in the United States. Therapies: Standard Many treatments for PXE are possible to prevent or improve the natural course of this disorder. These include trauma of head activities in sports activities which may cause bleeding from the eye's retina. Laser coagulation and other treatment methods can be used to stop this bleeding. Antibiotics are prescribed to prevent infection of heart valves. A regular exercise and weight control program can be helpful. Aspirin and excessive calcium in the diet should be avoided. Smoking should be avoided as well. Cosmetic surgery may be required to treat the skin changes. Genetic counseling including an explanation of the natural course of PXE to families of patients is recommended. Therapies: Investigational This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pseudoxanthoma Elasticum, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Association for PXE (NAPE) 1884 Cherry St. Denver, CO 80220-1146 (518) 426-0451 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Clinics: Mark Lebwohl, M.D. PXE Research Project, Department of Dermatology Mount Sinai School of Medicine Fifth Avenue & 100th Street New York, NY 10029 (212) 876-7199 Kenneth H. Nelder, M.D. PXE Research Program Department of Dermatology Health Sciences Center Texas Tech University Health Sciences Center Lubbock, TX 79430 (806) 743-2456 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 2099. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1181-2. Pseudoxanthoma Elasticum' pagetitle 253: Pseudoxanthoma Elasticum 04150.TXT 'Copyright (C) 1991 National Organization for Rare Disorders, Inc. 836: Psittacosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Psittacosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Ornithosis Parrot Fever Information on the following diseases can be found in the Related Disorders section of this report: Legionnaire's Disease Pneumonia Q Fever Brucellosis Hepatitis Meningitis Mononucleosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Psittacosis is a common infectious disorder found in birds, some poultry and mammals including man. However, it rarely occurs in humans but when it does it can spread and become epidemic. In humans it can have very serious and complicated effects. The most prominent symptom is usually pneumonia with associated breathing problems. Other major symptoms may include chills, fever, headache, nausea, vomiting, and muscle pain in the neck and back. These symptoms can mimic many other diseases. A definite diagnosis is necessary for appropriate treatment to begin. Symptoms Symptoms of Psittacosis are usually those of pneumonia, shortness of breath, tiredness and pain when breathing. However, the illness can have symptoms that are indicative of other diseases making it difficult to diagnose. For example, the symptoms may mimic influenza or mononucleosis, or the symptoms may be more severe indicating serious lung problems. The patient may cough and spit up bloody mucus, have difficulty breathing or experience pain when breathing. There may be severe headache or vomiting, loss of interest in eating, severe muscle pain, chills and fever. In some serious cases there may be heart involvement with irregular or uncomfortable heart beat and inflammation of the sack surrounding the heart (pericarditis). An enlarged spleen or liver may also occur. Diagnosis is made by a rise in antibodies in serum and by x-rays that show a ground-glass like shadow most often in the right inferior lobe of the lung. Disorder Subdivision: The bacterium, Chlamydia psittaci, that causes Psittacosis in birds and fowls also causes abortions in cows and sheep. This bacterium is known to affect birds and mammals, including man, causing serious illness and abortion in pregnant cows and ewes. Causes Psittacosis is caused in humans by exposure to the bacterium Chlamydia psittaci which is transmitted from infected birds and poultry. Most instances of infection occur from handling infected birds themselves or by working in areas where birds are kept or butchered. Poultry and pet store workers are at a very high risk as are breeders of parrots, parakeets, love-birds etc. Poultry workers handling the insides (viscera) of butchered turkeys also run a high risk of contracting the disease from blood and tissue. Another source of infection is the dried feces of birds and poultry and the dust from feathers and cages. Protective gloves and masks can often prevent transmission of the disease to these workers. The birds themselves often do not appear to be ill even though the disease is often fatal. Pet owners need to be made aware that even though birds are asymptomatic they can still carry the disease and spread the bacterium for months. Not only pet birds but domestic fowls, feral birds, city pigeons and sparrows are known carriers of Psittacosis. Affected Population Psittacosis affects males and females in equal numbers. Bird breeders, pet store workers, pigeon keepers and poultry workers are the most frequently infected. However, anyone who owns a pet bird should be aware of the possibility that the bird may carry the bacterium. Since the disease can become epidemic in animals as well as in humans, discovery of a single case of the disease should be reported to local public health authorities. Related Disorders Symptoms of the following disorders can be similar to those of Psittacosis. Comparisons may be useful for a differential diagnosis: Legionnaire's Disease resembles pneumonia including a shaking chill, sharp pain in the involved side of the chest, cough with sputum or phlegm production, fever of up to 105 degrees F, and in some cases, rapid and painful respiration. Abdominal pain, diarrhea, neurological signs such as headache, confusion, lethargy or agitation may also be present. (For more information on this disorder, choose "Legionnaire" as your search term in the Rare Disease Database). Pneumonia may vary from mild to severe according to the extent of lung involvement, whether caused by bacteria or virus, accumulation of tissue and cells not normally found in the lungs, the rate of progress, and the presence of complications. The patient sometimes has no fever. In others the onset may be rapid with fever, suggesting an acute respiratory infection. Symptoms such as shortness of breath on exertion, cough, lack of oxygen, loss of appetite, weight loss, weakness and chest pains may be present. (For more information on this disorder, choose "Pneumonia" as your search term in the Rare Disease Database). Q Fever is a disorder transmitted from sheep to man. Patients may experience headache, fever, chills, sweats, coughing, and inflammation of the lungs. They may also experience excess tiredness, muscle pain, chest pain, sore throat, nausea, vomiting, and diarrhea. Prolonged Q Fever may result in inflammation and enlargement of the liver with upper right abdominal pain, fever, fatigue, and yellowing of the skin (jaundice). Inflammation of the lining of the heart may also occur. (For more information on this disorder, choose "Q Fever" as your search term in the Rare Disease Database). Brucellosis is an infectious disease characterized by sudden and acute, weakness, profuse sweating and vague aches and pains. Chills and fever, severe headache, pains, malaise, and occasionally diarrhea may also occur. The disorder occurs worldwide, most often as a result of drinking unpasteurized milk. (For more information on this disorder, choose "Brucellosis" as your search term in the Rare Disease Database). Hepatitis B virus usually has a one to six week incubation period during which a certain antigen circulates in the blood before symptoms of the illness develop. Hepatitis B, which is usually transmitted from mother to child or through bodily fluids, may initially appear as influenza symptoms, fever, headache, eye-ear-nose-throat involvement, chills, tiredness, itchy rash, etc., followed by nausea, vomiting and yellow discoloration of the skin. (For more information on this disorder choose "Hepatitis" as your search term in the Rare Disease Database.) Meningitis in adults and children is often preceded by respiratory illness or a sore throat. In its acute form, the disorder is characterized by fever, headache, a stiff neck, nausea, vomiting, sometimes with aching muscles. (For more information on this disorder choose "Meningitis" as your search term in the Rare Disease Database.) Mononucleosis is thought to occur after exposure to the Epstein-Barr virus. The disorder occurs after a patient feels unwell for a few days. They will have a severe headache, swollen glands in the armpits, groin and neck, fever and a sore throat, puffy eyes, swollen tonsils, a skin rash and loss of appetite. The spleen and liver may also become enlarged and the patient may notice a yellowish discoloration to their skin (jaundice). Therapies: Standard Treatment of Psittacosis in humans usually consists of antibiotic drug therapy. The drug tetracycline is the most commonly used antibiotic but others have been found to be helpful also. Among those are minocycline, floxacin, and erythromycin. Treatment of Psittacosis in birds includes injecting oxytetracycline into the muscle followed by injections just under the skin of the bird with the same drug every 2-3 days. Alternatively daily feedings of food treated with antibiotics may cure the disease. Larger birds such as Macaws may be treated with the drug chlortetracycline added to their food. Therapies: Investigational This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Disease 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 404-329-3534 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1564, 1735-1737. GENETIC, IMMUNOLOGIC, AND PATHOLOGIC CHARACTERIZATION OF AVIAN CHLAMYDIAL STRAINS, A.A. Anderson, et al.; J Am Vet Med Assoc, (December 1989, issue 1; 195 (11)). Pp. 1512-1516. AN OUTBREAK OF PSITTACOSIS IN MINNESOTA TURKEY INDUSTRY WORKERS: IMPLICATIONS FOR MODES OF TRANSMISSION AND CONTROL; K. Hedberg, et al.; Am J Epidemiol (September, 1989, issue 130 (30)). Pp. 569-577. PSITTACOSIS PNEUMONIA, R. Stubbs, et al.; J Tenn Med Assoc. (April, 1989, issue 82 (4)). Pp. 189-190. POTENTIAL USE OF LONG-ACTING INJECTABLE OXYTETRACYCLINE FOR TREATMENT OF CHLAMYDIOSIS IN GOFFIN'S COCKATOOS., K. Flammer. et al,; Avian Dis (January-March, 1990, issue 34 (1)). Pp. 228-234. Psittacosis )pagetitle 836: Psittacosis 04151.TXT ,Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 468: Psoriasis _________________________ ** IMPORTANT ** It is possible the main title of the article (Psoriasis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Information on the following disorders may be found in the Related Disorders section of this report: Lichen Planus Pityriasis Rosea Eczema General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots (papules) or plaques which usually appear on the scalp, elbows, or knees. Symptoms Symptoms of Psoriasis usually begin between ages 10 and 40, but no age is exempt. The disorder tends to occur in families. Symptoms may begin gradually. Recurrent outbreaks tend to vary in frequency and duration according to severity of the case. Psoriasis characteristically involves the scalp, extremities (particularly the elbows and knees), the back and buttocks. The nails, eyebrows, armpit (axilla), navel, or anus and genital region may also be affected. In a few cases, the entire body may be affected. Sharply outlined lesions consist of red spots or plaques covered with overlapping silvery gray shiny scales. They usually do not itch. These lesions may heal without scarring and hair growth near the plaques is not affected. Papules sometimes extend and grow together, producing large plaques in ring or spiral patterns. Nail involvement may resemble a fungal infection, with stippling, pitting, fraying or separation of the edges, thickening, discoloration, and/or the appearance of debris under the nail plate. Psoriatic arthritis (which involves the joints in addition to the skin symptoms), often closely resembles Rheumatoid Arthritis. (For more information on these disorders, choose "Psoriatic Arthritis" as your search term in the Rare Disease Database and see the Arthritis section in the Prevalent Health Conditions/Concerns area of NORD Services.) In severe cases, Psoriasis lesions may appear in pustular form. General health usually is not affected, unless severe arthritis or untreatable scaling develops. However, stress may be caused by the stigma of an unsightly skin disorder. Causes The exact cause of Psoriasis is not known, but the thick scaling is probably due to increased skin cell proliferation. A family history of Psoriasis is common and usually reflects an autosomal dominant inheritance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Psoriasis is a common disorder affecting about 2 to 4% of the United States population. Most of the affected individuals are of European heritage. Psoriasis in people of African heritage is rare. Related Disorders Symptoms of the following disorders are similar to those of Psoriasis. Comparisons may be useful for a differential diagnosis: Lichen Planus is a recurrent, itchy, inflammatory skin eruption characterized by small separate, angular spots that may coalesce into rough scaly patches. It is often accompanied by lesions in the mouth. Women are most commonly affected, and children are rarely affected. The cause of this disorder is unknown, though some minerals such as bismuth, arsenic, or gold, or exposure to certain chemicals used in developing color photography may cause an eruption indistinguishable from Lichen Planus. (For more information on this disorder, choose "Lichen Planus" as your search term in the Rare Disease Database.) Pityriasis Rosea is a self-limited, mild, inflammatory skin disorder characterized by scaly lesions, most commonly on the trunk. The disorder is possibly due to an unidentified infectious agent. It may occur at any age but is seen most frequently in young adults. In temperate climates, incidence is highest during spring and autumn. Eczema is a superficial inflammation of the skin, characterized by blisters (when acute), redness, swelling (edema), oozing, crusting, scaling, and usually itching. Scratching or rubbing may lead to thickening of the skin (lichenification). Therapies: Standard The simplest forms of treatment for Psoriasis are lubricants, drugs which dissolve the horn-like scales (keratolytics), and local corticosteroid drugs. These are usually tried first because the number of effective remedies is limited. Exposure to sunlight is recommended, though occasionally sunburn may induce eruptions in some people. Systemic antimetabolic drugs should be used only in severe cases with skin or joint involvement. Systemic corticosteroid drugs should not be used because of the side effects, including worsening of skin lesions occurring either during or after therapy. Lubricating creams, hydrogenated vegetable oils, or white petroleum jelly (e.g. Vaseline) are applied alone or with added corticosteroid drugs, salicylic acid, crude coal tar, or anthralin (dithranol) while the skin is still damp after bathing. Alternatively, crude coal tar ointment or cream may be applied at night and washed off in the morning, followed by exposure to natural or artificial (280 to 320 nm) ultraviolet light in slowly increasing amounts. Anthralin can be effective as an ointment applied carefully to the lesions under a dressing which does not seal off the lesion completely at bedtime. It should be removed in the morning with mineral oil. Anthralin may be irritating and should not be used in folds of the skin such as the neck, armpit and groin. Anthralin stains sheets and clothing as well as the skin. Local corticosteroid drugs may be used as an alternative or in combination with anthralin or coal tar treatment. Corticosteroid creams such as triamcinolone acetonide are most effective when used overnight with waterproof plastic coverings or impregnated in adhesive tape. A corticosteroid cream may be applied without a plastic covering during the day. If potent fluorinated corticosteroids are applied to large areas of the body, especially under a plastic covering, Psoriasis may be aggravated as with systemic corticosteroids. For small, localized lesions, fluorandrenolide-impregnated tape left on overnight and changed in the morning is usually effective. Relapses may occur after application of local corticosteroids more quickly than with other treatments. Thick scalp plaques may be more difficult to treat. A preparation containing an oily solution of phenol and sodium chloride, or salicylic acid in mineral oil may be rubbed in at bedtime with a toothbrush and washed out the next morning with a detergent shampoo. A shower cap can be worn in bed to enhance penetration and to avoid staining. Tar-containing shampoos are often used. Local corticosteroid lotions or gels may be applied during the day. Resistant skin or scalp patches may respond to local injections of a suspension of the glucocorticoid drug, triamcinolone acetonide diluted with saline solution. However, these injections may cause local tissue shrinkage. Psoralens and ultraviolet A (PUVA) is another treatment for severe Psoriasis. The sun-protecting drug methoxsalen (a psoralen compound) in oral form is followed by exposure of the skin to long-wave ultraviolet light under supervision of a dermatologist. This therapy may produce remissions for several months, but repeated treatments may cause skin cancer in some cases. The cancer-fighting drug methotrexate, taken orally, is the most effective treatment in the most severe cases of Psoriasis that are unresponsive to other available therapies. Methotrexate seems to interfere with the rapid growth of skin cells. Because the potential toxicity requires careful monitoring of blood, kidney and liver function, and because dosage regimens vary, methotrexate therapy should be carefully monitored by physicians experienced in its use for Psoriasis. The immunosuppressive drug cyclosporine (sandimmune) is used for short-term treatment of severe psoriasis that has not responded to other standard therapies such as UVB light treatment, methotrexate or etretinate. Cyclosporine suppresses thre immune system, so long-term use and/or high dosage can make a person vulnerable to other disorders. Therapies: Investigational The retinoid drug etretinate (Tegison) has been used in Europe in the treatment of Psoriasis, especially the pustular type, and in Psoriasis of the hands and feet. More research is necessary to establish effectiveness and safety of retinoid drugs as a treatment for Psoriasis. Clinical trials are underway to compare bath water PUVA therapy with of other modalities in the treatment of Psoriasis. Interested persons may wish to contact: D. Martin Carter, Ph.D. Laboratory for Investigative Dermatology The Rockefeller University Hospital New York, NY 10021 (212) 570-8091 to see if further patients are needed for this research. This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Psoriasis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Psoriasis Foundation 6443 S.W. Beaverton Highway, Suite 210 Portland, OR 97221 Psoriasis Research Association 107 Vista del Grande San Carlos, CA 94070 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INTERNAL MEDICINE: Jay H. Stein, et al., eds.; Merck, Sharp & Dohme, 1982. Pp. 1374-1377. EFFECT OF CONTINUED ULTRAVIOLET B PHOTOTHERAPY ON THE DURATION OF REMISSION OF PSORIASIS: A RANDOMIZED STUDY: R.S. Sterns, et al.; Journal Am Acad Dermatol (September 1986: issue 15(3)). Pp. 546-552. Psoriasis .pagetitle 468: Psoriasis 04152.TXT Copyright (C) 1988, 1989, 1993 National Organization for Rare Disorders, Inc. 594: Pulmonary Alveolar Proteinosis _________________________ ** IMPORTANT ** It is possible that the main title of this article (Pulmonary Alveolar Proteinosis) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Phospholipidosis Information on the following disorders can be found in the Related Disorders section of this report: Pneumonia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Pulmonary Alveolar Proteinosis is a rare lung disorder characterized by the filling of the air sacs of the lungs (alveoli) with grainy material consisting mostly of protein and fat. Breathing becomes progressively difficult. The disorder occurs in different forms, ranging from mild to severe. Symptoms Pulmonary Alveolar Proteinosis is a rare lung disorder characterized in most cases by breathing difficulty that gradually becomes more severe, especially following exertion. However, some patients show no symptoms of the disorder. The air sacs in the lungs (alveoli) are filled with a granular material consisting mostly of protein and fat (phospholipid). Certain cells called macrophages, that usually swallow inhaled particles in the lung alveoli, can be found to contain the phospholipid material. This disorder may spread throughout the lungs or be confined to a small area. The disorder may progress, remain stable, or spontaneously clear. The lower and rear lung regions are most commonly affected. Occasionally, only the front segments may be involved. Causes The exact cause of Pulmonary Alveolar Proteinosis is not known. Exposure to aluminum dust has been related to onset of this disorder in rare cases. A few cases have occurred in patients with impaired immune systems. ADD Disorder may, in some cases, be closely related to a generalized resistance to thyroid hormone. Researchers have studied the subject with the conclusion being that there is evidence of a familial predisposition to the disorder in some persons with a generalized resistance to thyroid hormone. Affected Population Pulmonary Alveolar Proteinosis affects males in greater numbers than females. Most cases begin between 20 and 50 years of age. Related Disorders Symptoms of the following disorder can resemble those of Pulmonary Alveolar Proteinosis. Comparisons may be useful for a differential diagnosis: Pneumonia is an acute infection of the alveolar spaces and/or the interstitial tissue of the lung. A whole lobe or only a part of a lobe can be involved. The pneumonia may be caused by different bacteria, viruses, fungi, or protozoa. Pneumonia is often preceded by upper respiratory infection. Symptoms usually start suddenly, with a shaking chill, sharp pain in the affected side of the chest, a cough, a high fever, and a headache. Breathing is difficult and painful. Therapies: Standard Mild cases of Pulmonary Alveolar Proteinosis may spontaneously go into remission. More severe cases of this disorder may be treated by lavage under general anesthesia; i.e., rinsing out one of the lungs while the other lung keeps breathing. In some cases only one lavage is necessary while in other cases the lavage needs to be repeated several times. Secondary lung infections should be promptly identified and treated. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pulmonary Alveolar Proteinosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Blood and Lung Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Info-Line 1-800-222-LUNG References BRONCHOPULMONARY LAVAGE IN PULMONARY ALVEOLAR PROTEINOSIS: CHEST RADIOGRAPH OBSERVATIONS: M.E. Gale, et al.; AJR (May 1986: issue 146(5)). Pp. 981-985. TOTAL LUNG LAVAGE FOR PULMONARY ALVEOLAR PROTEINOSIS IN AN INFANT WITHOUT THE USE OF CARDIOPULMONARY BYPASS: F. Moazam, et al.; Journal Pediatr Surg (August 1985: issue 20(4)). Pp. 398-401. MORPHOLOGIC DIAGNOSIS OF IDIOPATHIC PULMONARY ALVEOLAR LIPOPROTEINOSIS REVISITED: I. Rubinstein, et al.; Arch Int Med (April 1988: issue 148(4)). Pp. 813-816. Pulmonary Alveolar ProteinosisM pagetitle 594: Pulmonary Alveolar Proteinosis 04153.TXT `)?)Copyright (C) 1990, 1992 National Organization for Rare Disorders, Inc. 706: Pulmonary Hypertension, Primary _________________________ ** IMPORTANT ** It is possible that the main title of the article (Primary Pulmonary Hypertension) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Primary Pulmonary Hypertension PPH Primary Obliterative Pulmonary Vascular Disease Information on the following diseases can be found in the Related Disorders section of this report: Cor Pulmonale Interstitial Pneumonia Pulmonary Hypertension, Secondary Persistent Pulmonary Hypertension of the Newborn General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Primary Pulmonary Hypertension is a very rare and progressive vascular disease. It is characterized by excessively high pulmonary artery pressure, and multiple lesions that affect the small size arteries (arterioles) that lead to the capillaries of the lungs. These lesions are widespread in the lung. Eventually, there is a reduction in the amount of blood able to be forced out by the right ventricle of the heart. Symptoms Primary Pulmonary Hypertension is a rare disorder characterized by scattered disease changes in the arteries and capillaries of the lungs. Symptoms that are associated with this disorder are shortness of breath (with or without exertion), excessive fatigue, weakness, chest pain and fainting. Some patients may have puffiness of the face, swelling of the eyelids and a blue-gray color to the skin (cyanosis). A cough, sometimes with blood (hemoptysis), an enlarged heart and liver, low blood pressure, and eventual heart failure are also symptomatic of Primary Pulmonary Hypertension. Since routine laboratory tests may prove inconclusive in diagnosing this disease, a cardiac catherization and pulmonary angiography may be necessary. Causes The exact cause of Primary Pulmonary Hypertension is unknown. There may be a genetic predisposition to this disorder transmitted through autosomal dominant genes if the incidence occurs in several generations of the same family. If it occurs in a single generation of the same family it may be transmitted through autosomal recessive genes. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. When Primary Pulmonary Hypertension occurs without any family history, it's cause is unknown. A genetic pre-disposition means that a person may carry a gene for a disease, but it may not be expressed unless something in the environment triggers the disease process. Affected Population Primary Pulmonary Hypertension occurs more frequently in females than in males. It tends to affect females between the age of 20 and 50, while in males it usually occurs later in life. This disorder also occurs more frequently at higher altitude levels than at sea level. Related Disorders Symptoms of the following disorders can be similar to those of Primary Pulmonary Hypertension. Comparisons may be useful for a differential diagnosis: Cor Pulmonale is a term that denotes enlargement of the right ventricle of the heart that occurs as a result of severe lung disease. It is used as a term for pulmonary heart disease which affects both the heart and lungs. A common cause of Cor Pulmonale is massive clotting in the lungs which results in increased pressure in the right ventricle of the heart, usually resulting in heart failure. Other causes may be chronic bronchitis, emphysema, and extensive loss of lung tissue from surgery or injury. Symptoms usually include enlargement of the right side of the heart, difficulty breathing, fainting spells on exertion, and substernal angina pain in the chest. (For more information on this disorder, choose "Cor Pulmonale" as your search term in the Rare Disease Database.) Interstitial Pneumonia is a type of primary pneumonia. It involves the spaces and tissues in the lining of the lungs with abnormal increases in these tissues. Major symptoms may include shortness of breath on exertion, coughing and loss of appetite. The symptoms may vary from mild to severe according to the extent of involvement. The patient usually has no fever, and there is usually not an over production of mucous. (For more information on this disorder, choose "Interstitial Pneumonia", as your search term in the Rare Disease Database). Secondary Pulmonary Hypertension is due to a disorder of the lungs. It rarely occurs on its own and is usually the result of other lung disease or related diseases in other organs. This disorder is characterized by breathing difficulties, especially after exertion. (For more information on this disorder, choose "Secondary Pulmonary Hypertension" as your search term in the Rare Disease Database). Persistent Pulmonary Hypertension of the Newborn occurs most often in full-term or overly-developed newborns. Infants with this disorder have no obvious symptoms of heart or lung disease, but will have a high level of acid, or a lack of bicarbonate content in the blood and body tissues (acidosis). They will also have rapid respiration (tachypnea) and a blue-gray color to the skin (cyanosis). It is believed to be caused by insufficient oxygen in the blood flowing to the lungs, just before, during or after birth (perinatal hypoxemia). Primary Pulmonary Hypertension is treated with drugs such as nifedipine, isoproterenol, phentolamine, phenoxybenzamine and prazosin. The intravenous drug prostacyclin may also be used to dilate the blood vessels in the lung. Other drugs include vasodilator drugs, alpha-adrenergic blocking agents, beta agonists and prostaglandins. However, none of these drugs cure or halt the progression of this disease. Genetic counseling may be of benefit for patients and their families with a family history of this disorder. Therapies: Investigational The orphan drug epoprostenol is being tested as a treatment for Primary Pulmonary Hypertension. For more information on this drug, physicians may contact Burroughs Welcome, 3030 Cornwallis Rd., Research Triangle Park, NC 27709. In severe cases of Primary Pulmonary Hypertension that have not responded to other therapies, a heart-lung transplant may be performed. This type of surgery carries a high risk, but it has been successful in some cases. Clinical trials are underway to study family members of patients with Primary Pulmonary Hypertension. Interested persons may wish to contact: Dr. John H. Newman Vanderbilt University B1308 Medical Center North Nashville, TN 37232 (615) 386-6891 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Primary Pulmonary Hypertension, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Pathlight is a quarterly newsletter for patients with Pulmonary Hypertension published by: United Patients' Association for Pulmonary Hypertension, Inc. 1060 Pembroke Ave., NE Palm Bay, FL 32907 The Foundation for Pulmonary Hypertension, Inc. P.O. Box 61540 New Orleans, LA 70130 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Blood and Lung Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 647; 1158. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 527;675. PULMONARY DISEASES AND DISORDERS, 2nd edition, Alfred P. Fishman, McGraw-Hill Book Co., 1988. Pp. 999-1025. THE MERCK MANUAL, Volume 2, 14th Ed.: Robert Berkow, M.D.; ed.-in-chief; Merck Sharp & Dohme Laboratories., 1982. Pp. 278. FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS RESULTING IN PRIMARY PULMONARY HYPERTENSION, D. Langleben et al.; ANN INTERN MED (JULY 15, 1988; issue 109(2)). Pp. 106-109. CURRENT APPROACH TO TREATMENT OF PRIMARY PULMONARY HYPERTENSION, B.M. Groves, et al.; CHEST (March, 1988, issue 93 (Suppl)). Pp. 175s-178s... Pulmonary Hypertension, Primary rodus* v*pagetitle 706: Pulmonary Hypertension, Primary 04154.TXT Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc. 671: Pulmonary Hypertension, Secondary _________________________ ** IMPORTANT ** It is possible that the main title of the article (Secondary Pulmonary Hypertension) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Pulmonary Arterial Hypertension Information on the following diseases can be found in the Related Disorders section of this report: Cor Pulmonale Interstitial Pneumonia Pulmonary Hypertension, Primary General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Secondary Pulmonary Hypertension is a disorder of the blood vessels in the lungs. It usually is the result of other lung diseases or related diseases in other organs. The disorder is characterized by breathing difficulties, especially after exertion. Symptoms Secondary Pulmonary Hypertension is characterized by symptoms of breathlessness, anxiety, rapid breathing (tachpnea), chest pain and in extreme cases heart failure. Measurements of right and left descending pulmonary artery diameter can provide a correct diagnosis in 98% of patients with suspected Pulmonary Hypertension. In the right lung artery a diameter over 16.7mm and in the left lung artery a diameter of over 16.9mm, is an indication of excessively high lung pressure. Causes There can be a number of causes of Secondary Pulmonary Hypertension. Lung disease such as Interstitial Lung Disease, blood clots in the pulmonary arteries, decrease in the size of blood vessels (pulmonary vasoconstriction), a form of Scleroderma called CREST Syndrome (characterized by Calcenosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactylia and Telangiectosis) may cause Pulmonary Hypertension. Other causes may be living at high altitude, thickening of the blood, and portal hypertension. Secondary Pulmonary Hypertension may also occur for unknown reasons. Affected Population Secondary Pulmonary Hypertension is a disease that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Secondary Pulmonary Hypertension. Comparisons may be useful for a differential diagnosis: Cor Pulmonale is a term that denotes enlargement of the right ventricle of the heart that occurs as a result of disease in the lungs. It is used as a synonym for pulmonary heart disease. The most common cause of Cor Pulmonale is massive clotting in the lungs which results in increased pressure in lungs and heart, usually resulting in heart failure. Other causes may be chronic bronchitis, emphysema, and extensive loss of lung tissue from surgery or injury. Symptoms usually include right heart enlargement, difficulty breathing, fainting spells on exertion, and substernal angina pain. Interstitial Pneumonia is a type of primary pneumonia. It involves the spaces and tissues in the lining of the lungs with abnormal increases in these tissues. Major symptoms may include shortness of breath on exertion, cough and loss of appetite. The symptoms may vary from mild to severe according to the extent of involvement. The patient usually has no fever, and there is usually not an over production of mucous. (For more information on this disorder, choose "Interstitial Pneumonia" as your search term in the Rare Disease Database). Primary Pulmonary Hypertension is a rare lung disorder of unknown cause. It occurs most often in young women. it is characterized by high pulmonary artery pressure, right ventricular failure, breathing difficulty, chest pain and fainting. it is progressive and usually follows a rapid course. Drug therapy may slow the progress of the disease including the intravenous drug prostacyclin, vasodilators, alpha-adrenergic blocking agents, beta agonists and prostaglandins. There is no known cure for this disease and the patient may eventually need a heart-lung transplant. Therapies: Standard Prior to treatment of Secondary Pulmonary Hypertension, tests to confirm the diagnosis and degree of this disorder should be carried out. This may be done by a right-sided cardiac catheterization or use of echo-cardiography. After diagnosis, physical activity should be limited and any underlying causes such as: heart disease, clogged arteries or living at high altitude should be treated. Drug therapy to treat Pulmonary Hypertension may include the use of vasodilators such as: epoprostenol, hydralazine and nifedipine. Therapies: Investigational In extreme cases a Heart/Lung transplant may be necessary for people with Secondary Pulmonary Hypertension. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Secondary Pulmonary Hypertension, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Pathlight is a quarterly newsletter for patients with Pulmonary Hypertension. PATHLIGHT 1060 Pembroke Ave., NE Palm Bay, FL 32907 The Foundation for Pulmonary Hypertension, Inc. P.O. Box 61540 New Orleans, LA 70130 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-8700 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Blood and Lung Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References PULMONARY DISEASES AND DISORDERS, 2nd edition, Alfred P. Fishman, McGraw-Hill Book Co., 1988, Pp. 999-1025. CURRENT APPROACH TO TREATMENT OF PRIMARY PULMONARY HYPERTENSION, B.M. Groves, et al,; Chest (March, 1988, issue 93 (3 Suppl)). Pp. 175S-178S. FUNCTIONAL TRICUSPID REGURGITATION AND RIGHT VENTRICULAR DYSFUNCTION IN PULMONARY HYPERTENSION. D.A. Morrison, et al,; Am J Cardiol, (July, 1988, 62 (1)). Pp. 108-112. PREDICTION OF FAVOURABLE RESPONSES TO LONG-TERM VASODILATOR TREATMENT OF PULMONARY HYPERTENSION BY SHORT TERM ADMINISTRATION OF EPOPROSTENOL (PROSTACYCLIN) OR NIFEDIPINE. A. Rozkovec, et al,; Br Heart J (June, 1988, 59 (6)). Pp. 696-705.. Pulmonary Hypertension, Secondary d; M5 pagetitle 671: Pulmonary Hypertension, Secondary 04124.TXT /Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 404: Pompe Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Pompe Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Acid Maltase Deficiency Alpha-1,4 Glucosidase Deficiency Cardiomegalia Glycogenica Diffusa Generalized Glycogenosis Glycogen Storage Disease Type II Glycogenosis Type II Lysosomal Glucosidase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Von Gierke Disease Forbes Disease McArdle Disease Tarui Disease Andersen Disease Werdnig-Hoffmann Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pompe Disease is a glycogen storage disease. This hereditary metabolic disorder is caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase). This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes of all body tissues, due to an inability to break down the glycogen. The glycogen accumulates in the lysosomes, which swell and cause cell damage or death. Symptoms Pompe Disease occurs in different degrees of severity, and onset can occur at various ages. INFANTILE FORM: Onset of symptoms usually occurs at 2 to 5 months of age, but the child may be affected at birth. Severe muscle weakness without muscle wasting usually occurs within the first few months of life. An enlarged heart (cardiomegaly), enlarged liver (hepatomegaly), and enlarged tongue (macroglossia) also occurs. Progressive cardiac failure usually causes death by 12 to 18 months of age. CHILDHOOD FORM: This form of Pompe Disease usually begins in late infancy or early childhood. The disorder progresses more slowly than the early infantile form. The extent of organ involvement varies between patients but skeletal muscle weakness is usually present with minimal cardiac involvement. Life expectancy for children with this form of the disorder is longer than for the infantile form with survival into the second decade. ADULT FORM: Symptoms of the adult onset form of Pompe Disease include muscle weakness such as that found in other chronic muscle disorders. Onset of symptoms usually occurs in the second to fourth decade. This form of the disorder is slowly progressive without cardiac involvement, and life expectancy is usually normal. Causes Pompe Disease is a disorder inherited through autosomal recessive genes. Symptoms are caused by a lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase) which is needed for glycogen breakdown in the lysosomes. This enzyme deficiency causes an increased concentration of glycogen in body tissues (mainly the muscles) and causes cell damage resulting in muscle weakness. Patients with Type II Glycogen Storage Disease do not have problems with too little sugar (hypoglycemia) in the blood in contrast to other types of glycogen storage disorders (e.g., Type I and Type III.) Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Pompe Disease and all other glycogen storage disorders together affect less than 1 in 40,000 persons in the United States. Males and females are affected in equal numbers. While most cases involve infants and children, some slowly progressive adult cases have been described in the medical literature. Related Disorders Most Glycogen Storage Diseases are inborn errors of metabolism in which the balance between stored energy (glycogen), and available energy (sugar or glucose), is disturbed. In some of these disorders the breakdown of glycogen into sugar is slowed. Too much glycogen tends to be stored in the liver and muscles, and too little sugar is available in the blood. In other Glycogen Storage Diseases, glucose cannot be built up into glycogen again. This results in an increased level of glucose in the blood. The following diseases are similar to Pompe Disease. These can be compared to Pompe Disease for a differential diagnosis: Von Gierke Disease is a glycogen storage disease. This hereditary metabolic disorder is caused by an inborn lack of either the enzyme glucose-6-phosphatase or the enzyme glucose-6-phosphate translocase. These enzymes are needed to convert the main carbohydrate storage material (glycogen) into sugar (glucose) which the body uses for its energy needs. A deficiency of these enzymes causes abnormal deposits of glycogen in the liver and kidney cells. (For more information on this disorder, choose "Von Gierke" as your search term in the Rare Disease Database.) McArdle Disease is a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by an inborn lack of the enzyme myophosphorylase. This enzyme is needed for the breakdown of glycogen (the body's form of stored energy) into sugar (glucose). Glucose is normally released as glucose-1-phosphate during strenuous exercise when the muscles need energy. In McArdle Disease the breakdown of glucose cannot take place and severe muscle cramps occur as a result of heavy exercise. (For more information on this disorder, choose "McArdle" as your search term in the Rare Disease Database.) Tarui Disease (Phosphofructokinase Deficiency) is another type of glycogen storage disease. Symptoms of this genetic metabolic disorder are caused by an inborn lack of the enzyme fructophosphokinase in muscle, and a partial deficiency of this enzyme in red blood cells. The deficiency prevents the breakdown of glucose into energy. Tarui Disease is characterized by pain and muscle cramps during muscle stress, but usually causes less severe symptoms than McArdle Disease. (For more information on this disorder, choose "Tarui" as your search term in the Rare Disease Database.) Forbes Disease (Glycogenosis III; Cori Disease) is another glycogen storage disease inherited through autosomal recessive genes. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase. This enzyme deficiency causes excess amounts of glycogen (the stored form of energy from carbohydrates) to be deposited in the liver, muscles, and heart. The nerves on the back of the legs and on the sides of the heel and foot (sural nerves) also accumulate excess glycogen. (For more information on this disorder, choose "Forbes" as your search term in the Rare Disease Database.) Andersen Disease is a glycogen storage disease inherited through recessive genes. Symptoms of this metabolic disorder are caused by a lack of the brancher enzyme amylo transglucosidase. The deficiency of this enzyme causes an abnormality in the structure of the main carbohydrate storage material (glycogen). This structural abnormality of glycogen is thought to trigger the body's immune system. Consequently the immune system attacks the glycogen in the liver, spleen and muscles where glycogen is primarily stored. Andersen Disease is characterized by scarring of the liver (cirrhosis) which may lead to liver failure. (For more information on this disorder, choose "Andersen" as your search term in the Rare Disease Database.) Werdnig-Hoffmann Disease (Infantile Spinal Muscular Atrophy) is a severe and usually rapidly progressive neuromuscular disorder that is not related to glycogen storage diseases. It is inherited as a recessive trait and usually begins during infancy. Werdnig-Hoffmann Disease is characterized by a generalized flaccid and symmetrical wasting (atrophy) and weakness of the muscles of the trunk and extremities. Symptoms may be caused by degenerative changes in certain nerve cells of the spinal cord (ventral horn cells). This weakness, known as the amyotonia congenita syndrome, is also found in other neuromuscular disorders. A rapidly progressive form of this condition affects infants, whereas a more slowly progressive form affects adults. ("For more information on this disorder, choose "Werdnig" as your search term in the Rare Disease Database.) Therapies: Standard Prenatal diagnosis of Pompe Disease is possible by testing the activity of the enzyme alpha-1,4 glucosidase in cells cultured from the mother's amniotic fluid. Diagnosis after birth can be made by testing enzyme activity in white blood cells, as well as the glycogen concentration in muscle cells. Treatment of Pompe Disease is symptomatic and supportive. Attempts at enzyme replacement have been tried, but have not been successful to date. Genetic counseling will be helpful to the families of children with Pompe Disease. Therapies: Investigational Dr. Y.T. Chen at Duke University Medical Center, at the request of the Glycogen Storage Disease Association, is collecting DNA from patients with Glycogen Storage Disease Type I to form a DNA bank for GSDI. Interested patients may contact the Glycogen Storage Diseases Association for further information. The address and phone number of the organization are listed in the Resources section of this report. This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pompe Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Glycogen Storage Diseases Box 896 Durant, IA 52747 (319) 785-6038 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Dr. Alfred Slonim Center for Inborn Errors of Metabolism North Shore University Hospital Manhasset, NY 11030 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1453. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 361, 1134. Pompe Disease s in!0 $0pagetitle 404: Pompe Disease 04125.TXT "Copyright (C) 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 675: Porphyria _________________________ ** IMPORTANT ** It is possible the main title of the article (Porphyria) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Disorder Subdivisions: Acute Intermittent Porphyria Variegate Porphyria Hereditary Coproporphyria Protoporphyria Porphyria Cutanea Tarda Congenital Erythropoietic Porphyria ALA-D Porphyria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Porphyria is not one, but at least seven types of rare and complex disorders. The different types vary in their clinical presentation. Basically the clinical problems group themselves into disorders of the nervous system and skin. Sometimes these symptoms are so ill-defined that proper diagnosis is delayed. The urine of some patients is a purple-red color or changes to that color when exposed to light. ACUTE INTERMITTENT PORPHYRIA Abdominal pain is the most common complaint in Acute Intermittent Porphyria. In addition, some of the following symptoms occur with varying frequency: pain in the arms and leg, generalized weakness, vomiting, confusion, constipation, tachycardia, fluctuating blood pressure, urinary retention, psychosis, hallucinations, and seizures. The muscle weakness may progress to respiratory paralysis, necessitating artificial respiration. Porphobilinogen is elevated during the attack but may be consistently high in some patients. urine may exhibit a purple-red color. Unlike other forms of porphyria, sun sensitivity is not present in this type. VARIEGATE PORPHYRIA Variegate Porphyria is characterized by abrasions, blisters, and erosions of the skin which are commonly seen during the second and third decade. These lesions tend to heal slowly, often leaving pigmented or slightly depressed scars. The patients experience sensitivity to light and fragility of skin exposed to the sun. Although in many patients manifestations remain limited to the skin, episodes similar to those of acute porphyria are not uncommon. Therefore, the symptoms, drugs, precautionary measures, and treatment described for Acute intermittent porphyria are applicable to variegate porphyria. (See the Standard Therapy section. HEREDITARY COPROPORPHYRIA The large amounts of coproporphyrin present in Hereditary Coproporphyrin makes the patient sensitive to sunlight, but skin disease is rarely severe in this type of porphyria. Clinically it resembles Variegate Porphyria except that a larger percentage of affected individuals exhibit few symptoms. Other symptoms are similar to those listed for Acute Intermittent Porphyria. PROTOPORPHYRIA Protoporphyria can have mild to severe light sensitivity and burning on exposure to the sunlight. Usually, the symptoms subside in twelve to twenty-four hours and heal without significant scarring or discoloration to the skin. The skin lesions may also progress to a chronic stage persisting for weeks and healing with a superficial scar. These manifestations generally begin in childhood. They are more severe in the summer and can recur throughout life. Affected skin, at times, exhibits the fragility or blister formation seen in other photosensitizing types of porphyria. Hepatobiliary dysfunction may be associated with significant liver damage. PORPHYRIA CUTANEA TARDA In Porphyria Cutanea Tarda, exposed skin shows abnormalities similar to those found in variegate porphyria. They range from slight fragility of the skin to persistent scarring and disfiguration. Due to fragility of the skin, minor trauma may induce blister formation. Areas of increased and decreased pigment content may be noted on the skin. Blistering of light exposed skin and increased hair growth, especially on the face, are also characteristic. CONGENITAL ERYTHROPOIETIC PORPHYRIA This is a very rare disease with approximately 150 patients reported in the world. Congenital Erythropoietic Porphyria is often manifested shortly after birth with dark urine and sunlight sensitivity causing blistering and skin fragility. Later, brownish, fluorescent teeth, increased hair growth, and pronounced scarring may occur. In some cases, loss of fingers and toes and cartilage from ears or nose may be noted. ALA-D PORPHYRIA ALA-D Porphyria symptoms usually arise from effects on the nervous system and/or the skin. Sometimes, the cause of the nervous system symptoms is not clear. Skin manifestations include burning, blistering, and scarring of the sun exposed areas. The disease usually manifests after puberty, and more commonly occurs in women. The most common symptom is severe abdominal pain. Other characteristics are nausea, vomiting, rapid heart rate, increased blood pressure, confusion and/or seizures, and the passing of ALA (delta-aminolevulinic acid) in the urine. For more complete information on each of the individual types of Porphyria, choose "Porphyria" as your search term in the Rare Disease Database.) Causes The porphyrias are most often inherited. There is a unique enzyme deficiency in each type of the disease. These enzymes are involved in the synthesis of heme, the oxygen carrying part of hemoglobin in red blood cells. Virtually all cases or porphyria have a dominant inheritance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Therapies: Standard The basic defect cannot presently be treated, but significant effort is being directed toward treating the underlying mechanisms that cause symptoms. Drugs which are considered harmful for persons with Acute Intermittent Porphyria, Varigeta Porphyria, and Hereditary Coproporphyria include: 1. Barbiturates 2. Sulfonamides 3. Other tranquilizers and sedatives 4. Griseofulvin 5. Anti-epilepsy drugs. 6. Birth control pills The orphan drug Hemin 2,3, is approved for use as a treatment for various forms of Porphyria. It is manufactured by Abbott Labs. Therapies: Investigational Dr. Karl Anderson of Texas Medical Branch, Galveston, TX, 77550, has received orphan drug designation for Histrelin, a drug to treat various types of Porphyria. Leiras, manufacturer of the drug heme arginate for treatment of Porphyria, has agreed to supply the United States with the drug for studies here. Heme Arginate may prove to be a safer product for treatment of acute prophyrias as there are fewer side effects. Leiras is the pharmaceutical division of the Finish company Huhtamaki Corp. For more information, please contact: Ms. Pirjo Pietilainen Leiras P.O. Box 415 SF-20101 Turku Finland This disease entry is based upon medical information available through July 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Porphyria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation Brochure, "Common Questions Asked About Porphyria.""""""" Porphyria #pagetitle 675: Porphyria 04126.TXT 'Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 321: Porphyria Cutanea Tarda _________________________ ** IMPORTANT ** It is possible the main title of the article (Porphyria Cutanea Tarda) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PCT Porphyria Cutanea Tarda Symptomatica Porphyria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Porphyria Cutanea Tarda (PCT) is the most common of the porphyrias. It results from a deficiency of the enzyme uroporphyrinogen decarboxylase (URO-D). The disorder can be caused by either inherited or acquired factors. PCT is one of the "hepatic" porphyrias, and large amounts of porphyrins can build up in the liver when the disease is active. When inherited, the enzyme deficiency is inherited as an autosomal dominant trait. In most individuals with the inherited enzyme deficiency, the disease remains latent and may never be symptomatic. The porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These "acute" symptoms can be both rapidly appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type or porphyria. The symptoms and treatments of the different types of porphyrias are not the same. For more information on the other forms of this disorder, choose "porphyria" as your search term in the Rare Disease Database. Symptoms The symptoms of Porphyria Cutanea Tarda are usually confined to the skin. Blistering after exposure to sunlight and/or minor trauma may occur on the hands, face and other sun-exposed areas. Increased hair growth, and darkening and thickening of the skin may also occur. Neurological and abdominal symptoms are not characteristic of PCT. Liver function abnormalities are common but are often mild. Porphyria Cutanea Tarda is the only type of porphyria that can be either acquired or inherited. All other types of porphyria are caused by genetic factors. The terms "porphyrin" and "porphyria" are derived from the Greek word "porphyrus," meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances, and the urine may darken after being exposed to the light. The symptoms of porphyria generally arise from effects on the nervous system and/or the skin. Sometimes, the effects on the nervous system are not clear, and proper diagnosis is delayed. Skin manifestations can include burning, blistering and scarring of sun-exposed areas. Causes Porphyria Cutanea Tarda (PCT) results from a deficiency of the enzyme uroporphyrinogen decarboxylase (URO-D) which can be caused by either inherited or acquired factors. A nutritional disorder may also be a contributing factor in PCT. Environmental factors may include drugs, chemicals, diet and sun exposure. Depending on the type of porphyria, these factors can greatly influence the severity of symptoms. Because all porphyrias are uncommon, it is very unlikely that more than one type will occur in the same family, or that someone with one type of porphyria will go on to develop another. Affected Population Porphyria Cutanea Tarda is more common in males, and usually occurs late in life. It is also found with unusually high prevalence in the Bantu people of southern Africa who also tend to have nutritional cirrhosis of the liver. Related Disorders The Porphyrias are a group of related disorders. For more information on each of the following types of the disease, choose "porphyria" as your search term in the Rare Disease Database. ALA-D Porphyria is a recently-described form of acute porphyria inherited as an autosomal recessive trait. It is apparently extremely rare. There is a deficiency of the enzyme delta-aminolevulinic acid dehydratase (ALA-D) and increased excretion of ALA in the urine of patients with this type of porphyria. Acute Intermittent Porphyria is a dominant hereditary disorder. A usually latent form of porphyria, it may be provoked into active disease by the administration of certain drugs, notably barbiturates, sulfonamides, and estrogen compounds. Congenital Erythropoietic Porphyria (CEP) is a hereditary disorder due to an inborn error of metabolism, and manifested in infancy. Faulty conversion of the enzyme PBG to uroporphyrinogen in erythroid cells of bone marrow, and red blood cells leads to this form of porphyria. Increased porphyrins also may be found in plasma, urine, feces, teeth and bones. Hereditary Coproporphyria (HCP) is a latent type of porphyria similar to Acute Intermittent Porphyria, although usually less severe. This disorder is due to an enzyme deficiency. Some patients may develop skin photosensitivity. Attacks are usually precipitated by exposure to drugs such as barbiturates, tranquilizers, anticonvulsants, and estrogens. Variegate Porphyria (VP) is a hereditary type of porphyria due to an inborn error of metabolism. Precipitating or aggravating factors may include exposure to barbiturates, sulfonamides, general anesthetics, excessive amounts of ethanol, and estrogens. Erythropoietic Protoporphyria (EPP) is a hereditary type of porphyria marked by an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes the liver. Excess protoporphyrin is excreted by the liver into the bile, which in turn enters the intestine and is excreted in the feces. There are no urinary abnormalities. The diagnosis is established by finding increased protoporphyrin in red blood cells, plasma and feces. Therapies: Standard The orphan drug Hematin (an intravenous drug) is very potent in suppressing acute attacks of the disease. It is usually given only after a trial of glucose therapy. Attention should be given to salt and water balance during treatment. Many types of drugs such as aspirin and certain antibiotics are believed to be safe in patients with some types of porphyria. Recommendations about drugs for certain types of porphyrias are based on experience with the porphyria patients in whom attacks have been caused by drugs and by tests in animals. Since many commonly used drugs have not been tested, they should be avoided if at all possible. If a question of drug safety arises, a physician or medical center specializing in porphyria should be contact. A list of these institutions may be procured from the American Porphyria Foundation. Pregnancy is tolerated much better than was formerly believed. Many patients have a few reservations about family planning. For those who do, genetic counseling may be useful. Wearing a Medic Alert bracelet is advisable in patients who have had attacks, but is probably not warranted in most latent cases. Therapies: Investigational New treatments for several types of porphyria are under investigation. For the most updated information on research, please contact the organizations listed in the Resources section. Dr. Anderson at the University of Texas Medical Branch, Department of Preventive Medicine, Route J09, Galveston, TX 7550 has received a grant from the FDA for investigation of the orphan drug Erythropoietin in the treatment of Porphyria Cutanea Tarda in patients on long-term hemodialysis. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Porphyria Cutanea Tarda, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 Porphyria Support Group 4 Eve Road Leytonstone, London, England E11 3JE Tel: 01-519-7868 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-2344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation brochure, "Common Questions About Porphyria." Porphyria Cutanea Tarda Red+( .(pagetitle 321: Porphyria Cutanea Tarda 04127.TXT 9i9Copyright (C) 1987, 1988, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 318: Porphyria, Acute Intermittent _________________________ ** IMPORTANT ** It is possible the main title of the article (Acute Intermittent Porphyria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Porphyria AIP General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Acute Intermittent Porphyria (AIP) is one of a group of hereditary hepatic Porphyrias. It is inherited as an autosomal dominant trait. The deficient enzyme is porphobilinogen deaminase (PBG-D), also known as uroporphyrinogen I-synthase. This enzyme deficiency by itself is not sufficient to produce symptoms of the disease. Other factors must also be present such as hormones, drugs and dietary changes which trigger the appearance of symptoms. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of Porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. In the hepatic types of Porphyria porphyrins and related substances originate in excess amounts from the liver, and mostly from the bone marrow in the erythropoietic types. The Porphyrias with skin manifestations are sometimes called "cutaneous Porphyrias." The "acute Porphyrias" are characterized by sudden attacks of pain and other neurological symptoms. These "acute" symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of Porphyria. The symptoms and treatments of the different types of Porphyrias are not the same. For more information on the other types of Porphyrias, choose "Porphyria" as your search term in the Rare Disease Database or see the "Related Disorders" section of this report. Symptoms The symptoms of Acute Intermittent Porphyria generally arise from effects on the central nervous system and/or the skin. Sometimes, the cause of the nervous system dysfunctions are not clear, and proper diagnosis is often delayed. Skin manifestations can include burning, blistering and scarring of sun-exposed areas after even minimal exposure to the sun. Porphyria Cutanea Tarda is the only type of Porphyria that can be either acquired or inherited. All other types of Porphyria are caused by genetic factors. Environmental factors, such as drugs, chemicals, diet and sun exposure can, depending on the type of the disorder, greatly influence the severity of symptoms. "The terms "porphyrin" and "porphyria" are derived from the Greek word "Porphyrus," meaning purple. Urine from some Porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances, and the urine may darken after being exposed to the light. Many individuals who inherit the gene for Acute Intermittent Porphyria never develop symptoms. In those who do display symptoms, the disease may become manifest after puberty, and more commonly does so in women than in men. Abdominal pain, which can be severe, is the most common symptom. Other symptoms may include nausea, vomiting, constipation, and pain in the back, arms and legs. Muscle weakness, rapid heart rate, increased blood pressure, confusion, and hallucinations or seizures may also be present. Sometimes the level of salt (sodium chloride) in the blood decreases markedly during attacks and contributes to some of these symptoms. Because Acute Intermittent Porphyria (AIP) can mimic a host of other more common conditions, its presence is often not suspected. On the other hand, the diagnosis of this and other types of Porphyria is sometimes made incorrectly in patients who do not have the disease, particularly if improper laboratory tests are carried out. The finding of increased levels of delta-aminolevulinic acid (ALA) in urine establishes that one of the "acute" Porphyrias is present. If PBG-deaminase is deficient (approximately one-half normal) in red blood cells, then the diagnosis of AIP is established. However, the latter test should not be relied upon by itself to exclude AIP in a patient, because the result can be falsely normal or equivocal in some AIP patients. The red blood cell test can be extremely useful in identifying other family members who have inherited AIP. It should also be remembered that AIP patients can develop other illnesses, and symptoms may not always be due to porphyria. When a patient is diagnosed as having Acute Intermittent Porphyria, relatives should be examined as well. Latent cases so identified can then avoid agents known to cause attacks of AIP. Causes The inherited Porphyrias are either autosomal dominant or autosomal recessive. Acute Intermittent Porphyria is inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Environmental factors that may precipitate an attack of AIP include certain drugs, chemicals, diet and sun exposure. Depending on the type of porphyria, these factors can greatly influence the severity of symptoms. Because all porphyrias are uncommon, it is very unlikely that more than one type will occur in the same family, or that someone with one type of porphyria will go on to develop another. Affected Population Acute Intermittent Porphyria with symptoms is estimated to affect less than one per one hundred thousand persons. It occurs most frequently in people of Scandinavian, Anglo-Saxon, or German ancestry. It is extremely rare in blacks. Young or middle-aged adult women are more frequently affected than males. Related Disorders The Porphyrias are a group of related disorders. For more information on each of the following types of the disease, choose "porphyria" as your search term in the Rare Disease Database. ALA-D Porphyria is a hereditary inborn error of metabolism which is usually asymptomatic (latent). It may be provoked into active disease by administration of certain drugs, notably barbiturates, sulfonamides, and estrogen compounds. Congenital Erythropoietic Porphyria (CEP) is a hereditary inborn error of metabolism that is first manifested in infancy. Faulty conversion of PBG to uroporphyrinogen in erythroid cells of the bone marrow and red blood cells, leads to this type of Porphyria. Increased porphyrins also may be formed in plasma, urine and feces. Porphyrins are also deposited in the teeth and bones. Porphyria Cutanea Tarda (PCT) can be either an acquired or inherited type of Porphyria. It may become acute as a consequence of chronic alcoholism, barbiturates or other chemicals, cirrhosis of the liver, or a liver (hepatic) tumor. It may also stem from a nutritional disorder. Hereditary Coproporphyria (HCP) is a latent type of inherited Porphyria with attacks usually precipitated by exposure to drugs such as barbiturates, tranquilizers, anticonvulsants, or estrogens. Variegate Porphyria (VP) is a hereditary type of Porphyria due to an inborn error of metabolism. Precipitating or aggravating factors causing symptoms may include exposure to barbiturates, sulfonamides, general anesthetics, excessive amounts of ethanol, or estrogens. Erythropoietic Protoporphyria (EPP) is a hereditary type of Porphyria marked by an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes the liver. Excess protoporphyrin is excreted by the liver into the bile, which in turn enters the intestine and is excreted in the feces. There are no urinary abnormalities in this type of Porphyria. The diagnosis is established by finding increased protoporphyrin in red blood cells, plasma and feces. Therapies: Standard The orphan drug Hematin (an intravenous drug) is very potent in suppressing acute attacks of Acute Intermittent Porphyria. It is usually given after a trial of glucose therapy. Attention should be given to salt and water balance during treatment with this drug. Many types of drugs such as aspirin and certain antibiotics are believed to be safe in patients with some types of Porphyria. Recommendations about drugs for certain types of Porphyrias are based on experience with the patient in whom attacks have been caused by drugs, and by tests in animals. Since many commonly used drugs have not been tested for their affects on Porphyria, they should be avoided if at all possible. If a question of drug safety arises, a physician or medical center specializing in Porphyria should be contacted. A list of these institutions may be procured from the American Porphyria Foundation. (see "Resources" section of this report). AIP is particularly dangerous if the proper diagnosis has not been made, and if drugs which aggravate this disorder are administered. The prognosis is usually good if the disease is recognized before severe nerve damage has occurred and if treatment and preventive measures are begun. Although symptoms usually resolve after an attack, some patients may develop chronic pain. Nerve damage and associated muscle weakness can improve over a period of months after a severe attack. Mental symptoms may occur during attacks, but are usually not chronic. If the patient is taking drugs (including barbiturates, sulfonamides, tranquilizers or sedatives, antiseizure drugs, birth control pills or alcohol, etc.), they should be stopped under a physician's supervision. Attacks of AIP are often precipitated by low intake of carbohydrates in an attempt to lose weight, thus dietary counseling can be very important. Premenstrual attacks often resolve quickly with the onset of menstruation; hormone manipulations may prevent occurrences of such attacks. Acute Intermittent Porphyria patients prone to attacks should eat a normal or high carbohydrate diet and should not greatly restrict their intake of carbohydrates and calories, even for short periods of time. If weight loss is desired, it is advisable to consult a physician who may then request that a dietitian be consulted. Pregnancy is tolerated much better in women with AIP than was formerly believed. Offspring have a fifty percent chance of inheriting the gene for AIP, but the great majority of those that do remain "latent" for all or most of their lives. If diagnosed early, the minority that eventually have symptoms will usually benefit from treatment. Given these considerations, most patients or individuals with "latent" Porphyria usually have few reservations about family planning. For those who do, genetic counseling may be useful. Wearing a Medic Alert bracelet is advisable in patients who have had AIP attacks. Therapies: Investigational New treatments for several types of porphyria are under investigation. For the most updated information on research, please contact the organizations listed in the Resources section. Dr. Karl E. Anderson of the University of Texas Medical Branch, Galveston, TX, 77550, has received orphan drug designation for Histrelin, a drug to treat various types of Porphyria. Research is underway on the Finnish product Normasang (heme arginate). Dr. Karl Anderson of The University of Texas Medical Branch will be directing clinical studies in the United States. Patients are needed to participate in this research. People interested in this study should have their physician contact: Dr. Karl Anderson Ewing Hall (J-09) University of Texas Medical Branch 700 Strand St. Galveston, TX 77555 (409) 772-4661 Researchers at the Mt. Sinai School of Medicine are developing a genetic test to help identify AIP patients. The group needs blood samples from AIP patients to help diagnose different genetic lesions. Anyone wishing to participate in the research may contact: Dr. Cecilia Warner Division of Medical and Molecular Genetics Mt. Sinai School of Medicine 100th St. and Fifth Ave. New York, NY 10029 (212) 241-7037 This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Acute Intermittent Porphyria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 Porphyria Support Group 4 Eve Road Leytonstone, London, England E11 3JE Tel: 01-519-7868 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation Brochure, "Common Questions Asked About Porphyria." Porphyria, Acute Intermittent :pagetitle 318: Porphyria, Acute Intermittent 04128.TXT 5Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 320: Porphyria, ALA-D _________________________ ** IMPORTANT ** It is possible the main title of the article (ALA-D Porphyria) may not be the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Porphyria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. ALA-D porphyria, a recently described form of acute porphyria, is inherited as an autosomal recessive trait and seems to be extremely rare. This form of porphyria is one of the "hepatic" porphyrias. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These "acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same. For more information on the other types of porphyria, choose "porphyria" as your search term in the Rare Disease Database. Symptoms ALA-D porphyria is a recently-described form of acute porphyria whose symptoms are very similar to those of Acute Intermittent Porphyria (AIP). This is a deficiency of the enzyme delta-aminolevulinic acid dehydratase (ALA-D) and there is increased excretion of ALA in the urine of patients with this type of porphyria. Symptoms of ALA-D Porphyria generally arise from effects on the nervous system and/or the skin. Sometimes, the cause of the nervous system symptoms is not clear, and proper diagnosis is delayed. Skin manifestations can include burning, blistering and scarring of sun-exposed areas. Porphyria Cutanea Tarda is the only type of porphyria that can be either acquired or inherited. All other types of Porphyria are caused by genetic factors. Environmental factors such as drugs, chemicals, diet and sun exposure can, depending on the type of the disorder, greatly influence the severity of symptoms. The terms "porphyrin" and "porphyria" are derived from the Greek word "porphyrus," meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances, and the urine may darken after being exposed to the light. Many individuals who inherit the gene for ALA-D porphyria never develop symptoms. In those who do display symptoms, the disease may become manifest after puberty, and more commonly does so in women than in men. Abdominal pain, which can be severe, is the most common symptom. Other characteristics may include nausea, vomiting, constipation, and pain in the back, arms and legs; muscle weakness, rapid heart rate, increased blood pressure, confusion, hallucinations or seizures may also be present. Sometimes the level of salt (sodium chloride) in the blood decreases markedly during attacks and contributes to some of these symptoms. Because this disease can mimic a host of other more common conditions, its presence is often not suspected. On the other hand, the diagnosis of this and other types of porphyria is sometimes made incorrectly in patients who do not have porphyria, particularly if improper laboratory tests are carried out. The finding of increased levels of delta-aminolevulinic acid (ALA) in urine establishes that one of the "acute" porphyrias is present. If ALA-D is deficient (approximately one-half normal) in red blood cells, then the diagnosis of ALA-D is established. However, the latter test should not be relied upon by itself to exclude ALA-D in a patient, because the result can be falsely normal or equivocal in some ALA-D patients. The red blood cell test can be extremely useful in identifying other family members who have inherited ALA-D. It should also be remembered that ALA-D patients can develop other illnesses, and symptoms may not always be due to porphyria. When a patient is diagnosed as having ALA-D, relatives should be examined as well. Latent cases so identified can then avoid agents known to cause attacks. Causes ALA-D porphyria is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Environmental factors that can precipitate attacks of ALA-D porphyria may include drugs, chemicals, diet and sun exposure. Depending on the type of porphyria, these factors can greatly influence the severity of symptoms. Because all porphyrias are uncommon, it is very unlikely that more than one type will occur in the same family, or that someone with one type of porphyria will go on to develop another. Affected Population ALA-D Porphyria affects a very small segment of the world population. Less than one per one hundred thousand cases occurs, usually in people of Scandinavian, Anglo-Saxon, or German ancestry. It is extremely rare in blacks. Young or middle-aged adult women are more frequently affected. Related Disorders The Porphyrias are a group of related disorders. For more information on each of the following types of the disease, choose "porphyria" as your search term in the Rare Disease Database. Acute Intermittent Porphyria is a hereditary, usually asymptomatic disorder (latent). It may be provoked into active disease by the administration of certain drugs, notably barbiturates, sulfonamides, and estrogenic compounds. Congenital Erythropoietic Porphyria (CEP) is a hereditary disorder due to an inborn error of metabolism, and manifested in infancy. Faulty conversion of the enzyme PBG to uroporphyrinogen in erythroid cells of bone marrow, and red blood cells leads to of this type of Porphyria. Increased porphyrins also may be found in plasma, urine, feces, teeth and bones. Porphyria Cutanea Tarda (PCT) can be either an acquired or inherited type of Porphyria. It may become acute due to exposure to chronic alcoholism, barbiturates or other chemicals, cirrhosis of the liver, or a hepatic tumor. It may also stem from a nutritional disorder. Hereditary Coproporphyria (HCP) is a latent type of Porphyria with attacks usually precipitated by exposure to drugs such as barbiturates, tranquilizers, anticonvulsants, and estrogens. Variegate Porphyria (VP) is a hereditary type of Porphyria due to an inborn error of metabolism. Precipitating or aggravating factors may include exposure to barbiturates, sulfonamides, general anesthetics, excessive amounts of ethanol, and estrogens. Erythropoietic Protoporphyria (EPP) is a hereditary type of Porphyria marked by an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes the liver. Excess protoporphyrin is excreted by the liver into the bile, which in turn enters the intestine and is excreted in the feces. There are no urinary abnormalities. The diagnosis is established by finding increased protoporphyrin in red blood cells, plasma and feces. Therapies: Standard ALA-D Porphyria should be treated much the same as Acute Intermittent Porphyria (AIP). The orphan drug Hematin (an intravenous drug) is very potent in suppressing acute attacks of the disease. It is usually given only after a trial of glucose therapy. Attention should be given to salt and water balance during treatment. Many types of drugs such as aspirin and certain antibiotics are believed to be safe in patients with some types of porphyria. Recommendations about drugs for certain types of the disorder are based on experience with the porphyria patients in whom attacks have been caused by drugs and by tests in animals. Since many commonly used drugs have not been tested, they should be avoided if at all possible. If a question of drug safety arises, a physician or medical center specializing in porphyria should be contacted. A list of these institutions may be procured from the American Porphyria Foundation (see Resources). ALA-D Porphyria is particularly dangerous if the proper diagnosis has not been made, and if drugs which aggravate this disorder are administered. The prognosis is usually good if the disease is recognized before severe nerve damage has occurred and if treatment and preventive measures are begun. Although symptoms usually resolve after an attack, some patients may develop chronic pain. Nerve damage and associated muscle weakness can improve over a period of months after a severe attack. Mental symptoms may occur during attacks, but are usually not chronic. If the patient is taking drugs, (including barbiturates, sulfonamides, tranquilizers or sedatives, antiseizure drugs, birth control pills or alcohol, etc.), they should be stopped under a physician's supervision. Attacks are often precipitated by low intake of carbohydrates in an attempt to lose weight, thus dietary counseling can be very important. Premenstrual attacks often resolve quickly with the onset of menstruation; hormone manipulations may prevent occurrences of such attacks. ALA-D patients prone to attacks should eat a normal or high carbohydrate diet and should not greatly restrict their intake of carbohydrates and calories, even for short periods of time. If weight loss is desired, it is advisable to consult a physician who may then request that a dietitian estimate an individual's normal caloric intake (this varies greatly from one person to another). Then it may be appropriate to prescribe a diet which is approximately ten percent below the normal level of calories for the patient. This usually will not cause an attack of porphyria. Pregnancy is tolerated much better than was formerly believed. Offspring have a fifty percent chance of inheriting the gene for ALA-D, but the great majority of those that will remain "latent" for all or most of their life times. If diagnosed early, the minority that eventually have symptoms will usually benefit from treatment. Given these considerations, most patients or individuals with "latent" porphyria usually have few reservations about family planning. For those who do, genetic counseling may be indicated. Wearing a Medic Alert bracelet is advisable in patients who have had attacks, but is probably not warranted in most latent cases. Therapies: Investigational New treatments for several types of porphyria are under investigation. For the most updated information on research, please contact the organizations listed in the Resources section. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on ALA-D Porphyria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 Porphyria Support Group 4 Eve Road Leytonstone, London, England England Tel: 01-519-7868 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-2344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation brochure, "Common Questions About Porphyria." Porphyria, ALA-D 6pagetitle 320: Porphyria, ALA-D 04129.TXT 'Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 319: Porphyria, Congenital Erythropoietic _________________________ ** IMPORTANT ** It is possible the main title of the article (Congenital Erythropoietic Porphyria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Congenital Porphyria Guenther Porphyria CEP General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Erythropoietic Porphyria (CEP) is extremely rare and is inherited through an autosomal recessive trait. It is also known as Guenther Porphyria. The deficient enzyme is uroporphyrinogen III cosynthase. As is characteristic of the erythropoietic porphyrias, symptoms usually begin during infancy. CEP is manifested by markedly increased levels of porphyrins in bone marrow, red blood cells, plasma, urine and feces. Porphyrins are also deposited in the teeth and bones. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are those characterized by sudden attacks of pain and other neurological manifestations. These "acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same. For more information on the other types of porphyria, choose "porphyria" as your search term in the Rare Disease Database. Symptoms Skin photosensitivity, a symptom of Congenital Erythropoietic Porphyria, may be extreme and lead to blistering, severe scarring and increased hair growth. Bacteria may infect the damaged skin. Facial features and fingers may be lost through this process over time. Red blood cells have a shortened life-span, and anemia often results. Synthesis of heme and hemoglobin, substances important to many body functions that are found in the bone marrow, red blood cells and the liver, is actually increased to compensate for the shortened red blood cell survival. The symptoms of porphyria generally arise from effects on the nervous system and/or the skin. Sometimes, the effects on the nervous system are not clear, and proper diagnosis is delayed. Skin manifestations can include burning, blistering and scarring of sun-exposed areas. Porphyria Cutanea Tarda is the only type of porphyria that can be either acquired or inherited. All other types of porphyria are caused by genetic factors. Environmental factors, such as drugs, chemicals, diet and sun exposure can, depending on the type of porphyria, greatly influence the severity of symptoms. The terms "porphyrin" and "porphyria" are derived from the Greek word "porphyrus," meaning purple. Urine from some Porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances, and the urine may darken after being exposed to the light. Causes Congenital Erythropoietic Porphyria (CEP) is a hereditary non-x-linked trait disorder. A faulty conversion of PBG to uroporphyrinogen in the erythroid cells of the bone marrow is the basic inborn metabolic error. Environmental factors that may aggravate the symptoms include drugs, chemicals, diet, and sun exposure. Depending on the type of porphyria, these factors can greatly influence the severity of symptoms. Because all porphyrias are uncommon, it is very unlikely that more than one type will occur in the same family, or that someone with one type of porphyria will go on to develop another. Affected Population The onset of Congenital Erythropoietic Porphyria is in early infancy and is primarily a rare childhood form of porphyria. It affects males and females in equal numbers. Related Disorders The Porphyrias are a group of related disorders. For more information on each of the following types of the disease, choose "porphyria" as your search term in the Rare Disease Database. ALA-D Porphyria is a recently-described form of acute porphyria inherited as an autosomal recessive trait. It is apparently extremely rare. There is a deficiency of the enzyme delta-aminolevulinic acid dehydratase (ALA-D) and increased excretion of ALA in the urine of patients with this type of porphyria. Acute Intermittent Porphyria is a hereditary dominant disorder. A latent form of porphyria, it may possibly be provoked into active disease by the administration of certain drugs, notably barbiturates, sulfonamides, and estrogen compounds. Porphyria Cutanea Tarda (PCT) can be either an acquired or inherited type of Porphyria. It may become acute due to exposure to chronic alcohol intake, barbiturates or other chemicals, cirrhosis of the liver, or a hepatic tumor. It may also stem from a nutritional disorder. Hereditary Coproporphyria (HCP) is a latent type of Porphyria similar to Acute Intermittent Porphyria, although usually less severe. This disorder is due to an enzyme deficiency. Some patients may develop skin photosensitivity. Attacks are usually precipitated by exposure to drugs such as barbiturates, tranquilizers, anticonvulsants, and estrogens. Precautions and treatment for acute attacks are as described for AIP. Variegate Porphyria (VP) is a hereditary type of Porphyria due to an inborn error of metabolism. Precipitating or aggravating factors may include exposure to barbiturates, sulfonamides, general anesthetics, excessive amounts of ethanol, and estrogens. Erythropoietic Protoporphyria (EPP) is a hereditary type of Porphyria marked by an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes the liver. Excess protoporphyrin is excreted by the liver into the bile, which in turn enters the intestine and is excreted in the feces. There are no urinary abnormalities. The diagnosis is established by finding increased protoporphyrin in red blood cells, plasma and feces. Therapies: Standard The orphan drug Hematin (an intravenous drug) is very potent in suppressing acute attacks of the Congenital Erythropoietic Porphyria. It is usually given only after a trial of glucose therapy. Attention should be given to salt and water balance during treatment. Many types of drugs such as aspirin and certain antibiotics are believed to be safe in patients with some types of porphyria. Recommendations about drugs for certain types of the disorder are based on experience with the porphyria patients in whom attacks have been caused by drugs and by tests in animals. Since many commonly used drugs have not been tested, they should be avoided if at all possible. If a question of drug safety arises, a physician or medical center specializing in porphyria should be contacted. A list of these institutions may be procured from the American Porphyria Foundation (see Resources). Pregnancy is tolerated much better than was formerly believed. Many patients have a few reservations about family planning. For those who do, genetic counseling may be useful. Wearing a Medic Alert bracelet is advisable in patients who have had attacks, but it is probably not warranted in most latent cases. Therapies: Investigational New treatments for several types of porphyria are under investigation. For the most updated information on research, please contact the organizations listed in the Resources section. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Erythropoietic Porphyria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 Porphyria Support Group 4 Eve Road Leytonstone, London, England E11 3JE Tel: 01-519-7868 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation brochure, "Common Questions About Porphyria." Porphyria, Congenital Erythropoietic3( 6(pagetitle 319: Porphyria, Congenital Erythropoietic 04130.TXT *Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 322: Porphyria, Erythropoietic Protoporphyria _________________________ ** IMPORTANT ** It is possible the main title of the article (Erythropoietic Protoporphyria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Porphyria EPP General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Erythropoietic Protoporphyria (EPP) is inherited as an autosomal dominant trait and is primarily a bone marrow disorder. Ferrochelatase is the deficient enzyme, and there is an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes in the liver. Excess protoporphyrin is excreted by the liver into the bile, which in turn enters the intestine and is excreted in the feces. There are no urinary abnormalities. The diagnosis is established by finding increased protoporphyrin in the red blood cells, plasma and feces. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These "acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same. For more information on the other types of porphyria, choose "porphyria" as your search term in the Rare Disease Database. Symptoms In Erythropoietic Protoporphyria, swelling, burning, itching, and redness of the skin may appear during or immediately after exposure to sunlight, including sunlight through window glass. Usually, these symptoms subside in 12 to 24 hours and heal without significant scarring or discoloration of the skin. Occasionally, the skin problems occur only after extended sunlight exposure. The skin lesions may progress to a chronic stage persisting for weeks and healing with a superficial scar. However, blistering and scarring is less common than in other types of "cutaneous" porphyria. Skin manifestations generally begin during childhood. They are more severe in the summer and can recur throughout life. Other manifestations may include gallstones containing protoporphyrin, and occasionally, severe liver complications. The symptoms of porphyria generally arise from effects on the nervous system and/or the skin. Sometimes, the cause of the nervous system symptoms is not clear, and proper diagnosis is delayed. Skin manifestations can include burning, blistering and scarring of sun-exposed areas. Porphyria Cutanea Tarda is the only type of porphyria that can be either acquired or inherited. All other types of Porphyria are caused by genetic factors. Environmental factors such as drugs, chemicals, diet and sun exposure can, depending on the type of the disorder, greatly influence the severity of symptoms. The terms "porphyrin" and "porphyria" are derived from the Greek word "porphyrus," meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances, and the urine may darken after being exposed to the light. Causes Erythropoietic Protoporphyria involves an inborn error of metabolism inherited as a dominant trait. (In autosomal dominant disorders, a single abnormal gene, contributed by either parent, "overrides" the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a 50% chance of inheriting the disorder. Males and females will be affected in equal numbers.) Environmental factors may include drugs, chemicals, diet and sun exposure. Depending on the type of porphyria, these factors can greatly influence the severity of symptoms. Affected Population Erythropoietic Protoporphyria usually begins in childhood. The intensity of symptoms may increase in summer and fall. This disorder may affect males and females in equal numbers. Related Disorders The Porphyrias are a group of related disorders. For more information on each of the following types of the disease, choose "porphyria" as your search term in the Rare Disease Database. ALA-D Porphyria is a recently-described form of acute porphyria inherited as an autosomal recessive trait. It is apparently extremely rare. There is a deficiency of the enzyme delta-aminolevulinic acid dehydratase (ALA-D) and increased excretion of ALA in the urine of patients with this type of porphyria. Acute Intermittent Porphyria is a hereditary, possibly metabolic, usually asymptomatic disorder (latent). It may possibly be provoked into active disease by the administration of certain drugs, notably barbiturates, sulfonamides, and estrogenic compounds. Congenital Erythropoietic Porphyria (CEP) is a hereditary disorder due to an inborn error of metabolism, and manifested in infancy. Faulty conversion of the enzyme PBG to uroporphyrinogen in erythroid cells of bone marrow, red blood cells, plasma, urine and feces leads to this type of Porphyria. Increased porphyrins also may be found in plasma, urine, feces, teeth and bones. Porphyria Cutanea Tarda (PCT) can be either an acquired or inherited type of Porphyria. It may become acute due to exposure to chronic alcoholism, barbiturates or other chemicals, cirrhosis of the liver, or a hepatic tumor. It may also stem from a nutritional disorder. Hereditary Coproporphyria (HCP) is a latent type of Porphyria with attacks usually precipitated by exposure to drugs such as barbiturates, tranquilizers, anticonvulsants, and estrogens. Variegate Porphyria (VP) is a hereditary type of Porphyria due to an inborn error of metabolism. Precipitating or aggravating factors may include exposure to barbiturates, sulfonamides, general anesthetics, excessive amounts of ethanol, and estrogens. Therapies: Standard Treatment for Erythropoietic Protoporphyria (EPP) with the orphan drug Beta Carotene often improves sunlight tolerance, but does not lower porphyrin levels. Cholestyramine may lower porphyrin levels in some patients. Some carriers of the gene for this disease have no symptoms, and may occasionally have normal porphyrin levels. Patients with EPP may develop liver abnormalities, due to excess deposits of protoporphyrin in that organ. Total avoidance of certain drugs including barbiturates, sulfonamides, and estrogen compounds is suggested. It is important to note that a patient with EPP never develops any other types of porphyria, although some treatments may be similar. Avoidance of alcohol is also strongly suggested as alcohol seems to increase severity of photosensitivity in this disorder. The orphan drug Hematin (an intravenous drug) is very potent in suppressing acute attacks of the disease. It is usually given only after a trial of glucose therapy. Attention should be given to salt and water balance during treatment. Many types of drugs such as aspirin and certain antibiotics are believed to be safe in patients with some types of porphyria. Recommendations about drugs for certain types of the disorder are based on experience with the porphyria patients in whom attacks have been caused by drugs and by tests in animals. Since many commonly used drugs have not been tested, they should be avoided if at all possible. If a question of drug safety arises, a physician or medical center specializing in porphyria should be contacted. A list of these institutions may be procured from the American Porphyria Foundation (see Resources). Pregnancy is tolerated much better than was formerly believed. Many patients have a few reservations about family planning. For those who do, genetic counseling may be useful. Wearing a Medic Alert bracelet is advisable in patients who have had attacks, but is probably not warranted in most latent cases. Therapies: Investigational New treatments for several types of porphyria are under investigation. For the most updated information on research, please contact the organizations listed in the Resources section. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Erythropoietic Protoporphyria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 Porphyria Support Group 4 Eve Road Leytonstone, London, England E11 3JE Tel: 01-519-7868 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-2344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation brochure, "Common Questions About Porphyria." Porphyria, Erythropoietic Protoporphyria7+ :+pagetitle 322: Porphyria, Erythropoietic Protoporphyria 04131.TXT ,Copyright (C) 1987, 1988, 1990, 1991, 1993 National Organization for Rare Disorders, Inc. 323: Porphyria, Hereditary Coproporphyria _________________________ ** IMPORTANT ** It is possible the main title of the article (Hereditary Coproporphyria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Porphyria Porphyria Hepatica HCP General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hereditary Coproporphyria is an autosomal dominant form of hepatic porphyria that is very similar to Acute Intermittent Porphyria, although it is usually a less severe disease. It is caused by an enzyme deficiency. Some patients develop skin photosensitivity, and must avoid sunlight. The diagnosis is established by finding excess coproporphyrin in urine and stool (other types of porphyrins show little or no increase). Urinary ALA and PBG are increased during acute attacks, but may become normal on recovery. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These "acute" symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same. For more information on the other types of porphyria, choose "porphyria" as your search term in the Rare Disease Database. Symptoms The large amount of coproporphyrin present in Hereditary Coproporphyria (HCP) makes the patient sensitive to sunlight, but skin disease is rarely severe in this type or porphyria. Clinically, it resembles variegate porphyria and acute intermittent porphyria. Symptoms may include abdominal pain, arm and/or leg pain, generalized weakness, vomiting, confusion, constipation, increased heart rate, fluctuating blood pressure, urinary retention, psychosis, hallucinations, and seizures. The muscle weakness may progress to respiratory paralysis, necessitating artificial respiration. The symptoms of porphyria generally arise from effects on the nervous system and/or the skin. Sometimes, the cause of the nervous system symptoms is not clear, and proper diagnosis is delayed. Skin manifestations can include burning, blistering and scarring of sun-exposed areas. Porphyria Cutanea Tarda is the only type of porphyria that can be either acquired or inherited. All other types of Porphyria are caused by genetic factors. Environmental factors such as drugs, chemicals, diet and sun exposure can, depending on the type of the disorder, greatly influence the severity of symptoms. The terms "porphyrin" and "porphyria" are derived from the Greek word "porphyrus," meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances, and the urine may darken after being exposed to the light. Because this disease can mimic a host of other more common conditions, its presence is often not suspected. On the other hand, the diagnosis of this and other types of porphyria is sometimes made incorrectly in patients who do not have porphyria, particularly if improper laboratory tests are carried out. The finding of increased levels of delta-aminolevulinic acid (ALA) in urine establishes that one of the "acute" porphyrias is present. When a patient is diagnosed as having HCP, relatives should be examined as well. Latent cases so identified can then avoid agents known to cause attacks. Causes Hereditary Coproporphyria is a genetic, non-x-linked disorder inherited as an autosomal dominant trait. (In autosomal dominant disorders, a single abnormal gene, contributed by either parent, "overrides" the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a 50% chance of inheriting the disorder. Males and females will be affected in equal numbers.) Drugs such as barbiturates, tranquilizers, anticonvulsants, and estrogens may precipitate attacks. Environmental factors may include drugs, chemicals, diet and sun exposure. Depending on the type of porphyria, these factors can greatly influence the severity of symptoms. Because all porphyrias are uncommon, it is very unlikely that more than one type will occur in the same family, or that someone with one type of porphyria will go on to develop another. Affected Population Hereditary Coproporphyria may have its onset at any age, and may affect males and females in equal numbers. It is the least common of the "hepatic" porphyrias. Related Disorders The Porphyrias are a group of related disorders. For more information on each of the following types of the disease, choose "porphyria" as your search term in the Rare Disease Database. ALA-D Porphyria is a recently-described form of acute porphyria inherited as an autosomal recessive trait. It is apparently extremely rare. There is a deficiency of the enzyme delta-aminolevulinic acid dehydratase (ALA-D) and increased excretion of ALA in the urine of patients with this type or porphyria. Acute Intermittent Porphyria is a hereditary, possibly metabolic, usually asymptomatic disorder (latent). It may possibly be provoked into active disease by the administration of certain drugs, notably barbiturates, sulfonamides, and estrogenic compounds. Congenital Erythropoietic Porphyria (CEP) is a hereditary disorder due to an inborn error of metabolism, and manifested in infancy. Faulty conversion of the enzyme PBG to uroporphyrinogen in erythroid cells of bone marrow, and red blood cells leads to this type of Porphyria. Increased porphyrins also may be found in plasma, urine, feces, teeth and bones. Porphyria Cutanea Tarda (PCT) can be either an acquired or inherited type of Porphyria. It may become acute due to exposure to chronic alcoholism, barbiturates or other chemicals, cirrhosis of the liver, or a hepatic tumor. It may also stem from a nutritional disorder. Variegate Porphyria (VP) is a hereditary type of Porphyria due to an inborn error of metabolism. Precipitating or aggravating factors may include exposure to barbiturates, sulfonamides, general anesthetics, excessive amounts of ethanol, and estrogens. Erythropoietic Protoporphyria (EPP) is a hereditary type of Porphyria marked by an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes the liver. Excess protoporphyrin is excreted by the liver into the bile, which in turn enters the intestine and is excreted in the feces. There are no urinary abnormalities. The diagnosis is established by finding increased protoporphyrin in red blood cells, plasma and feces. Therapies: Standard The orphan drug Hematin (an intravenous drug) is very potent in suppressing acute attacks of the disease. It is usually given only after a trial of glucose therapy. Attention should be given to salt and water balance during treatment. Many types of drugs such as aspirin and certain antibiotics are believed to be safe in patients with some types of porphyria. Recommendations about drugs for certain types of the disorder are based on experience with the porphyria patients in whom attacks have been caused by drugs and by tests in animals. Since many commonly used drugs have not been tested, they should be avoided if at all possible. If a question of drug safety arises, a physician or medical center specializing in porphyria should be contacted. A list of these institutions may be procured from the American Porphyria Foundation (see Resources). Pregnancy is tolerated much better than was formerly believed. Many patients have a few reservations about family planning. For those who do, genetic counseling may be useful. Wearing a Medic Alert bracelet is advisable in patients who have had attacks, but is probably not warranted in most latent cases. Therapies: Investigational New treatments for several types of porphyria are under investigation. For the most updated information on research, please contact the organizations listed in the Resources section. Dr. Karl E. Anderson of the University of Texas Medical Branch, Galveston, TX, 77550, has received orphan drug designation for Histrelin, a drug to treat various types of Porphyria. Research is underway on the Finnish product Normasang (heme arginate). Dr. Karl Anderson of The University of Texas Medical Branch will be directing clinical studies in the United States. Patients are needed to participate in this research. People interested in this study should have their physician contact: Dr. Karl Anderson Ewing Hall (J-09) University of Texas Medical Branch 700 Strand St. Galveston, TX 77555 (409) 772-4661 This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hereditary Coproporphyria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 Porphyria Support Group 4 Eve Road Leytonstone, London, England E11 3JE Tel: 01-519-7868 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-2344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation brochure, "Common Questions About Porphyria." Porphyria, Hereditary Coproporphyria -pagetitle 323: Porphyria, Hereditary Coproporphyria 04132.TXT `-I-Copyright (C) 1987, 1988, 1990, 1991, 1993 National Organization for Rare Disorders, Inc. 324: Porphyria, Variegate _________________________ ** IMPORTANT ** It is possible the main title of the article (Variegate Porphyria) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Porphyria VP Porphyria Cutanea Tarda Hereditaria Mixed Hepatic Porphyria South African Genetic Porphyria Porphyria Hepatica General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Variegate Porphyria (VP), a form of hepatic porphyria, is most common in the South African white population and is much less frequent elsewhere. It is an autosomal dominant disorder and may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity. This form of porphyria is also due to an enzyme deficiency. The diagnosis may be made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces. In patients with photosensitive skin changes alone, it is important to distinguish Variegate Porphyria or hereditary coproporphyria (HCP) from porphyria cutanea tarda (PCT), because treatment by phlebotomy or low-dose chloroquine is not successful in VP and HCP. Acute attacks are managed and may be prevented as in AIP. The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has. Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types. The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These "acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same. For more information on the other types of porphyria, choose "porphyria" as your search term in the Rare Disease Database. Symptoms Variegate Porphyria shows no symptoms during the latent phase of the disorder. During an acute attack, a patient may experience abdominal colic, severe vomiting, or sweating. The symptoms of porphyria generally arise from effects on the nervous system and/or the skin. Sometimes, the cause of the nervous system symptoms is not clear, and proper diagnosis is delayed. Skin manifestations can include burning, blistering and scarring of sun-exposed areas. Porphyria Cutanea Tarda is the only type of porphyria that can be either acquired or inherited. All other types of Porphyria are caused by genetic factors. Environmental factors such as drugs, chemicals, diet and sun exposure can, depending on the type of the disorder, greatly influence the severity of symptoms. The terms "porphyrin" and "porphyria" are derived from the Greek word "porphyrus," meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances, and the urine may darken after being exposed to the light. Because this disease can mimic a host of other more common conditions, its presence is often not suspected. On the other hand, the diagnosis of this and other types of porphyria is sometimes made incorrectly in patients who do not have porphyria, particularly if improper laboratory tests are carried out. The finding of increased levels of delta-aminolevulinic acid (ALA) in urine establishes that one of the "acute" porphyrias is present. When a patient is diagnosed as having VP, relatives should be examined as well. Latent cases so identified can then avoid agents known to cause attacks. Causes Variegate Porphyria (VP) is a hereditary, non-x-linked dominant disorder, due to an inborn metabolic error (a deficiency of protoporphyrinogen oxidase). Precipitating factors may include exposure to barbiturates, sulfonamides, general anesthetics, excessive amounts of alcohol, and/or estrogens. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Environmental factors that can precipitate attacks of Variegate Porphyria may include drugs, chemicals, diet and sun exposure. Depending on the type of porphyria, these factors can greatly influence the severity of symptoms. Affected Population Variegate Porphyria (VP) may begin between the ages of ten to thirty years. It is particularly common in the white population of South Africa, and may affect males and females in equal numbers. Related Disorders The Porphyrias are a group of related disorders. For more information on each of the following types of the disease, choose "porphyria" as your search term in the Rare Disease Database. ALA-D Porphyria is a recently described form of acute porphyria inherited as an autosomal recessive trait. It is apparently extremely rare. There is a deficiency of the enzyme delta-aminolevulinic acid dehydratase (ALA-D) and increased excretion of ALA in the urine of patients with this form of porphyria. Acute Intermittent Porphyria is a hereditary, possibly metabolic, usually asymptomatic disorder (latent). It may possibly be provoked into active disease by the administration of certain drugs, notably barbiturates, sulfonamides, and estrogenic compounds. Congenital Erythropoietic Porphyria (CEP) is a hereditary disorder due to an inborn error of metabolism, and manifested in infancy. Faulty conversion of the enzyme PBG to uroporphyrinogen in erythroid cells of bone marrow, and red blood cells leads to of this type of Porphyria. Increased porphyrins also may be found in plasma, urine and feces. Porphyrins are also deposited in the teeth and bones. Porphyria Cutanea Tarda (PCT) can be either an acquired or inherited type of Porphyria. It may become acute due to exposure to chronic alcoholism, barbiturates or other chemicals, cirrhosis of the liver, or a hepatic tumor. It may also stem from a nutritional disorder. Hereditary Coproporphyria (HCP) is a latent type of Porphyria with attacks usually precipitated by exposure to drugs such as barbiturates, tranquilizers, anticonvulsants, and estrogens. Erythropoietic Protoporphyria (EPP) is a hereditary type of Porphyria marked by an accumulation of protoporphyrin in the bone marrow, red blood cells and sometimes the liver. Excess protoporphyrin is excreted by the liver into the bile, which in turn enters the intestine and is excreted in the feces. There are no urinary abnormalities. The diagnosis is established by finding increased protoporphyrin in red blood cells, plasma and feces. Therapies: Standard The orphan drug Hematin (an intravenous drug) is very potent in suppressing acute attacks of the disease. It is usually given only after a trial of glucose therapy. Attention should be given to salt and water balance during treatment. Many types of drugs such as aspirin and certain antibiotics are believed to be safe in patients with some types of porphyria. Recommendations about drugs for certain types of the disorder are based on experience with the porphyria patients in whom attacks have been caused by drugs and by tests in animals. Since many commonly used drugs have not been tested, they should be avoided if at all possible. If a question of drug safety arises, a physician or medical center specializing in porphyria should be contacted. A list of these institutions may be procured from the American Porphyria Foundation (see Resources). Pregnancy is tolerated much better than formerly believed. Many patients have a few reservations about family planning. For those who do, genetic counseling may be useful. Wearing a Medic Alert bracelet is advisable in patients who have had attacks, but is probably not warranted in most latent cases. Therapies: Investigational New treatments for several types of porphyria are under investigation. For the most updated information on research, please contact the organizations listed in the Resources section. Dr. Karl E. Anderson of the University of Texas Medical Branch, Galveston, TX, 77550, has received orphan drug designation for Histrelin, a drug to treat various types of Porphyria. Research is underway on the Finnish product Normasang (heme arginate). Dr. Karl Anderson of The University of Texas Medical Branch will be directing clinical studies in the United States. Patients are needed to participate in this research. People interested in this study should have their physician contact: Dr. Karl Anderson Ewing Hall (J-09) University of Texas Medical Branch 700 Strand St. Galveston, TX 77555 (409) 772-4661 This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Variegate Porphyria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Porphyria Foundation P.O. Box 22712 Houston, TX 77227 (713) 266-9617 Porphyria Support Group 4 Eve Road Leytonstone, London, England E11 3JE Tel: 01-519-7868 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-2344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References American Porphyria Foundation brochure, "Common Questions About Porphyria." Porphyria, Variegatec. f.pagetitle 324: Porphyria, Variegate 04133.TXT Copyright (C) 1987, 1989, 1991, 1992 National Organization for Rare Disorders, Inc. 476: Post-Polio Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Post-Polio Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Polio, Late Effects Post-Polio Muscular Atrophy Post-Polio Sequelae Information on the following disorder can be found in the Related Disorders section of this report: Poliomyelitis (Infantile Paralysis) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Post-Polio Syndrome is characterized by a history of Poliomyelitis at least ten years previously, and partial recovery of function followed by development of progressive weakness in previously affected muscles for which there is no other definite cause. Symptoms Post-Polio Syndrome occurs at least 10 years after a person has been stricken by polio. It is characterized by gradual deterioration of muscle function and increased weakness which usually occurs in the limbs that had been most severely affected by polio. Sometimes the disorder involves those muscles apparently fully recovered or previously uninvolved, including muscles necessary for respiration. Other symptoms may include fatigue, muscle pain and twitching (fasciculations). (For more information on this disorder, see "A Fearful Reminder Stalks Polio's Survivors" and "What Is Polio?" in the Prevalent Health Conditions/Concerns area of NORD Services.) Causes The exact cause of Post-Polio syndrome has not yet been identified. Theories that the dormant polio virus may be reactivated years after polio first occurs are now the most popular theories. Other theories that Post-Polio patients appear to be aging more rapidly in certain parts of their central nervous system than their peers are also unproven. Recently, scientists determined that Post-Polio Syndrome is not a form of Amyotrophic Lateral Sclerosis (ALS). (For more information on this disorder, choose ALS as your search term in the Rare Disease Database.) In a 1987 study of Post-Polio Syndrome patients, scientists found evidence that nerve cells in affected muscles may grow many small sprouts from the message-transmitting axons of healthy nerve cells during recovery from polio. These sprouts take over the function of neurons killed by the polio virus. After years of functioning beyond capacity, the nerve cells can weaken and lose the ability to maintain these sprouts, which then begin to shrink, and the whole muscle becomes weaker. As a result of this discovery, researchers hope to develop an experimental treatment that may improve sprouting of the axons. Other studies, such as investigating the presence of abnormal proteins in cerebrospinal fluid, and the effect of the polio virus on nerve cells in muscle fibers of Post-Polio patients. Affected Population Post-Polio Syndrome affects about 20% of people who have recovered from Poliomyelitis more than 10 years previously. Symptoms can appear 30 or more years after onset of Polio. Related Disorders Symptoms of the following disorder are similar to those of Post-Polio Syndrome. Comparisons may be useful for a differential diagnosis: Poliomyelitis (Infantile Paralysis or "Polio") is an acute virus infection most often affecting children. It may occur in individual cases, or in epidemic outbreaks. The disorder is caused by a virus that affects parts of the brain and spinal cord (central nervous system). Muscles no longer receive strong nerve signals telling them how to move. The result is paralysis that can be life threatening when it affects breathing and swallowing. Painful muscle spasms in arms and legs may also occur. Recovery from a serious bout with Polio is slow. Residual effects such as limb and body weakness and paralysis can last a lifetime. The Salk and Sabin vaccines, introduced in the 1950's and 1960's, have virtually eliminated Polio in the United States and have greatly reduced its incidence throughout the world. The Centers for Disease Control (CDC) reported that polio is almost eradicated from the Western Hemisphere. In 1991 there were only nine cases of polio identified in the Americas. Therapies: Standard People who had Polio before the polio vaccine was developed should be evaluated to determine if they have Post-Polio Syndrome. This would include comprehensive muscle testing and gait analysis plus a complete physical examination. Physical therapy, occupational therapy, changes in braces, and/or changes in diet may be helpful. Excess weight is particularly disabling when muscles are weakened. Rehabilitation, rest and medication may also be prescribed. Swimming is the best form of exercise for Post-Polio patients, but other forms of exercise, not exceeding 5 to 20 minutes with rest periods in between, may also be advised by a physician. Use of a respirator such as a mouth intermittent positive pressure ventilation system may be prescribed if breathing is affected. Therapies: Investigational This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Post-Polio Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Post-Polio National, Inc. (Post-Polio League for Information and Outreach) 3581 University Drive Fairfax, VA 22030 (703) 273-8171 Polio Information Center 510 Main Street, Suite A446 Roosevelt Island, NY 10044 (212) 223-0353 British Polio Fellowship Bell Close West End Ruislip, Middlesex HA4 6LP England International Polio Network 5100 Oakland Ave., #206 St. Louis, MO 63110, U.S.A. (314) 534-0475 Centers for Disease Control 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 For rehabilitation services contact: National Easter Seal Society for Crippled Children and Adults 70 East Lake St. Chicago, IL 60601 (312) 726-6200 (voice) (312) 726-4258 (TDD) References MOUTH INTERMITTENT POSITIVE PRESSURE VENTILATION IN THE MANAGEMENT OF POSTPOLIO RESPIRATORY INSUFFICIENCY: J.R. Bach, et al.; Chest (June 1987: issue 91(6)). Pp. 859-864. HANDBOOK OF THE LATE EFFECTS OF POLIOMYELITIS FOR PHYSICIANS AND SURVIVORS: Gini Laurie, et al., ed.; G.I.N.I. 1984. LATE EFFECTS OF POLIOMYELITIS: Lauro Halstead, et al., ed.; Symposia Foundation, 1984. Post-Polio Syndrome pagetitle 476: Post-Polio Syndrome 04134.TXT "Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 494: Posterior Uveitis _________________________ ** IMPORTANT ** It is possible the main title of the article (Posterior Uveitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Choroiditis Information on the following diseases can be found in the Related Disorders section of this report: Anterior Uveitis Pars Planitis Heterochromic Uveitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Posterior Uveitis is a vision disorder characterized by inflammation of the layer of blood vessels underlying the retina, and usually of the retina as well. Major symptoms include blurred vision, distortion of the size or shape of objects (metamorphopsia), and floating black spots in the visual field. The resulting scars may impair clear vision and cause dimness of vision (amblyopia). In many cases, this disorder occurs as a complication of Toxoplasmosis or other infections. In other cases, the cause cannot be determined. Symptoms Posterior Uveitis is marked by inflammation of the entire uveal tract of the eye which includes the iris, ciliary body and choroid. The iris is the circular-colored membrane (surrounding the pupil) forming the anterior one-sixth of the middle coat of the eyeball. The ciliary body is a specialized structure in the eye composed of the ciliary muscles and processes, and connecting the anterior part of the choroid to the circumference of the iris. The choroid is the middle pigmented, vascular coat of the posterior five-sixths of the eyeball, continuous with the iris in front. The choroid lies between the sclera externally and the retina internally and prevents the passage of light rays. Symptoms include blurred vision, distortion of the size and shape of objects (metamorphopsia), and floating black spots in the visual field. Occasionally, eye pain and the excess secretion of tears may occur. Marked reduction of vision may occur when the inflammation is centered on the posterior pole inside the eyeball. Inflammation limited to the edges of the inside of the eyeball often does not affect vision. Scars inside the eye can indicate recurrent Uveitis. Other symptoms may be associated with Posterior Uveitis including oozing (exudative) retinal detachment, loss of transparency of the lens of the eye (cataract), and inflammation of the internal structures of the tissues in the eyeball (endophthalmitis). Causes Posterior Uveitis often occurs as a complication of Toxoplasmosis, or other infections such as Syphilis. Behcet's Syndrome, Sarcoidosis, Arthritis, or Tuberculosis can also cause Uveitis. (For more information on these disorders, choose toxoplasmosis, syphilis, behcet, sarcoidosis, arthritis, and TB as your search terms in the Rare Disease Database.) Some medical researchers believe Posterior Uveitis may be an autoimmune disorder. In other cases no cause may be determined. In children, inflammation of parts of the eye including the choroid and retina (chorioretinitis) with vitreous membranes may result from the presence of a parasite inside the eyeball. Affected Population Posterior Uveitis affects individuals who may have another health condition such as Toxoplasmosis, Syphilis, Behcet's Syndrome, Sarcoidosis, Arthritis, Tuberculosis, or who have been exposed to the parasite Toxacara. The disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Posterior Uveitis. Comparisons may be useful for a differential diagnosis: Anterior Uveitis is characterized by inflammation limited to the ciliary body and iris of the eye. The choroid of the eye is not affected, as in Posterior Uveitis. Pars Planitis is a vision disorder characterized by inflammation of the peripheral retina and pars plana (a section of the ciliary body connected to the retina) sections of the eye. Fluid and foreign cells can infiltrate the clear gelatin-like substance (vitreous humor) near the retina and/or pars plana. Swelling inside the eye can also occur. These abnormalities may appear in one or both eyes. (For more information on this disorder, choose "Pars Planitis" as your search term in the Rare Disease Database). Heterochromic Uveitis is characterized by pigmentary changes in the iris of the eye. This occurs in conjunction with inflammation of the anterior uvea complicated by deposits on the posterior lining of the cornea (Descemet's membrane) and by clouding (opacities) of the clear lens of the eye. Therapies: Standard Active choroid and/or retinal inflammation associated with Posterior Uveitis is frequently treated with systemic corticosteroid drugs. Other treatment depends on determination of the exact cause of the disorder. When a parasite such as Toxacara (associated with Toxoplasmosis) is identified as the cause, treatment should be prescribed to eliminate this infection. Ibuprofen may be a useful drug for control of inflammation associated with Posterior Uveitis. Therapies: Investigational Cyclosporine (Sandimmune) may be of potential benefit for treating a number of dermatologic diseases. These include Pemphigus and Bullous Pemphigoid, Posterior Uveitis and Behcet's Syndrome, collagen vascular disorders such as severe Dermatomyositis, Sjogren's Syndrome, and Scleroderma, Mycosis Fungoides, and Alopecia Areata. Certain types of skin grafts have also shown improvement after cyclosporine treatment, in some cases. However, this drug may also be associated with severe and life-threatening side effects which would limit its use in many patients. Careful monitoring of this drug by a physician is necessary to guard against possible toxic side effects. Relapses can occur when the drug is discontinued. More research is needed before cyclosporine can be recommended as a treatment for all but the most severe cases of the disorders listed above. Even for the most severe cases its use is still experimental, and long-term effects are unknown. Trials involving another immunosuppressive drug, mizoribine, has benefited some patients. More research is necessary to determine safety and effectiveness of these experimental treatments. This disease entry is based upon medical information available through March 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on this Posterior Uveitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Vision Foundation, Inc. 818 Mt. Auburn Street Watertown, MA 02172 (617) 926-4232 1-800-852-3029 (inside Massachusetts) For information about associated infections such as Toxoplasmosis: NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References CYCLOSPORIN A IN THE TREATMENT OF POSTERIOR UVEITIS: E.M. Graham, et al.; Eye (1985, issue 104 (Part 2)). Pp. 146-151. RENAL HISTOPATHOLOGIC ALTERATIONS IN PATIENTS TREATED WITH CYCLOSPORINE FOR UVEITIS: A.G. Palestine, et al.; N Engl J Med (May 15, 1986, issue 314 (20)). Pp. 1293-1298. APPLICATION OF MIZORIBINE AFTER KERATOPLASTY AND IN THE TREATMENT OF UVEITIS: A. Nakajima, et al.; Am J Ophthalmol (July 15, 1985, issue 100 (1)). Pp. 161-163. MODULATION OF LENS-INDUCED UVEITIS BY SUPEROXIDE DISMUTASE: N.A. Rao, et al.; Ophthalmic Res (1986, issue 18 (1)). Pp. 41-46. IBUPROFEN IN THE TREATMENT OF UVEITIS: W.F. March, et al.; Ann Ophthalmol (February 1985, issue 17 (2)). Pp. 103-104. TREATMENT OF EXPERIMENTAL GRANULOMATOUS UVEITIS BY LIPOXYGENASE AND CYCLO-OXYGENASE INHIBITORS: N.A. Rao, et al.; Arch Ophthalmol (March 1987, issue 105(3)). Pp. 413-415. Posterior Uveitis e fu%# (#pagetitle 494: Posterior Uveitis 04135.TXT 1Copyright (C) 1984, 1985, 1987, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 14: Prader-Willi Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Prader-Willi Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Prader-Labhart-Willi Fancone Syndrome Hypogenital Dystrophy with Diabetic Tendency HHHO Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome Cryptochidism-Dwarfism-Subnormal Mentality Labhart-Willi Syndrome Willi-Prader Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Angelman Syndrome Cohen Syndrome Alstrm syndrome Laurence-Moon-Biedl Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Prader-Willi syndrome is a complex multisystem disorder diagnosed more often in males born after a prolonged gestation period (delayed birth), often in the breech position. This disorder is characterized by muscular weakness in the infant (infantile hypotonia), failure to thrive, a decrease in the efficiency of the testes or ovaries (hypogonadism), short stature and impaired intellectual and behavioral functioning. Hyperphagia (eating excessive amounts of food) leads to severe obesity in early childhood and adolescence. Symptoms Early symptoms of Prader-Willi syndrome include decreased fetal movement, low birth weight, muscular weakness (hypotonia), sleepiness, a weak cry and poor sucking ability. Other characteristics may include unusually small hands and feet (acromicria), narrow forehead (bifrontal diameter), crossing of the eyes (strabismus), almond-shaped eyes (palpebral fissures), and developmental delays relating to head control and the ability to crawl. A need to eat an extraordinary amount of food (hyperphagia) usually develops between 1 to 3 years of age. If left uncontrolled, the obesity of Prader-Willi Syndrome can lead to life-threatening heart and lung complications, diabetes, hypertension and to other serious disorders. The compulsion to eat is so overwhelming in people with this disorder that if left unsupervised, they may endanger themselves by eating inedible objects. The sexual development of children with Prader-Willi syndrome may begin earlier than normal but generally stops after puberty. In males the testes may fail to descend into the scrotum (cryptorchidism) and the penis may be very small (micropenis). Unusually small and underdeveloped (hypoplastic) labia are seen less frequently in girls. Patients are mentally retarded, most with IQ's between 40 and 60, but some patients can be only mildly retarded. Patients tend to have fair coloring, blue eyes and sun-sensitive skin. They may frequently scratch or pick at sores and insect bites. There are also behavioral symptoms associated with Prader-Willi Syndrome including temper tantrams which may become more severe during adolescence. Causes Prader-Willi Syndrome is a rare genetic disorder caused most frequently by a cytogenetic deletion of chromosome 15q11q13. The deletion always occurs on the chromosome from the father (paternally derived); these are sporadic (new and spontaneous or "de novo") deletions, since the father of the child affected with Prader-Willi syndrome has normal chromosomes. There is less than 1:1000 risk of recurrence when a cytogenetic deletion is found. Prader-Willi syndrome may be inherited as a dominant gene. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) An identical cytogenetic deletion is seen in patients with Angelman syndrome, but the chromosome involved is always from the mother (maternal origin). These findings suggest that chromosomal imprinting may be critical in the expression of these two syndromes. Symptoms of Angelman syndrome are very different from the symptoms of Prader-Willi syndrome (see the related disorders section of this report). Some patients with Prader-Willi syndrome who do not have a cytogenetic deletion on chromosome 15 have been found (by the testing of genetic material, DNA markers) to have inherited both of their 15th chromosomes from the mother (maternal uniparental disomy). Uniparental disomy is a condition in which both chromosomes are inherited from the same parent, in this case the mother. In genetics, human traits are the product of two genes, one inherited from the father and one from the mother. Scientists do not understand why uniparental disomy occurs in some people. Additionally, an environmental cause of chromosome 15 abnormality has been proposed; namely, the prolonged exposure of the father to hydrocarbons but there is no evidence for chromosomal breakage caused by hydrocarbons. Affected Population Prader-Willi syndrome is a rare disorder found more often in males than females. Its prevalence is unknown since many patients with Prader-Willi Syndrome are undiagnosed or misdiagnosed. Related Disorders Symptoms of the following disorders can be similar to those of Prader-Willi syndrome. Comparisons may be useful for a differential diagnosis: Angelman Syndrome is a very rare genetic disorder characterized by severe mental retardation, unusual facial expression and muscular abnormalities. It was first described in the medical literature as the "happy puppet syndrome". Other symptoms usually include a small head (microcephaly), a protruding jaw (mandible) and an open mouth and visible tongue. Patients seem to smile continually and they laugh excessively. Speech is generally absent. The symptoms of Prader-Willi Syndrome are not similar to Angelman Syndrome but they are both caused by a similar defect on chromosome 15. (For more information on this disorder, choose "Angelman Syndrome" as your search term in the Rare Disease Database). Cohen Syndrome is a rare genetic disorder characterized by multiple facial, mouth and eye abnormalities, muscle weakness, obesity and mental retardation. Children who have Cohen syndrome usually have a low birth weight and delayed growth. Other symptoms of this disorder may include an usually small head (microcephaly), a high nasal bridge, an open mouth, prominent lips and large ears. The jaw may develop abnormally and there may be a mild down-slant to the eyes. (For more information on this disorder, choose "Cohen Syndrome" as your search term in the Rare Disease Database). Alstrm Syndrome is a rare inherited disorder characterized by retinitis pigmentosa (degeneration of the retina in the eyes) and childhood obesity. There is usually degeneration of the retina leading to visual impairment. Involuntary rhythmic movements of the eyes and the loss of central vision occur. The child generally develops hearing loss and diabetes mellitus after the age of ten. (For more information on this disorder, choose "Alstrm Syndrome" as your search term in the Rare Disease Database). Laurence-Moon-Biedl Syndrome is a rare inherited disorder characterized by a decrease in the efficiency of the testes or ovaries (hypogonadism), retinitis pigmentosa (degeneration of the retina in the eyes), mental retardation, more than the normal number of fingers or toes (polydactyly), and obesity. Obesity is one of the earliest signs of this disorder. (For more information on this disorder, choose "Laurence-Moon-Biedl Syndrome" as your search term in the Rare Disease Database). Therapies: Standard The treatment for Prader-Willi syndrome is symptomatic and supportive. High resolution prometaphase chromosome analysis is recommended to identify the specific genetic defect. Physical therapy may be necessary to help develop a proper walking pattern, and improve muscle size and tone. Exercise programs can be helpful for weight control. The development of a proper diet, good nutrition, and a good exercise program are necessary to deal with the life-threatening insatiable appetite of Prader-Willi patients. A highly structured residential program is usually necessary, keeping food out of reach of the patient. Meals must be calorie controlled containing approximately 60 percent less calories than would normally be expected. Therapies: Investigational Prader-Willi Syndrome is the subject of ongoing medical research including studies in the area of obesity and chromosomal abnormalities. Specific diets, studying behavior, daily hormone cycles and brain scans are also the subject of studies. For further information contact: NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 Att: Dr. Sidbury (301) 496-6683 Prader-Willi syndrome and its association with diabetes and nutrition are also under investigation. For further information contact: USC Medical Center 2025 Zonal Avenue, Rm. 252 Los Angeles, CA (213) 226-7616 Att: George Bray, M. D. The Prader-Willi Syndrome Association is funding a study on the molecular genetics of Prader-Willi patients. Interested parties may get more information by contacting: Drs. Suzanne Cassidy or Robert Erickson Dept. of Pediatrics University of Arizona Tucson, AZ Scientists are studying the use of Human Growth Hormone (hGH) in Prader-Willi Syndrome in the hope that the drug may decrease fat and build muscle. However, the drug is very expensive ($10,000 to $40,000 per yer) and some insurors will not pay for it unless there is proof that the patient has an actual deficiency of growth hormone. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Prader-Willi Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Prader-Willi Syndrome Association 1821 University Ave., N-356 St. Paul, MN 55104 (612) 641-1955 (800) 926-4797 FAX (612) 641-1952 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Association for Retarded Citizens of the United States P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 (800) 433-0525 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10603 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 170-3. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 912-916. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1146. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1408-1411. LOCALIZATION OF THE GENE ENCODING THE GABAA RECEPTOR BETA 3 SUBUNIT TO THE ANGELMAN/PRADER-WILLI REGION OF HUMAN CHROMOSOME 15, J. Wagstaff et al.; Am J Hum Gen (Aug 1991; 49(2)): Pp. 330-337. PRADER-WILLI SYNDROME: CURRENT UNDERSTANDING OF CAUSE AND DIAGNOSIS, M.G. Butler; Am J Med Genet (Mar 1990; 35(3)). Pp. 319-332. Prader-Willi Syndrome 2pagetitle 14: Prader-Willi Syndrome 04136.TXT :Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare Disorders, Inc. 528: Precocious Puberty _________________________ ** IMPORTANT ** It is possible the main title of the article (Precocious Puberty) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Pubertas Praecox Gonadotropin-Independent Familial Sexual Precocity Familial Testotoxicosis DISORDER SUBDIVISIONS: Precocious Puberty Idiopathic Precocious Puberty Isosexual Precocious Puberty Heterosexual Precocious Puberty True Precocious Puberty Central Precocious Puberty Peripheral Precocious Puberty Male-Limited Precocious Puberty Gonadotropin-Dependent Precocious Puberty Gonadotropin-Independent Precocious Puberty Information on the following diseases can be found in the Related Disorders section of this report: McCune-Albright Syndrome Congenital Adrenal Hyperplasia Pseudo-Precocious Puberty Adrenogenital Syndrome Neurofibromatosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Precocious Puberty means an abnormally early onset of puberty. A sequence of events occurs during which a child develops into a young adult beginning at an unexpectedly early age. Glands that secrete growth and sex hormones begin to function abnormally early in life resulting in this condition. The exact cause of Precocious Puberty is not known. Symptoms Precocious Puberty can occur in several forms. Normally, the hypothalamus initiates puberty by stimulating the pituitary to release gonadotropins, the hormones which control growth and function of sex organs. When gonadotropins are released, synthesis and secretion of steroids (such as estrogen, progesterone or testosterone) occurs, leading to development of secondary sexual characteristics. If this occurs prematurely, a child starts to develop secondary sexual characteristics and proceeds to sexual maturity at an unexpectedly early age. This disorder is characterized among females by breast development beginning before the age of eight years, or the onset of menstruation before the age of ten years. Among males, Precocious Puberty begins before the age of ten years. Boys with this disorder tend to exhibit facial, underarm (axillary) and pubic hair, accelerated growth, a deepening voice and aggressive behavior. Puberty may occur before three years of age in some cases of this disorder. Premature release of the LH-RH hormone from the hypothalamus results in the secretion of the pituitary gonadotropin hormones, which in turn stimulate the gonadal sex steroids among young children with true Precocious Puberty. Since the aging of bones is usually accelerated by this condition, early fusion of the ends of the long bones or growth plates occurs, resulting in short adult stature. However, during childhood children with Precocious Puberty are taller than their peers. Among girls with Isosexual Precocious Puberty, feminizing changes occur, whereas Heterosexual Precocious Puberty is associated with masculinizing changes. Cerebral Precocious Puberty is caused by brain abnormalities, but closely resembles True Precocious Puberty. Idiopathic Precocious Puberty has no identifiable cause. Among females affected by Idiopathic Precocious Puberty, electrical brain activity abnormalities tend to occur. Electroencephalographic (EEG) tests identify these abnormalities. However, their significance is not well understood. Central Precocious Puberty is characterized by changes which affect the central nervous system. Gonadotropin-Dependent Precocious Puberty is characterized by high concentrations of gonadotropin hormones in girls. In males, Isosexual Precocious Puberty is independent of LHRH hormone release. Gonadotropin-Independent Precocious Puberty is marked by low levels of gonadotropin and usually affects males. Girls with McCune-Albright Syndrome may have either Gonadotropin-Dependent or Independent Precocious Puberty. Causes The exact cause of most cases of Precocious Puberty is not known. In some cases, puberty begins early as the result of a disorder affecting the endocrine glands. Male-limited Precocious Puberty is thought to be inherited through either a sex-linked autosomal dominant inheritance pattern or a sex linked recessive pattern. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Less frequent causes of Precocious Puberty in girls include the presence of abnormal tumors of the hypothalamus as well as Neurofibromatosis, congenital brain lesions, postinfectious encephalitis, hydrocephalus, and craniopharyngiomas. Very rarely, ingestion of birth control pills, or other preparations containing estrogens, or meat containing high estrogen concentrations can cause this disorder. Primary hypothyroidism and McCune-Albright Syndrome often occur in conjunction with Precocious Puberty. Young girls with McCune-Albright Syndrome may develop either gonadotropin or gonadotropin-dependent forms of Precocious Puberty. Hormone-secreting tumors of the ovary or adrenal glands are also associated with Precocious Puberty. Estrogen-secreting ovarian granulosa-thecal cell tumors are probably the most common form of sex steroid-secreting tumors among girls with this disorder. Human chorionic gonadotropin-s tumors of the ovary, such as choriocarcinomas or teratomas, may be associated with ovarian sex steroid stimulation and precocious puberty in girls. Benign ovarian cysts may be present in some female patients. Affected Population Precocious Puberty affects females approximately twice as often as males. Approximately eighty percent of female cases have no known cause. Related Disorders Symptoms of the following disorders can be similar to those of Precocious Puberty. Comparisons may be useful for a differential diagnosis: Pseudo-Precocious Puberty is characterized by high steroid levels due either to ingestion of steroids, hormone-producing tumors (usually of the ovaries or testes), or abnormalities of the adrenal gland which cause over-production of hormones. Although patients appear to be maturing sexually, ovulation or sperm production may not occur because the gonads are not mature. However, in children with Precocious Puberty, ovulation and sperm production can occur abnormally early in life. Adrenogenital Syndrome is a group of disorders caused by overdevelopment of the adrenal glands (adrenocortical hyperplasia) or malignant tumors in these glands. Masculinization of women or precocious sexual development of male children are the chief characteristics of this syndrome. These disorders are characterized by excessive or abnormal secretions of adrenocortical steroids. The following disorders may precede the development of Precocious Puberty. They can be useful in identifying an underlying cause of some forms of this disorder: McCune-Albright Syndrome is characterized by an early (precocious) sexual development, a change in bone structure, pain, increasing deformity, and abnormal changes in skin pigmentation (cafe-au-lait spots). This syndrome affects the endocrine and musculoskeletal systems. (For more information on this disorder, choose "McCune-Albright" as your search term in the Rare Disease Database). Congenital Adrenal Hyperplasia is a group of disorders resulting from defective synthesis of the corticosteroid hormones of the adrenal gland. The adrenal gland becomes enlarged because it tries to produce more and more of the hormones to compensate for their lack of effectiveness. The adrenal gland produces "male" sex hormones (androgens) in both males and females; because these are overproduced in certain forms of CAH, the external genitalia of some females with this disorder can become masculinized to various degrees. Lack of glucocorticoids, especially cortisol, causes various kinds of metabolic problems. Low levels of mineralocorticoids, primarily aldosterone, causes salt and water imbalances. (For more information on this disorder, choose "Adrenal Hyperplasia" as your search term in the Rare Disease Database). Neurofibromatosis (NF) is a genetic disorder with highly variable manifestations which can affect many body systems. Symptoms usually begin during childhood. The disorder tends to become more active at puberty, during pregnancy, and at menopause. Neurofibromatosis is characterized by multiple nerve tumors under the skin which can result in disfigurement, curvature of the spine and long bones, and other complications. (For more information on this disorder, choose "Neurofibromatosis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Precocious Puberty is structured according to the cause of the disorder. Girls with heterosexual precocious puberty caused by Congenital Adrenal Hyperplasia can be treated by glucocorticoid suppression of the hormone known as ACTH. Girls with Precocious Puberty in conjunction with McCune-Albright Syndrome can be treated with the aromatase inhibitor testolactone, which blocks the synthesis of estrogens. Gonadotropin-Dependent Precocious Puberty in girls can be treated with intranasal administration of the hormone suppressing drug nafarelin acetate. Some lesions of the hypothalamus, as well as ovarian tumors or cysts, can be treated surgically. Hormone sources originating outside the body can be eliminated, provided they are identified. Girls with Precocious Puberty caused by primary hypothyroidism have delayed epiphyseal closure of long bone ends and usually respond well to replacement levothyroxine. Genetic counseling will be of benefit for families of patients with male-limited Precocious Puberty (Familial Testotoxicosis) and other genetic forms of this disorder. Ortho's orphan drug Supprelin (histrelin acetate), has received approval from the FDA for treatment of Precocious Puberty. The drug has been shown to be effective in reducing early sexual changes in boys and girls and to slow accelerated bone maturation. It is given once a day by subcutaneous injection. The orphan product Leuprolide Acetate (Lupron Injection) has received approval from the FDA for treatment of Central Precocious Puberty. The product is manufactured by: Tap Pharmaceuticals, Inc. 2355 Waukegan Rd. Deerfield, IL 60015 Therapies: Investigational To slow the growth rate of males with Isosexual Precocious Puberty, a combination of the drugs spironolactone and testolactone has been used experimentally to restore the growth rate and rate of maturation to normal pre-pubertal levels. The drugs must be prescribed for at least six months. Long-term safety and effectiveness of this treatment has not yet been assessed. Children with Central Precocious Puberty may be treated with an orphan drug known as deslorelin (Somagard). For information on this drug, physicians can contact: Roberts Laboratories, Inc. Meridian Center III 6 Industrial Way West Eatontown, NJ 07724 (201) 389-1182 This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Precocious Puberty, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 NIH/National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Brain & Pituitary Foundation of America 1360 Ninth Avenue, Suite 210 San Francisco, CA 94122 (209) 227-5466 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 628-629. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. P. 1975. TREATMENT OF PRECOCIOUS PUBERTY IN THE MCCUNE-ALBRIGHT SYNDROME WITH THE AROMATASE INHIBITOR TESTOLACTONE: P.P. Feuillan, et al.; N Engl J Med (October 30, 1986, issue 315 (18)). Pp. 1115-1119. INTRANASAL NAFARELIN: AN LH-RH ANALOGUE TREATMENT OF GONADOTROPIN- PUBERTY: T.H. Lin, et al.; J Pediatr (December 1986, issue 109 (6)). Pp. 954-958. CT OF CEREBRAL ABNORMALITIES IN PRECOCIOUS PUBERTY: K.G. Rieth, et al.; AJR (June 1987, issue 148(6)). Pp. 1231-1238. THE TREATMENT OF FAMILIAL MALE PRECOCIOUS PUBERTY WITH SPIRONOLACTONE AND TESTOLACTONE. L. Laue, et al.; The New Eng. J. Med (February 23, 1989, issue 320 (8)). Pp. 496-502. Precocious Puberty ;pagetitle 528: Precocious Puberty 04137.TXT Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc. 645: Primary Lateral Sclerosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Primary Lateral Sclerosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Central Motor Neuron Disease PLS Motor Neuron Disease Information on the following diseases can be found in the Related Disorders section of this report: ALS (Amyotrophic Lateral Sclerosis) Werdnig-Hoffmann Disease Multifocal Motor Neuropathy (MMN) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Primary Lateral Sclerosis is a rare neurological disease affecting the central motor neurons. It causes progressive muscle weakness in the facial area, hands, arms, legs and feet. It is associated with spasticity and hyperactive deep-tendon reflexes of the muscles in these areas. Symptoms Primary Lateral Sclerosis is a disease of the nerve cells which control muscles. Initially there are few symptoms and there is a slow progression of the neurological dysfunction. There may be spastic reactions of the muscles in the hands, feet or legs which may progress to paralysis. The ability to speak may also be affected as the muscles used in speaking may become involved. The senses and intelligence of the patient are unaffected. The disease may progress slowly over a number of years with wasting and weakening of the affected muscles. Causes Like many other motor neuron diseases, the exact cause of Primary Lateral Sclerosis is not known. Affected Population Primary Lateral Sclerosis is a rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Primary Lateral Sclerosis. Comparisons may be useful for a differential diagnosis: Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease) is a disorder of the motor neuron cells. It generally affects both the upper and lower motor neurons and results in the progressive wasting and weakening of those muscles which have lost their nerve supply. There are a number of different forms of ALS, all exhibiting some of the classical symptoms. Slight patchy weakness, clumsiness of the hands, weakness in the legs, slowing of speech, difficulty in swallowing, and night cramps in the leg muscles are a few of these symptoms. (For more information on this disorder, choose "ALS" as your search term in the Rare Disease Database). Werdnig-Hoffmann Disease is a severe and usually rapidly progressive motor neuron disease that affects infants. It is characterized by a generalized atrophy and weakness of the muscles of the trunk and extremities, as a result of degenerative changes in the ventral horn cells of the spinal cord. This weakness, referred to as the amyotonia congenital syndrome, is also found in other neuromuscular diseases. (For more information on this disorder, choose "Werdnig-Hoffmann" as your search term in the Rare Disease Database). Multifocal Motor Neuropathy is a neurologic disease that has symptoms similar to Amyotrophic Lateral Sclerosis (ALS). However, lower motor neurons are mainly affected. Patients with this disease have slowly progressive muscle wasting and weakness without spasticity and stiffness. This disorder may respond to immunosuppressive drug treatment. For the patients who respond the weakness may not only stop progressing but may also improve. Therapies: Standard Treatment of Primary Lateral Sclerosis involves the use of drugs to help control the symptoms. Baclofen is prescribed for spasticity, Quinine for cramps, and Diazepam for muscular contractions. Other treatments may include physical therapy to prevent stiffness of joints, and speech therapy may be needed to aid the patient whose ability to speak has been impaired by muscle weakness. Other treatment is symptomatic and supportive. Therapies: Investigational Scientists are conducting extensive ongoing research on motor neuron diseases in the areas of nerve growth factors, axonal transport, androgen receptor in motor neurons, and DNA/RNA changes. Syntex-Synergen Neuroscience of Boulder, CO, is sponsoring an orphan product for the treatment of motor neuron diseases including Primary Lateral Sclerosis. The chemical name is ciliary neurotrophic factor, recombinant human. This disease entry is based upon medical information available through June 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Primary Lateral Sclerosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The Amyotrophic Lateral Sclerosis Society 21021 Ventura Blvd., Suite 321 Woodland Hills, CA 91364 (818) 340-7500 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2239, 2243. CHRONIC PROGRESSIVE SPINOBULBAR SPASTICITY. A RARE FORM OF PRIMARY LATERAL SCLEROSIS. J.L. Gastaut, et al.; Arch Neurol (May, 1988, issue 45 (5)). Pp. 509-513. CLINICAL AND ELECTROPHYSIOLOGICAL STUDIES IN PRIMARY LATERAL SCLEROSIS. L.S. Russo, Jr. Arch Neurol (October, 1982, issue 39 (10)). Pp. 662-664. PRIMARY LATERAL SCLEROSIS; A CASE REPORT. M.F. Beal, et al.; Arch Neurol (October, 1981, issue 38 (10)). Pp. 630-633. PRIMARY LATERAL SCLEROSIS, A DEBATED ENTITY. K.A. Sotaniemi, et al.; Acta Neurol Scand (April, 1985, issue 71 (4)). Pp. 334-336. Primary Lateral Sclerosis ll, - pagetitle 645: Primary Lateral Sclerosis 04138.TXT `%`%Copyright (C) 1990 National Organization for Rare Disorders, Inc. 810: Proctitis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Proctitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Ischemic Proctitis Antibiotic-Induced Proctitis Radiation Proctitis Gonorrheal Proctitis Syphilitic Proctitis Herpetic Proctitis Information on the following diseases can be found in the Related Disorders section of this report: Ulcerative Colitis Crohn's Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Proctitis is a chronic inflammatory disease arising in the rectum and characterized by bloody diarrhea. There are two types of Proctitis, Ulcerative and Gonnorheal, which are differentiated by the means in which they are contracted. Gonnorheal Proctitis is transmitted through sexual contact. Symptoms Symptoms of Proctitis are most frequently pain in the rectal area and a frequent desire to pass feces. Bloody diarrhea, painful defecation and bleeding in the rectal area are also common. Diarrhea may be followed by constipation with spasm and severe straining of the rectal muscles (tenesmus). In some cases, stools may be well formed but surrounded by blood and mucus. Proctitis usually runs a mild, intermittent course over many years. Occasionally there is neurological involvement with urinary bladder dysfunction, weakness and burning of the lower limbs (paresthesias) and pain in the thighs. Men may have difficulty maintaining penile erections. When a diagnosis of Gonnorheal Proctitis is confirmed, individuals also should be tested for other sexually transmitted organisms such as syphilis, amebiasis, chalmydia, campylobacter, shigella, and herpes simplex virus infections. Upon examination, individuals with Ulcerative Proctitis show ulcers in the rectum. Ulcerations are usually accompanied by rectal bleeding, straining of rectal muscles (tenesmus) and an anal discharge of bloody mucus. However, anal bleeding is seldom severe. Individuals with diarrhea often describe no increase in stool volume but rather frequent passage of small amounts of mucous or blood. Fever and weight loss are rare. Symptoms of Ulcerative Proctitis are very similar to Ulcerative Colitis. However, Ulcerative Proctitis is not as serious as Colitis and is limited to the rectum. (See related disorder section for more information on Ulcerative Colitis.) Causes Proctitis can be caused by the pus-producing bacteria gonococci and by the herpes simplex virus, primary and secondary syphilis, chlamydia trachomatis and the human papilloma viruses. Gonococcal Proctitis usually results from passive anal intercourse with men who have infection in the canal that empties urine from the bladder (urethra). Ulcerative Proctitis may be caused by radiation injury, trauma from a foreign body, constriction or obstruction of a blood vessel (ischemia), infection or the cause may be unknown (idiopathic). The effects of irritating enemas or laxatives may be confused with Ulcerative Proctitis. This disorder may also mimic the symptoms of long-term trauma. Affected Population Proctitis is increasing in incidence. Gonococcal Proctitis is most frequently found in women and homosexual men who practice anal-receptive intercourse. Related Disorders Symptoms of the following disorders can be similar to those of Proctitis. Comparisons may be useful for a differential diagnosis: Ulcerative Colitis is an acute inflammation of the large intestine (colon) characterized by multiple, irregular, superficial ulcerations. The inflammation results in thickening of the wall of the colon with scar tissue and polyp-like growths. The primary symptom of Ulcerative Colitis is bloody diarrhea. The disease may involve only one side of the colon or it may eventually spread throughout the entire large intestine. (For more information on this disorder, choose "Ulcerative Colitis" as your search term in the Rare Disease Database.) Crohn's Disease is a form of inflammatory bowel disease and is characterized by chronic diarrhea, abdominal pain, fever, weight loss and a solid mass in the abdomen. The intestine gradually becomes thickened and leathery. Complications may appear in the joints, skin and eyes. (For more information on this disorder, choose "Crohn's Disease" as your search term in the Rare Disease Database.) Therapies: Standard Diagnosis of Proctitis is made when sigmoidoscopy reveals inflammation of the mucus lining of the rectum with a clearly demarcated upper border above which the lining is normal. The remainder of the colon and small intestine is found to be normal by barium x-rays, while colonoscopy and rectal biopsy may show changes which are indistinguishable from those of Chronic Ulcerative Colitis. (For more information on Chronic Ulcerative Colitis, see the related disorder section of this report.) Treatment of Proctitis is determined by cause. Gonococcal Proctitis responds to standard intramuscular injection with procaine penicillin or spectinomycin, but less consistently to oral treatment with penicillin or tetracycline. Primary Herpetic Proctitis responds well to acyclovir. Chlamydial Proctitis responds to tetracycline. Treatment of idiopathic (unknown cause) Ulcerative Proctitis is very similar to that of Ulcerative Colitis and Crohn's Disease, and includes a nonlaxative diet, the administration of antidiarrheal drugs such as diphenoxylate hydrochloride with atropine sulfate (Lomotil) or loperamide. Topical corticosteroids may be applied in the form of suppositories, steroid enemas or steroid foam. Enemas or suppositories should be administered at bedtime to maximize their retention. The drug sulfasalazine taken orally for three weeks or more may also be prescribed. Other symptoms may be treated by pain-killing and antispasmodic drugs. Hospitalization may be necessary for a thorough physical examination. Although Proctitis may persist for many years, it is not associated with an increased incidence of cancer of the rectum or colon. With treatment, Proctitis usually runs a course with periodic mild to severe episodes of symptoms. The inflammation spreads beyond the rectum in only 10 to 30% of individuals affected with Proctitis. Less than 15% of individuals with Ulcerative Proctitis will develop Chronic Ulcerative Colitis. Approximately 40% of homosexual males with Proctitis also have anorectal gonorrhea. It is not unusual to discover multiple disease producing organisms in patients with Proctitis. Men who have had passive rectal intercourse with sex partners who have gonococcal infection of the ureter should have cultures performed for gonorrhea, regardless of an apparent lack of symptoms. Therapies: Investigational This disease entry is based upon medical information available through September 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Proctitis, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse P.O. Box NDDIC Bethesda, MD 20892 (301) 468-6344 American Social Health Association 100 Capitola Dr., Suite 200 Research Triangle Park, NC 27713 (919) 361-8400 National Sexually Transmitted Diseases Hotline (800) 227-8922 Council for Sex Information and Education 444 Lincoln Blvd., Suite 107 Venice, CA 90291 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, M.D., et al., eds; W.B. Saunders Company, 1988. Pp. 787. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, M.D., ed.-in-chief; Little, Brown and Co., 1987. Pp. 138, 150, 1671. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 251, 801-806, 985. LYMPHOID FOLLICULAR PROCTITIS. A CONDITION DIFFERENT FROM ULCERATIVE PROCTITIS? J. F. Flejou et al.; DIG DIS SCI (March, 1988: issue 33 (3)). Pp. 314-320. THE LIGHT AND ELECTRON MICROSCOPIC FEATURES OF EARLY AND LATE PHASE RADIATION-INDUCED PROCTITIS. N. Y. Haboubi, et al.; AM J GASTROENTEROL (October, 1988: issue 83 (10)). Pp. 1140-1144. COMPARISON OF BECLOMETHASONE DIPROPIONATE AND PREDNISOLONE 21-PHOSPHATE ENEMAS IN THE TREATMENT OF ULCERATIVE PROCTITIS. H. van der Heide, et al.; J CLIN GASTROENTEROL (April, 1988: issue 10 (2)). Pp. 169-172. PREVALENCE OF SEXUALLY TRANSMITTED DISEASE AMONG MALE PATIENTS PRESENTING WITH PROCTITIS. H. Andrews, et al.; GUT (March, 1988: issue 29 (3)). Pp. 332-335. ARGON LASER TREATMENT OF RADIATION PROCTITIS. J.J. O'Connor, et al.; ARCH SURG (June, 1989: issue 124 (6)). Pp. 749.'& Proctitis er f]& `&pagetitle 810: Proctitis 04108.TXT Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc. 673: Pick's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pick's Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Diffuse Degenerative Cerebral Disease Lobar Atrophy Information on the following diseases can be found in the Related Disorders section of this report: Alzheimer's Disease Huntington's Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pick's Disease is a very rare progressive disease affecting the lobes of the brain. Major symptoms may include changes in intellect, behavior and personality. Symptoms Pick's Disease is characterized by progressive deterioration of intellect with changes in behavior and personality. The memory is usually intact in the early stages of the disease and there is less disorientation than in Alzheimer's disease. This brain disease is very closely related to Alzheimer's disease and can even coexist with Alzheimer's. People with Pick's Disease don't show the tangles and plaques in the brain that are characteristic of Alzheimer's. However, in later stages there is loss of motor control as well as confusion and severe dementia (loss of intellect). Pick's Disease is characterized by atrophy (shrinkage) of the brain, but the atrophy does not occur evenly over the entire brain. Only the lobes of the brain are affected while other areas of the brain appear unaffected. There are also changes in certain nerve cells in the brain and the presence of Pick's inclusion bodies. The reason for this is not known. The disease primarily affects individuals in their 50's, 60's and 70's, but early cases have been reported in people as young as 30 years of age. Diagnosis of Pick's disease is very difficult, and a neurologist should be consulted. Causes Most cases of Pick's Disease have been reported to occur for no apparent reason. However, some cases appear in families and this may indicate some genetic predisposition for the disease. So far researchers have not been able to located a mode of genetic transmission for this disorder. However, research on Alzheimer's disease and related dementias may shed some light on the cause of Pick's Disease. Affected Population Pick's Disease affects females more often than males. The incidence in the United States. indicates a much lower prevalence than Alzheimer's Disease. Studies from the University of Michigan have shown a dozen cases of Pick's Disease in 35 years. However, In Minnesota, Pick's Disease accounts for about 4% of dementias. This may well indicate geographical variance and there may possibly also be an ethnic relationship. Related Disorders Symptoms of the following disorders can be similar to those of Pick's Disease. Comparisons may be useful for a differential diagnosis: Alzheimer's Disease is a progressive disorder of the brain affecting memory, thought and language. Groups of nerve endings in the cortex of people with Alzheimer's degenerate which disrupts the passage of electrochemical signals between the cells. These areas of degeneration are called "plaques". Changes known as "neurofibrillary tangles" also occur in nerve cells of the brain's cortex. The number of plaques and tangles appear to be directly proportional to the disturbance in intellectual function and memory. Recently scientists discovered that Alzheimer's Disease can be inherited through a dominant gene in at least ten percent of affected individuals. Some researchers believe symptoms may be caused by excessive amounts of a protein that builds up in the brains of persons affected by this disorder. There is also abnormally low levels of the brain chemical (neurotransmitter) acetylcholine in patients with this disorder. (For more information on this disorder, choose "Alzheimer" as your search term in the Rare Disease Database). Huntington's Disease is an inherited, progressively degenerative neurological illness. Those affected experience involuntary movements, loss of motor control, changes in gait, loss of memory, and eventual loss of both mental capability and physical control. In general, the symptoms of HD first appear between thirty and fifty years of age. It runs a progressive course, usually over a ten to twenty year period. (For more information on this disorder, choose "Huntington" as your search term in the Rare Disease Database). Dementia can be a symptom of many disorders mimicking Alzheimer's and Pick's disease. To learn more about these illnesses choose "Dementia" as your search term in the Rare Disease Database). Therapies: Standard The diagnosis of Pick's Disease is usually made by a neurologist after taking a careful physical history and examination, a neurological examination, psychometric testing, CAT scan and EEG testing. Patients with progressive dementia often experience frustration, anxiety, and depression resulting from their inability to function at their previous level. These frustrations can be minimized by maintaining a stable home environment and a structured routine that does not place excessive demands on the patient. Sedatives or other drugs that might further dull the patient's intellect should generally be avoided. Other treatment is symptomatic and supportive. Therapies: Investigational The National Institute of Neurological Disorders and Stroke is seeking patients with Pick's Disease and other types of frontal lobe atrophy to participate in a neurobehavioral study. For more information, physicians should contact: Jordan Grafman, Ph.D., Chief Cognitive Neuroscience Section, Medical Neurology Branch NIH/National Institute of Neurological Disorders and Stroke (NINDS) Bldg. 10, Rm. 5C422 Bethesda, MD 20892 (301) 496-0220 This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pick's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Alzheimer's Disease and Related Disorders Association, Inc. National Headquarters 919 N. Michigan Ave., Suite 1000 Chicago, IL 60611 (312) 335-8700 (800) 272-3900 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 NIH/National Institute on Aging (NIA) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-1752 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2150-2153. Pick's Disease] pagetitle 673: Pick's Disease 04109.TXT @!.!Copyright (C) 1989 National Organization for Rare Disorders, Inc. 651: Pierre Robin Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pierre Robin Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Robin Syndrome Pierre Robin Anomalad Robin Anomalad Pierre Robin Sequence Robin Sequence Pierre Robin Complex Information on the following diseases can be found in the Related Disorders section of this report: Cerebro-Costo-Mandibular Syndrome Stickler Syndrome Treacher Collins Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pierre Robin Syndrome is characterized by a combination of three features, possibly due to the underdevelopment of the lower jaw. The lower jaw is abnormally small (micrognathia), the tongue is displaced downwards (glossoptosis), and there is an abnormal opening in the roof of the mouth (cleft soft palate). Symptoms Pierre Robin Syndrome is characterized by an unusually small jaw (micrognathia), downward displaced tongue (glossoptosis), and cleft soft palate. The placement of the tongue may obstruct normal breathing. If Pierre Robin infants have problems breathing, they may fail to thrive, have difficulty in swallowing (dysphagia), and stop breathing temporarily. If this occurs, their skin might develop a bluish or purplish color due to a decrease of oxygen in the blood (cyanosis) which may deprive the brain of its normal oxygen supply. Pierre Robin infants may vomit and develop sleep disturbances that may persist into adulthood. Problems in breathing may lead to lung malfunction and enlargement of part of the heart (cor pulmonale), high blood pressure in the lung's arteries (pulmonary hypertension), and possibly lead to congestive heart failure. Causes The causes of Pierre Robin Syndrome are diverse since it can occur by itself or as a symptom of another disorder. Pierre Robin Syndrome appearing with no underlying disorder may be inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Pierre Robin Syndrome may also result from mechanical constraint of the fetus in the womb, e.g., the chin may be compressed in such a way as to limit its normal development. Recent research suggests that the development of Pierre Robin Syndrome may also be influenced by drugs taken by a woman during pregnancy. Affected Population Pierre Robin Syndrome affects males and females in equal numbers. Less commonly it occurs as a feature in a multiple defect disorder such as Trisomy 18 Syndrome, Stickler Syndrome, or a number of other syndromes. Related Disorders Symptoms of the following disorders can be similar to those of Pierre Robin Syndrome. Comparisons may be useful for a differential diagnosis: Stickler Syndrome is a rare genetic disorder inherited as a dominant trait. Eye defects including nearsightedness (myopia), teeth and bone abnormalities, deafness, and a flat face are characteristic of Stickler Syndrome. It is also characterized by the features of Pierre Robin Syndrome: unusually small lower jaw (micrognathia), downward placed tongue (glossoptosis), and cleft soft palate. (For more information on this disorder, choose "Stickler" as your search term in the Rare Disease Database). Cerebro-Costo-Mandibular Syndrome is a rare genetic disorder characterized by the features of Pierre Robin Syndrome plus rib and chest cavity (thorax) defects. There may be feeding, breathing, and speech difficulties. Occasionally, an unusually small head, mental retardation, abnormally placed fifth fingers, and bone abnormalities also occur. (For more information on this disorder, choose "Cerebro-Costo-Mandibular" as your search term in the Rare Disease Database). Treacher Collins Syndrome is a rare genetic disorder characterized by deformities in the jaw and ears with deafness, cleft palate, and unusually slanted eyes. There may be difficulty in breathing due to a narrow airway. (For more information on this disorder, choose Treacher Collins as your search term in the Rare Disease Database.) Therapies: Standard Pierre Robin Syndrome can be detected while the fetus is still in the womb using ultrasound imaging. Infants with Pierre Robin Syndrome should be observed closely for breathing difficulties. Several methods of intervention are available to help the infant to breathe. A tube may be inserted in the infant's throat (intubation) or a surgical opening may be made into the trachea through the neck (tracheostomy) to assist the infant in breathing. Doctors may wait to see if the palate closes by itself in a few years before deciding to surgically correct the cleft soft palate. Surgery to improve the appearance of the jaw may also be recommended. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pierre Robin Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 A Cleft Palate Team is a group of specialists who are primarily interested in the care of children having clefts. For information about local teams, contact: Prescription Parents (for cleft palate) P.O. Box 426 Quincy, MA 02269 (617) 479-2463 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT NIH/National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1138-1139. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: K.L. Jones; W.B. Saunders Company, 1988. Pp. 196-199. GLOSSOPTOSIS-APNEA SYNDROME IN INFANCY: F. Cozzi and A. Pierro; Pediatrics (May, 1985: issue 75(5)). Pp. 836-843. THE PIERRE ROBIN SYNDROME REASSESSED IN THE LIGHT OF RECENT RESEARCH: J.R. Edwards and D.R. Newall; Br J Plast Surg (July, 1985: issue 38(3)). Pp. 339-342. Pierre Robin Syndrome ctinI" L"pagetitle 651: Pierre Robin Syndrome 04110.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 133: Pinta _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pinta) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mal del Pinto Carate Azul Tina lota Empeines General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Pinta is an infectious disease caused by a microorganism closely related to that which causes venereal syphilis. It is transmitted nonsexually, however, and is characterized by rashes and discolorations of the skin. It is common in the hot lowlands of South and Central America, but is rare in the United States. It responds well to antimicrobial therapy. Symptoms The earliest lesions in Pinta are small papules (bumps) which occur at the site of entry of the pathogenic microorganism. Within several months, these lesions develop into small, reddish or purplish, scaly areas known as pintids. They occur most often on the face, hands, and feet. Over the course of several years, slate blue, coffee colored, red, or violet patches of skin appear on the face, hands, feet, and bony prominences. These colored patches may eventually become bleached and white (vitiligoid). The skin on the soles of the feet and the palms may become somewhat thickened. The lesions are susceptible to secondary infection by other organisms. Otherwise, the prognosis is good. Causes Pinta is caused by a spirochete (a kind of microorganism) known as treponema carateum. This organism is closely related and morphologically indistinguishable from the organisms that cause venereal syphilis, yaws, and bejel (endemic syphilis). It is transmitted by physical, nonsexual contact. Affected Population Pinta affects persons living in the tropical lowlands of South and Central America, such as Mexico and Colombia. Related Disorders The treponematoses (pinta, yaws, bejel (endemic syphilis), and venereal syphilis) are all caused by identical looking treponemas. They differ, however, in distribution, mode of transmission, and clinical characteristics. (Information on these and other tropical diseases can be found in this database.) Therapies: Standard The lesions of Pinta resolve after treatment with antimicrobial drugs such as benzathine penicillin G. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pinta, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3211 National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 132. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1723. Pinta pagetitle 133: Pinta 04111.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 475: Pityriasis Rubra Pilaris _________________________ ** IMPORTANT ** It is possible the main title of the article (Pityriasis Rubra Pilaris) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Devergie Disease Lichen Acuminatus Lichen Psoriasis Lichen Ruber Acuminatus Pityriasis Pilaris Information on the following disorders may be found in the Related Disorders section of this report: Lichen Planus Pityriasis Rosea Psoriasis General Discussion ** IMPORTANT ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pityriasis Rubra Pilaris is a mildly itchy chronic skin disorder which is possibly caused by an inherited metabolic defect. Initially, the disorder is characterized by elevated spots (papules) on the skin. These spots grow and become connected, producing red plaques over large areas. Symptoms Pityriasis Rubra Pilaris is initially characterized by skin lesions described as mildly itchy, sharply pointed, horn-like, brownish-red to rosy yellow-colored papules. These papules usually occur on the back of the wrists, the outside of the forearms, underarm folds, elbows, knees, backs of the hands, and fingers. When the papules grow and connect together they produce dry, scaly, rough, red plaques over large areas of the skin. Gray, brittle nails and excessive oiliness of the glands on the scalp (seborrhea) and face may also occur. Often the edge of the eyelids are turned outward (ectropion). Causes Pityriasis Rubra Pilaris is suspected to be a hereditary disorder transmitted as a autosomal dominant trait. Symptoms may be triggered by a metabolic defect. An acquired form of the disease also exists which may be caused by a deficiency of vitamin-A. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Pityriasis Rubra Pilaris is a rare disorder which affects children and adults. Males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Pityriasis Rubra Pilaris. Comparisons may be useful for a differential diagnosis: Lichen Planus is a recurrent, itchy, inflammatory eruption characterized by small separate, angular spots that may combine into rough scaly patches. It is often accompanied by lesions in the mouth. Women are most commonly affected, although some cases have begun during childhood. The exact cause of this disorder is unknown, though some minerals such as bismuth, arsenic, gold, or exposure to certain chemicals used in developing color photographs may cause an eruption indistinguishable from Lichen Planus. (For more information on this disorder, choose "Lichen Planus" as your search term in the Rare Disease Database.) Pityriasis Rosea is a self-limited, mild, inflammatory skin disorder characterized by scaly lesions found most commonly on the trunk. The disorder is possibly due to an unidentified infectious agent. It may occur at any age but is seen most frequently in young adults. In temperate climates, incidence is highest during spring and autumn. Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots (papules) or plaques on the scalp, elbows, knees and/or the buttocks. (For more information on this disorder, choose "Psoriasis" as your search term in the Rare Disease Database.) Therapies: Standard Pityriasis Rubra Pilaris may respond to treatment with vitamin-A, either orally or in alcohol as an ointment. Retinoid drugs such as isotretinoin which are chemically related to vitamin A, and the antineoplastic drug methotrexate may also be prescribed. The lesions often get better or worse without treatment, waxing and waning naturally. DDAVP in the injectable form is standard treatment for von Willebrand Disease. It is an antidiuretic peptide manufactured by Rorer Pharmaceuticals. Therapies: Investigational Research on Pityriasis Rubis Pilaris is being conducted at New York University Medical Center. For information about this research, please contact: Irwin M. Freedberg, M.D. NYU Medical Center Dept. of Dermatology 550 First Ave. New York, NY 10016 (212) 340-5245 This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pityriasis Rubra Pilaris, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.) P.O. Box 20921 Raleigh, NC 27619-0921 (919) 782-5728 (800) 545-3286 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CHILDHOOD-ONSET PITYRIASIS RUBRA PILARIS WITH IMMUNOLOGIC ABNORMALITIES: D. Shvili, et al.; Pediatr Dermatol (May 1987: issue 4(1)). Pp. 21-23. PITYRIASIS RUBRA PILARIS, VITAMIN A AND RETINOL-BINDING PROTEIN: A CASE STUDY: P.C. van Voorst Vader, et al.; Acta Derm Venereol (Stockholm) (1984: issue 64(5)). Pp. 430-432. ISOTRETINOIN TREATMENT OF PITYRIASIS RUBRA PILARIS: C.H. Dicken; Journal Am Acad Dermatol (February 1987: issue 16(2 Part 1)). Pp. 297-301. Pityriasis Rubra PilarisY pagetitle 475: Pityriasis Rubra Pilaris 04112.TXT pagetitle 725: Pneumonia, Eosinophilic Copyright (C) 1989 National Organization for Rare Disorders, Inc. 725: Pneumonia, Eosinophilic _________________________ ** IMPORTANT ** It is possible that the main title of the article (Eosinophilic Pneumonia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Pulmonary Infiltrates with Eosinophilia Syndrome Loffler's Syndrome Allergic Bronchopulmonary Aspergillosis Information on the following diseases can be found in the Related Disorders section of this report: Tuberculosis Sarcoidosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Eosinophilic pneumonia is a disorder characterized by an inflammation of the lungs and an abnormal increase in the number of certain white blood cells (eosinophils) in the lymph nodes, lungs and blood. This disorder is usually associated with allergic conditions and various parasitic infections. Symptoms Eosinophilic pneumonia usually has a sudden onset. There may be accompanying weight loss and increased pulse rate. Symptoms may also include low-grade fever, cough with the possibility of blood in the phlegm, wheezing and labored breathing. There may also be chills, sweating, pain in the chest and a general feeling of ill health. Children with eosinophilic pneumonia may have enlargement of the spleen and liver. The symptoms of eosinophilic pneumonia may be mild or severe, depending upon the amount of lung area affected. Many patients simultaneously have bronchial asthma. A specific type of eosinophilic pneumonia called allergic bronchopulmonary aspergillosis tends to affect individuals with asthma. Those affected usually show a worsening of asthmatic symptoms, and may have a low-grade fever and phlegm containing brownish flecks. Causes Most of the eosinophilic pneumonias are of unknown cause. Some cases are caused by parasites including roundworms and Toxocara larvae. Other cases are associated with allergies, particularly to drugs such as penicillin, aminosalicylic acid, hydralazine, nitrofurantoin, chlorpropamide, or sulfonamide. Fungi such as Aspergillus fumigatus, and chemical sensitizers such as nickel carbonyl inhaled as a vapor, may also be possible causes. Allergic bronchopulmonary aspergillosis occurs as a result of an allergic reaction to the fungus Aspergillus fumigatus. Affected Population Eosinophilic pneumonia may affect anyone. However, it tends to occur most often in young men. One specific form of this disorder, allergic bronchopulmonary aspergillosis, occurs in individuals with asthma. Related Disorders Symptoms of the following disorders can be similar to those of eosinophilic pneumonia. Comparisons may be useful for a differential diagnosis: Tuberculosis is an acute or chronic bacterial infection found most commonly in the lungs. The infection is spread like a cold, mainly through airborne droplets breathed into the air by an infected person. Symptoms include labored breathing, fever, loss of appetite, weight loss, weakness and dry cough occasionally with blood in the phlegm. (For more information on this disorder, choose "Tuberculosis " as your search term in the Rare Disease Database). Sarcoidosis is a disorder which affects many body systems. It is characterized by small round lesions composed of grainy tissue. Symptoms of lung infiltration include cough and difficulty breathing. (For more information on this disorder, choose "Sarcoidosis" as your search term in the Rare Disease Database). There are many other types of pneumonia caused by bacteria or virus. In general the symptoms of pneumonia are similar to eosinophilic pneumonia, so diagnostic tests determine which type a patient has. Therapies: Standard Eosinophilic pneumonia may be self-limiting, requiring no treatment. However, symptoms may persist or disappear spontaneously and recur periodically. If symptoms are severe, corticosteroid drugs such as prednisone may be administered. Treatment with diethylcarbamazine has also proven to be successful. Those cases which are caused by parasitic worms are treated with appropriate antiparasitic drugs. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Eosinophilic Pneumonia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road NE Atlanta, GA 30333 (404) 329-3534 References THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 689-690. ACUTE EOSINOPHILIC PNEUMONIA: A HYPERSENSITIVITY PHENOMENON? D.B. Badesch et al.; AM REV RESPIR DIS (January, 1989; issue 139(1): Pp. 249-252.) CERBROSPINAL FLUID EOSINOPHILIA AND STERILE SHUNT MALFUNCTION. V.C. Traynelis et al.; NEUROSURGERY (November, 1988; issue 23(5): Pp. 645-649.) Pneumonia, Eosinophilic 04113.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 648: Pneumonia, Interstitial _________________________ ** IMPORTANT ** It is possible that the main title of the article (Interstitial Pneumonia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Chronic Fibrous Pneumonia Disorder Subdivisions: Usual Interstitial Pneumonia (UIP), also known as Idiopathic Interstitial Pneumonia or Fibrous Interstitial Pneumonia Desquamative Interstitial Pneumonia (DIP) Giant-cell Interstitial Pneumonia (GIP) Lymphoid Interstitial Pneumonia (LIP) Information on the following diseases can be found in the Related Disorders section of this report: Fibrosing Alveolitis Extrinsic Allergic Alveolitis Idiopathic Pulmonary Fibrosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Interstitial Pneumonia, involving the spaces and tissue (interstices) of the lungs, is a type of primary pneumonia. It involves an abnormal increase in the interstitial tissue and a decrease and hardening (induration) of other lung tissue. Major symptoms may include shortness of breath on exertion, cough (which may or may not be present) and loss of appetite. Symptoms Symptoms of Interstitial Pneumonia may vary from mild to severe according to the extent of lung involvement, accumulation of tissue and cells not normally found in the lungs (infiltrate), the rate of progress, and the presence of complications (such as other lung infections). The patient often has no fever (afebrile). Occasionally, however, the onset may be rapid, with fever, suggesting an acute respiratory infection. Symptoms of lung disease may be few, except for shortness of breath on exertion (exertional dyspnea). Cough is not normally a prominent feature nor is overproduction of mucous; these symptoms are more likely to be present when there is a secondary airway (bronchial) infection. Blue coloring of the skin, fingernails and around the lips (cyanosis) may occur, signaling a low level of oxygen in the blood. Loss of appetite (anorexia), weight loss, fatigue, weakness, and vague chest pains may also be present. DISORDER SUBDIVISIONS The following disorders are different types of interstitial pneumonias: In Usual (or Idiopathic) Interstitial Pneumonia (or Fibrous) a pattern of cellular accumulations (infiltrate), considerable scarring (fibrosis) and destruction of the air cells (alveoli) accompanies an inflammatory reaction. Usual Interstitial Pneumonia (UIP) probably represents a late stage interstitial disease. Desquamative Interstitial Pneumonia (DIP) is characterized by a marked increase in alveolar cells with a small amount of scarring (minimal interstitial fibrosis). It is generally viewed as a type of inflammation of the alveoli (alveolitis) which can be caused by a variety of factors. It may also represent an early stage of idiopathic (unknown) pulmonary fibrosis. Discussion continues on whether these tissue changes represent different diseases or "stages" of the same disease. Scientific evidence supports both views. Lymphoid Interstitial Pneumonia (LIP) maybe an autoimmune disease. Autoimmune diseases occur when the body's natural defenses, such as antibodies begin to attack healthy tissues. This type of interstitial pneumonia also includes lymph system (lymphomatous) changes. Some cases of Giant Cell Interstitial Pneumonia (GIP) are known to be associated with exposure to hard metals particularly tungsten and cobalt. Causes The causes of the different interstitial pneumonias are not well understood. Each type can be precisely diagnosed by the study of the lung tissue (histology). Unlike many other types of pneumonia, the interstitial pneumonias do not appear to be caused by bacteria. Affected Population Interstitial Pneumonia affects slightly more men than women. It has generally been reported within an age range between 12 and 63 years. Related Disorders Symptoms of the following disorders can be similar to those of Interstitial Pneumonia. Comparisons may be useful for a differential diagnosis: Fibrosing Alveolitis is an inflammatory lung disorder characterized by abnormal formation of fibrous tissue between the alveoli or ducts in the lungs. Coughing and cyanosis may occur. (For more information on this disorder, choose "Alveolitis, Fibrosing" as your search term in the Rare Disease Database). Extrinsic Allergic Alveolitis is a lung disorder resulting from repeated inhalation of organic dust, usually in a work setting. (For more information on this disorder, choose "Alveolitis, Extrinsic Allergic" as your search term in the Rare Disease Database). Idiopathic Pulmonary Fibrosis is an inflammatory disease of the lung tissue characterized by cellular infiltration, an interstitial thickening, and may involve the alveoli, blood vessels, airways (bronchi) and membranes surrounding the lungs (pleura). The cause is unknown. Therapies: Standard Treatment of Interstitial Pneumonia is usually with corticosteroid drugs in patients who have no evidence of extensive fibrosis. Oxygen may be prescribed in cases of lack of oxygen levels in the blood (hypoxemia). Antibiotics are required if secondary bacterial infection occurs. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Interstitial Pneumonia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212)315-8700 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 661. PULMONARY DISEASES AND DISORDERS, 2nd. Ed.: Alfred P. Fishman, M.D.; McGraw-Hill, Inc., 1988. Pp. 739, 959, 1380, 756, 1684. GIANT CELL INTERSTITIAL PNEUMONIA IN A HARD-METAL WORK. CYTOLOGIC, HISTOLOGIC AND ANALYTICAL ELECTRON MICROSCOPIC INVESTIGATION. V.L. Roggli, et. al.; Acta Cytol. (Mar-Apr, 1988, issue 32(2)). Pp. 240-6. DESQUAMATIVE INTERSTITIAL PNEUMONIA. COMPUTED TOMOGRAPHIC FINDINGS BEFORE AND AFTER TREATMENT WITH CORTICOSTEROIDS. S. Vedal, et. al.; Chest. (Jan., 1988, issue 93(1)). Pp. 215-7. LYMPHOCYTIC INTERSTITIAL PNEUMONIA. A.S. Teirstein, et. al.; Clin Chest Med. (Sep., 1988, issue 9(3)). Pp. 467-71. Pneumonia, Interstitial pagetitle 648: Pneumonia, Interstitial 04114.TXT Copyright (C) 19910 National Organization for Rare Disorders, Inc. 789: POEMS Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (POEMS Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Crow-Fukase Syndrome Shimpo's Syndrome Takatsuki's Syndrome PEP Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Scleroderma Castleman's Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. POEMS Syndrome is an acronym for Polyneuropathy (a disease of many nerves), Organomegaly (the enlargement of an organ), Endocrinopathy (a functional disorder of an endocrine gland), M protein (monoclonal immunoglobin, a type of antibody), and Skin changes. Symptoms Each letter of POEMS Syndrome stands for the following symptoms: Polyneuropathy is a disease of many nerves that causes tingling, numbness, burning pain, deficiencies in perception and vibratory sensations usually in the limbs. Organomegaly may affect any organ such as enlargement of the spleen (splenomegaly) or enlargement of the liver and the spleen (hepatosplenomegaly). Disease of the endocrine system may affect any endocrine gland (a gland that secretes hormones directly into the blood stream). Deficient secretion of the thyroid hormones (hypothyroidism) may occur. Sexual functioning may be affected in POEMS Syndrome due to dysfunction of hormone secreting glands. Adrenal secretion of hormones may also be insufficient. Elevated levels of M protein are usually found in the blood. Skin manifestations may include increased pigmentation (hyperpigmentation) and thickened skin resembling Scleroderma (see Related Disorders section of this report). Swelling of the lymph nodes (adenopathy) may also occur. An abnormal accumulation of fluid (edema) in the abdominal cavity (ascites), in connective tissue (anasarca), or in cells and tissues may also occur. Most of the patients have a malignant bone marrow disease called Multiple Myeloma. Abnormal proteins are usually present in the plasma. (For more information on this disorder, choose "Multiple Myeloma" as your search term in the Rare Disease Database.) Causes The exact cause of POEMS Syndrome is not known. It has been suggested that it may be an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack perfectly healthy tissue for unknown reasons. The abnormal proteins from the multiple myeloma tumor is another possible cause for this multi-system disease. Affected Population POEMS Syndrome is a rare disorder affecting males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of POEMS Syndrome. Comparisons may be useful for a differential diagnosis: The skin changes of POEMS Syndrome are similar to Scleroderma. Scleroderma refers to a group of disorders characterized by the formation of fibrous tissue (fibrosis), degenerative changes, and vascular abnormalities in the skin. Scleroderma is the slow and continued (chronic) hardening and shrinking of the connective tissues of any part of the body. The skin may have firm violet patches with ivory/yellow centers, small chalk-white spots with or without a violet margin, tight glossy skin, or band-like strips of thickened skin. The internal organs may also be involved in some forms of Scleroderma. The exact cause is unknown. (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). The enlarged lymph nodes in POEMS Syndrome are very similar to Castleman's Disease. Castleman's Disease is a rare disorder of the lymphatic system characterized by noncancerous (benign) growths in lymph node tissue. The veins may be involved, causing a growth in the blood vessels themselves. Major symptoms may include development of a tumor, respiratory tract infections, coughing, lethargy, pressure or pain in the back and chest, difficulty in breathing, coughing up blood, and fever. The exact cause of Castleman's Disease is unknown, but it is thought to be an autoimmune disease. (For more information on this disorder, choose "Castleman's" as your search term in the Rare Disease Database). Therapies: Standard Treatment of POEMS Syndrome involves immunosuppressive drugs such as melphalan and prednisone. Therapies: Investigational Plasmapheresis may be of benefit in some cases of POEMS Syndrome. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts such as antibodies and abnormal proteins) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of POEMS Syndrome. This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on POEMS Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Arthritis, Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References POEMS SYNDROME PRESENTING AS SYSTEMIC SCLEROSIS. CLINICAL AND PATHOLOGIC STUDY OF A CASE WITH MICROANGIOPATHIC GLOMERULAR LESIONS: J.P. Viard et al.; Am J Med (March, 1988, issue 84 (3 part 1). Pp. 524-8. THE SKIN CHANGES IN THE CROW-FUKASE (POEMS) SYNDROME. A CASE REPORT: W.B. & E.D. Shelley; Arch Dermatol (January, 1987, issue 123 (1)). Pp. 85-7. POEMS Syndrome] pagetitle 789: POEMS Syndrome 04115.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 440: Poland Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Poland Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Poland Syndactyly Poland Anomaly General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Poland Syndrome is a congenital developmental disorder which is thought to be genetic. Major symptoms occur on one side of the body and include absence of chest muscles and/or ribs, underdevelopment of the arm, wrist and hand, and shortened, webbed fingers. Function of the affected arm may be limited. Symptoms Poland Syndrome is characterized by an abnormal development of one side of the chest, including the arm and hand of the same side. One or more chest muscles are partially or completely absent with underdevelopment or absence of the breast and/or nipple. The cartilage and ribs in the area are absent or abnormally developed. The hand, arm, forearm, and wrist are also underdeveloped, and the fingers are shortened and webbed. An unusually deep crease is present in the palm of the hand. The right side of the body is usually the site of the abnormality. Causes The exact cause of Poland Syndrome is not known. Some medical researchers believe it is genetic, although the mode of transmission is not understood. Other researchers believe the disorder occurs sporadically, perhaps as a mutation. Symptoms may develop due to developmental arrest during the seventh to eighth week of fetal life characterized by failure of attachment of chest muscles to the embryonic chest wall. Affected Population Poland Syndrome affects males and females in equal numbers. In a Canadian study, researchers found the incidence to be one in 32,000 live births. The name of the syndrome should not suggest that the illness primarily affects Polish children; rather it was named for the doctor that identified it in 1921. Therapies: Standard Treatment of Poland Syndrome involves reconstructive surgery to replace the absent chest muscles. Implants may produce good cosmetic results. The hand abnormalities may be surgically corrected and ribs may be grafted into place with good results. Therapies: Investigational This disease entry is based upon medical information available through October 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Poland Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information, contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References EARLY RECONSTRUCTION OF POLAND'S SYNDROME USING AUTOLOGOUS RIB GRAFTS COMBINED WITH A LATISSIMUS MUSCLE FLAP: J.A. Haller, Jr., et al.; J Pediatr Surg (August 1984, issue 19(4)). Pp. 423-429. POLAND'S SYNDROME: CORRECTION OF THORACIC ANOMALY THROUGH MINIMAL INCISIONS: P. Santi, et al.; Plast Reconstr Surg (October 1985, issue 76(4)). Pp. 639-641. EARLY CORRECTION OF THE THORACIC DEFORMITY OF POLAND'S SYNDROME IN CHILDREN WITH THE LATISSIMUS DORSI MUSCLE FLAP: LONG-TERM FOLLOW-UP OF TWO CASES: H. Anderl, et al.; Br J Plast Surg (April 1986, issue 39(2)). Pp. 167-172. Poland Syndrome AC pagetitle 440: Poland Syndrome 04116.TXT Copyright (C) 1989, 1993 National Organization for Rare Disorders, Inc. 666: Polyarteritis Nodosa _________________________ ** IMPORTANT ** It is possible that the main title of the article (Polyarteritis Nodosa) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PAN Periarteritis Polyarteritis Information on the following diseases can be found in the Related Disorders section of this report: Wegener's Granulomatosis Churg-Strauss Syndrome Takayasu's Arteritis Giant Cell Arteritis Cogan's Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polyarteritis Nodosa is characterized by an inflammation of the arteries causing narrowing of the vessels. This may result in lack of blood supply to tissues, possible formation of blood clots (thrombosis), and weakening, ballooning (aneurysm) or possible rupture of vessel walls. Symptoms Polyarteritis Nodosa affects the arteries. Joint, muscle, abdominal and testicular pain may occur. The patient may also have fever, weight loss and high blood pressure (hypertension). The kidney is the organ most often involved. The lungs are rarely affected. Skin rash may be present and gastrointestinal symptoms such as abdominal pain, vomiting of blood (hematemesis) and tender abdomen may be present. Causes The exact cause of Polyarteritis Nodosa is not known. In the majority of patients no predisposing cause has been found. Unidentified bacterial and/or viral infections may be a cause. Polyarteritis Nodosa has been observed in drug abusers, particularly those using amphetamines, and in patients with Hepatitis B (infection of the liver). (For more information on this disorder, choose "Hepatitis B" as your search term in the Rare Disease Database.) This disorder has also been linked to an allergic reaction to some drugs and vaccines. Most scientists believe that Polyarteritis Nodosa is an autoimmune disease. Autoimmune disorders are caused when the body's natural defenses against invading organisms (antibodies) suddenly begin to attack perfectly healthy tissue. Treatment of Polyarteritis Nodosa usually involves drugs that alter the immune system. Recent research suggests that a bacterial infection may initially trigger onset of Polyarteritis Nodosa causing an abnormal immune response to infection. Affected Population Polyarteritis Nodosa usually affects people between 40 to 50 yrs. of age, but it may occur in any age group. It affects approximately 1 in 100,000 people. Men appear to be affected two to three times more often than women. Related Disorders Symptoms of the following disorders can be similar to those of Polyarteritis Nodosa. Comparisons may be useful for a differential diagnosis: Wegener's Granulomatosis occurs in the 4th or 5th decade of life and has a slight male preponderance. It typically involves the upper and lower respiratory tracts and kidney. This disorder usually progresses into a generalized inflammation of the blood vessels and kidney. (For more information on this disorder, choose "Wegener" as your search term in the Rare Disease Database). Churg-Strauss Syndrome is a lung disorder often occuring as a complication of other disorders. Allergic blood vessel inflammation (angiitis or vasculitis) is usually accompanied by many inflammatory nodular lesions. (For more information on this disorder, choose "Churg-Strauss" as your search term in the Rare Disease Database). Takayasu Arteritis (Aortic Arch Syndrome) is an inflammation of the walls of large and midsized arteries followed by fibrosis and thickening. It affects mainly women. (For more information on this disorder, choose "Takayasu" as your search term in the Rare Disease Database). Giant Cell Arteritis is a disease that affects the large arteries and occasionally the small ones. Cranial arteries are often affected causing headaches, and scalp tenderness. (For more information on this disorder, choose "Giant Cell Arteritis" as your search term in the Rare Disease Database). Cogan's Syndrome is a very rare polyarteritis-type disorder. It is characterized by interstitial keratitis, vertigo, tinnitus, and hearing loss. This is often associated with other systemic disease symptoms such as: congestive heart failure, intestinal hemorrhage, enlarged spleen, high blood pressure, and muscle and bone symptoms. Treatment may consist of the use of corticosteroid drug therapy and when started early in the disease can result in clearing of inflammed eyes and in hearing recovery. Other symptoms may respond to treatment specific to that disorder. Cogan's Syndrome can occur at any age and affects men and women equally. Therapies: Standard Treatment of Polyarteritis Nodosa usually consists of the use of corticosteroid drugs, such as Prednisone, to suppress the immune system and relieve inflammation. Cyclophosphamide has also been used to suppress the immune system. Treatment for control of hypertension may also be indicated. Surgical intervention is sometimes required in cases of gastrointestinal involvement. Other treatment is symptomatic and supportive. Therapies: Investigational Plasmapheresis may be of benefit in some cases of Polyarteritis Nodosa. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Polyarteritis Nodosa. The National Institute of Allergy and Infectious Diseases is conducting a study on a treatment for Polyarteritis Nodosa. Patients who wish to participate in the clinical trials must be at least 14 years of age and had a recent onset of illness. For further information, physicians may contact: Dr. Gary S. Hoffman or Dr. Randi Y. Levitt NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-1124 This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polyarteritis Nodosa, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 856., 857, 1282-1284. PULMONARY DISEASES AND DISORDERS, 2nd Ed.: A.P. Fishman, M.D.; McGraw-Hill, 1988. Pp. 1127-28. CLINICAL FINDINGS AND PROGNOSIS OF POLYARTERITIS NODOSA AND CHURG-STRAUSS ANGIITIS; A STUDY IN 165 PATIENTS. L. Guillevin, et al.; Br. J. Rheumatology, Aug. 1988., (issue 27(4)). Pp. 258-64. IMMUNOSUPPRESSIVE AND CORTICOSTEROID THERAPY OF POLYARTERITIS NODOSA. E.S. Leib, et al.; Am. J. Med., Dec., 1979 (issue 67(6)). Pp. 941-7. Polyarteritis Nodosac f pagetitle 666: Polyarteritis Nodosa 04117.TXT Copyright (C) 1988, 1989, 1991 National Organization for Rare Disorders, Inc. 561: Polychondritis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Polychondritis) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Chronic Atrophic Polychondritis Relapsing Polychondritis Relapsing Perichondritis Generalized or Systemic Chondromalocia von Meyenburg Disease Meyenburg-Altherr-Uehlinger Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Rheumatoid Arthritis Osteoarthritis Behcet Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polychondritis is a rare degenerative disease characterized by recurrent inflammation of the cartilage in the body. Deterioration of the cartilage may affect any site of the body where cartilage is present. Ears, larynx and trachea may become "floppy", and the bridge of the nose can collapse into a "saddlenose" shape. The aortic heart valve may be involved as well. Symptoms Symptoms of Polychondritis usually begins with the sudden onset of pain, tenderness and swelling of the cartilage of one or both ears. This inflammation may spread to the fleshy portion of the outer ear causing it to narrow. Attacks may last several days to weeks before subsiding. Middle ear inflammation can cause obstruction of the eustachian tube. Recurrent attacks may lead to hearing loss. Nasal Chondritis may be marked by cartilage collapse at the bridge of the nose resulting in a saddlenose deformity, nasal stuffiness or fullness and crusting. Inflammation of both large and small joints can occur. Classic symptoms of pain and swelling are similar to those of arthritis. Involvement of the cartilage of the larynx and bronchial tubes may cause breathing and speech difficulties. Heart valve abnormalities may occur. Polychondritis may also cause kidney inflammation and dysfunction. Causes The exact cause of Polychondritis is not known. It is thought to be an autoimmune disease. Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms begin to attack perfectly healthy tissue. Some cases may be linked to abnormal reactions by blood cells (serum antibodies), to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal cells, or thyroid. Symptoms of polychondritis may arise when autoantibodies attack human cartilage. Some researchers believe that relapsing Polychondritis may be caused by an immunologic sensitivity to type II collagen, a normal substance found in skin and connective tissue. Affected Population Polychondritis affects males and females in equal numbers. Symptoms usually begin between forty and sixty years of age. Related Disorders Symptoms of the following disorders can be similar to those of polychondritis. Comparisons may be useful for a differential diagnosis: Rheumatoid Arthritis is a disease of unknown origin which may have a relationship to autoimmune processes. This disorder is characterized by lack of appetite (anorexia), tiredness, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. Once affected, a patient's joints remain painful or uncomfortable for weeks, months, or even years. Osteoarthritis is a degenerative joint disease of unknown origin characterized by loss of cartilage, deformities of bones with joints, and extra cartilage and bone growth at the joint margins with subsequent bony enlargement. Osteoarthritis develops when cartilage repair does not keep pace with degeneration. It may occur as a result of trauma to the bony or underlying joint disease. Behcet Syndrome is an inflammatory disorder affecting a number of organs. The most constant symptom is of oral and genital ulcers. Eye and joint inflammation, similar to Polychondritis, occurs. Blood vessels, the central nervous system, and the gastrointestinal tract may also be involved. Attacks last a week to a month, and can recur spontaneously. Some symptoms can appear as late as several years after onset of the disease which usually occurs between age 20 and 30. Twice as many men as women are affected. The disease is most common in the Middle East and Japan. For more information on the above disorder, choose "Behcet" as your search term in the Rare Disease Database. Therapies: Standard Treatment of polychondritis usually involves the administration of corticosteroid drugs, aspirin and non-steroidal anti-inflammatory compounds. In extreme cases, drugs that suppress the immune system such as cyclophosphamide, 6-mercaptopurine and azathioprine may be recommended. In the most severe cases replacement of heart valves or the insertion of a breathing tube (tracheotomy) for collapsed airways may be necessary. Therapies: Investigational Some cases of Polychondritis may go into remission after use of the immune suppressing drug cyclosporine-A. However, more research is necessary to determine complete safety and effectiveness of this treatment. This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polychondritis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Polychondritis & Rheumatoid Arthritis Clinic David Trentham, M.D., Chief, Division of Rheumatology Beth Israel Hospital 330 Brookline Ave. Boston, MA 02215 (617) 735-2560 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Arthritis Foundation 1314 Spring St, NW Atlanta, Ga. 30309 (404) 872-7100 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 631, 664, 1311. TEXTBOOK OF RHEUMATOLOGY, Kelly, 1988. Chapter 84, Polychondritis, Jerome H. Herman, Pp. 2-31. CARDIAC INVOLVEMENT IN RELAPSING POLYCHONDRITIS: A. Balsa-Criado, et al.; Int J Cardiol (March, 1987, issue 14 (3)). Pp. 381-383. RELAPSING POLYCHONDRITIS. SURVIVAL AND PREDICTIVE ROLE OF EARLY DISEASE MANIFESTATIONS: C.J. Michet, et al.; Ann Intern Med (January, 1986, issue 104 (1)). Pp. 74-78. PULMONARY FUNCTION IN RELAPSING POLYCHONDRITIS: W. S. Krell, et al.; Am Rev Respir Dis (June, 1986, issue 133 (6)). Pp. 1120-1123. Polychondritis pagetitle 561: Polychondritis 04118.TXT )n)Copyright (C) 1986, 1987, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 237: Polycystic Kidney Diseases _________________________ ** IMPORTANT ** It is possible the main title of the article (Polycystic Kidney Diseases) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Polycystic Renal Diseases DISORDER SUBDIVISIONS Infantile Polycystic Kidney Disease Juvenile Polycystic Kidney Disease Adult Polycystic Kidney Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polycystic Kidney Diseases are inherited disorders that are characterized by many cysts in both kidneys (bilateral). This causes enlargement of the total kidney size, while reducing the functional kidney tissue by compression. Symptoms There are two forms of this disorder, one affecting children and another affecting adults. The onset of the Infantile form of Polycystic Kidney Disease is soon after birth. It is an autosomal recessively inherited disease. The abdomen is enlarged and the kidneys are palpable. Infants with this disorder often suffer from dehydration and emaciation. In the juvenile form of Polycystic Kidney disease, fibrosis of the liver often occurs. It is frequently associated with high blood pressure (hypertension) and an enlarged spleen. The adult form of Polycystic Kidney disease is an autosomal dominant inherited disorder which progresses to renal insufficiency in middle age. In this type of the disorder, clinical symptoms usually develop after the second decade of life. Symptoms are usually related to pressure effects of the cysts and include discomfort or pain in the loin (lumbar) area, blood in the urine (hematuria), infection, and colic. A loss of kidney function may occur resulting in accumulation of by-products of protein metabolism in the blood (uremia). In addition, chronic infection of the kidney can occur contributing to a progressive loss of kidney function. In about one third of cases, cysts are present in the liver, but they are of no functional significance. There is also a high associated incidence of localized widening of arteries inside the skull (intracranial aneurysms). Hypertension is found in about half of the patients at the time of diagnosis. The spleen is often enlarged. Although approximately one half of patients with Polycystic Kidney Disease develop kidney failure (uremia) within ten years after onset of symptoms, the course of the disorder is quite variable and many patients will go for more than 20 years before renal failure occurs. Complications of hypertensive cardiovascular disease occur at an average age of 50 years. Causes The infantile form of Polycystic Kidney disease as an autosomal recessively inherited disorder. The adult form is inherited as an autosomal dominant trait. This dominant form of Polycystic Kidney Disease has been found to be caused by more than one defective gene. The defective genes are so closely linked on the short arm of chromosome 16 that they are usually inherited together. Only about five percent of people with the disorder do not inherit the genes together. These variations can account for clinical differences in patients with the disorder. In cases where Polycystic Kidney Disease is caused by a mutation, onset of the disorder occurs much later in life. Scientists hope that these discoveries will help them identify carriers before the disease has had a chance to develop. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Unlike standard dominant disorders, Polycystic Kidney Disease can involve more than one dominant gene on the same chromosome. In 1985, medical investigators reported that chromosome 16 carries the defective genes responsible for the autosomal dominant form of Polycystic Kidney Disease. Affected Population Polycystic Kidney Disease affects approximately 500,000 Americans. This disorder comprises eight to ten percent of cases of end stage renal (kidney) disease (ESRD), which is a leading cause of kidney failure in the United States. Related Disorders Medullary Cystic Disease is a diffuse kidney disorder which appears in children and young adults. It is characterized by the gradual appearance of urea and other by-products of protein breakdown in the blood. (For more information on Medullary Cystic Disease, choose Medullary Cystic Disease as your search term in the Rare Disease Database.) Medullary Sponge Kidney is characterized by dilatation of the terminal collecting ducts in the kidney. Often small calcium oxalate stones appear in the ducts. (For more information on this disorder, choose "sponge" as your search term in the Rare Disease Database). Glomerular Cystic disease is very similar to PKD, but the liver and spleen are normal in patients with glomerular cystic disease. Therapies: Standard Treatment of Polycystic Kidney disease consists of management of urinary infections and secondary hypertension. Genetic counseling to families with the disorder is recommended. When uremia occurs it is managed by an increase in intake of calories combined with a reduction in total content of dietary protein. It is important that sufficient carbohydrates and fat are provided to meet energy requirements. With dialysis, patients with Polycystic Kidney disease regain a normal red cell volume in the blood (hematocrit). Transplantation of a kidney is sometimes indicated, but the use of parental and sibling donors may be impractical in view of the familial characteristics of the disease. Magnetic Resonance Angiography (MRA) may be used for screening of intracranial aneurysms in patients with autosomal dominant Polycystic Kidney Disease. This screening is typically used on patients with a family history of intracranial aneurysm, those who have symptoms that suggest an intracranial aneurysm, patients who have elective surgery and/or those who are in high-risk occupations. Therapies: Investigational Calcium Acetate is a new orphan drug being used in the treatment of hyperphosphatemia in end stage renal disease (ESRD). It is manufactured by Pharmedic Co., 130 Exmoor Ct., Deerfield, IL 60015. Research on Autosomal Recessive Polycystic Kidney Disease (ARPKD) that affects children is being pursued by the following research team: Lisa M. Guay-Woodford, M.D. Norman D. Rosenblum, M.D. Kathy L. Jabs, M.D. William E. Harmon, M.D. E. William Harris, Jr., M.D., Ph.D. The Division of Nephrology The Children's Hospital 300 Longwood Ave. Boston, MA 02115 (617) 735-6129 Clinical trials are underway to study intracranial aneurysms in autosomal dominant Polycystic Kidney Disease. Interested persons may wish to contact: William D. Kaehny, M.D. Box C83, University of Colorado Health Science Center 4200 E. Ninth Ave. Denver, CO 80262 (303) 270-7821 to see if further patients are needed for this research. This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polycystic Kidney Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Polycystic Kidney Disease Research Foundation 20 West Ninth Street Kansas City, MO 64105 (816) 421-1869 National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 The National Kidney Foundation 2 Park Ave. New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) National Association of Patients on Hemodialysis and Transplantation 150 Nassau Street New York, NY 10038 (212) 619-2720 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 148, 506, 644-7. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1630. THE DIAGNOSIS AND PROGNOSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE, Patrick S. Parfrey, M.D., et al.; n Eng J Med (October 18, 1990, issue 323, (16)). Pp. 1085-1090. Polycystic Kidney Diseases *pagetitle 237: Polycystic Kidney Diseases 04119.TXT Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc. 665: Polycystic Liver Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Polycystic Liver Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PLD PCLD Information on the following diseases can be found in the Related Disorders section of this report: Solitary Cysts Caroli Syndrome Echinococcal Cysts Neoplastic Cysts General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polycystic Liver Disease (PLD) is an inherited disorder characterized by many cysts in the liver. Abdominal discomfort from swelling of the liver may occur; however, most patients do not have any symptoms. Symptoms Polycystic Liver Disease is characterized by a few to many cysts in the liver ranging from a few millimeters to over 15 cm in diameter. Symptoms rarely occur although the liver gradually enlarges as it is replaced by cysts. Abdominal discomfort may occur due to the stretching of the liver. Fever may also occur if the cysts break due to infection or bleeding into a cyst. Rarely, yellowing of the skin (jaundice) may occur if the bile ducts are compressed by a cyst. High blood pressure in the portal system (blood flow from the intestines to the liver) occurs only if the portal vein is compressed by a cyst. Liver function is generally unaffected if the liver has only a few cysts or small cysts. Fifty percent of PLD patients have cysts in their kidneys. Rarely, cyst-like lesions can occur in the pancreas, lungs, spleen, and other organs. Causes Polycystic Liver Disease is inherited as an autosomal dominant trait. Liver cysts may also occur as a result of abnormally developed bile ducts in the fetus. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Polycystic Liver Disease (PLD) affects males and females in equal numbers. PLD may occur at any age; however, cysts are less common during childhood. Related Disorders Symptoms of the following disorders can be similar to those of Polycystic Liver Disease. Comparisons may be useful for a differential diagnosis: Solitary cysts of the liver are most often present in the right part of the liver. They may contain a few milliliters or more than a liter of fluid. Most cysts cause no symptoms. Among patients that do have symptoms, the most common are abdominal discomfort, nausea, and vomiting. Caroli Syndrome is a rare congenital liver disorder characterized by enlargement (dilation) of the bile ducts inside the liver. If symptoms occur, the most common are abdominal pain, fever, and yellowing of the skin (jaundice). Caroli Syndrome occurs because of abnormal prenatal development. (For more information on this disorder, choose "Caroli" as your search term in the Rare Disease Database). The parasitic tapeworm Echinococcus may cause cysts in the liver. It is more common in central and eastern Europe and rare in the United States. The cyst of Echinococcus granulosus is usually solitary, located in the right part of the liver, and causes no symptoms. Echinococcus multilocularis may cause many cysts in the liver and may extend beyond it. A few patients may have abdominal pain or a slight swelling. Rupture of a cyst, infection, or an allergic reaction may occur as complications. Neoplastic cysts are called tumors which are abnormal tissue growths. There are two kinds: benign or malignant. Benign tumors may cause abdominal discomfort or bleeding within the sac that lines the abdominal cavity (peritoneum). Liver function is usually normal with benign tumors. Malignant tumors may cause loss of appetite, weight loss, pain, and fever. The liver may be enlarged, tender, and hard. Excess watery fluid in the spaces between the tissues and organs in the abdomen (ascites) may also occur. Yellowing of the skin (jaundice) is usually absent or mild but may worsen with time. Therapies: Standard Imaging machines such as Angiography, Magnetic Resonance Imaging (MRI), Computed Tomography (CT) Scan, and Ultrasound (US) can take pictures of the liver to see if cysts are present. No treatment may be necessary in many cases of Polycystic Liver Disease (PLD). Removal of the fluid in large cysts (aspiration) may be required in PLD patients with troublesome symptoms. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers are investigating several types of surgery that may be effective to treating large troublesome cysts in Polycystic Liver Disease. Unroofing, Fenestration, and Hepatectomy are being studied. Unroofing involves removing the membrane of the cyst and may also involve draining the fluid from the cyst. Fenestration involves creating an opening in the cyst and may also involve removing the cyst. Hepatectomy is the removal of part of the liver. This procedure is used for the most severe cases of Polycystic Liver Disease. Rarely, surgical intervention may be needed to treat portal high blood pressure when it occurs as a rare complication in Polycystic Liver Disease. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polycystic Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Liver Foundation 1425 Pompton Ave. Cedar Grove, N.J. 07009 (201) 857-2626 (800) 223-0179 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 Children's Liver Foundation 14245 Ventura Blvd. Sherman Oaks, CA 91423 (818) 906-3021 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 608. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 241. THERAPEUTIC DILEMMAS IN PATIENTS WITH SYMPTOMATIC POLYCYSTIC LIVER DISEASE: R.H. Turnage, et al.; Am Surg (June, 1988: issue 54(6)). Pp. 365-372. MASSIVE HEPATOMEGALY IN ADULT POLYCYSTIC LIVER DISEASE: M.K. Kwok & K.J. Lewin; Am J Surg Pathol (April, 1988: issue 12(4)). Pp. 321-324. Polycystic Liver Disease pagetitle 665: Polycystic Liver Disease 04120.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 236: Polycythemia Vera _________________________ ** IMPORTANT ** It is possible the main title of the article (Polycythemia Vera) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Primary Polycythemia Vaquez-Osler Disease Osler-Vaquez Disease Splenomegalic Polycythemia Erythremia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polycythemia Vera is a chronic proliferative disorder of the bone marrow. It is characterized by an increase in the number of red blood cells (erythrocytosis) and hemoglobin concentration in the blood. Symptoms Initial symptoms of Polycythemia Vera are fatigue, malaise, difficulty concentrating, headache, drowsiness, forgetfulness, and dizziness. Itchiness is present in 50% of patients, particularly after a hot bath. Redness of the skin may be seen, or patients may have normal skin color with only dusky redness of the mucous membranes. The retinal veins of the eyes may be dark red, full and tortuous. The spleen is usually palpable. Some patients do not have any obvious symptoms when Polycythemia is diagnosed. Causes The cause of Polycythemia Vera is not known. Related Disorders Leukemia is a generalized cancerous (neoplastic) disorder of the blood forming tissues, primarily of the white blood cell (leukocytic) type. Therapies: Standard The most common therapy for Polycythemia vera is removal of some blood from a vein (phlebotomy). This does not depress marrow function nor does it induce genetic mutation. Iron-deficiency anemia usually develops following repeated phlebotomy. Phlebotomy is less effective in patients with high iron absorption rates or greatly elevated platelet counts, and is inconvenient in patients with poor veins. Usually 3 to 6 phlebotomies are required to reduce the percentage of red blood cell volume in the blood (Hct) to less than 50%, returning the red blood cell number to normal. Elderly patients with advanced arteriosclerosis or a heart condition should have less blood removed at each phlebotomy. When phlebotomy is the only therapy, supplemental iron must not be prescribed since it tends to accelerate hemoglobin production. A low-iron diet is often impractical, but foods with very high iron content, such as clams, oysters, liver and legumes, should be avoided. Phlebotomy followed radiophosphorus (32P) therapy, produces clinical and hematologic remission in almost all patients. Remissions usually last 18 months, but vary from 6 months to several years. Fewer follow-up visits are often required and there are usually no immediate side effects. However, approximately 10% of patients treated with 32P develop acute leukemia, but this usually occurs after more than 10 years of treatment. Chemotherapy for Polycythemia Vera is no longer advised because it increases the risk of developing acute leukemia. An excess of uric acid in the blood (hyperuricemia) requires treatment with the drug allopurinol. Acute gouty arthritis can develop and it is treated in the same manner as primary gout; i.e., with colchicine or nonsteroidal anti-inflammatory drugs for patients who are intolerant of colchicine. Corticosteroids can produce rapid and complete remission in some patients, but generally are used only when other drugs are ineffective. Therapies: Investigational The FDA allows the use of the orphan drug Anagrelide for Polycythemia Vera on an experimental or investigational basis. This drug is manufactured by Roberts Pharmaceutical Corporation, Meridian Center III, 6 Industrial Way West, Eatontown, NH, 07724, (908) 389-1182. This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polycythemia Vera, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Myeloproliferative Research Center, Inc. 2220 Tiemann Ave. Baychester, NY 10469 (718) 231-0270 (800) MPD-HELP National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1138. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 973, 980-4. Polycythemia Vera ion e pagetitle 236: Polycythemia Vera 04121.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 256: Polymyalgia Rheumatica _________________________ ** IMPORTANT ** It is possible the main title of the article (Polymyalgia Rheumatica) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PMR Senile Rheumatic Gout Anarthritic syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polymyalgia Rheumatica is a disorder characterized by pain and stiffness in certain muscle groups without causing permanent weakness or atrophy. Symptoms The major symptoms of Polymyalgia Rheumatica (PMR) are pain and stiffness in the neck, shoulders, upper arms, low back, hips and thighs. The symptoms often come on quickly and the stiffness is most severe in the morning, causing difficulty getting out of bed. Difficulty in moving may also occur after long periods of sitting still. In some patients onset of the symptoms occurs very gradually. The pain of PMR is felt on both sides of the body. Fever, lack of appetite (anorexia), fatigue, weight loss and depression may also be present. In spite of the severe pain, examination of the muscles does not show any abnormality. A nonhemolytic anemia may be present in some patients. Causes The cause of Polymyalgia Rheumatica is not known. Affected Population Polymyalgia Rheumatica occurs most commonly in people over 50 years of age. Females are affected four times as often as males, and caucasian people are affected more frequently than other racial groups. Related Disorders Rheumatoid Arthritis is a chronic disorder characterized by nonspecific, inflammation of the peripheral joints, potentially resulting in progressive destruction of the joints. Giant Cell Arteritis (Temporal Arteritis; Cranial Arteritis; or Granulomatous Arteritis) is a chronic generalized inflammatory disease of the branches of the aortic arch (large arteries coming out of the heart). The disorder principally affects temporal and occipital arteries, but many develop in almost any large artery. The systematic symptoms of Giant Cell Arteritis are the same as those of PMR, to which it may be related. (For more information, choose "giant Cell Arteritis" and "arthritis" as your search terms in the Rare Disease Database.) Therapies: Standard The most effective drugs for treating PMR are the corticosteroids. Prednisone is most often prescribed. This treatment often results in rapid improvement within a few days after which the dosage is lowered and kept at a maintenance level for a few months to several years. Potential side effects of prednisone such as weight gain, thinning of the bones, depression, high blood pressure, cataracts, diabetes, increased risk of infection and, rarely, bleeding from the stomach, should be carefully monitored and prevented by reducing the dose or discontinuing when possible. Some patients respond well to treatment with aspirin, which relieves pain and reduces inflammation. Other drugs sometimes used to treat PMR are the nonsteroidal anti-inflammatory drugs which are commonly used to treat many types of arthritis. These drugs reduce pain and inflammation much like aspirin, but they cause fewer side effects in some people. During any period of pain and stiffness, people with PMR need to avoid being either too active or not active enough. Once drug therapy has taken effect, activity can be increased. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polymyalgia Rheumatica, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Arthritis Foundation 1314 Spring Street, N.W. Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References Polymyalgia Rheumatica (PMR). Wilske: Arthritis Medical Information Series (1983). Polymyalgia Rheumatica pagetitle 256: Polymyalgia Rheumatica 04122.TXT Copyright (C) 1986, 1989, 1991, 1992 National Organization for Rare Disorders, Inc. 278: Polymyositis _________________________ ** IMPORTANT ** It is possible the main title of the article (Polymyositis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS Primary Idiopathic Polymyositis Childhood Polymyositis Polymyositis associated with malignant tumors Polymyositis associated with connective tissue disease overlap syndromes, including Sclerodermatomyositis and Mixed Connective Tissue disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polymyositis is a systemic connective tissue disorder characterized by inflammatory and degenerative changes in the muscles, leading to symmetric weakness and some degree of muscle atrophy. The areas principally affected are the hip, shoulders, arms, pharynx and neck. Symptoms Symptoms of Polymyositis may start gradually or suddenly. The symptoms often wax and wane for no apparent reason. The major symptom of the disorder is muscle weakness, most often in the hip and shoulder areas, eventually making it difficult for patients to lift their arms or to climb steps. Other muscles which may be affected are the neck and throat muscles, which may result in difficulty in swallowing and cause changes in the voice. Rarely, chest muscles are affected. The muscle weakness may appear suddenly and progress over weeks to months. The difficulty in swallowing and dilatation of the lower esophagus and small intestine may be indistinguishable from that in Scleroderma (Progressive Systemic Sclerosis), (For more information on Scleroderma, choose "scleroderma" as your search term in the Rare Disease Database.) The muscles of the hands, feet and face often escape involvement. Contractures of the limbs may develop late in the chronic stage. Other symptoms of Polymyositis may include fever, weight loss and occasionally pain or tenderness in muscles and joints. A few people with Polymyositis have an extreme sensitivity to cold (Raynaud's Phenomenon) that is most often felt in the fingers. Raynaud's Phenomenon is caused by narrowing of the blood vessels in the fingers. (For more information, choose "Raynaud" as your search term in the Rare Disease Database.) People with Polymyositis may develop numb and shiny red areas around and under the finger nails. Pain in many joints (polyarthralgia), accompanied at times by swelling, fluid and other evidence of non-deforming arthritis, occurs in approximately one third of patients with polymyositis. These rheumatic complaints tend to be mild and respond well to corticosteroids. Gastrointestinal involvement, except for the pharynx and the esophagus, is relatively uncommon in polymyositis. Inflammation of the lungs with increase of interstitial tissue (interstitial pneumonitis), manifested by difficulty in breathing and by coughing, may precede myositis and dominate the clinical picture. Involvement of the heart, detected chiefly by irregularities in the electrocardiogram (ECG), has been reported. Acute kidney failure has been reported as a consequence of excess muscle protein myoglobin in the urine (Crush syndrome) due to severe disintegration of muscle (rhabdomyolysis). Sjogren's syndrome can occur in some patients with polymyositis. (For more information, choose "Sjogren" as your search term in the Rare Disease Database.) Abdominal symptoms, more common in children, may be associated with the passage of dark stools or the vomiting of blood from gastro-intestinal ulcerations that may progress to perforation and require surgical intervention. An associated malignancy, usually a carcinoma, may occur in about 15% of men and a smaller proportion of women over age 50 with polymyositis. Causes The cause of polymyositis is unknown. The disorders may be caused by the body's natural immune defense mechanisms attacking its own tissue (autoimmune reaction). Viruses may also play a role. Affected Population Polymyositis may appear at any time from infancy through the age of 80 years, but most commonly they occur between 40 to 60 years. In children, the symptoms usually appear between the ages of 5 to 15 years. Females are affected twice as often as males. Related Disorders Scleroderma (Progressive Systemic Sclerosis) is a rare, chronic collagen vascular disorder characterized by diffuse hardening, degenerative changes and vascular inflammation of the connective tissues of the skin, joints and many visceral organs. It shares certain clinical findings with polymyositis. Systemic Lupus Erythematosus (SLE) is an inflammatory connective tissue disorder that can affect many parts of the body including the joints, skin and internal organs. SLE is a disease of the body's immune system. It shares certain clinical findings with Polymyositis. (For more information on these related disorders, choose "Scleroderma" and "Lupus" as your search terms in the Rare Disease Database.) Therapies: Standard Corticosteroids such as prednisone, (together with antacids and potassium supplements), are widely used in treatment of Polymyositis. Measurement of muscle enzyme activity is used to gauge the effectiveness of therapy. Reduction of these enzymes to normal values is noted in a majority of patients with this disorder within 4 to 6 weeks after treatment is started. This is followed by an improvement in muscle strength. At this point the dose of prednisone can usually be reduced slowly. In many cases of adult polymyositis prolonged maintenance therapy with prednisone may be necessary indefinitely. Immunosuppressive drugs such as methotrexate, cyclophosphamide, chlorambucil and azathioprine have been beneficial to patients who fail to respond to corticosteroids alone. Some patients have received methotrexate for 5 years or longer for control of this disorder. Therapies: Investigational The FDA has approved the following orphan product for treatment of Polymyositis: Immune Globulin Intravenous (Human) (Iveegam, Immuno) Sponsored by: Immuno Clinic Research Corp. 155 E. 56th St. New York, NY 10022 The drug cyclophosphamide, in combination with the drug mesna, is being tested in severe polymyositis patients who are unresponsive to steroid immunosuppressant therapy. This therapy may be beneficial, but more research is needed to determine the long-term safety and effectiveness. This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polymyositis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dermatomyositis and Polymyositis Support Group 146 Newtown Rd. Woolston, Southhampton SO2 9HR England Phone Southhampton 449708 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Arthritis Foundation 1314 Spring St., NW Atlanta, GA 30333 (404) 872-7100 References POLYMYOSITIS AND DERMATOMYOSITIS: C.M. Pearson; Arthritis Medical Information Series, Arthritis Foundation, 1983. Polymyositis{ ~ pagetitle 278: Polymyositis 04123.TXT @$*$Copyright (C) 1986, 1988, 1989, 1991, 1992 National Organization for Rare Disorders, Inc. 142: Polyposis, Familial _________________________ ** IMPORTANT ** It is possible that the main title of the article (Familial Polyposis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Intestinal Polyposis I Familial Polyposis Coli Multiple Familial Polyposis Familial Adenomatous Colon Polyposis ACR, also known as Adenomatosis of the Colon and Rectum General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Familial Polyposis is a hereditary condition characterized by multiple, benign growths (polyps) which develop around puberty in the mucous lining of the gastrointestinal tract. Although the polyps themselves are initially benign, untreated patients with Familial Polyposis will eventually develop cancer of the large bowel, often during their late thirties or an earlier age. Symptoms Bleeding and diarrhea are the most common symptoms of Familial Polyposis. Other signs include crampy abdominal pain and weight loss. Persistent rectal bleeding may result in secondary anemia. However, symptoms may be completely absent or may not occur until cancer is already present, emphasizing the importance of early diagnosis. Causes Familial Polyposis is inherited through an autosomal dominant mechanism. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Evidence has been found on chromosome number five indicating that the genes that suppress tumor development may be lost or damaged in people who develop Familial Polyposis. Some scientists believe that the gene may control manufacture of an unknown substance that keeps the growth of cells' growth in check. If one copy of the gene is lost or damaged, production of the substance may decline, and a cell may develop into a polyp. Other changes in the cell may subsequently lead to cancer. Researchers believe that either a mutated or missing gene on chromosome 5, known as APC, is responsible for the development of Familial Polyposis. Affected Population Familial Polyposis occurs in one out of every 5,000 to 10,000 people and accounts for about one percent of colorectal cancers. Although the highest risk for this disorder is between the ages of 20 and 45, many patients have been diagnosed during their teens or after age 45. Related Disorders Familial Polyposis has been associated with other gastrointestinal syndromes. In Gardner's syndrome, it is associated with skin cysts, bone tumors in the jaw and skull, and up to a full set of extra or impacted teeth. In Peutz-Jeghers syndrome, numerous polyps in the stomach, small intestine, and colon occur with pigmented spots on the skin and mucous surfaces. In Turcot syndrome, familial polyposis is associated with tumors of the central nervous system. In juvenile polyposis, mucus-retention polyps are often diagnosed during infancy or early childhood. Cronkhite-Canada syndrome, an extremely rare disease, is manifested by cystic changes in the mucosa which resemble polyps, but are not at all related to the type of polyps (called adenomas) that characterize Familial Polyposis. For more information on some of the above disorders, choose the following words as your search terms in the Rare Disease Database: Gardner, Peutz, and Cronkhite. Therapies: Standard The aim of therapy in Familial Polyposis is to prevent cancer by the surgical removal of the large bowel. Surgical alternatives include joining the last part of the small intestine to the rectum, meaning that the rectum will have to be checked lifelong for rectal polyps; removing the rectum and creating an ileostomy; removing the lining of the rectum and developing a reservoir from the last part of the small intestine; and removing the rectum and constructing an internal abdominal pouch with a nipple valve. Screening--All children and siblings of a patient with polyposis should undergo rectal examination from puberty onward at regular intervals. Surveillance is lifelong. Therapies: Investigational Dr. Edmund Murphy is studying twins with Familial Polyposis. For information on this study please contact: Edmund A. Murphy, MD Center for Medical Genetics Blalock 1012, Johns Hopkins Hospital 600 N. Wolfe St. Baltimore, MD 21205 (410) 955-5065 This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Familial Polyposis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Familial Polyposis Registry Dept. of Colorectal Surgery Cleveland Clinic Foundation 9500 Euclid Ave. Cleveland, OH 44106 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 National Foundation of Ileitis and Colitis, Inc. 295 Madison Avenue, Suite 519 New York, NY 10017 (212) 685-3440 United Ostomy Association 20001 West Beverly Blvd. Los Angeles, CA 90057 (213) 413-5510 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 INTERNATIONAL FAMILIAL POLYPOSIS AND COLON CANCER REGISTRIES Dr. Z. Cohen Ms. T Berk Toronto General Hospital 200 Elizabeth Street Eaton Building 10-315 Toronto, Ontario M5G 2C4 Canada Dr. J.J. DeCosse Department of Surgery Cornell Medical Center 525 East 68th St., F-1917 New York, NY 10021 Dr. E.J. Gardner Natural Resources Biology Laboratory, Rm. 137 Utah State University Logan, Utah 84322 Dr. H. Gordon Mrs. L. Hruska Department of Medical Genetics Mayo Clinic Rochester, MN 55905 Dr. L. Herrera Cancer Research Surgeon Roswell Park Memorial Institute 666 Elm Street Buffalo, NY 14263 Ms. E. McGannon Colorectal Surgery The Cleveland Clinic Foundation 9500 Euclid Avenue Cleveland, Ohio 44106 Mrs. A.J. Kush The Moore Clinic The Johns Hopkins Hospital Baltimore, MD 21205 Dr. H.T. Lynch Department of Preventive Medicine Creighton University School of Medicine Omaha, NE 68178 Dr. L. Strong The University of Texas System Cancer Center M.D. Anderson Hospital and Tumor Institute Houston, TX 77030 Department of Surgery West Virginia University Hospital Morgantown, WV 26505 Dr. R.R. Love Familial Polyposis Registry Cancer Prevention Clinic 1300 University Avenue, 7C Madison, WI 53706 Dr. V.H. Hooks Familial Polyposis Registry Jernigan Cancer Registry 1350 Walton Way Augusta, GA 20190-3599 Dr. S.P. Bralow Roberta Margolis Bralow Cancer Prevention Center The Graduate Hospital, One Graduate Plaza Philadelphia, PA 19146 Dept. of Colorectal Surgery Cleveland Clinic Florida 3000 West Cypress Creek Road Ft. Lauderdale, FL 33309 Dr. J.W. Milson Ferguson Clinic Dept. of Surgical Research 72 Sheldon Blvd., S.E. Grand Rapids, MI 49503 Dr. R. Burt University of Utah Health Science Center 50 North Medical Dr. Salt lake City, UT 84132 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 767-8. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 817. HEREDITARY COLON CANCER NEWSLETTER: Volume 9, #1, Spring 1992. Polyposis, Familial pharG% J%pagetitle 142: Polyposis, Familial 04092.TXT Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 158: Pelizaeus-Merzbacher Brain Sclerosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pelizaeus-Merzbacher Brain Sclerosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Diffuse Familial Brain Sclerosis Aplasia, Axialis Extracorticales Congenita Sudanophilic Leukodystrophy Pelizaeus-Merzbacher Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Pelizaeus-Merzbacher Brain Sclerosis is a progressive, degenerative central nervous system disease in which coordination, motor abilities, and intellectual function deteriorate. It often progresses rapidly, although some patients have lived to old age. The disorder almost always occurs in males. Symptoms Evidence of Pelizaeus-Merzbacher Brain Sclerosis usually appears in early infancy, although onset is later in one form. The child fails to develop normal control of head movements and grows slowly. The eyes wander aimlessly or in circular movements. Later symptoms include tremor, various involuntary movements, grimacing, weakness, unsteady gait, and muscle contractures. In cases with later onset, speech usually deteriorates. As time progresses, legs and then the arms can become spastic, and mental functions deteriorate. Some patients experience convulsions. Skeletal deformation may result from abnormal muscular stresses on bone. Pathologic changes in the brain consist of destruction of the myelin sheath (a kind of insulation) surrounding the axons of the nerve cells (the white matter of the brain). These changes occur in subcortical parts of the cerebrum, the cerebellum, and the brainstem. Breakdown products of myelin also accumulate in the brain. These stain characteristically. Causes The reasons for the degeneration of the white matter of the brain are not understood. Pelizaeus-Merzbacher Brain Sclerosis is hereditary. Infantile forms are either autosomal recessive or X-linked. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. A form with adult onset is autosomal dominant. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. Affected Population One form of Pelizaeus-Merzbacher Brain Sclerosis affects male infants. Other forms affect infants or adults of both sexes. Related Disorders Pelizaeus-Merzbacher Brain Sclerosis belongs to a group of degenerative brain diseases known as leukodystrophies. These are characterized by destruction of the white matter of the brain, and include such diseases as Krabbe's, Schilder's, Adrenoleukodystrophy, and several others. Therapies: Standard Treatment for Pelizaeus-Merzbacher Brain Sclerosis is symptomatic. Supportive care, including emotional support for family members, is recommended as needed. Therapies: Investigational Current research is directed toward the identification of the gene that causes Pelizaeus-Merzbacher Brain Sclerosis. When the gene is located, scientists may be able to determine the exact cause of the symptoms, which will hopefully lead to development of new treatments for this disease. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pelizaeus-Merzbacher Brain Sclerosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 895-3211 (800) 728-5483 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2216. Pelizaeus-Merzbacher Brain Sclerosiss pagetitle 158: Pelizaeus-Merzbacher Brain Sclerosis 04093.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 652: Pemphigoid, Benign Mucosal _________________________ ** IMPORTANT ** It is possible that the main title of the article (Benign Mucosal Pemphigoid) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mucous Membrane Pemphigoid MMP Cicatricial Pemphigoid CP Disorder Subdivisions: Localized Cicatricial Pemphigoid (Brunsting-Perry Syndrome) Vegetating Cicatricial Pemphigoid Information on the following diseases can be found in the Related Disorders section of this report: Intermittent Mucosal Pemphigoid Gingivitis Bullous Pemphigoid Epidermolysis Bullosa Acquisita Pemphigus Vulgaris General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Benign Mucosal Pemphigoid is a rare skin disease characterized by blisters on the mucous membranes (the thin moist layer lining the body's cavities). Mucous membranes of the mouth and the conjunctiva (the eyelids) are commonly affected areas. Symptoms The first presenting symptom of Benign Mucosal Pemphigoid usually is a red and blistered mouth. The eye is a commonly affected area and may be the only area affected. The eyes may become red and the conjunctiva inflamed. There may be conjunctival scarring with formation of tissue between the eyelid and eyeball (symblepharon). Occasionally, blisters may occur in the mucous membranes of the pharynx and esophagus (the continuous tube extending from in back of the nose to the stomach), nose, vulva (female's external genitalia), and urethra (the tube in which urine is released). Blisters infrequently occur on the skin. Affected areas frequently develop scarring. Particular antibodies (substances the body produces to fight invading organisms) such as IgA, IgG, and C3 may be found in affected areas. Benign Mucosal Pemphigoid usually has a long duration with frequent remissions and recurrence. DISORDER SUBDIVISIONS Researchers suggest that Benign Mucosal Pemphigoid may be divided into the following additional categories: Localized Cicatricial Pemphigoid or Brunsting-Perry Syndrome is a chronic scarring disease characterized by blisters usually occurring on the head and neck. The blisters may be due to trauma or other local factors. Vegetating Mucous Membrane Pemphigoid combines features of Benign Mucous Membrane Pemphigoid and Pemphigus Vegetans. Pemphigus Vegetans is a variation of Pemphigus Vulgaris (see Related Disorder section). It is characterized by large, fast-growing blisters that usually occur in the armpit and groin areas. Causes The exact cause of Benign Mucosal Pemphigoid is not known. It is thought to be an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms suddenly begin to attack healthy tissue. Affected Population Benign Mucosal Pemphigoid usually affects middle-aged and elderly persons. However, cases affecting children and adolescents have been reported. Males and females are equally affected. Related Disorders Symptoms of the following disorders can be similar to those of Benign Mucosal Pemphigoid. Comparisons may be useful for a differential diagnosis: Gingivitis may resemble the red, blistered mouth common to Benign Mucosal Membrane Pemphigoid. Gingivitis is a common condition characterized by red, swollen gums that bleed easily when subjected to pressure. It usually begins during puberty, persists throughout life with varying severity, and can be caused by poor oral hygiene. There usually is little to no discomfort but may progress slowly to periodontal disease. In Desquamative Gingivitis, the reddened skin peels off in the form of scales. Intermittent Mucosal Pemphigoid consists of blisters occurring in the mouth which are few, widely separated in time, and heal without scar formation. Bullous Pemphigoid is a chronic skin disease usually affecting the elderly. It is characterized by firm, large blisters that develop on normal-appearing or reddened skin usually around cuts or scars. Within weeks, blisters spread to skin of the flexor (muscles that contract or flex) areas, groin, armpit, and the abdomen. Mucous membranes seldom are affected and tend to heal quickly. The blisters have little tendency to spread, but heal quickly when they do. There is, however, severe irritation. Bullous Pemphigoid is considered to be an autoimmune disorder. (For more information on this disorder, choose "Bullous Pemphigoid" as your search term in the Rare Disease Database). Epidermolysis Bullosa Acquisita is an acquired skin disorder usually affecting the middle-aged and elderly. Injuries may cause blisters on the skin of extensor areas including elbows, knees, pelvis, buttocks, and sometimes the skull. Eyes may also be affected. The blisters tend to leave scars after healing. There usually is IgG activity around the blisters. Epidermolysis Bullosa Acquisita is thought to be an autoimmune disorder. Pemphigus Vulgaris is a form of Pemphigus. Blisters may start as isolated regions on the scalp, then in the mouth. The blisters may persist for several months before appearing in other mucous membranes such as the esophagus, nose, eyelids (conjunctiva), and rectum. The blisters are soft, break easily, and heal poorly. Pressure on the border of the blisters causes them to spread. Pressure on normal-looking skin can cause it to fall off (Nikolsky's sign) and to blister. Pemphigus Vulgaris is an autoimmune disorder that usually affects the middle-aged and elderly. (For more information on this disorder, choose "Pemphigus" as your search term in the Rare Disease Database). Therapies: Standard The usual treatment of Benign Mucosal Pemphigoid is various drugs, either singly or in combinations. Corticosteroids drugs are commonly prescribed. Topical corticosteroids such as fluocinonide can relieve inflammation and itching. Systemic corticosteroids such as prednisone relieve inflammation and can suppress the immune system. Immunosuppressive drugs such as cyclophosphamide or azathioprine may also be used to treat Benign Mucosal Pemphigoid. The antibiotic drug dapsone may also be used to relieve inflammation. All of these drugs must be carefully monitored by a dermatologist for side effects. Other treatment is symptomatic and supportive. Therapies: Investigational The drug aldesulfonsodium is being investigated to treat childhood Benign Mucosal Pemphigoid. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Benign Mucosal Pemphigoid, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1370. MUCOSAL INVOLVEMENT IN BULLOUS AND CICATRICIAL PEMPHIGOID. A CLINICAL AND IMMUNOPATHOLOGICAL STUDY: V.A. Venning et al.; Br J Dermatol (January, 1988: issue 118(1)). Pp. 7-15. OCULAR CICATRICIAL PEMPHIGOID WITH GRANULAR IgG AND COMPLEMENT DEPOSITION: A.D. Proia et al.; Arch Ophthalmol (November, 1985: issue 103(11)). Pp. 1669-1672. IMMUNOSUPPRESSIVE THERAPY IN OCULAR CICATRICIAL PEMPHIGOID: B.J. Mondino and S.I. Brown; Am J Opthalmol (October, 1983: issue 96(4)). Pp. 453-459. Pemphigoid, Benign Mucosal !pagetitle 652: Pemphigoid, Benign Mucosal 04094.TXT @>5>Copyright (C) 1985, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 44: Pemphigus _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pemphigus) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Hailey-Hailey Disease Benign Familial Pemphigus Benign Chronic Familial Pemphigus Disorder Subdivisions: Pemphigus Vulgaris Pemphigus Vegetans Pemphigus Foliaceus Exfoliative Dermatitis Brazilian Pemphigus Foliaceus (Fogo Selvagem) Pemphigus Erythematosus Pemphigus Herpetiformis Drug-Induced Pemphigus Information on the following diseases can be found in the Related Disorders section of this report: Bullous Pemphigoid Darier Disease (Darier-White Disease, Keratosis Follicularis, DOC 22) Erythema Hyperkeratosis (Bullous type) Erythema Multiforme Epidermolysis Bullosa Epidermolysis Bullosa Acquista Dermatitis Herpetiformis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pemphigus is a group of rare autoimmune skin disorders characterized by the development of blisters in the outer layer of the skin (epidermis) and mucous membranes (thin moist layers that line the body's internal surfaces). The location and type of blisters vary according to the type of Pemphigus. If left untreated Pemphigus can be a serious illness. Symptoms Blisters in the outer layer of the skin are common to all types of Pemphigus. Blisters develop due to the destruction of the "cement" that holds cells together (epidermal acantholysis) resulting in the separation of cells from one another. Soft (flaccid) blisters generally occur on the neck, scalp, mucous membranes, and/or underarm (axillary) and groin areas (inguinal). Most patients with Pemphigus have deposits of IgG (an immune system antibody that defends against foreign substances) around the blistered areas (in the epidermal cells called keratinocytes). Antiepidermal antibodies directed against skin cells are typically present in the fluid of the blisters. The diagnosis of Pemphigus requires microscopic examination of cells in the blisters as well as detection of the IgG antibodies that characterize this disease. Pemphigus Vulgaris may begin with isolated blisters on the scalp, and then in the mouth. These may persist for several months and may be followed by blistering of the esophagus, nose, rectum, and/or the membranes that line the inner surfaces of the eyelids (conjunctiva). The blisters are soft; they break easily and heal poorly. Pressure on the borders of blisters causes them to spread. Pressure on normal-looking skin can cause it to blister (Nikolsky sign) in people with Pemphigus Vulgaris. Pemphigus Vegetans is a variation of Pemphigus Vulgaris. The blisters are fast-growing and have large (hypertrophic) lesions that are usually located in the groin (inguinal) and armpit (axillary) areas. Pemphigus Foliaceus is less severe and a less common form of the disorder. Soft blisters typically occur close to the surface of the skin. When they break, they ooze and become crusty, scaly, and susceptible to infection. Blisters may occur on the scalp, face, upper chest, and back; the mucous membranes are usually not affected. Small, horny plugs attached to the undersurface of the affected skin also may be seen. Another type of Pemphigus Foliaceus occurs in South America, particularly Brazil and Colombia, and is called Fogo Selvagem. When patients have symptoms of both Pemphigus Foliaceus and Systemic Lupus Erythematosus, they are said to have Pemphigus Erythematosus. Lupus, also known as SLE, is an inflammatory disease of connective tissue. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database.) Pemphigus may also occur as a result of an adverse reaction to certain drugs such as d-penicillamine and rifampin; symptoms usually resemble those of Pemphigus Foliaceus rather than Pemphigus Vulgaris. Some research suggests that Pemphigus Herpetiformis is a subtle form of Pemphigus with its own characteristic blisters. However, blisters that form during a relapse may resemble those of Pemphigus Foliaceus. In Benign Familial Pemphigus (Hailey-Hailey Disease), recurrent blisters are seen primarily on the neck, groin, and armpits. Blisters may recur because of sweating, skin infections, and exposure to extreme heat and/or ultraviolet light. Causes Most forms of Pemphigus are generally considered to be autoimmune-related. Autoimmune disorders are caused when the body's natural defenses against invading organisms (antibodies, lymphocytes, etc.) mistakenly begin to attack perfectly healthy tissue. Benign Familial Pemphigus (Hailey-Hailey disease) is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Fogo Selvagem (Brazilian Pemphigus Foliaceus) is an autoimmune blistering disorder that may be triggered by a substance transmitted through the bite of blackflies. Pemphigus may also occur following x-ray exposure or adverse reaction to drugs such as d-penicillamine or rifampin. Affected Population Pemphigus affects males and females in equal numbers and is most common in middle-aged and elderly people. However, cases of children with Pemphigus have been reported. This disorder has been found in all ethnic groups and races, but is more common in people of Jewish or Mediterranean ancestry. Pemphigus occurs once in 100,000 people in the United States. Fogo Selvagem occurs in the central rural areas of Brazil that are heavily infested with a species of blackfly. Related Disorders Symptoms of the following disorders can be similar to those of Pemphigus. Comparisons may be useful for a differential diagnosis: Bullous Pemphigoid is a chronic mild skin disorder that generally affects elderly people. It is characterized by large firm fluid-filled blisters (bullous pemphoid) that heal quickly and typically disappear in several months or years. However they may recur later. Early symptoms include redness on the skin followed within weeks by the appearance of blisters. The mucous membranes are rarely affected by Bullous Pemphigoid. (For more information on this disorder, choose "Bullous Pemphigoid" as your search term in the Rare Disease Database.) Darier Disease (Darier-White Disease or Keratosis Follicularis) is a progressive inherited skin disorder characterized by widespread firm elevated lesions on the skin and mucous membranes; abnormal changes of the finger and toe nails may also occur. Symptoms usually begin with a sensation of itching or burning on the skin, especially the scalp, forehead, face, neck, and back. Firm, elevated spots (papules) appear and typically become large and darkened; eventually these papules become scaly and crusty. As these spots enlarge, they may come together and form larger areas. The symptoms of Darier Disease tend to become more severe during periods of emotional stress or with exposure to sunlight. (For more information on this disorder, choose "Darier" as your search term on the Rare Disease Database.) Epidermolytic Hyperkeratosis (bullous type) is a rare hereditary skin disorder characterized by the overgrowth of skin (hyperkeratosis) and an abnormal redness of the skin (erythroderma). The symptoms are present at birth and may range from mild to severe. The skin may appear "warty," blistered, and thick over most of the body, particularly in the skin creases over joints. The disorder can be detected before birth by amniocentesis (microscopic examination of the fluid that surrounds the developing fetus). (For more information on this disorder, choose "Epidermolytic Hyperkeratosis" as your search term in the Rare Disease Database.) Erythema Multiforme is an allergic inflammatory skin disorder characterized by lesions that develop on the skin and mucous membranes. The early symptoms may include red, elevated spots (erythematous macules or papules) that may have fluid filled centers and eventually grow into larger blisters. Affected areas generally include: hands, forearms, feet, and/or mucous membranes of the mouth, nose and/or genitals. The skin lesions and blisters caused by Erythema multiforme generally appear on both sides of the body and tend to heal in approximately 2 to 6 weeks. Erythema Multiforme may also cause fever, joint pain, cough, and a sore throat. (For more information on this disorder, choose "Erythema Multiforme" as your search term in the Rare Disease Database.) Epidermolysis Bullosa refers to a group of rare hereditary skin diseases characterized by fragile skin; blisters and small fluid-filled lesions develop following minor trauma. In some forms of Epidermolysis Bullosa, the mucous membranes are involved. Healing may be impaired in some forms of this disorder resulting in multiple scars and/or damage to underlying muscle tissue. (For more information on these disorders, choose "Epidermolysis Bullosa" as your search term in the Rare Disease Database.) Epidermolysis Bullosa Acquista is a rare autoimmune disorder of the skin that typically affects middle-aged and elderly people. Trauma may cause blisters on the skin of the elbows, knees, pelvis, buttocks, and scalp. Increased levels of IgG are usually found around the blisters; scars usually remain after healing. (For more information on this disorder, choose "Epidermolysis Bullosa" as your search term in the Rare Disease Database.) Dermatitis Herpetiformis is a rare chronic skin disorder that is characterized by groups of severely itching blisters and elevated lesions. This disorder is often associated with a sensitivity to foods that contain gluten (gluten-sensitive enteropathy). The onset of this disorder in generally slow in adults, but children may also be affected. Small, discrete blisters and itchy smooth lesions similar to hives may appear on the head, elbows, knees, lower back, and buttocks. Itching and burning may be almost intolerable, and the need to scratch may be overwhelming. (For more information on this disorder, choose "Dermatitis Herpetiformis" as your search term in the Rare Disease Database.) Therapies: Standard Corticosteroids are the most widely used drugs for treating Pemphigus. Frequently, topical corticosteroid ointments can relieve inflammation and itching, and oral (systemic) corticosteroids such as prednisone relieve inflammation and suppress the immune system. Immunosuppressive drugs such as cyclosporine, cyclophosphamide, azathioprine, or methotrexate may be prescribed to treat severe cases of Pemphigus. Cytotoxic drugs may also be used to suppress the immune system. Gold compounds such as auranofin may be given to relieve inflammation and to attempt to suppress the immune system (chrysotherapy). The drug Dapsone may also be prescribed but should be used with extreme caution. To reduce immediate or long-term side effects, drug therapy may be stopped temporarily or changed. Antibiotic drugs or creams may be given to manage infection and relieve inflammation. Silver sulfadiazine cream also may be used. Dusting the patient and their bed sheets with talcum powder may relieve the discomfort of raw skin. Genetic counseling may be beneficial for patients and their families if they have the hereditary form of Pemphigus. Other treatment is symptomatic and supportive. Therapies: Investigational Plasmapheresis may benefit some people with Pemphigus. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and long-term effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Pemphigus. Researchers are investigating a new method of plasmapheresis for Pemphigus patients. An immunoglobin-free albumin solution is substituted for the plasma and blood that is usually transfused into the patient. This procedure may decrease the autoimmune response of the antibodies in the patient. Scientists are studying a new approach to treatment of Pemphigus which uses extracorporeal (outside the body) photopheresis. In this process, the blood is withdrawn, exposed to ultraviolet light, and then returned to the Pemphigus patient. More study is needed to determine the safety and effectiveness of this procedure. Surgery is also being investigated to treat Pemphigus when it is not responsive to standard therapy. Surgery involves removing the blistered skin and applying skin grafts. This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pemphigus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1368-1372. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 835-836. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2309. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1373-1374. CLINICAL DERMATOLOGY, 2nd Ed.; Thomas P. Habif, M.D., Editor: The C.V. Mosby Company, 1990. Pp. 412-415. PEMPHIGUS: N. Korman; J Am Acad Dermatol (June, 1988: 18(6)). Pp. 1219-1238. THE PATHOGENIC EFFECT OF IgG 4 AUTOANTIBODIES IN ENDEMIC PEMPHIGUS FOLIACEUS (FOGO SELVAGEM). Terblanche, John, et al.; The New Eng J of Med. (June 1, 1989: 320 (22)). Pp. 1463-1469. DERMATOLOGIC CLINICS: THE GENODERMATOSES, vol. 5, no. 1: J.C. Alper, ed; W.B. Saunders Co., 1987. Pp. 160-161, 171-173. Pemphigus ) a=? @?pagetitle 44: Pemphigus 04095.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 790: Penta X Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Penta X Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms XXXXX Syndrome 49,XXXXX Syndrome Information on the following disease can be found in the Related Disorders section of this report: Down Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Penta X Syndrome is a chromosomal disorder which affects females. It is caused by the presence of extra X chromosomes. Major symptoms may include mental and growth deficiencies, upward slanting eyes with excess skin over the inner corners of the eyes (epicanthal folds), and an unclosed blood vessel that connects the lung's left artery to the heart's main artery (patent ductus arteriosus). Symptoms Individuals with Penta X may have mental deficiencies, failure to thrive, and growth deficiencies that may result in short stature. The face may be unusually round, the head small, and the eyes widely spaced (hypertelorism) and upwardly slanted. Excess skin over the inner corner of the eyes (epicanthal folds) may occur. A short neck, a low hairline, low-set ears, teeth defects such as abnormally short roots, and deformities of the iris in the eye may also occur. In the developing fetus, there is a blood vessel that connects the lung's left artery to the aorta, the heart's main artery. This blood vessel normally closes at the age of about twenty-four hours. When it fails to close it is called patent ductus arteriosus, and it may cause problems of blood circulation as well as heart problems. The hands of females with Penta X Syndrome may be small with unusual creases across the palms (simian creases). Foot deformities may also occur causing only the ball and the sides of the foot to touch the ground (talipes equinovarus). Multiple joint dislocations may affect the shoulder, elbow, hips, wrists, or fingers. Additionally, the kidneys may develop abnormally (renal dysplasia). Causes Penta X Syndrome is a genetic disorder caused by the presence of extra X chromosomes. Normal females have 46 chromosomes, two of which are X chromosomes. Penta X individuals have 49 chromosomes, five of which are X chromosomes. Affected Population Penta X Syndrome is a very rare disorder affecting only females before birth. Related Disorders Symptoms of the following disorders can be similar to those of Penta X Syndrome. Comparisons may be useful for a differential diagnosis: Down Syndrome is the most common and readily identifiable genetic condition associated with mental retardation. It is caused by an extra chromosome 21. There are over 50 clinical signs of Down Syndrome, but it is rare to find all or even most of them in one person. Some common characteristics include: mental retardation, upward slanting eyes with excess skin at the inner corners (epicanthal folds), unusual creases across the palms (simian creases), short neck and hands, small head and ears, poor muscle tone, fine, soft, and often sparse hair, and sometimes heart and respiratory problems. Down Syndrome affects males and females. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database). Therapies: Standard The open fetal vessel (patent ductus arteriosus) of Penta X individuals can be dealt with surgically. Other treatment is symptomatic and supportive. Special education, physical therapy, and other medical, social, or vocational services may be of benefit to help the child to reach his/her potential. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Penta X Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 National Association for Retarded Citizens P.O. Box 6109 Arlington, TX 76011 (817) 640-0204 1-800-433-5255 For information about education of children with learning disabilities: National Information Center for Handicapped Children and Youth P.O. Box 1492 Washington, D.C. 20013 (703) 528-8480 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones; W.B. Saunders Co., 1988. Pp. 73. 49,XXXXX SYNDROME: R. Fragoso, et al.; Ann Genet (1982, issue 25 (3)). Pp. 145-148. Penta X Syndrome pagetitle 790: Penta X Syndrome 04096.TXT Copyright (C) 1993 National Organization for Rare Disorders, Inc. 939: Pentalogy of Cantrell _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pentalogy of Cantrell) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cantrell Syndrome Cantrell-Haller-Ravich Syndrome Cantrell Pentalogy Pentalogy Syndrome Peritoneopericardial Diaphragmatic Hernia Thoracoabdominal Ectopia Cordis Thoracoabdominal Syndrome TAS Midline Defect TAS, Midline Defects, Included Information on the following diseases can be found in the Related Disorders section of this report: Omphalocele General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pentalogy of Cantrell is a very rare disorder characterized by a combination of severe defects of the middle of the chest, sternum, diaphragm, heart, and abdominal wall. This defect can affect males or females and is apparent at birth or shortly after. Symptoms Pentalogy of Cantrell is characterized by chest wall defects that may include a clefting of the chest area. The protrusion of the intestines through the child's navel into a sac (omphalocele) is also present. Muscles of the diaphragm are often missing allowing the heart to be apparent under the skin. An opening between the area of the body that contains the bowels, liver, and heart may exist. Often the above defects affect the infant's ability to breathe, for the heart to function, and may even cause widespread internal infection of the patient's abdominal cavity. Symptoms may occur due to an abnormality in the development of midline embryonic tissue fourteen to eighteen days after conception. The infant usually has normal intelligence. Causes Pentalogy of Cantrell can be a sporadic condition or be transmitted by an X-linked gene. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked disorders are conditions which result from a defective gene on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be corrected by the normal gene on the other X chromosome causing the female to be asymptomatic or making symptoms less serious than in males. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Pentalogy of Cantrell is a very rare disorder it effects 5.5 infants per one million live births. Males are effected more frequently than females. Females tend to have less severe symptoms than males. Approximately fifty cases have been identified in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Pentalogy of Cantrell. Comparisons may be useful for a differential diagnosis: Omphalocele is the protrusion of the internal abdominal tissue through the navel into a clear sac outside of the body. If the size is less than 4 cm it is considered a hernia of the navel. If more than 4 cm it is an omphalocele. Therapies: Standard Pentalogy of Cantrell usually requires a series of surgeries over a period of years. Abdominal and heart defects both require very involved surgical procedures. The abdominal defect is usually closed first. Heart defects are repaired when the child is older. The disorder is usually apparent at birth or shortly after. Ultrasound testing can determine if the condition is present even before birth. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pentalogy of Cantrell, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. P. 1971. NELSON TEXTBOOK OF PEDIATRICS, 14th ed., Ed.: Richard E. Behrman, W.B. Saunders Company, 1992. Pp. 1032-1033. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1375-1376. GASTROINTESTINAL DISEASE, PATHOPHYSIOLOGY, DIAGNOSIS, AND MANAGEMENT, 4th ed., Ed.: Marvin H. Sleisenger, M.D., W.B. Saunders, Co., 1989. Pp. 1015-1017. PRENATAL DIAGNOSIS OF PENTALOGY OF CANTRELL., A. Ghidini, et al.; J Ultrasound Med, October, 1988, (issue 7 (10)). Pp. 567-572. PENTALOGY OF CANTRELL AND ECTOPIA CORDIS, A FAMILIAL DEVELOPMENTAL FIELD COMPLEX., R.A. Martin, Am J Med Genet, April, 1992, (issue 42 (6)). Pp. 839, 841. Pentalogy of Cantrell y, 1{ pagetitle 939: Pentalogy of Cantrell 04097.TXT pagetitle 875: PEPCK Deficiency, Mitochondrial $~$Copyright (C) 1992 National Organization for Rare Disorders, Inc. 875: PEPCK Deficiency, Mitochondrial _________________________ ** IMPORTANT ** It is possible that the main title of the article (Mitochondrial PEPCK Deficiency) is not the name you expected. PLease check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial Information on the following diseases can be found in the Related Disorders section of this report: Korsakoff's Syndrome Leigh's Disease Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase Deficiency General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mitochondrial PEPCK Deficiency is an extremely rare disorder of carbohydrate metabolism inherited as an autosomal recessive trait. A deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is a key enzyme in the conversion of proteins and fat to glucose (gluconeogenesis), causes an excess of acid in the circulating blood (acidemia). Characteristics of this disorder are low blood sugar (hypoglycemia), loss of muscle tone, an abnormal enlargement of the liver and failure to gain weight and grow normally. Symptoms Patients with Mitochondrial PEPCK Deficiency have an inherited deficiency in the enzyme phosphoenolpyruvate carboxykinase. This enzyme is key in the process of converting proteins and fat to glucose (gluconeogenesis). Major symptoms of this disorder are: Lactic acidemia - presence of excess acid in the circulating blood. Hypoglycemia - an abnormally low blood sugar (glucose) level. Glucose is essential for the functioning of many organs and systems in the body, especially the central nervous system. Hypotonia - loss of muscle tone. Hepatomegaly - abnormal enlargement of the liver. Failure to thrive - inability to gain appropriate weight and grow normally. One patient with Mitochondrial PEPCK Deficiency was reported to have swelling of the arms and legs (Peripheral edema), a disorder in liver function and fever for no apparent reason. It is not known whether these symptoms are related to the disorder. The course of this disorder can be very rapid. Causes Mitochondrial PEPCK Deficiency is a very rare disorder that is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Mitochondrial PEPCK Deficiency affects males and females in equal numbers. This disorder is extremely rare and very few cases have been reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Mitochondrial PEPCK Deficiency. Comparisons may be useful for a differential diagnosis: Korsakoff's Syndrome is a deficiency of vitamin B-1 (thiamine) which causes cardiovascular, central and peripheral nervous system disturbances. The disease results from either inadequate dietary intake of B-2 or from impaired absorption or utilization of vitamin B-1. It is common in the orient where excessive milling of rice reduces its thiamine content. (For more information on this disorder, choose "Korsakoff" as your search term in the Rare Disease Database). Leigh's Disease is a rare genetic metabolic disorder characterized by lesions of the brain, spinal chord, optic nerve and in some cases, an enlarged heart. Symptoms during infancy may include low body weight, slow growth, tremors, skin changes and interrupted breathing patterns. Progressive neurological disturbances, mental retardation, slurred speech and loss of motor coordination (ataxia) may occur in cases beginning during or after infancy. Leigh's Disease is thought to be inherited through an autosomal recessive trait. (For more information on this disorder, choose "Leigh" as your search term in the Rare Disease Database). Pyruvate Carboxylase Deficiency is a rare metabolic disorder in which there is a deficiency of the enzyme pyruvate carboxylase. This disorder causes an excess presence of acid in the circulating blood (lactic acidemia), neurologic deterioration, vomiting, irritability, inactivity, loss of muscle tone, abnormal eye movements, and seizures. The course of this disorder is progressive. It is inherited through an autosomal recessive trait. (For more information on this disorder, choose "Pyruvate Carboxylase " as your search term in the Rare Disease Database). Pyruvate Dehydrogenase Deficiency is a rare disorder of carbohydrate metabolism inherited through an autosomal recessive trait. Symptoms are caused by a deficiency of the enzyme pyruvate dehydrogenase resulting in persistent or recurrent metabolic acidosis (acidemia). The disorder is manifested by mental retardation and other neurological symptoms. (For more information on this disorder, choose "Pyruvate Dehydrogenase" as your search term in the Rare Disease Database). Therapies: Standard Diagnosis of PEPCK Deficiency can be made shortly after birth by biochemical analysis of fibroblast cells. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Treatment of severe lactic acidosis with Dichloroacetate appears to improve certain laboratory tests, but does not result in improvement of symptoms. A study published in the November 26, 1992 New England Journal of Medicine indicated that only twelve percent of the Dichloroacetate-treated patients survived and seventeen percent of the placebo-treated group survived. Scientists do not understand why this appears to reduce arterial-blood lactate concentrations and pH, but fails to alter the disease. Research on inborn errors of metabolism, such as PEPCK Deficiency, is ongoing. Scientists are studying the causes of these disorders and trying to design enzyme replacement therapies that will return a missing enzyme to the body. In PEPCK Deficiency patients are unable to metabolize the enzyme. Scientists are investigating the reasons why the enzyme is not metabolized so they can understand how to correct the metabolic defect. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mitochondrial PEPCK Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Lactic Acidosis Support Group 1620 Marie Ave. Denver, CO 80229 (303) 837-2117 or 287-4953 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 Institute Digestive Diseases Information Clearinghouse P.O. Box NDDIC Bethesda, MD 20892 (301) 468-6344 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1421. THE METABOLIC BASIS OF INHERITED DISEASE, 6th ed.: Charles R. Schriver, et al.; eds., McGraw Hill, 1989. Pp. 878-9. A CONTROLLED CLINICAL TRIAL OF DICHLOROACETATE FOR TREATMENT OF LACTIC ACIDOSIS IN ADULTS: P.W. Stacpoole, et al.; The New England Journal of Medicine; (November 26, 1992, issue 327 (22)). Pp. 1564-69. PEPCK Deficiency, Mitochondrial 04098.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 736: Perniosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Perniosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Chilblains Pernio Cold Induced Vascular Disease Erythema, Pernio Disorder Subdivisions Thigh Perniosis Information on the following diseases can be found in the Related Disorders section of this report: Vasculitis Raynaud's Syndrome Chilblain Lupus Erythromatosus Urticaria, Cold General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Perniosis is a vascular disorder caused by prolonged exposure to cold damp weather. It is characterized most often by skin lesions on the lower legs, hands, toes, feet, ears and face. Symptoms Perniosis is an inflammation of the small blood vessels caused by an abnormal reaction to the cold. It is characterized by a bluish-red discoloration of the skin that can cause pain, intense itching, burning, and swelling of the skin especially as the body becomes warmer. A dark-blue discoloration (acrococyanosis) may be seen on the fingertips or extremities. The lesions usually occur on the fingers, toes, lower legs, heels, ears and nose. In severe cases there may be blister-like lesions (bullae) which may ulcerate if rubbed or irritated. Perniosis is a seasonal disorder usually occuring when the weather is cold and the humidity is high; late fall and winter. It usually lasts for several weeks, but in some cases may persist even into the warmer months. Thigh Perniosis is a form of Perniosis that more commonly affects young women who wear tight fitting pants. It is characterized by red or bluish patches (plaques) on the skin. These plaques are distributed on the outside of the thighs and can cause swelling, burning, itching and occasionally ulceration. Exposure to a warm temperature and wearing looser fitting thermal insulated clothing will usually relieve or avoid the symptoms of this abnormal reaction to the cold. Causes The exact cause of Perniosis is unknown. It may be caused by an allergic reaction or hypersensitivity to the cold. Prolonged exposure to the cold, insufficient protective clothing, circulatory or cardiovascular diseases may also be causative factors. Affected Population Perniosis is seen more often in females than in males. Children, adults with poor circulation, and smokers are affected more often than other people. It is more common in colder climates and rarely seen in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Perniosis. Comparisons may be useful for a differential diagnosis: Raynaud's Disease (or Raynaud's Phenomenon) is a vascular disorder. It is characterized by spasms of arterioles occuring with exposure to cold, occuring especially in the fingers and toes. Occasionally other areas of the body such as the nose and tongue may be affected. The intermittent attacks of pallor or bluish color of the fingers or toes are precipitated by exposure to cold and intensified by emotional upsets. Raynaud's may occur alone or be secondary to other conditions. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database). Chilblain Lupus Erythromatosus is a chronic and persistent form of Lupus Erythromatosus. It may be preceded by facial lesions, but most commonly affects the fingers, calves and heels of the feet. It is a disorder that affects mostly women and may progress to Systemic Lupus Erythromatosus which can affect the internal organs. (For more on this disorder, choose (Lupus" as your search term in the Rare Disease Database.) Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls. This inflammation causes a narrowing of the inside of the vessel and can obstruct the flow of blood to the tissues (ischemia). The lack of blood may cause damage to the tissues (necrosis), possible formation of blood clots (thrombosis), or a weakening or ballooning which can possibly cause a rupture of the vessel wall (aneurysm). (For more information on this disorder, choose "Vasculitis" as your search term in the Rare Disease Database.) Cold Urticaria is a chronic, reactive skin disorder. It is probably the most common form of physical urticaria. Major symptoms may include abnormal reddening of the skin (erythema), hives, and itching after exposure of the skin to cold temperatures. (For more information on this disorder, choose "Urticaria, Cold" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Perniosis consists of warming the affected areas slowly and not scratching or rubbing the affected skin. This will help avoid further damage to the skin. Corticosteroid creams may help relieve the intense itching. The calcium channel blocker drug nifedipine (Adalat) can be an effective treatment in relieving the symptoms of cold related Perniosis. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Perniosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 421-8453 References THE MERCK MANUAL, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1987. Pp. 2361. THE TREATMENT OF CHILBLAINS WITH NIFEDIPINE: THE RESULTS OF A PILOT STUDY, A DOUBLE-BLIND PLACEBO-CONTROLLED RANDOMIZED STUDY AND A LONG-TERM OPEN TRIAL. M. Rustin, et al.; BR J DERMATOL (February 1989, issue 120 (2)). Pp. 267. CHRONIC PERNIO. A HISTORICAL PERSPECTIVE OF COLD-INDUCED VASCULAR DISEASE. J. Jacob, et al.; ARCH INTERN MED, (August 1986, issue 146 (8)). Pp. 1589-1592. Perniosis pagetitle 736: Perniosis 04099.TXT b Copyright (C) 1986, 1988 National Organization for Rare Disorders, Inc. 191: Pertussis _________________________ ** IMPORTANT ** It is possible the main title of the article (Pertussis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Whooping Cough DISORDER SUBDIVISIONS Catarrhal Stage Paroxysmal Stage Convalescent Stage General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pertussis is caused by the coccobacillus Bordetella pertussis bacteria. This bacillus invades the mucous membranes of the nose, throat, trachea, bronchi, and bronchioles causing increased secretion of mucus which is initially thin and later thick. The disease lasts about six weeks and is divided into three stages: catarrhal, paroxysmal, and convalescent. Pertussis is extremely rare in populations where vaccination is used to prevent this disease in children. In fact, the best therapy for whooping cough is prevention through vaccination with the DPT vaccine. The U.S. Centers for Disease Control in Atlanta, GA suggests the small risk associated with the DPT vaccine is negligible compared to the severity of the disease itself. Symptoms The catarrhal stage of Pertussis begins gradually with symptoms such as sneezing, tearing, or other signs of a common cold, loss of appetite and listlessness. A troublesome, hacking, nocturnal cough which eventually remains throughout the day is also present. Fever is rare. The cough in Pertussis becomes paroxysmal (suddenly recurring) after 10 to 14 days. There may be from 5 to over 15 rapidly consecutive coughs followed by the whoop (a hurried, deep inhalation). Following a few normal breaths, another paroxysm may begin. Copious amounts of thick mucus may be expelled (usually swallowed by infants and young children) during or following the paroxysms. Vomiting after the paroxysms, which may be due to gagging on the mucus, is characteristic. Choking spells may be more common than whoops in infants. The convalescent stage of Pertussis usually begins within four weeks after onset. Paroxysms are not so frequent or severe, vomiting decreases, and the patient looks and feels better. Paroxysmal coughing may recur for months, usually as a result of irritation from an upper respiratory infection. In severe cases, Pertussis may cause brain damage or death. Causes Pertussis is caused by the coccobacillus Bordetella pertussis bacteria. Affected Population Pertussis especially strikes young children; in older children, the symptoms tend to be less severe. Adults and older people are rarely affected. Between 1984-1986, there were 5,685 cases of Pertussis reported to the Centers for Disease Control (CDC) in Atlanta, GA. The actual number of cases may be much higher. The World Health Organization (WHO) estimates that 60 million cases of Pertussis occur worldwide each year and that this disorder is responsible for 500,000 to one million deaths per year in the world. Related Disorders Bronchitis and influenza often show symptoms similar to Pertussis in the catarrhal stage (mucous discharge from the nose and throat). A positive culture for B Pertussis from a nasopharyngeal specimen indicates the presence of Pertussis. Therapies: Standard Hospitalization is recommended for infants with Pertussis. Small, frequent meals are advisable. Parenteral fluid (IV) therapy may be required to replace salt and water loss if vomiting is severe. In infants, careful suction from the throat may be necessary, and tracheostomy or nasotracheal intubation is occasionally necessary. Oxygen should be given if cyanosis (bluish coloration of the skin and mucous membranes) persists after removal of mucus. Seriously ill infants should be housed in a darkened, quiet room and disturbed as little as possible to prevent frequent coughing. Close attention should be paid to the nutritional needs of the infant, since malnutrition can contribute significantly to an adverse outcome of the disease. Expectorant cough mixtures, cough suppressants, and sedatives are of little value and should be used cautiously or not at all. Antibiotics should be used only for bacterial complications. The best therapy for whooping cough is prevention through vaccination with the DPT vaccine. The U.S. Centers for Disease Control in Atlanta, GA suggests the small risk associated with the DPT vaccine is negligible compared to the severity of the disease itself. The most severe complication of DPT vaccination is the very rare occurrence of irreversible brain damage caused by the Pertussis vaccine in DPT (Diphtheria, Pertussis, Tetanus vaccine). The American Academy of Pediatrics has reported "near epidemic" local outbreaks of whooping cough in at least 10 geographic areas in the United States where parents have not permitted immunization of their children against Pertussis because of this complication. The Centers for Disease Control tabulated over 2,000 cases of whooping cough in the United States during the first 11 months of 1985. Before the DPT vaccine became commercially available, 250,000 cases of whooping cough occurred yearly in the United States resulting in 4,000 to 5,000 deaths annually. A recent British study indicated that serious side effects due to the DPT vaccine occurred in only 1 out of every 110,000 DPT vaccinations, whereas the risk of suffering brain damage from whooping cough itself is 1 in every 9,500 cases. Research on a new, safer Pertussis vaccine is presently underway. Doctors fear an outbreak of whooping cough in the United States due to a recent rise in the cost of the DPT vaccine. Lederle Laboratories recently announced that the price of the vaccine will rise from $67 per vial to more than $170 per vial due to a substantial increase in product liability insurance. Lederle has been sued for $2.2 billion during recent years because of the vaccine. While the Centers for Disease Control estimates that only one in 100,000 to 300,000 children will develop serious complications from the DPT vaccine, it is estimated that one youngster in 9,500 who get whooping cough will suffer similar brain damage or will die as a consequence of the disorder. The State of Oklahoma presently leads the nation in cases of whooping cough. Therapies: Investigational Tests of experimental acellular bacterial Pertussis vaccines in Sweden and Japan have not shown a high success rate as initially hoped. According to the scientists, more study is necessary because of the complexity of the bacterial acellular vaccines. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pertussis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road Atlanta, GA 30333 (404) 639-3534 Dissatisfied Parents Together (DPT) 128 Branch Road Vienna, VA 22180 DPT is a group of parents whose children have had serious adverse reactions to childhood vaccines. References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1624-6. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 2008. Pertussis in t}! !pagetitle 191: Pertussis 04100.TXT Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 149: Peutz-Jeghers Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Peutz-Jeghers Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Intestinal Polyposis II Intestinal Polyposis-Cutaneous Pigmentation Syndrome Hutchinson-Weber-Peutz Syndrome Jegher's Syndrome Lentigio-Polypose-Digestive Syndrome Melanoplakia-Intestinal Polyposis Peutz-Touraine Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Peutz-Jeghers Syndrome is a hereditary condition characterized by multiple, benign growths (polyps) on the mucous lining of the intestinal wall, and dark discolorations on the skin and mucous surfaces. Low grade malignancies develop in about a fifth of the patients, but the risk of cancer is much lower in this syndrome than in the familial colonic polyposes. Symptoms Peutz-Jeghers Syndrome appears between 10 and 30 years of age, although the characteristic discolorations are present from birth. These freckles are found around the lips, inside the mouth on the mucosal lining of the cheeks, and on the fingers, palms of the hands, forearms, toes, and around the naval. They may coalesce, intensify, or fade, especially around puberty. Polyps occur in the small intestine, and occasionally in the stomach or large intestine (colon). Patients can experience severe, recurrent pain that disappears with massage, physical manipulation, or contorting the body. The intestine has a tendency to prolapse into itself like a telescope (intussusception). The "stomach may growl" frequently, and there may be considerable abdominal discomfort. Intestinal bleeding occurs, often sufficiently to cause anemia, but is commonly only discovered in the stool by laboratory testing. Untreated patients may develop intestinal malignancies by their early forties. Intussusception, or telescoping, can cause serious complications such as intestinal obstruction and gangrene (necrosis or death of the tissue) requiring surgery. Intestinal bleeding can also become quite severe. Causes Peutz-Jeghers Syndrome is inherited through an autosomal dominant mechanism. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Related Disorders Peutz-Jeghers Syndrome is related to several syndromes in which familial polyposis plays a role. In familial adenomatous colon polyposis, numerous polyps develop in the large intestine and are associated with a very high incidence of colonic cancer if untreated. In Gardener syndrome, polyposis is associated with cysts and tumors in the skull and related structures, and extra teeth. The Canada-Cronkhite syndrome combines familial polyposis with abnormalities of the structures derived from the embryonic ectodermal layer. In Turcot syndrome, familial polyposis occurs with tumors in the central nervous system. Therapies: Standard Large individual polyps or particularly heavily affected sections of the intestine can be removed surgically in patients with Peutz-Jegher Syndrome. If complications such as intussusception or intestinal gangrene develop, the involved intestine must also be resected. The gastrointestinal tract should be X-rayed periodically to detect changes in size and number of polyps. This should be done periodically from childhood through adolescence. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Peutz-Jeghers Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 496-2162 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 767, 771. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 817, 2322. Peutz-Jeghers SyndromeE pagetitle 149: Peutz-Jeghers Syndrome 04101.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 488: Peyronie Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Peyronie Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Penile Induration Penile Fibrosis Plastic Induration Corpora Cavernosa Plastic Induration of the Penis Fibrous Cavernositis Chronic Cavernositis Fibrous Sclerosis of the Penis Fibrous Plaques of the Penis Penile Fibromatosis Van Buren's Disease Information on the following diseases can be found in the Related Disorders section of this report: Balanitis Xerotica Obliterans Erythroplasia of Queyrat Dupuytren's Contracture Diabetes Mellitus General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Peyronie Disease is a condition characterized by fibrous plaques in the soft tissue of the penis of adult males. Cord-like lesions in the penis, pain, and abnormal penile curvature during erection make it impossible for many patients to have normal sexual intercourse unless treated. Symptoms may be chronic, or may spontaneously resolve in some cases. Symptoms Peyronie Disease is characterized by dense infiltration of fibrous tissue into the soft tissue of the penis. These strands of fiber may also appear in patches of various sizes on the penis (plaques). Formation of the plaques limit the elasticity of the penis, and cause pain upon erection. Symptoms may eventually lead to impotence in a few cases. In some cases, the affected tissue may become calcified. Some Peyronie's patients have been found to have deposits of excess collagen in connective tissue in other parts of the body as well. A contracture of fibrous tissue (Dupuytren's Contracture) in the hand has also been associated with some cases of Peyronie Disease. Symptoms may spontaneously resolve over long periods of time. Approximately four years is the average duration of the course of the disorder, although some symptoms may clear up more quickly. Causes The exact cause of Peyronie Disease is not known. This disorder was first identified in 1743 by Dr. de la Peyronie. Some researchers believe it may be a genetic disorder. More recent scientific evidence suggests that the disorder may possibly be induced in some cases by the use of beta-adrenergic blocking drugs such as propranolol or practolol which are used for the control of high blood pressure. It may also be caused by recurrent injury limited to a very small section of the male external genitalia. In other cases, Peyronie Disease may occur in combination with Diabetes Mellitus. Affected Population Peyronie Disease is a disorder which affects adult males, usually during the fourth and fifth decades of life. Patients have been diagnosed with this disorder ranging from eighteen to eighty years of age. According to one 1966 study, approximately 3,600 cases were noted in the world medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Peyronie Disease. Comparisons may be useful for a differential diagnosis: Balanitis Xerotica Obliterans is the result of chronic inflammation and is characterized by a hardened (indurated), pale area surrounding the end of the penis which may cause constriction. Treatment with antibacterial and anti-inflammatory drugs may be useful, but surgery may be required in some cases. Erythroplasia of Queyrat is a premalignant lesion characterized by an area of reddish, velvety discoloration on the penis. Biopsy should be considered for diagnostic purposes. Treatment consists of local application of fluorouracil cream. The following disorders may precede the development of Peyronie Disease. They can be useful in identifying an underlying cause of some forms of this disorder: Dupuytren's Contracture is characterized by contracture of the connective tissue of the palm of the hand caused by fibrous overgrowth. This condition results in flexion deformities and loss of function of the fingers. Diabetes Mellitus is a disorder in which the body does not produce enough insulin and is, therefore, unable to convert sugar and other nutrients into the energy necessary for daily activity. The disorder is not rare and it affects females and males in equal numbers. Although the exact causes of insulin-dependent diabetes are not known, genetic factors seem to play a role. (For more information on this disorder, choose "diabetes" as your search term in the Rare Disease Database and see the Diabetes section of the Prevalent Health Conditions/Concerns area of NORD Services.) Therapies: Standard In some cases, treatment of Peyronie Disease may not be required since symptoms can resolve spontaneously over an average period of one to four years. In other cases, the condition may persist and become disabling. Conservative treatment which may be useful in treating lesions include steroid dermojet (needleless pressure injection) treatments in combination with surgical incision of plaques. Collagenase injections and/or treatment with another enzyme, superoxide dismutase, may also improve lesions. Skin grafts and/or radiation therapy have been found helpful in a few severe cases which failed to respond to drug treatment. Surgery to correct the curvature of the penis may be effective, although undesirable side effects may develop. Therapies: Investigational This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Peyronie Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Peyronie's Society of America P.O. Box 3272 Wichita, KS 67201 (800) 727-7397 National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 Scleroderma Federation One Newbury St. Peabody, MA 01960 (508) 535-6600 Scleroderma Information Exchange, Inc. 150 Hines Farm Rd. Cranston, RI 02920 (401) 943-3909 United Scleroderma Foundation P.O. Box 350 Watsonville, CA 95077 (408) 728-2202 References HUMORAL IMMUNE RESPONSES IN PEYRONIE'S DISEASE PATIENTS RECEIVING CLOSTRIDIAL COLLAGENASE THERAPY: R.G. Hamilton, et al.; J Urol (March 1986, issue 135 (3)). Pp. 641-647. TREATMENT OF IMPOTENCE. 2. SURGICAL METHODS: N. Baum; Postgrad Med (May 15, 1987; issue 81(7)). Pp. 137-140. PEYRONIE'S DISEASE: C.E. Horton, et al.; Ann Plast Surg (February 1987, issue 18(2)). Pp. 122-127. PEYRONIE'S DISEASE: A METHOD OF TREATMENT: Esat Toksu; The Journal of Urology (April 1971). Pp. 523-524. Peyronie Disease pagetitle 488: Peyronie Disease 04102.TXT @$-$Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 502: Pfeiffer syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Pfeiffer Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Acrocephalosyndactyly V ACS V Noack Syndrome Information on the following diseases may be found in the Related Disorders section of this report: Acrocephalosyndactyly Apert Syndrome Crouzon Disease (Apert-Crouzon Disease) Saethre-Chotzen Syndrome Goodman Syndrome Otopalatodigital Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pfeiffer Syndrome is a very rare genetic disorder primarily affecting the bones. It is characterized by a short, pointed or conical head (acro-brachycephaly) and abnormalities of the face, jaws and teeth. Webbed fingers or toes (syndactyly) and other abnormalities of the thumbs and big toes may also occur. Symptoms can vary, ranging from mild to severe. Symptoms Pfeiffer Syndrome is characterized by bone abnormalities of the face and head (craniofacial dysostosis), including a pointed or conical head, wide-set eyes (hypertelorism), and slightly slanted eyelid folds. Pressure on the brain inside the skull may be elevated. An underdeveloped upper jaw bone, high arched palate, and prominent lower jaw may also be apparent. The teeth may erupt in the wrong places (maleruption) causing improper alignment (malocclusion) when the jaws close. The toes and fingers are partially webbed, sometimes with broad, short thumbs and big toes. One of the small bones (phalanges) in the thumb may be either triangular or trapezoid shaped and occasionally fused with the other small bone, so that the thumb points away from the other fingers. The big toe may also point excessively to the midline of the body (varus deformity). A mild hearing loss due to a defect in the middle ear may occur. Intelligence is usually normal. The opening from the stomach to the duodenum may be narrowed at birth (congenital pyloric stenosis). Spontaneous abortion of a fetus with Pfeiffer Syndrome may occur in rare cases. Causes Pfeiffer Syndrome is a genetic disorder inherited through an autosomal dominant mechanism, possibly through the action of a specific mutant gene which produces many different features (pleiotropic). (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Pfeiffer Syndrome is a very rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Pfeiffer Syndrome. Comparisons may be useful for a differential diagnosis: Acrocephalosyndactyly is the name of a group of disorders including Apert Syndrome (Type I); Crouzon Disease (Type II); Saethre-Chotzen Syndrome (Type III); Goodman Syndrome (Type IV); and, Pfeiffer Syndrome (Type V). All are characterized by a pointed head (acrocephaly) and webbing of fingers and/or toes (syndactyly). Apert Syndrome (Acrocephalosyndactyly Type I; Syndactylic Oxycephaly) is an autosomal dominant inherited disorder. It is characterized, in addition to acrocephalosyndactyly, by other skeletal and facial abnormalities, and mental retardation. (For more information on this disorder, choose "Apert" as your search term in the Rare Disease Database.) Crouzon Disease (Apert-Crouzon Disease; Acrocephalosyndactyly Type II) is a genetic disorder characterized, in addition to acrocephalosyndactyly, by brain abnormalities caused by premature joining of various bones of the skull. Vision disturbances and deafness can develop in some cases. With treatment, pressure inside the skull may be relieved and major symptoms may improve. (For more information on this disorder, choose "Crouzon" as your search term in the Rare Disease Database.) Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III) is a hereditary disorder characterized, in addition to acrocephalosyndactyly, by abnormalities of the skin on the toes and fingers. Short stature and, in some cases, mild to moderate mental retardation may also occur. (For more information on this disorder, choose "Saethre-Chotzen" as your search term in the Rare Disease Database.) Goodman Syndrome (Acrocephalosyndactyly Type IV) is a hereditary disorder characterized, in addition to acrocephalosyndactyly, by permanent lateral deviation or deflection of one or more fingers (clinodactyly), permanent flexion of one or more fingers (camptodactyly), and deviation of one of the forearm bones (ulna). Otopalatodigital Syndrome (OPD Syndrome) is a very rare sex-linked genetic disorder characterized by hearing loss due to a defect of the middle ear (conduction deafness), cleft palate, a characteristic face, and generalized abnormality of bone development (dysplasia). A broad based nose gives the patient the appearance of a boxer. Wide spacing of the toes, abnormalities of the fingers, such as a permanent deviation or deflection (clinodactyly) of the fifth finger, may also occur. Dislocation of the head of one of the forearm bones (radius), and a caved-in breast (pectus excavatum) are other features which sometimes occur. Therapies: Standard Treatment of patients with Pfeiffer Syndrome is symptomatic and supportive. Surgery to relieve pressure in the skull may be performed during childhood. The so-called "LeFort III advancement surgery" may be performed during early childhood to prevent progressive malformation of the upper jaw. Therapies: Investigational When hearing loss is caused by fixation of the small bones in the middle ear, surgical correction may be indicated. Genetic counseling is recommended for families of children with Pfeiffer Syndrome. This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pfeiffer Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 About Face 99 Crowns Lane Toronto, Ontario M5R 3PA Canada (416) 944-3223 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 For genetic information and genetic counseling referrals, please contact: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 References This report is based on outlines by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 13. VARIABLE EXPRESSION IN PFEIFFER SYNDROME: H.M. Sanchez, et al.; Journal Med Genet (February 1981: issue 18(1)). Pp. 73-75. MAXILLARY GROWTH FOLLOWING LeFort III ADVANCEMENT SURGERY IN CROUZON, APERT, AND PFEIFFER SYNDROMES: D.I. Bachmayer, et al.; American Journal Orthod Dentofacial Orthop (November 1986: issue 90(5)). Pp. 420-430. HEARING LOSS IN PFEIFFER'S SYNDROME: C.W. Cremers; International Journal Pediatr Otorhinolaryngol (December 1981: issue 3(4)). Pp. 343-353. Pfeiffer syndrome landE% H%pagetitle 502: Pfeiffer syndrome 04103.TXT @E1ECopyright (C) 1986, 1989, 1990, 1993 National Organization for Rare Disorders, Inc. 65: Phenylketonuria _________________________ ** IMPORTANT ** It is possible that the main title of the article (Phenylketonuria) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms PKU Phenylalaninemia Phenylpyruvic Oligophrenia Foelling Syndrome Classical Phenylketonuria Hyperphenylalanemia PKU1 Phenylalanine Hydroxylase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Tetrahydrobiopterin Deficiency General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Phenylketonuria (PKU) is a rare metabolic disorder of infancy caused by a deficiency of the liver enzyme phenylalanine hydroxylase. Impairment in the metabolism of the amino acid phenylalanine results in excess accumulation of phenylalanine in the fluids of the body. Phenylketonuria is a severe progressive disorder that can produce mental retardation if it is not treated early. With a carefully controlled diet, people with Phenylketonuria can avoid irreversible mental retardation. Symptoms Infants with Phenylketonuria typically appear normal at birth. Phenylpyruvic acid, a by-product of phenylalanine metabolism, may not be found in the urine during the first days of life. Some newborns (neonates) with this disorder may be weak and feed poorly. Other symptoms of Phenylketonuria in infants may include vomiting, irritability, and/or a red skin rash with small pimples (eczematoid). Infants with this disorder generally have a musty or "mousy" body odor caused by phenylacetic acid in the urine and/or perspiration. If children with Phenylketonuria are not treated, developmental retardation may be obvious at several months of age and patients are often short for their age. High levels of phenylalanine interfere with a chemical in the body that is responsible for maintaining pigmentation (melanin). Therefore, affected children usually have a fair complexion and light hair. Craniofacial abnormalities in untreated children with Phenylketonuria may include an abnormally small head (microcephaly), a prominent jaw (maxillae), widely spaced teeth, and/or impaired development of the enamel of the teeth. The skin may also become coarse. Occasionally other symptoms may include the loss of calcium from bones (decalcification), the webbing of fingers and/or toes (syndactyly), and/or flat feet. It is not understood why high levels of phenylalanine cause severe mental retardation in children with Phenylketonuria. The average IQ of untreated children is usually less than 50. Children whose mother has Phenylketonuria and carries a single defective gene for this disorder (heterozygotic), often have severe mental retardation. Neurological symptoms are present in only some patients with Phenylketonuria and may vary greatly. Seizures occur in about 25 percent of older children and abnormalities appear on brain wave tests (EEG) in 80 percent of patients. Jerky muscle movements (spasticity), abnormally tight muscles (hypertonicity), and/or increased deep tendon reflexes are among the most frequent neurological symptoms. About 5 percent of children with symptoms of Phenylketonuria become physically disabled. Slow writhing movements, involuntary muscle movements, and tremors occur in some cases. The process of surrounding nerve fibers with a fatty covering (myelinization) may be delayed but not absent in some children with Phenylketonuria. In male adults with Phenylketonuria, sperm counts may be low. Females with this disorder often have spontaneous abortions or fetal growth delays (intrauterine growth retardation). Children of women with Phenylketonuria may have an abnormally small head (microcephaly) and/or congenital heart disease. There may be some relationship between the severity of these symptoms and high levels of phenylalanine in the mother. Laboratory tests in children with Phenylketonuria typically confirm plasma levels of phenylalanine that are 10 to 60 times above normal levels. Plasma Tyrosine levels are abnormally low in the blood plasma while urinary levels of phenylalanine metabolites (i.e., phenylpyruvic acid and other phenolic acids) are abnormally high. Substances such as dopamine, serotonin, and melanin are reduced when measured by laboratory tests. There are several different varieties of Phenylketonuria or Hyperphenylalaninemias characterized by elevated plasma phenylalanine levels (not as high as those in Phenylketonuria). For example, in Tetrahydrobiopterin deficiency, neurological deterioration occurs even when phenylalanine levels are controlled (see Related Disorder Section below). Prenatal diagnosis of Phenylketonuria is available, and routine neonatal screening is required by law in the United States and in most hospitals in developed countries. The test requires a drop of blood taken from the baby's heel. Causes Phenylketonuria is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. The defective gene that causes Phenylketonuria is located on the long arm of chromosome 12. The symptoms of Phenylketonuria develop because of a defective liver enzyme, phenylalanine hydroxylase. This enzyme enables phenylalanine to be metabolized into tyrosine. The other forms of Hyperphenylalaninemia, which have symptoms that are different from those of Phenylketonuria, are the result of various deficiencies of other enzymes that are closely related to phenylalanine hydroxylase. The exact mechanism of mental retardation in Phenylketonuria is not known. Normal brain development may be disturbed by a high level of phenylalanine. It has been suggested that there may be an impairment in the process of laying down the fatty covering on nerve fibers in the brain (myelinization). It is also thought that disturbances in the formation of grouping of nerves (neuronal migration) in the first 6 months of life may contribute to the mental retardation associated with Phenylketonuria. Abnormally high levels of phenylalanine may also be caused by a deficiency of tetrahydrobiopterin because of insufficient amounts of either biopterin or dihydropterin reductase. Tetrahydrobiopterin is involved in the production of neurotransmitters (chemicals in the brain) such as serotonin, dopamine, and norepinephrine. Low levels of these neurotransmitters could account for the progressive neurological deterioration of children with Tetrahydrobiopterin in spite of controlled plasma phenylalanine. (For more information on Tetrahydrobiopterin Deficiency, see Related Disorders section of this report.) Affected Population Phenylketonuria is a rare disorder that affects males and females in equal numbers. It is estimated that Phenylketonuria occurs in 1 in 11,600 newborns in the United States. Phenylketonuria affects people from most ethnic backgrounds, although it is rare in Americans of African descent and Jews of Ashkenazi ancestry. Related Disorders Symptoms of the following disorders can be similar to those of Phenylketonuria. Comparisons may be useful for a differential diagnosis: Tetrahydrobiopterin Deficiency is a rare inherited neurological disorder of infancy that causes abnormally high levels of phenylalanine due to a deficiency of tetrahydrobiopterin. The symptoms of this disorder usually include neurological abnormalities, lack of muscle tone, loss of coordination, seizures, and/or delayed motor development. (For more information on this disorder, choose "Tetrahydrobiopterin" as your search term in the Rare Disease Database.) There are many other disorders of infancy with symptoms that are similar to those of Phenylketonuria. However, the screening test that is done for this disorder in almost every hospital allows physicians to diagnose this disorder and distinguish it from other neuromuscular or metabolic disorders. Therapies: Standard A test for Phenylketonuria prior to birth is available, and routine screening of newborns is performed in virtually all hospitals in developed countries. It is also possible to detect if a child is carrying a single defective gene that causes Phenylketonuria (heterozygotes). The goal of treatment for Phenylketonuria is to keep plasma phenylalanine levels within the normal range. This is generally achieved through carefully planned diet. Limiting the child's intake of phenylalanine must be done cautiously because it is an essential amino acid. A carefully maintained diet can prevent mental retardation as well as neurological, behavioral, dermatological, and/or brain (EEG) abnormalities. Treatment must be started at a very young age (under 3 months), or some degree of mental retardation may be expected. Many studies have demonstrated that children with Phenylketonuria who are treated with a low phenylalanine diet before the age of 3 months do well, with an average IQ of 100. If treatment is begun after the age of 2 or 3 years, only hyperactivity and seizures may be controlled. The child's behavior and plasma levels of phenylalanine must be monitored regularly. If people with Phenylketonuria stop controlling their dietary intake of phenylalanine, neurological changes usually occur during adolescence and adulthood. IQs may decline after a peak at the end of the controlled diet periods. Other problems that may appear and become severe once dietary regulation is stopped include difficulties in school, behavioral problems, poor visual-motor coordination, poor problem-solving skills, low developmental age, and/or abnormalities during brain wave testing (EEG). There is some controversy over the age at which dietary treatment can be discontinued in people with Phenylketonuria, but it is becoming clear that high levels of phenylalanine continue to harm the brain even after fatty coverings have developed around nerve fibers in the brain (myelinization). Phenylalanine intake should probably be limited indefinitely, with possibly some relaxation of dietary control. Because phenylalanine occurs in practically all natural proteins, it is impossible to meet the child's nutritional requirements by diet alone without exceeding the phenylalanine allowance. For this reason, special phenylalanine free food preparations are extremely important. These preparations include Lofenolac (for a low phenylalanine diet), and Phenyl-free (for phenylalanine free food). Both are available from Mead Johnson. Low protein foods such as fruits, vegetables, and some cereals are allowed. If the intake of phenylalanine is too severely limited in people with Phenylketonuria, the symptoms of phenylalanine deficiency may develop. These may include fatigue, aggressive behavior, severe loss of appetite (anorexia), and sometimes anemia. Both the child's behavior and plasma levels of phenylalanine must be monitored regularly. Severe forms of hyperphenylalaninemia are treated in the same way as classical Phenylketonuria. Milder forms appear to require no treatment. In tetrahydrobiopterin deficiency, a phenylalanine free diet alone does not prevent neurological deterioration. Supplementation with levodopa, carbidopa, and 5-hydroxytrytophan, in addition to dietary control, may be beneficial in these cases. Genetic counseling will be of benefit for patients with Phenylketonuria and their families. Therapies: Investigational Scientists are involved in the research and development of improved medical foods for adults with Phenylketonuria. Trials were begun in 1985 on the use of enzyme reactors for management of Phenylketonuria. In this procedure, which closely resembles dialysis, an enzyme that breaks down phenylalanine (phenylalanine hydroxylase) is produced from plant cells or small microbes. This enzyme is then chemically attached to other chemicals (fixed matrix) and placed in contact (indirectly) with the patient's blood. The enzyme, capable of rapidly metabolizing phenylalanine, lowers the levels of this enzyme in the blood. This treatment is expected to be useful primarily for pregnant women with Phenylketonuria and for the treatment of sudden peaks of phenylalanine levels that may occur with infections or other physiologically stressful conditions. For further information concerning this procedure, patients may have their physicians contact: Clara Ambrus, M.D., Ph.D. Children's Hospital 140 Hodge Ave. Buffalo, New York 14222 (716) 878-7704 Tetrahydro-L-biopterin dihydrochloride (designated RS 5678) is available for the experimental treatment of tetrahydrobiopterin deficiency phenylalaninemia. For more information, patients may have their physicians contact: Dr. B. Schirchs Schachenstrasse 4 CH 8907 Wettswil a. A. Switzerland Tel. 01 700 1645. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Phenylketonuria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Phenylketonuria Parents Group 518 Paco Drive Los Altos, CA 94022 (415) 941-9799 National Phenylketonuria Foundation P.O. Box 5129 Pasadena, TX 77508 (713) 487-4802 Phenylketonuria Collaborative Study Children's Hospital of Los Angeles P.O. Box 54700 Los Angeles, CA 90054 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20205 (301) 496-5133 National Association for Retarded Citizens of the U.S. P.O. Box 6109 Arlington, TX 76005 (817) 261-4961 (800) 433-5255 National Institute on Mental Retardation York University Kinsmen NIMR Building 4700 Keele Street, Downview Toronto, Ont. M3J 1P3 Canada (416) 661-9611 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1629-1638. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 318-329. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1101-2. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 2235-2236. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1382-1383. NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman et al; W.B. Saunders Co., 1992. Pp. 307-309. BIOCHEMICAL AND NEUROPHSYCHOLOGICAL EFFECTS OF ELEVATED PLASMA PHENYLALANINE IN PATIENTS WITH TREATED PKU. Krause W., et al. J Clin Inv Jan 1985; 75(1):40-48. PRELIMINARY SUPPORT FOR THE ORAL ADMINISTRATION OF VALINE, ISOLEUCINE AND LEUCINE FOR PHENYLKETONURIA. Jordan M.K., et al. Devel Med Child Neurology 1985; 27:33-39. LOSS OF INTELLECTUAL FUNCTION IN CHILDREN WITH PHENYLKETONURIA AFTER RELAXATION OF DIETARY PHENYLALANINE RESTRICTION. Seashore M., et al. Pediatrics Feb 1985; 75(2):226-232. ABNORMALITIES IN AMINO ACID METABOLISM IN CLINICAL MEDICINE. Nyhan, W.L., Norwalk, Connecticut: Appleton-Century-Crofts, 1984. TETRAHYDROBIOPTERIN DEFICIENCIES: PRELIMINARY ANALYSIS FROM AN INTERNATIONAL SURVEY. Dhondt J.L., J Pediatr (April 1984; 104(4)). Pp. 501-8. PHENYLKETONURIA AND ITS VARIANTS: S. Kaufman; Adv Hum Genet (1983;13). Pp. 217-97. DIET TERMINATION IN CHILDREN WITH PHENYLKETONURIA. A REVIEW OF PSYCHOLOGICAL ASSESSMENTS USED TO DETERMINE OUTCOME. Waisbren S.E., et al. J Inherited Metab Dis (1980; 3(4)). Pp. 149-53. Phenylketonuria basCF FFpagetitle 65: Phenylketonuria 04104.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 533: Pheochromocytoma _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pheochromocytoma) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Chromaffin Cell Tumor Adrenal Tumor Information on the following diseases can be found in the Related Disorders section of this report: Sipple's Syndrome Neurofibromatosis (von Recklinghausen's Disease) von Hippel-Lindau Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pheochromocytoma is a rare disorder caused by tumors in the adrenal glands. It may or may not be a genetically-caused disorder. It is characterized by high blood pressure which does not respond to ordinary treatment. Symptoms Major symptoms of Pheochromocytoma may include high blood pressure, rapid breathing and heart beat, profuse sweating, flushed, cold and clammy skin, and severe headache. Angina (pain in the heart), palpitations of the heart, nausea, vomiting, stomach pain, visual disturbances, tingling sensations, constipation and an abnormal sense of impending doom may also occur. Causes Pheochromocytoma is caused by the development of tumors in the adrenal glands. The tumors may also develop along certain nerve pathways. This disorder may appear for no apparent reason or in some cases may be inherited through an autosomal dominant gene with incomplete penetrance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Incomplete penetrance means that all characteristics of a particular trait may not be manifested in all those who inherit the gene). Affected Population Pheochromocytoma affects males and females in equal numbers. People of any age can be affected, but symptoms usually appear before fifty years of age. Related Disorders Symptoms of the following disorders can be similar to those of Pheochromocytoma. Comparisons may be useful for a differential diagnosis: Sipple's Syndrome is characterized by adrenal tumors associated with tumors of other endocrine glands such as thyroid and parathyroid. Neurofibromatosis (von Recklinghausen Disease) is a genetic disorder with highly variable manifestations which can affect many body systems. The disease is characterized by multiple nerve tumors under the skin which can result in disfigurement, and other complications. (For more information on this disorder, choose "Neurofibromatosis " as your search term in the Rare Disease Database). von Hippel-Lindau Disease is an hereditary disorder characterized by headache, dizziness and failure of muscular coordination. Uncontrollable high blood pressure, the presence of tumors in the adrenal glands (pheochromocytoma) and abnormalities in the blood vessels of the retina may also occur. ( For more information on this disorder, choose "von Hippel" as your search term in the Rare Disease Database.) Therapies: Standard Diagnosis of Pheochromocytoma may be confirmed through urine testing, lack of responsiveness to drug treatment of the high blood pressure, and magnetic resonance imaging (MRI). This fairly new technique has proven superior to the use of x-rays for soft tissue diagnosis. Treatment of Pheochromocytoma usually involves the surgical removal of the tumor. Other treatment is symptomatic and supportive. Genetic counseling may be indicated in some cases when Pheochromocytoma occurs in families. Therapies: Investigational This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pheochromocytoma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References LOCALIZATION OF ECTOPIC PHEOCHROMOCYTOMAS BY MAGNETIC RESONANCE IMAGING: J.E. Schmedt, et al.; Am J Med ( October, 1987: issue 83 (4)). Pp. 770-772. CLINICALLY UNSUSPECTED PHEOCHROMOCYTOMAS. EXPERIENCE AT HENRY FORD HOSPITAL AND A REVIEW OF THE LITERATURE: N.K. Krane; Arch Intern Med (January, 1986: (issue 146 (1)). Pp. 54-57. DIAGNOSIS AND MANAGEMENT OF PHEOCHROMOCYTOMA: G.W. Gifford, et al.; Cardiology (1985; 72 Suppl. 1). Pp. 126-130. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 557-559, 1962-1966, 2302 Pheochromocytoma_ pagetitle 533: Pheochromocytoma 04105.TXT $Copyright (C) 1990, 1992 National Organization for Rare Disorders, Inc. 780: Phocomelia Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Phocomelia Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Roberts SC-Phocomelia Syndrome SC Phocomelia Syndrome Roberts Tetraphocomelia Syndrome Disorder Subdivisions Roberts SC-Phocomelia Syndrome Thalidomide Syndrome Information on the following disease can be found in the Related Disorders section of this report: Thrombocytopenia-Absent Radius (TAR) Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Phocomelia Syndrome is a birth defect that may be occur sporadically or be genetically transmitted in some cases. In other cases it may be caused by toxins (such as certain drugs) taken by a pregnant woman. Major symptoms may include growth and mental deficiencies, defects in the eyes, ears, and nose, and characteristic deficient limb development affecting the arms and possibly the legs. Symptoms The primary symptom of Phocomelia Syndrome is deficient limb development. However, the defects of the limbs are variable. Commonly, the upper limbs are affected and sections of the hands and arms may be malformed or missing. The legs and the feet may also be affected. The hands and/or the feet may be attached close to the body or the limbs may be abnormally small. Individuals with Phocomelia Syndrome usually have growth deficiencies before and after birth. In some cases, they also may be mentally retarded. The head may be small with sparse hair that may be silvery-blond. A swelling or mass of blood vessels (hemangioma) may occur on the face. Prominent widely-set eyes (hypertelorism) that have bluish whites, an underdeveloped nose with thin nostrils, malformed ears, cleft lip with or without cleft palate, and small jaws (micrognathia) may also occur. The testes of males may fail to descend (cryptochidism). Less common symptoms include: a gap in the skull with the brain possibly protruding (encephalocele); accumulation of excess spinal fluid under the skull (hydrocephalus) which may cause headaches, vomiting, and convulsions; and small eyeballs (microphthalmia), corneal clouding, cataracts, and eyelid defects. The urethra (the tube leading from the bladder) may open underneath the penis or in females may open into the vagina (hypospadias). An abnormally shaped uterus (bicornate), an abnormally low level of platelets in the blood (thrombocytopenia), kidney and heart abnormalities, a short neck, and cranial nerve paralysis may also occur. Disorder Subdivisions When Phocomelia is caused by drugs, it is usually thought of as the Thalidomide Syndrome. This type of Phocomelia is characterized by severe defects and is caused by the ingestion of the drug Thalidomide (a tranquilizer) during early pregnancy. Thalidomide was widely used outside the United States in the late 1950's and early 1960's. Symptoms may include: limb defects of the arms or all of the limbs, abnormalities of the eyes and the ears with possible deafness, paralysis of the face with possible limited eye movements, heart defects, abnormal passages (fistulas) between the rectum, urethra, and/or vagina, abnormalities of internal organs (such as the gallbladder, appendix, small intestine, and uterus), and failure of the testes to descend in males (cryptochidism). A small percentage of individuals have spinal abnormalities and/or growth deficiencies. This type of Phocomelia can also be caused by the acne drug Accutane. Roberts SC-Phocomelia Syndrome is a birth defect that is genetically inherited through recessive genes and may represent Phocomelia in its mildest form. There have been a number of patients exhibiting overlap of symptoms between the Roberts SC Syndrome and the Thalidomide Syndrome. The two disorders may be different expressions of a gene or represent variable severity of the same disorder. Causes In the cases where Phocomelia Syndrome is inherited, it is transmitted by autosomal recessive genes. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In other cases Phocomelia Syndrome can occur as a result of a woman taking certain drugs during pregnancy or other unknown reasons. The drug Thalidomide caused an unusual surge of babies born with Phocomelia during the 1960's, and the drug Accutane (for treatment of acne) can also cause Phocomelia. Affected Population The hereditary form of Phocomelia is a very rare disorder affecting only a dozen or more babies born each year. Males and females are affected in equal numbers. An upsurge of the number of Phocomelia cases can signal that certain drugs are causing this birth defect. Thalidomide (a tranquilizer) and Accutane (for treatment of acne) can cause Phocomelia in a fetus when ingested by a pregnant woman. Related Disorders Symptoms of the following disorder can be similar to those of Phocomelia Syndrome. Comparisons may be useful for a differential diagnosis: There are many birth defects that can cause malformed or missing limbs. One of these is Thrombocytopenia-Absent Radius (TAR) Syndrome. TAR Syndrome is a genetic disorder characterized by a very low level of the number of platelets in the blood (thrombocytopenia) and the absence or underdevelopment of one of the short bones (radius) in the arm. Thrombocytopenia may cause excessive bleeding from the skin, mucous membranes (thin moist layer lining the body's cavity), or within the skull. Other blood disorders may also occur. The underdevelopment of the other short bone (ulna) of the arm, and defects of the hands, legs, and/or feet may also occur. (For more information on this disorder, choose "TAR" as your search term in the Rare Disease Database). Therapies: Standard Treatment and rehabilitation of the limb deformities of Phocomelia Syndrome should be planned in infancy. Individual prostheses (artificial limbs) and orthopedic braces or appliances (ortheses) may be needed. Genetic counseling may be of benefit for patients and their families if the child has the genetic form of this disorder. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Phocomelia Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Association of Children's Prosthetic and Orthotic Clinics (ACPOC) 317 E. 34th Street New York, NY 10016 National Rehabilitation Information Center (NARIC) 8455 Colesville Road, Suite 935 Silver Spring, MD 20910 (202) 635-5826 Thalidomide Society 19 Upper Hall Park Berkhamsted, Herts HP4-2NP England For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 584, 907. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones; W.B. Saunders Co., 1988. Pp. 256-7. ROBERTS-SC PHOCOMELIA SYNDROME: CYTOGENETIC FINDINGS AND CLINICAL VARIABILITY IN THREE BROTHERS: G. Antinolo et al.; An Esp Pediatr (September, 1988, issue 29(3)). Pp. 239-43. TREATMENT AND REHABILITATION OF DYSMELIC CHILDREN: L. Kullmann; Magy Traumatol Orthop Helyreallito Sebesz (1989, issue 32 (2)). Pp. 99-106. Phocomelia Syndrome &pagetitle 780: Phocomelia Syndrome 04106.TXT !Copyright (C) 1992 National Organization for Rare Disorders, Inc. 914: Phosphoglycerate Kinase Deficiency _________________________ ** IMPORTANT ** It is possible that the main title of the article (Phosphoglycerate Kinase Deficiency) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PGK Phosphoglycerokinase Anemia, Hemolytic Erythrocyte Phosphoglycerate Kinase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Anemia, Hemolytic, Warm Antibody Anemia, Hemolytic, Acquired Autoimmune Anemia, Sideroblastic Anemia, Aplastic General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Phosphoglycerate Kinase Deficiency is an extremely rare X-linked genetic metabolic disorder. Major symptoms may include chronic anemia, neurologic impairment and muscle problems. Symptoms Phosphoglycerate Kinase Deficiency affects males severely. However, one female demonstrated only anemia. Males may have mild to severe neurologic dysfunction including possible mental retardation, paralysis, seizures and/or movement disorders. They may also have behavioral problems, severe anemia and may even lapse into coma during a crisis. Muscles may be painful and there may be breakdown of muscle tissue with the passing of red-brown urine. Weakness, fatigue, and difficulty in exercising may also occur. Causes Phosphoglycerate Kinase Deficiency causes an instability in the red blood cells and neurological problems. This genetic disorder is an X-linked inborn error of metabolism. The gene is on the long arm of the X chromosome at Xq13. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Phosphoglycerate Kinase Deficiency is a very rare disorder that affects both males and females. Males have a more serious form of the disorder. The disorder can be diagnosed at birth when enzymatic testing is done. Only approximately 12 persons with PGK deficiency have been noted in the medical literature. A large Chinese family of several generations has been studied and other persons of other nationalities have also participated in genetic studies of the disorder. There may be more people affected but symptoms can be so minor as to go undiagnosed. Related Disorders Symptoms of the following disorders can be similar to those of Phosphoglycerate Kinase Deficiency. Comparisons may be useful for a differential diagnosis: Warm Antibody Hemolytic Anemia is an autoimmune disorder characterized by the premature destruction of red blood cells by the body's natural defenses against invading organisms (antibodies). The severity of the anemia is determined by the amount of time the red blood cells survive. (For more information on this disorder, choose "Warm Antibody, Hemolytic Anemia" as your search term in the Rare Disease Database). Acquired Autoimmune Hemolytic Anemia is an autoimmune disorder characterized by the premature destruction of red blood cells. It occurs in individuals who previously had a normal red blood cell system. The disorder commonly occurs as the result of, or in conjunction with some other medical condition. (For more information on this disorder, choose "Acquired Autoimmune Hemolytic Anemia" as your search term in the Rare Disease Database). Sideroblastic Anemia is a blood disorder characterized by an impaired ability of the bone marrow to produce normal red blood cells. It is characterized by general weakness, fatigue and difficulty breathing. (For more information on this disorder, choose "Sideroblastic Anemia" as your search term in the Rare Disease Database). Aplastic Anemia is characterized by bone marrow failure. The disorder may occur for unknown reasons (idiopathic) or it may be the result of a toxic reaction to radiation, certain drugs, or chemicals. The patient may first become aware of the disease by the progressive onset of weakness, fatigue, and lassitude. (For more information on this disorder, choose "Aplastic Anemia" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Phosphoglycerate Kinase Deficiency may consist of iron supplements and blood transfusions when needed. The disorder is apparent at birth when enzymatic testing of the blood is done. The avoidance of strenuous exercise when evidence that muscle breakdown has taken place is very important and special care is needed during neurologic crisis to avoid life-threatening situations. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on inborn errors of metabolism is ongoing. Scientists are studying the causes of these disorders and trying to design enzyme replacement therapies that will return a missing enzyme to the body. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of hereditary disorders in the future. This disease entry is based upon medical information available through May 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Phosphoglycerate Kinase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Road Crewe CW1 1XN, England (0270) 250244 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1422, 1704. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. P. 2351. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., P. 359. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. P. 127. X-LINKED SIDEROBLASTIC ANEMIA AND ATAXIA: LINKAGE TO PHOSPHOGLYCERATE KINASE AT Xq13., W.H. Raskind, et al.; Am J Hum Genet, February, 1991, (issue 48 (2)). Pp. 335-341. CLONALITY IN MYELOPROLIFERATIVE DISORDERS: ANALYSIS BY MEANS OF THE POLYMERASE CHAIN REACTION., D.G. Gilliland, et al.; Proc Natl Acad Sci USA, August 1, 1991, (issue 88 (15)). Pp. 6848-6852. RED CELL ENZYMOPATHIES OF THE GLYCOLYTIC PATHWAY., K.R. Tanaka, et al.; Semin Hematol, April, 1990, (issue 27 (2)). Pp. 165-185. Phosphoglycerate Kinase Deficiency "pagetitle 914: Phosphoglycerate Kinase Deficiency 04107.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 214: Pica _________________________ ** IMPORTANT ** It is possible the main title of the article (Pica) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Eating Disorder Pica Eating Disorder General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pica is an eating disorder which is characterized by the repeated eating of non-nutritive substances over a period of one month or longer. Patients may eat non-edible objects such as paint, plaster, dirt, ice, or laundry starch. Pica generally affects small children, pregnant women, and people whose cultural environment is most compatible with the eating of non-food items. Symptoms Onset of Pica is generally between 12 to 24 months of age. Infants typically eat paint, plaster, string, hair or cloth. Older children may eat substances such as animal droppings, sand, bugs, leaves or pebbles. Aversion to food is absent. Complications of the disorder are lead poisoning (from eating lead-based paints) and hairball tumors. Non-food items such as laundry starch, clay, dirt, stones, chalk and limestone are other substances which may be craved by Pica patients. Children usually outgrow Pica. Rarely adults may manifest the disorder. Pregnant women sometimes have a craving for unusual foods like pickles or ice and rarely non-food items. For more information on Pica, see the related article in the Prevalent Health Conditions/Concerns area of NORD Services. Causes While a relationship between Pica and iron deficiency has been suggested, a cause and effect relationship has not yet been proven. Some substances which are craved by patients with this disorder interfere with the body's absorption of iron from food. Some authorities believe that Pica is a learned pattern of behavior while others theorize that it is due to other cultural, psychological and physiological factors or a combination of these factors. In many cases, correction of iron or other deficiencies in the patient may eliminate the abnormal craving which characterizes this disorder. Affected Population Pica can begin as early as the age of one year and is usually outgrown by six or seven years of age, but some cases persist until puberty. Some adult women, particularly pregnant women, can suffer from this disorder. Severely retarded people often must be monitored to protect them from eating non-edible substances. Therapies: Standard Treatment of Pica mainly consists of preventing patients from eating the craved, non-nutritive substances. Psychiatric counseling aimed at behavior modification is often recommended. However, for certain cultural reasons, some Pica clay and starch eaters may persist in occasionally eating a lump or two of these items. When mineral imbalances can be identified in people who have Pica, the imbalance should be corrected with vitamin and/or mineral supplements. In many cases correction of these deficiencies will stop or reduce the craving for inedible substances. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pica, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Mental Health Association 1021 Prince St. Alexandria, VA 22314 (703) 684-7722 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1101. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 880, 896-7. Pica3 pagetitle 214: Pica 04076.TXT ,Z,Copyright (C) 1984, 1985, 1987, 1988, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 11: Paget's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Paget's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Congenital Hyperphosphatasemia Corticalis Deformans Formans Hyperostosis Corticalis Deformans Hyperphosphatasemia Osteitis deformans Paget's Disease of Bone Pozzi's Information on the following diseases can be found in the Related Disorders section of this report: Osteoporosis Osteoarthritis Engelmann Disease Hypophosphatasia Spinal Stenosis Hyperostosis Frontalis Interna General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Paget's disease of the bone is a chronic, slowly progressive skeletal condition of abnormally rapid bone destruction (osteolytic) and reformation (osteoblastic). The new bone is structurally abnormal, dense and fragile. The bones most frequently affected are in the spine, skull, pelvis and lower legs. Symptoms Early symptoms of Paget's disease include bone pain, joint pain (especially in the back, hips and knees), and headache. Physical signs include enlargement and bowing of the thighs (femurs) and lower legs (tibias), and enlargement of the skull in the area of the forehead. As the disease progresses, other signs and symptoms often appear. These may include further bowing of the affected limbs, a waddling manner of walking (gait), muscle and sensory disturbances, and hearing loss. Congestive heart failure (high-output) may occur. Tumors of the bone (osteogenic sarcoma) are a rare complication. Most cases of Paget's disease are without symptoms (asymptomatic) and are mild. These may be identified through x-rays of the pelvis. When symptoms occur, they are often vague and hard to distinguish from those of many other bone diseases such as lumbar spine diseases or osteoarthritis. Diagnosis is confirmed through blood tests including serum calcium and phosphorus and elevated serum alkaline phosphatase as compared with other inflammatory bone diseases. These other bone conditions usually do not have elevated serum alkaline phosphatase. X-rays showing characteristic lesions on the back of the head (occiput) and thigh bones (femur) are important diagnostic findings. Causes The exact cause of Paget's Disease is not known. Recent scientific research at the National Institutes of Health suggests that Paget's disease may be caused by a slow virus. This type of condition involves a virus which may stay dormant in the body for many years, and then reactivate later in life causing disease symptoms. It is not known whether a person must be genetically predisposed in order to harbor these types of viruses. More research is needed to determine whether genetic and/or slow virus factors are involved in the cause of this disorder. It is possible that Paget's Disease may have a genetic factor. In a few families the disorder appears to have been inherited through a dominant gene on the X chromosome. However, most cases of Paget's disease do not appear to fit this pattern of inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However the affected male always has a more severe condition. Affected Population Paget's Disease most frequently occurs in men but it is more severe when it affects women. There may be as many as three million cases in the United States, but it is rarely diagnosed properly. Many people may have symptoms so mild that they do not seek treatment. The symptoms of Paget's disease occur most frequently between the ages of 50 and 70, though it has been known to affect younger adults. Those with a Western European heritage are more likely to have the disease. Related Disorders Symptoms of the following disorders can be similar to those of Paget's Disease. Comparisons may be useful for a differential diagnosis. Osteoporosis is a disorder of the bones that is characterized by a decrease in the density and weight of bones (rarefaction). This can lead to fractures after even minor trauma. Osteoporosis can occur frequently in post-menopausal women or people that are immobile or sedentary. This disorder may cause pain, especially in the lower back, and a variety of deformities. Osteoarthritis is a form of arthritis that causes the degeneration of joints in the body. Initially osteoarthritis is a noninflammatory disease and causes the gradual deterioration of the cartilage of the joints. This is the most common form of arthritis and it usually occurs in older people. Symptoms may include pain and stiffness particularly in the morning or after prolonged rest. Engelmann Disease is a rare genetic bone disorder. Symptoms include muscle weakness, bone pain, an unusual way of walking (gait), extreme fatigue and loss of appetite (anorexia). This may lead to a general appearance of being malnourished. Symptoms usually begin in childhood. Bone pain can be severe especially in the femur. The bones at the base of the skull may be affected. (For more information on this disorder, choose "Engelmann Disease" as your search term in the Rare Disease Database). Hypophosphatasia is a genetic metabolic disorder that is characterized by the loss of bone (demineralization). It can occur in infants, children or adults. In infants, the loss of calcium may be associated with a weakening or bending of the bones. However, in hypophosphatasia there is a low serum alkaline phosphatase as opposed to an elevated level in people with Paget's disease. (For more information on this disorder, choose "Hypophosphatasia" as your search term in the Rare Disease Database). Spinal stenosis is characterized by a constriction or compression of the space within the spinal canal, nerve root canals or vertebrae. This compression may lead to limping and other difficulties with walking, the inability to retain urine (urinary incontinence), temporary paralysis of the legs, and pain or burning sensations in the lower back and legs. Progressive loss of muscle control may also occur. (For more information on this disorder, choose "Spinal Stenosis" as your search term in the Rare Disease Database). Hyperostosis Frontalis Interna is a disorder in which there is an excessive growth or thickening of the frontal bone of the skull. This disorder has been found in connection with other conditions such as obesity, headaches, seizures, diabetes insipidus and disturbances of the sexual glands. Other symptoms may include sudden, uncontrollable electrical discharges of the brain which may cause convulsions or loss of consciousness, decreased vision, and the appearance of secondary male sexual characteristics in women (virilization). There are increased levels of serum alkaline phosphatase and serum calcium in people with Hyperostosis Frontalis Interna. (For more information on this disorder, choose "Hyperostosis Frontalis Interna" as your search term in the Rare Disease Database). Therapies: Standard Treatment for Paget's disease is symptomatic and focuses on relieving pain, preventing deformity, fractures, and the loss of mobility. Diphosphonates are effective medications for the treatment of Paget's disease and are given to people intermittently for periods not exceeding six months. During that time the patient is monitored closely for levels of alkaline phosphatase in the blood. In patients who do not respond to Diphosphonates, Calcitonin and Mithramycin (a cytotoxic antibiotic used with great caution) may help slow down the rate of bone breakdown and bone turnover. Therapies: Investigational Research on Paget's disease is ongoing in the area of bone tissue reformation; how Paget's Disease affects the synthesis of collagen; the role of calcitonin, parathyroid, and other hormones in Paget's patients; and on the development of a method to assess bone turnover in Paget's patients. Research is being conducted on the use of calcitonin on Paget's patients who have not responded to or have had side effects from the use of diphosphonates. Please contact: University of Miami School of Medicine Division of Arthritis (VA111) P.O. Box 016960 Miami, FL 33101 (305) 547-5735 Att: Roy D. Altman, M.D. For research currently investigating the cause of Paget's disease (including viral causes) and for possible clinical studies please contact: Columbia Presbyterian Medical Center Dept. of Medicine 630 W. 168th Street New York, NY (212) 694-3526/5731 Attn: Robert Canfield, M.D., Ethel Siris, M.D., or Thomas Jacobs, M.D. The Food and Drug Administration (FDA) has awarded a research grant to Ethel S. Siris, M.D., Health Sciences, Columbia University College of Physicians & Surgeons, New York, NY, for studies on oral calcium as a treatment for Paget's disease. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Paget's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Paget's Disease Foundation, Inc. (and other diseases of bone resorption) 200 Varick St., Suite 1004 New York, NY 10014-4810 (212) 229-1582 (800) 23-PAGET (212) 229-1582 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 426-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 703. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1431-1433. PAGET'S DISEASE OF BONE, R.L. Merkow and J.M. Lane; Orthop Clin North Am (January, 1990; 21(1)). Pp. 171-189.171-189. Paget's Disease -pagetitle 11: Paget's Disease 04077.TXT 'Copyright (C) 1990 National Organization for Rare Disorders, Inc. 787: Paget's Disease of the Breast _________________________ ** IMPORTANT ** It is possible that the main title of the article (Paget's Disease of the Breast) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Nipple Cancer Adenocarcinoma of the Nipple Paget's Disease of the Nipple Mammary or Extramammary Paget's Disease Extramammary Paget's Disease Information on the following diseases can be found in the Related Disorders section of this report: Bowen's Disease Malignant Melanoma Psoriasis Mycosis Fungoides Eczema General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Paget's Disease of the Breast is a very rare form of cancer. It is characterized by skin changes resembling eczema around the nipple and breast. It may also occur in the skin areas of the genitals and rectum. When it spreads to these areas of the body Paget's Disease of the Breast is called Extramammary Paget's Disease. Paget's Disease of the Breast often signals the existence of other internal cancer. It can occur in men as well as women. Paget's Disease of the Breast is not Paget's Disease of the bones. For more information about the type of Paget's Disease that effects the bones, choose "Paget's" as your search term in the Rare Disease Database. Symptoms Paget's Disease of the Breast is characterized by scaling, oozing and sharply defined inflamed patches on the skin of the nipple and areola of the breast. This disorder occurs in both men and women. It is nearly always associated with glandular (adenocarcinoma) cancer of the breast. It may or may not spread to the genital and rectal areas. If it does spread, Paget's Disease of the Breast is called Extramammary Paget's disease. When spreading occurs the Extramammary Paget's Disease is characterized by itchy, patchy, crusty areas with well defined borders that may include the lower abdominal wall, naval area, vagina, and rectum in women. In men the rectum, prostate, urethra and other parts of the genital and urinary tracts may be involved. When detected early and involving only the nipple area of the breast, the cure rate for Paget's Disease of the Breast is very high. However, when extramammary tissue is involved the treatment is more difficult. Causes The exact cause of Paget's Disease of the Breast and Extramammary Paget's Disease is not known. Since the disorder arises from skin (epidermotropic) cancer cells in the connective tissue layer (parenchyma) of the breast, some scientists believe that this type of cancer may be an early warning sign of more common breast cancers or other internal forms of cancer. Affected Population Paget's Disease of the Breast is a very rare from of cancer. It affects both males and females. However, the ratio is much higher in women than in men, and the age of onset is usually after the age of fifty. Related Disorders Symptoms of the following disorders can be similar to those of Paget's Disease Comparisons may be useful for a differential diagnosis: Bowen's Disease is a precancerous, slow growing skin malignancy. The major symptom is a red-brown, scaly or crusted patch on the skin which resembles psoriasis or dermatitis. It may occur on any part of the skin or in the mucous membranes. The patch is usually irregular in shape and causes a raised area which shows an oozing red surface when the crust is scratched or removed. Like many forms of skin cancer, chronic sun exposure may cause it to develop. (For more information on this disorder, choose "Bowen" as your search term in the Rare Disease Database). Malignant Melanoma is a common form of skin cancer. It is marked by tumors of the pigmentation cells (melanocyte) of the skin. These tumors may appear in different sizes, shapes, and shades of color, and may spread to adjacent parts of the body. Tumors may also spread through the blood and lymph circulation to other organs. Early treatment of malignant Melanoma is essential in order to cure the disease. (For more information on this disorder, choose "Malignant Melanoma" as your search term in the Rare Disease Database). Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots or plaques which usually appear on the scalp, elbows, or knees. Symptoms may begin gradually. Psoriasis characteristically involves the scalp, extremities, the back and buttocks with sharply outlined lesions consisting of red spots or plaques covered with scales that usually do not itch. These lesions may heal without scarring and hair growth near the plaques is not affected. In severe cases, Psoriasis lesions may appear in pustular form. General health usually is not affected, unless severe arthritis (psoriatic arthritis) or untreatable scaling develops. However, stress may be caused by the stigma of an unsightly skin disorder. (For more information on these disorders, choose "Psoriasis" or "Psoriatic Arthritis" as your search terms in the Rare Disease Database). Mycosis Fungoides is a chronic progressive lymphocyte disorder arising in the skin. In advanced cases, ulcerated tumors and infiltration of lymph nodes by diseased cells may occur. The disorder may spread to other parts of the body including the gastrointestinal system, liver, spleen, or brain. Itching, pain, skin plaques, fever, weight loss and anemia may occur. The cause is unknown. It is thought to be a malignant growth of lymph tissue originating in the skin. (For more information on this disorder, choose "Mycosis Fungoides" as your search term in the Rare Disease Database). Eczema is a very prevalent skin disorder characterized by red, itchy, non-contagious inflammation of the skin. It may be acute or chronic with red skin patches, pimples, crusts, or scabs occurring either alone or together. The skin may be dry or it may discharge a watery fluid, resulting in an itching or burning sensation. The affected skin may become infected. Eczema tends to occur in persons who have allergies. Therapies: Standard Treatment of Paget's Disease of the Breast involves determining exactly which type of Paget's is present. When there is disease of the nipple of the breast with no lymph nodes affected, surgery is usually performed to remove the affected area. Radiation and/or chemotherapy with or without surgery may also be necessary. If there is lymph node involvement as well as disease of the nipple, surgery may involve a simple or radical mastectomy and radiation treatment. If the Paget's is present because of other underlying cancer of the breast, then that cancer is treated first and the Paget' treatment is determined by the type of other cancer found. When the patient has Extramammary Paget's the treatment is determined by the organs affected. One of the most effective tools in diagnosing breast cancers is mammography. However, in many cases of Paget's Disease of the Breast no mass is present and a mammogram may not indicate presence of a malignancy. In this situation the nipple wedge biopsy may show Paget's Disease of the Nipple as well as intraduct carcinoma of the breast. Anti-Keratin antibody staining is also a very helpful technique used by physicians to determine the exact type of Paget's Disease of the Breast the patient has. Other treatment is symptomatic and supportive. Therapies: Investigational Research on all types of breast cancer is being pursued at the National Cancer Institute. For information about investigational therapies and clinical trials contact the National Cancer Institute listed in the Resources section of this report. This disease entry is based upon medical information available through August 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Paget's Disease of the Breast, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Skin Cancer Foundation 475 Park Avenue, South New York, NY 10001 212-725-5176 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs In Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, 808-524-1234 (Neighbor islands call collect) References PAGET'S DISEASE OF THE BREAST, J.A. Sanchez, et al.; Am Fam Physician (August, 1987, issue 36 (2)). Pp. 145-147. MAMMOGRAPHY IN THE SYMPTOMATIC WOMAN. S. Edeiken, Cancer, (April, 1989, issue 1; 63 (7)). Pp. 1412-1414. RADIOTHERAPY FOR PAGET'S DISEASE OF THE NIPPLE: A CONSERVATIVE ALTERNATIVE. A.D. Stockdale, et al.; (September, 1989, issue 16;2 (8664)). Pp. 664-666. THE HISTOGENESIS OF MAMMARY AND EXTRAMAMMARY PAGET'S DISEASE, R.R. Jones, et al,; Histopathology (April, 1989, issue 14 (4)). Pp. 409-416. Paget's Disease of the Breast (pagetitle 787: Paget's Disease of the Breast 04078.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 512: Pallister-Killian Mosaic Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pallister-Killian Mosaic Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Chromosome 12, Isochromosome 12p Mosaicism Killian Syndrome Killian/Teschler-Nicola Syndrome Pallister Mosaic Syndrome Pallister Mosaic Syndrome Tetrasomy 12p Teschler-Nicola/Killian Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Chromosome 12, Partial Trisomy 12P Hypomelanosis of ITO General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present. Symptoms Patients with Pallister-Killian Mosaic Syndrome typically have low muscle tone at birth, sparse scalp hair, a high forehead, a coarse face, an abnormally wide space between the eyes, a broad nasal bridge, a highly arched palate, a fold of the skin over the inner corner of the eyes, and large ears with lobes that are thick and protrude outward. Other features frequently found in patients with this disorder may include: streaks of skin in which there is no color (hypopigmentation), extra nipples, seizures, droopy upper eyelids, crossed eyes (strabismus), joints that will not move (contractures), and delays in perceiving, recognizing, judging, sensing, reasoning or imagining (cognitive delays). Congenital heart defects, hernia's of the diaphragm, a narrowing of the external auditory canal (stenosis) and an abnormal opening in the anus have also been associated with Pallister-Killian Mosaic Syndrome. Causes Pallister-Killian Mosaic Syndrome is caused by tetrasomy for chromosome 12p. Patients with Pallister-Killian Mosaic Syndrome have four copies of the short arm of chromosome 12 instead of the normal two. All recorded cases of this disorder have been sporadic (not believed to be hereditary). Affected Population Pallister-Killian Mosaic Syndrome is a very rare disorder that affects males and females in equal numbers. There have been approximately 30 cases of this disorder reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Pallister-Killian Mosaic Syndrome. Comparisons may be useful for a differential diagnosis: Hypomelanosis of ITO is a rare disorder in which the main characteristic is lesions of the skin. A whorl-like lack of pigmentation of the skin may occur on any part of the body except the soles, palms, and scalp. Over half of the patients with this disorder may have seizures, mental retardation, crossed eyes, nearsightedness, a cleft along the edge of the eyeball (coloboma), an abnormally small head and/or an abnormal overgrowth of brain tissue (megalencephaly). Autosomal dominant inheritance has been suggested in some cases. Chromosome 12, Partial Trisomy 12P, is a rare genetic disorder in which there is a triplicated section of the short arm of the 12th chromosome. Patients with this disorder have a lack of muscle tone (hypotonia), growth retardation, and distinct facial features such as a flat upturned nose with a wide bridge, shallow eye sockets, a vertical fold of the skin over the inner corner of the eye, an upward slant of the opening between the upper and lower eyelids, a long thick lower lip, a large tongue and short broad hands with the fifth finger bent to the side. Chromosome 12, Partial Trisomy 12P affects females twice as often as males. Therapies: Standard Pallister-Killian Mosaic Syndrome can be diagnosed prenatally by removing a small amount of fluid that is in the womb during pregnancy (amniocentesis), or by studying the cell parts that concern heredity, especially chromosomes (cytogenetic) in bone marrow. Children with Pallister-Killian Mosaic Syndrome may benefit from early intervention programs and special education. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. This disease entry is based upon medical information available through March 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pallister-Killian Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Pallister-Killian Family Support Group 4255 5th Ave., SW Naples, FL 33999 (813) 455-0400 Association for Retarded Citizens of the U.S. P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 1-800-433-5255 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10505 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W. B. Saunders Co., 1988. Pp. 176. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1353. PRENATAL DIAGNOSIS OF PALLISTER-KILLIAN SYNDROME: S. Soukup, et al.; Am J Med Genet (April, 1990, issue 35(4)). Pp. 526-8. MOSAICISM IN PALLISTER i(12p) SYNDROME: S.L. Wenger, et al.; Am J Med Genet (April, 1990, issue 35(4)). Pp. 523-5. PALLISTER-KILLIAN MOSAIC SYNDROME WITH EMPHASIS ON THE ADULT PHENOTYPE: O.W. Quarrell, et al.; Am J Med Genet (December, 1988, issue 31(4)). Pp. 841-4. ISOCHROMOSOME 12p MOSAICISM (PALLISTER-KILLIAN SYNDROME): NEWBORN DIAGNOSIS BY DIRECT BONE MARROW ANALYSIS: B.E. Ward, et al.; Am J Genet (December, 1988, issue 31(4)). Pp. 835-9. SKELETAL ANOMALIES IN A PATIENT WITH THE PALLISTER/TESCHLER- NICOLA/KILLIAN SYNDROME: H Kawashima; Am J Med Genet (June, 1987, issue 28(2)). Pp. 285-9. Pallister-Killian Mosaic Syndrome pagetitle 512: Pallister-Killian Mosaic Syndrome 04079.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 900: Pallister-W Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pallister-W Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms W Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Oto-Palato-Digital Syndrome Frontometaphyseal Dysplasia Larsen Syndrome Oro-Facial-Digital Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pallister-W Syndrome is an X-linked recessive genetic disorder or an autosomal dominant condition that is apparent at birth. Major symptoms may include unusual facial clefting, broad based nose, widely spaced slanting eyes and seizures. Mental retardation, speech problems, and bone deformities of the arms and legs can also occur. Symptoms Pallister-W Syndrome is apparent at birth. It is characterized by widely-spaced eyes, broad, flat nasal bridge, central clefting of the palate or upper lip, seizures and mental retardation. There may also be bone abnormalities in the arms and legs. Cowlick (hair that does not lie flat on the head), missing teeth, a high forehead and slanting of the eyelids has also been noted. Causes The exact cause of Pallister-W Syndrome is not known. The disorder is thought to be caused either by X-linked recessive or autosomal dominant genetic transmission. Males are affected more severely than females. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Pallister-W Syndrome is a very rare disorder. It affects males and females in equal numbers. However, males are more severely affected than females. Related Disorders Symptoms of the following disorders can be similar to those of Pallister-W Syndrome. Comparisons may be useful for a differential diagnosis: Oto-Palato-Digital Syndrome, Types I and II, characteristically affect males more severely than females. Clefting of the palate, slanting of the eyes, abnormalities of the face, fingers and toes, and speech problems occur. (For more information on this disorder, choose "Oto-Palato-Digital" as your search term in the Rare Disease Database). Frontometaphyseal Dysplasia is a rare genetic disorder characterized by coarse facial features that include a wide nasal bridge, widely spaced eyes, overgrowth of the bone over the eyes, a small jawbone and incomplete development of the sinuses. Multiple deformities of the teeth and bones may also be present. Occasionally mental retardation may occur. Larsen Syndrome is a multi-system genetic disorder that is present at birth. It is characterized by multiple bone dislocations and abnormalities, an extremely high arch of the foot, non-tapering cylindrically shaped fingers, and an unusual facial appearance. In some cases short stature, heart problems, cleft palate or lips, deafness and/or mental retardation may occur. This disorder is inherited through an autosomal dominant or recessive trait. (For more information on this disorder, choose "Larsen" as your search term in the Rare Disease Database). Oro-Facial-Digital Syndrome is a rare genetic disorder in which there have been four types identified. Symptoms common to all types include episodes of neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue, a broad based nose, vertical folds of the skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, shorter than normal fingers and/or toes, and more than the normal number of divisions between skull sections. (For more information on this disorder, choose "Oro-Facial-Digital" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Pallister-W Syndrome may consist of surgery to repair the clefting of the palate and lip. Anti-seizure medication may be prescribed to control seizures, and surgery to repair deformities of the arms and legs may also be necessary. Special education and related services will be helpful in school, and speech therapy may be required after surgical repair of the cleft palate. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. This disease entry is based upon medical information available through March 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pallister-W Syndrome, please contact" National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institutes of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-3643 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT National Foundation for Facial Reconstruction 550 First Ave. New York, NY 11016 (212) 340-6656 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1703. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1354-55. Pallister-W Syndrome !pagetitle 900: Pallister-W Syndrome 04080.TXT "Copyright (C) 1990 National Organization for Rare Disorders, Inc. 716: Pancreatic Islet-Cell Tumor _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pancreatic Islet-Cell Tumor) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Endocrine Tumor Encephalopathy, Hypoglycemic Multiple Endocrine Adenomatosis Information on the following diseases can be found in the Related Disorders section of this report: Zollinger-Ellison Syndrome Hypoglycemia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pancreatic-islet cell tumors appear in one of two forms. They may be non functioning or functioning tumors. Nonfunctioning tumors may cause obstruction in the shortest part of the small intestine (duodenum) or in the biliary tract which connects the liver to the duodenum and includes the gall bladder. These nonfunctioning tumors may erode and bleed into the stomach and/or the intestines, or they may cause an abdominal mass. Functioning tumors secrete excessive amounts of hormones which may lead to various syndromes including low blood sugar (hypoglycemia), multiple bleeding ulcers (Zollinger-Ellison Syndrome), pancreatic cholera (Verner-Morrison Syndrome), carcinoid syndrome or diabetes. Islet cells are small, isolated masses of cells which make up the Islet of Langerhans in the pancreas. When functioning normally, they secrete the protein hormones insulin and glucagon. Tumors composed of irregular islet cells may occur alone or in a group of many tumors. Approximately 90% of islet-cell tumors are noncancerous (benign). They usually range in size from 0.5 to 2 cm in diameter. Symptoms Symptoms of pancreatic islet-cell tumor vary with the type of hormone-producing tumor that occurs. Generally, symptoms include periodic attacks of pain in the abdomen which increase in severity and frequency. Insulin-secreting tumors may result in abnormally low blood sugar (hypoglycemia), and may produce such symptoms as headache, visual disturbances, confusion, weakness, sweating, uncontrollable tremors or quivering, loss of muscular coordination (ataxia), personality changes, palpitations, convulsions or coma. Symptoms of severe hypoglycemia may be confused with those of many neurologic or psychiatric disorders. Pancreatic islet-cell tumors which produce the hormone gastrin commonly result in multiple ulcers. Approximately 50% of these tumors are benign and their growth and spread are slow. Symptoms of ulcers may include gastrointestinal bleeding, stomach pain and diarrhea. Zollinger-Ellison Syndrome is characterized by multiple ulcers which may be caused by gastrin secreting islet-cell tumors of the pancreas. These ulcers commonly bleed, cause stomach pain and diarrhea. (For more information on this disorder, choose "Zollinger-Ellison" as your search term in the Rare Disease Database). Certain pancreatic islet-cell tumors which secret the hormone vasoactive intestinal polypeptide (VIP) are responsible for such symptoms as severe watery diarrhea, dehydration, intermittent vomiting, weight loss, weakness, decreased potassium in the blood (hypokalemia), excess calcium in the blood (hypercalcemia), reduced or absent gastric secretion and degenerative changes in the spine. This disorder is called Verner-Morrison Syndrome or Pancreatic Cholera. Causes The exact cause of pancreatic islet-cell tumors is not known. However scientists believe certain forms of this disorder may be inherited. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. Verner-Morrison syndrome and a particular form of Zollinger-Ellison syndrome are inherited as autosomal dominant traits. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Pancreatic islet-cell tumors occur most often in males between the ages of 30 and 60. Related Disorders Symptoms of the following disorder can be similar to those of Pancreatic Isleta-Cell Tumors. Comparisons may be useful for a differential diagnosis: Hypoglycemia is characterized by abnormally low blood sugar, and may be caused by excess insulin in the body. Symptoms of hypoglycemia may include faintness, weakness, jitteriness, profuse perspiration, excessive hunger and nervousness. Islet-cell tumors of the pancreas may be one source of the excess insulin, although hypoglycemia often occurs for unknown reasons. (For more information on this disorder, choose "Hypoglycemia" as your search term in the Rare Disease Database). Therapies: Standard Small benign tumors at or near the surface of the pancreas can usually be surgically removed. If the tumor is large or deep into the body or tail of the pancreas, a portion of the pancreas may be removed. Total removal of the pancreas (pancreatectomy) is reserved only for large malignant tumors of the pancreas. Surgical cure rates are very high for small benign tumors. The drugs Diazoxide and Streptozocin (for insulinoma) are frequently administered to control symptoms or reduce the size of the tumor. Gastrin secreting pancreatic islet-cell tumors (Zollinger-Ellison Syndrome) may be treated with the drug Cimetidine which greatly reduces gastric acid output and promotes healing and alleviates symptoms. Surgical removal of the tumor is possible in approximately 20% of all patients. Streptozocin is also used to reduce diarrhea and tumor mass. The drug Sandostatin has been found to be effective in controlling diarrhea and suppressing secretion of the hormones gastrin, insulin, glucagon and VIP by islet-cell tumors. Pancreatic cholera (Verner-Morrison Syndrome) must be treated by replacing fluids and electrolytes lost in numerous watery stools. The tumor may be surgically removed in approximately 50% of the cases. Streptozocin may also be administered to reduce diarrhea and tumor mass. Some individuals may respond to a corticosteroid drug such as Prednisone. Sandostatin may be administered for severe diarrhea and to reduce elevated VIP levels produced by islet-cell tumors. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pancreatic Islet-Cell Tumors, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 269-271. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 495-499. ISLET CELL CARCINOMAS OF THE PANCREAS: A TWENTY YEAR EXPERIENCE. G.B. Thompson et al; SURGERY, (Dec 1988; 104(6):1011-1017). NONFUNCTIONING ISLET CELL CARCINOMA OF THE PANCREAS. COMPLETE RESPONSE TO CONTINUOUS 5-FLUOROURACIL INFUSION. R. Hansen et al; CANCER, (Jul 1 1988; 62(1):15-17). Pancreatic Islet-Cell Tumor Ma/# 2#pagetitle 716: Pancreatic Islet-Cell Tumor 04081.TXT Copyright (C) 1986, 1988, 1989 National Organization for Rare Disorders, Inc. 286: Panic-Anxiety Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Panic-Anxiety Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Panic Disorder Anxiety State Anxiety Neurosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Panic-Anxiety Syndrome is a psychiatric disorder characterized by recurrent and unpredictable anxiety attacks with no apparent cause for the symptoms, such as threat of danger or attack. Symptoms The main feature of Panic-Anxiety Syndrome is the recurrence of panic attacks. Psychological symptoms may include intense apprehension, unreasonable fear of dying or impending doom, fear of becoming insane, or dread of losing control of the self. Physical manifestations are generally those commonly associated with panic or anxiety such as difficulty in breathing, irregular heartbeat, sweating, trembling and faintness. In addition, patients may experience chest pain, feelings of unreality, abnormal sensations (burning or pricking), dizziness, or hot and cold flashes. The symptoms usually become apparent in late adolescence or early adulthood. Attacks, which can occur at any time, usually last only minutes, though in rare cases they may last hours. Complications may develop from the symptoms associated with the disorder. Agoraphobia, the fear of being in public places, may result from the patient's apprehensions about losing control. Between attacks patients affected with Panic-Anxiety Syndrome can suffer from symptoms of nervousness, caused by fear of future attacks; these symptoms include a tensing of the muscles, increased blood pressure and heart rate. Patients may turn to abuse of alcohol or anxiety relieving medications to alleviate their constant nervousness. The result may be Depressive Disorders which can further complicate treatment. Causes Panic-Anxiety Syndrome is believed to be caused by biochemical factors, though the specific cause of the disorder is not yet known. The disorder is possibly caused by excessive secretion of the neurohormone norepinephrine, which stimulates the autonomic nervous system. Another possible cause is a hypersensitivity to lactates (a substance which usually accumulates during physical exertion). Also, studies with caffeine have suggested a link in some cases between Panic-Anxiety Syndrome and abnormalities in the neural systems involving adenosine (a chemical in the body related to caffeine). Researchers have been able to trigger panic attacks in patients by exposing them to carbon dioxide or other substances normally not found in the brain. In 1988, researchers reported that a brain chemical known as cholecystokinin (given to patients intravenously) could trigger panic attacks 20 seconds after injection. It is not clear whether panic anxiety syndrome may be caused by a surge in the natural level of cholecystokinin, or whether brains of people with this disorder are abnormally sensitive to it. Affected Population Panic-Anxiety Syndrome tends to affect females more commonly than males. Related Disorders Different Phobias can cause physical symptoms similar to Panic-Anxiety Syndrome, but they occur only in response to specific stimuli. Panic-Anxiety Syndrome may be differentiated by the unpredictability of the anxiety attacks. Withdrawal from some drugs such as barbiturates and substance intoxications (such as caffeine or amphetamines), may also produce symptoms of Panic Disorder. Generalized Anxiety Disorder is symptomatized by chronic anxiety, like that experienced between anxiety attacks in Panic-Anxiety Syndrome. Panic-Anxiety Syndrome may be distinguished from Generalized Anxiety Disorder by the recurrence of fits of panic. Finally, patients with other mental disorders such as Schizophrenia, Major Depression, or Somatization Disorder may experience symptoms of panic attacks. Therapies: Standard Primarily, there are two drugs used to treat Panic-Anxiety Syndrome: alprazolam and imipramine hydrochloride. Alprazolam acts as a tranquilizer and reduces the patient's hypersensitivity to lactate. The therapeutic efficacy of imipramine hydrochloride, on the other hand, has been linked to its inhibitory effect on norepinephrine (a neurotransmitter associated with anxiety or tension) turnover. Therapies: Investigational Research is ongoing into new therapies for the treatment of Panic-Anxiety Syndrome. This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Panic-Anxiety Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Anxiety Disorders Association of America 6000 Executive Blvd., Suite 200 Rockville, MD 20852 (301) 231-9350 Mental Health Association 1021 Prince St. Alexandria, VA 22314 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) References DIAGNOSTIC AND STATISTICAL MANUAL OF PSYCHIATRIC ILLNESS; 3rd ed.: Robert L. Spitzer, et. al. eds; American Psychiatric Association, 1980. Pp. 230-2. NEUROENDOCRINE CORRELATES OF LACTATE-INDUCED ANXIETY AND THEIR RESPONSE TO CHRONIC ALPRAZOLAM THERAPY; D. B. Carr et al.: American Journal of Psychiatry, April 1986; 143(4): Pp. 483-494. NORADRENERGIC FUNCTION AND THE MECHANISM OF ACTION OF ANTIANXIETY TREATMENT; D. S. Charney and G. R. Heninger: Archives of General Psychiatry, May 1985, 42(5): Pp. 473-481. INCREASED ANXIOGENIC EFFECTS OF CAFFEINE IN PANIC DISORDERS; D. S. Charney et al.: Archives of General Psychiatry, March, 1985; 42(3): Pp. 233-243. Panic-Anxiety Syndrome% pagetitle 286: Panic-Anxiety Syndrome 04082.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 744: Papillitis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Papillitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Optic Neuritis Optic Neuropathy Information on the following diseases can be found in the Related Disorders section of this report: Giant Cell Arteritis Multiple Sclerosis Retrobulbar Neuritis Syphilis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Papillitis is a progressive inflammation of all or part of the optic nerve which can lead to loss of vision. It is usually preceded by a viral illness or other inflammatory disease. Symptoms Papillitis is an inflammation in or about the optic nerve. It is characterized by a rapid loss of vision. This is the only symptom of this disease. It can occur within one to two days of onset, and may last for months. Recovery may be spontaneous, but permanent loss of vision can occur if the underlying cause is not diagnosed and treated. In the elderly with Giant Cell Arteritis, there may be headaches and fatigue as well as loss of vision in one eye. In some cases it may progress to the other eye and cause total blindness. Causes There are many causes of Papillitis. It may be caused by an inflammation of the temporal artery, toxins or chemicals such as lead or ethanol, syphilis, or a tumor in another part of the body. Symptoms may also occur after a viral illness. In some cases there may be no apparent cause. Affected Population Papillitis affects males and females in equal numbers and can occur at any age. Related Disorders The following disorders may be associated with Papillitis. Giant Cell Arteritis is a chronic inflammatory disease of the branches of the aortic arch. This disorder is found principally in the temporal and occipital arteries, but may develop in almost any of the large arteries. It rarely involves veins. Papillitis may occur in people with Giant Cell Arteritis. (For more information on this disorder, choose "Arteritis, Giant Cell" as your search term in the Rare Disease Database). Multiple Sclerosis is a chronic disease of the brain and spinal cord (central nervous system) which may be progressive, relapsing and remitting, or stable. People with MS have small nerve lesions called plaques that may form randomly throughout the brain and spinal cord. These patches prevent proper transmission of nerve signals and thus result in a variety of neurological symptoms. (For more information on this disorder, choose "Multiple Sclerosis" as your search term in the Rare Disease Database.) Retrobulbar Neuritis is an inflammation of that portion of the optic nerve that lies behind the eyeball. Many cases of this disease are caused by multiple sclerosis while others may be due to viral or infectious disorders. In most cases there may be no apparent cause. This disease usually affects one eye and is characterized by pain associated with movement of the eye, headache and a rapid and progressive loss of vision. Syphilis is a chronic, highly infectious disease acquired through sexual intercourse. This disease may involve any organ or tissue of the body. (For more information on this disorder, choose "Chlamydia" as your search term in the Rare Disease Database.) Therapies: Standard If spontaneous remission does not occur in people with Papillitis it is usually treated with the corticosteroid drugs prednisone or methylprednisolone. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Papillitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 468-5248 Vision Foundation, Inc. 818 Mt. Auburn Street Watertown, MA 02172 (617) 926-4232 (800) 852-3029 (within Massachusetts) References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2171. THE MERCK MANUAL, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1987. Pp. 2240. OPTIC NEURITIS IN CHILDREN AND ITS RELATIONSHIP TO MULTIPLE SCLEROSIS: A CLINICAL STUDY IN 21 CHILDREN. R. Riikonen, et al.; DEV MED CHILD NEUROL, (June 1988, issue 30 (3)). Pp. 349-359. TRANSVERSE MYELITIS AND OPTIC NEURITIS IN SYSTEMIC LUPUS ERYTHROMATOSUS: A CASE REPORT WITH RESONANCE IMAGING FINDINGS. J. Kenik, et al.; ARTHRITIS RHEUM (August 1987, issue 30 (8)). Pp. 947-950. RECOVERY AFTER OPTIC NEURITIS IN CHILDHOOD. A. Kriss, et al.; J NEUROSURG PSYCHIATRY, (October 1988, issue 51 (10)). Pp. 1253-1258. OPTIC NEURITIS IN THE ELDERLY: PROGNOSIS FOR VISUAL RECOVERY AND LONG- TERM FOLLOW-UP. D. Jacobsen, et al.; NEUROLOGY (December 1988, issue 38 (12)). Pp. 1834-1837. TREATMENT OF OPTIC NEURITIS WITH INTRAVENOUS MEGADOSE CORTICOSTEROIDS. A CONSECUTIVE SERIES. T. Spoor, et al.; OPHTHALMOLOGY (January 1988, issue 95 (1)). Pp. 131-134. Papillitisy pagetitle 744: Papillitis 04083.TXT Copyright (C) 1986, 1988 National Organization for Rare Disorders, Inc. 159: Paracoccidioidomycosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Paracoccidioidomycosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms South American Blastomycosis Lutz-Splendore-Almeida Disease Paracoccidioidal Granuloma Including: Lobo Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Paracoccidioidomycosis is an infectious fungal disease involving the skin, mucous membranes, lymph nodes, and internal organs. The disease occurs primarily in South and Central America. It usually affects men between the ages of 20 and 50 years. The disease is fatal if not treated, but several effective therapeutic drugs exist. Symptoms Paracoccidioidomycosis occurs in four clinical forms, depending on the affected individual's immunological reaction to the pathogenic organism, and the extent to which the organism becomes systemic. The four forms are: l. Mucocutaneous Paracoccidioidomycosis 2. Lymphatic Paracoccidioidomycosis 3. Visceral Paracoccidioidomycosis 4. Pulmonary Paracoccidioidomycosis The four forms may occur simultaneously, only one may occur, or one may give way to another as the disease progresses. The pathogen spreads from one part of the body to another primarily via the lymph and blood. Mucocutaneous Paracoccidioidomycosis affects the skin, mucous membranes, and the borders between the two, particularly on the face, mouth (including the gums, tongue, palate, tonsils), and nose. Small ulcers with tiny yellowish areas containing the fungus gradually expand over the area involved, while nearby lymph nodes enlarge and adhere to the undersurface of the skin causing some pain. As cells of the lymph nodes are destroyed, they discharge a puss-like fluid through the skin. In the lymphatic form of Paracoccidioidomycosis, larger lymph nodes are involved in addition to those described above. The nodes in the mesentery (membrane connecting and supporting the abdominal organs), the neck, and the armpits are greatly, although generally painlessly, enlarged. The spleen, liver, pancreas, kidneys, intestines, and rarely, the brain, are involved in Visceral Paracoccidiodomycosis. In Pulmonary Paracoccidioidomycosis, the patient has a cough, often with bloody sputum, difficulty breathing, fever, fatigue, weight loss, and an overall feeling of discomfort. Causes Paracoccidioidomycosis is caused by the fungus Paracoccidioides brasiliensis. (This fungus used to be known as Blastomyces brasiliensis.) Affected Population Paracoccidiodomycosis occurs only in Central and South America, and is especially prevalent in the coffee growing regions of Brazil. It affects men about 10 times as often as women. Most affected men are between 20 and 50 years of age. Related Disorders Paracoccidioidomycosis is a systemic fungal disease, of which there are many other examples. The organism causing this disorder used to be classified in the same group as that responsible for Blastomycosis. Thus, Blastomycosis was known as North American Blastomycosis, while Paracoccidioidomycosis was known as South American Blastomycosis. Therapies: Standard Amphotericin B is the antifungal treatment of choice for Paracoccidiodomycosis, and is usually effective. In patients who do not tolerate this drug, sulfonamides suppress symptoms and progress of the disease, but do not eliminate the pathogen. Therapies: Investigational Ketoconazole is currently under investigation for the treatment of Paracoccidiodomycosis and other systemic fungal infections. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Paracoccidiomycosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1843-4. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 143. Paracoccidioidomycosis pagetitle 159: Paracoccidioidomycosis 04084.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 907: Paramyotonia Congenita _________________________ ** IMPORTANT ** It is possible that the main title of the article (Paramyotonia Congenita) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Eulenburg Disease Myotonia Congenita Intermittens Paralysis Periodica Paramyotonica Paramyotonia Congenita of Von Eulenburg Von Eulenburg Paramyotonia Congenita Information on the following diseases can be found in the Related Disorders section of this report: Hyperkalemic Periodic Paralysis Myotonic Dystrophy Thomsen Disease Hyperkalemic Periodic Paralysis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Paramyotonia Congenita is a rare muscular disorder inherited as an autosomal dominant trait. This nonprogressive disorder is characterized by a condition in which the muscles do not relax after contracting (myotonia). Symptoms can be triggered by exposure to the cold. There are also intermittent periods of a type of paralysis in which there is no muscle tone (flaccid paresis). This condition does not necessarily coincide with exposure to cold temperatures or myotonia. There is no wasting (atrophy) or increase in bulk (hypertrophy) of muscles with this disorder. Symptoms Patients with Paramyotonia Congenita have a condition in which the muscles do not relax after contracting (myotonia). This condition may become worse with exposure to the cold. The muscles of the face, tongue and hands are most often affected. Repeated contractions of the muscles can aggravate the myotonia (paradoxical myotonia). Some patients with Paramyotonia Congenita may experience a form of paralysis in which muscle tone is lacking (flaccid paresis). These attacks may be accompanied by increased levels of potassium in the blood in some cases but not in others. Paramyotonia Congenita is usually apparent during infancy and is not progressive. Patients with this disorder do not have wasting of muscles (atrophy) or an increase of muscle bulk (hypertrophy). Causes Paramyotonia Congenita is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Paramyotonia Congenita is a very rare disorder that affects males and females in equal numbers. Three large families with multiple generations of affected members have accounted for at least 60 patients with Paramyotonia Congenita. Related Disorders Symptoms of the following disorders can be similar to those of Paramyotonia Congenita. Comparisons may be useful for a differential diagnosis: Hyperkalemic Periodic Paralysis is rare disorder inherited as an autosomal dominant trait and typically detected during infancy. This disorder is characterized by periodic muscle weakness with or without muscles that do not relax after contracting (myotonia). Patients may have attacks once a week or several times a day. Typically the periods of muscle weakness last from one half an hour to an hour. This weakness may be found in the calves or thighs of the legs, lower back, arms, neck and/or eyelids. Periods of muscle weakness usually follow rest after exercise, hunger, infection, exposure to the cold and/or emotional stress. Permanent weakness and wasting of muscles may develop later on. Myotonic Dystrophy is a rare disorder inherited as an autosomal dominant trait. This disorder involves the muscles, vision, and endocrine glands. Myotonic Dystrophy usually begins during young adulthood and is marked initially by an inability to relax muscles after contraction. Loss of muscle strength, mental deficiency, cataracts, reduction of testicular function, and frontal baldness are also symptomatic of this disorder. (For more information on this disorder, choose "Myotonic Dystrophy" as your search term in the Rare Disease Database). Thomsen Disease is a rare disorder inherited as an autosomal dominant trait. This neuromuscular disorder usually begins early in life. Difficulty in initiating movement combined with slowness of muscle relaxation are the primary symptoms. Muscle stiffness of the entire body may also occur. Thomsen Disease is generally a nonprogressive disorder. (For more information on this disorder, choose "Thomsen Disease" as your search term in the Rare Disease Database). Therapies: Standard Some patients with Paramyotonia Congenita may benefit from acetazolamide or thiazide diuretic drugs to reduce the number of paralytic attacks. Treatment with the drug tocainide may help reduce the cold-induced symptoms in some patients. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Paramyotonia Congenita, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 708. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2284. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1365-66. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 1163. PARAMYOTONIA CONGENITA OR HYPERKALEMIC PERIODIC PARALYSIS? CLINICAL AND ELECTROPHYSIOLOGICAL FEATURES OF EACH ENTITY IN ONE FAMILY: S.M. de Silva, et al.; Muscle Nerve (January, 1990, issue 13(1)). Pp. 21-6. Paramyotonia Congenita pagetitle 907: Paramyotonia Congenita 04085.TXT )Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 398: Paraplegia, Hereditary Spastic _________________________ ** IMPORTANT ** It is possible the main title of the article (Hereditary Spastic Paraplegia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms HSP Strumpell's Familial Paraplegia Strumpell-Lorrain Familial Spasmodic Paraplegia Spastic Spinal Familial Paralysis Spastic Congenital Paraplegia Spasmodic Infantile Paraplegia Familial Spastic Paraplegia FSP Disorder Subdivision: Familial Spastic Paraperesis from Associated HTLV-1 Infection Information on the following diseases can be found in the Related Disorders section of this report: Werdnig-Hoffman Syndrome Arteriovenous Malformation of the Spine, Type III General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hereditary Spastic Paraplegia is an inherited neurological disorder characterized by slow progressive degeneration of the corticospinal and other nerve cells in the spinal cord. Abnormal narrowness of the passage inside of the vertebral canal can cause compression of the spinal cord and is one possible cause of this condition. This may cause paralysis. The severity of symptoms depends upon how much the nerves are compressed and damaged. Occasionally associated with other conditions, symptoms are usually first noticed during early childhood although they can begin at any age. Weakness, stiffness and muscle spasms first develop in the legs and may later spread to other parts of the body. Symptoms Initial symptoms of Hereditary Spastic Paraplegia usually include weakness, muscle spasms, and stiffness of the legs. Leg muscles may contract or a heel deformity may occur making walking difficult. Speech disturbances can also appear. Difficulty in swallowing, exaggeration of tendon reflexes and general muscle weakening may develop as this disorder progresses. Symptoms can range from mild to severe depending upon the mode of inheritance (dominant or recessive genes), and the degree to which the nerves are compressed or damaged. Hereditary Spastic Paraplegia can be associated with other conditions such as mental retardation, deafness, premature puberty, congenital deformities of the foot, tremors, dwarfism or delayed speech development. Causes In general, the abnormally narrow vertebral canal in the spinal column of people with Hereditary Spastic Paraplegia causes various degrees of nerve compression which leads to muscle weakness and/or paralysis. The disorder may be inherited through either a dominant recessive transmission. Depending upon which mode of transmission has caused the disorder, several subtypes of HSP have been identified. These subtypes can be differentiated by associated symptoms. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Hereditary and Familial Spastic Paraplegia is usually an inherited neurologic disorder. However, a study has recently been concluded in a family in Paraguay, that shows a definite transmission of Human HTLV-1 virus (known to cause Leukemia and Lymphoma) through breast milk that results in a condition of Spastic Paraplegia in some of the family members. This cause of the Spastic Paraplegia was shown to have no genetic transmission but to have passed from mother to child through nursing. Similar Spastic Paraparesis types associated with HTLV-1 virus transmission have been recognized in persons in Japan. Affected Population According to a study done in Italy, Hereditary Spastic Paraplegia occurs at a rate of 1.3 cases per 100,000 population. Researchers noted that prevalence may be less frequent in other countries. The disorder seems to occur more frequently in males than females. Symptoms are usually first noticed in childhood, but can begin at any age. Related Disorders Symptoms of the following disorders may be similar to Hereditary Spastic Paraplegia. Werdnig-Hoffmann Disease, also known as Progressive Spinal Muscular Atrophy, is a severe progressive neuromuscular disorder which usually begins in infancy. It is characterized by a generalized atrophy and weakness of the muscles of the trunk and extremities which occur as a result of degenerative changes in the spinal cord. This weakness, referred to as the "amyotonia congenital syndrome" may also be found in other neuromuscular disorders. Tendon reflexes in Werdnig-Hoffmann are usually depressed or absent. The rate of progression can vary. In general, the earlier the onset of this disorder, the faster the progression will be. In very rare cases, symptoms may appear after infancy; in these cases, progression is usually slower than in the infantile form. (For more information on this disorder, choose "Werdnig" as your search term in the Rare Disease Database). Arteriovenous Malformation (AVM) of the Spine (Type III) is characterized by a lesion consisting of tangled or coiled blood vessels in the neck. This type of AVM usually first occurs during childhood and is marked by back pain associated with sensory loss and muscle weakness in the legs. The lesion has multiple feeding vessels with a large malformation that often appears to fill the entire spinal canal. These abnormalities are present at birth even though symptoms may be delayed for many years. AVM seems to occur in males more often than females. (For more information on this disorder, choose AVM as your search term in the Rare Disease Database.) Therapies: Standard Treatment for Hereditary Spastic Paraplegia includes careful supervision of feeding when mouth, larynx and/or esophageal muscles are involved. Physical therapy may help maintain muscle use to avoid fixation of joints and muscle contractures. A foot brace may improve muscle or tendon constrictures in the feet. Numerous drugs are available for treatment of muscle spasms and other symptoms. Communication devices may be useful if a patient loses the ability to talk. Other treatment is symptomatic and supportive. Genetic counseling will be helpful to families of affected individuals. Therapies: Investigational The Food and Drug Administration (FDA) has awarded an orphan drug research grant to John H. Growdon, M.D., Massachusetts General Hospital, Boston, MA, for studies on the experimental drug L-threonine for Hereditary Spastic Paraplegia. Infusion of the drug Baclofen by a surgically implanted pump is being studied by scientists for spasticity. Infusion of the drug directly into the spinal space, rather than given orally, seems to provide patients with better relief of spasticity and improves muscle tone for longer periods of time. Less Baclofen seems to be needed when it is infused rather than given orally. Research on Baclofen for spasticity is supported by an Orphan Drug grant from the FDA. More research is needed to provide evidence of the safety and effectiveness of this type of Baclofen. This disease entry is based upon medical information available through September 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hereditary Spastic Paraplegia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1274 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References HEREDITARY "PURE" SPASTIC PARAPLEGIA: A CLINICAL AND GENETIC STUDY OF 22 FAMILIES: A.E. Harding; J Neurol Neurosurg Psychiatry (October 1981, issue 44 (10)). Pp. 871-883. FAMILIAL SPASTIC PARAPLEGIA, MENTAL RETARDATION, AND PRECOCIOUS PUBERTY: M.I. Raphaelson, et al.; Arch Neurol (December 1983, issue 40(13)). Pp. 809-810. THE SPINAL CANAL IN FAMILIAL SPASTIC PARAPLEGIA: D. Vassilopoulos, et al.; Eur Neurol (1981, issue 20(2)). Pp. 110-114. INTRATHECAL BACLOFEN FOR SEVERE SPASTICITY, R.D. Penn, et al.; New Eng J Med (June 8, 1989, issue 320 (23)). Pp. 1517-1521. FAMILIAL SPASTIC PARAPARESIS SYNDROME ASSOCIATION WITH HTLV-1 INFECTION, Solazar-Grueso, Edgar F., et al.; N Eng. J. Med, (September 13, 1990, issue 323, (11)). Pp. 732-737. Paraplegia, Hereditary Spastic-* 0*pagetitle 398: Paraplegia, Hereditary Spastic 04086.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 150: Parenchymatous Cortical Degeneration of the Cerebellum _________________________ ** IMPORTANT ** It is possible the main title of the article (Parenchymatous Cortical Degeneration of the Cerebellum) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Parenchymatous Cerebellar Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. In Parenchymatous Cortical Degeneration of the Cerebellum, the superficial layer of the cerebellum, a part of the brain responsible for motor coordination, deteriorates. The disease may be inherited, or it may develop in association with underlying diseases such as cancer or alcoholism. It is progressive with increasing disability. Symptoms Onset of Parenchymatous Cortical Degeneration of the Cerebellum may occur at any time, but it is most common during adulthood. Speech becomes slurred and the gait halting and unsteady. There may be tremor in the legs and later in the course of disease, difficulty moving the arms in a coordinated manner. In severe cases, intellectual abilities may deteriorate. Microscopically, the loss of certain cells and fibers of the cerebellar cortex (such as Purkinje cells, granular cells, olivocerebellar fibers, etc.) is apparent. The macroscopic appearance of the cerebellum also changes. Causes Parenchymatous Cortical Degeneration of the Cerebellum may be inherited. It may also follow or accompany underlying disease, especially cancer and alcoholism. Therapies: Standard Treatment of Parenchymatous Cortical Degeneration of the Cerebellum is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Parenchymatous Cortical Degeneration of the Cerebellum, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 NIH/National Institute on Aging (NIA) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-1752 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 Parenchymatous Cortical Degeneration of the Cerebe...m pagetitle 150: Parenchymatous Cortical Degeneration of the Cerebellum 04087.TXT 9Copyright (C) 1984, 1985, 1986, 1987, 1988, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 4: Parkinson's Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Parkinson's Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Parkinsonism (Paralysis Agitans; Shaking Palsy; Secondary Parkinsonism; Symptomatic Parkinsonism; Postencephalitic Parkinsonism; Drug-Induced Parkinsonism) Information on the following diseases can be found in the Related Disorders section of this report: Parkinsonism Dementia Complex Juvenile Parkinsonism of Hunt (Hunt Corpus Striatum Syndrome; Pallidopyramidal Syndrome) Hallervorden-Spatz Disease Benign Familial Tremor Benign Essential Tremor Progressive Supranuclear Palsy Olivopontocerebellar Atrophy General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Parkinson's disease is a slowly progressive neurologic condition characterized by involuntary trembling (tremor), muscular stiffness or inflexibility (rigidity), slowness of movement and difficulty carrying out voluntary movements. Degenerative changes occur in areas deep within the brain (substantia nigra and other pigmented regions of the brain), causing a decrease in dopamine levels in the brain. Dopamine is a neurotransmitter, which is a chemical that sends a signal in the brain. Parkinsonian symptoms can also develop secondary to hydrocephalus (a condition in which the head is enlarged and areas of the brain accumulate excessive fluids, resulting in an increase in pressure on the brain), head trauma, inflammation of the brain (encephalitis), obstructions (infarcts) or tumors deep within the cerebral hemispheres and the upper brain stem (basal ganglia), or exposure to certain drugs and toxins. Parkinson's disease is slowly progressive and may not become incapacitating for many years. Symptoms Parkinson's disease generally begins with a subtle slight tremor, especially in the hands. At first, the tremor occurs at rest, then becomes more pronounced with fatigue and emotional stress, lessening during voluntary movements. The tremor may be limited to the arms or extend to the neck, jaws and legs. Voluntary movements such as walking become increasingly difficult. Walking becomes slow, stiff and shuffling. Perception, thinking processes and sensation generally remain normal, although some patients may experience a reduction of intellectual abilities (dementia). The depression that sometimes develops in Parkinson's disease may be part of the disease or a reaction to it. As the disease advances, a stooped posture and an immobile, unblinking facial expression with frequent drooling develops. Oily skin (seborrhea) may be present on the face and scalp. A feeling of being "frozen" in a position, unable to make a voluntary movement, is a repeated symptom of Parkinson's disease. Causes The cause of Parkinson's disease is unknown in most cases. A few cases have resulted from carbon monoxide or manganese poisoning. Drug-induced parkinsonian symptoms can develop from drugs used to treat psychiatric disorders (dopamine-receptor antagonistic drugs). These symptoms usually disappear when the drugs are withdrawn or the dosage is decreased, or with time during treatment. A few families with multiple cases of Parkinson's disease have been identified but a genetic basis has not been established. Affected Population Although 10 to 20 percent of all cases of Parkinson's disease are diagnosed in individuals under the age of 40 years, this disorder occurs primarily in the middle-aged and elderly population. Between 300,000 and 500,000 cases of classic Parkinson's disease are found in the United States. As the National Institute of Neurological Disorders and Stroke reported in a study of major neurologic disorders in biracial populations, the occurrence of Parkinson's disease shows no gender (male to female) or racial differences. Related Disorders Symptoms of the following disorders can be similar to those of Parkinson's Disease. Comparisons may be useful for a differential diagnosis. Juvenile Parkinsonism of Hunt is an extremely rare hereditary syndrome with onset during the teens, 20's or early 30's. Parkinsonism Dementia Complex is associated with motor neuron disease such as amyotrophic lateral sclerosis (ALS). A rare form of Parkinson's-like syndrome has been found in western Pacific Islands and has been determined to be caused by eating a locally grown toxic bean. A drug-induced Parkinsonism was identified in young heroin addicts who abused a "designer drug" originally in a fairly localized community in California. Primates (i.e., monkeys) given the same toxic substance are considered a study model for this disorder because parkinsonism can be induced by the heroin substitute. Benign Essential Tremor Syndrome is a disorder of the nervous system that has no known cause. It is characterized by a fine or coarse tremor, primarily in the hands and head. This disorder is similar to Benign Familial Tremor, which tends to run in families. Benign essential tremor syndrome may be slowly progressive, eventually affecting other parts of the body. When the affected area of the body is in movement or voluntarily moved or held in one position, the tremor is rhythmic and occurs at the rate of about 4 to 12 times per second. This is in contrast to Parkinson's tremors, which usually diminish or disappear entirely with purposeful movement. The tremors mainly affect the upper extremities and are aggravated by stress, anxiety, fatigue and cold. (For more information on this disorder, choose "Benign Essential Tremor Syndrome" as your search term in the Rare Disease Database). Hallorvorden-Spatz Disease affects movement. It is associated with degeneration of the nervous system. A variety of symptoms can develop, including muscular rigidity, stiffness, uncontrolled movement, contractions (spasticity) and dementia. Onset typically occurs during childhood, although occasionally the disease appears in adulthood. Imperfect articulation of speech, mental retardation and facial grimacing are reported less frequently. The clinical syndrome may resemble parkinsonism in some cases. (For more information on this disorder choose "Hallervorden-Spatz Disease" as your search term in the Rare Disease Database). Olivopontocerebellar Atrophy is a group of inherited forms of Ataxia (impaired ability to coordinate movement). It is characterized by progressive neurologic degeneration (gradual deterioration) affecting certain areas of the brain. The loss of these brain cells (neurons) results in impaired muscle coordination (ataxia), tremor, involuntary movement and speech disturbance (dysarthria). A wide variety in severity and age of onset may be found in all types of Olivopontocerebellar atrophy. (For more information on this disorder, choose "Olivopontocerebellar Atrophy" as your search term in the Rare Disease Database). Progressive Supranuclear Palsy (PSP) is a neurologic disorder associated with spastic weakness of muscles affected by the cranial nerves; i.e., muscles of the face, throat and tongue. Onset of the disorder usually occurs in middle age. The first noticeable symptom of this disorder is usually loss of balance while walking. Patients may have unexplained falls or a stiff awkwardness in the walk. New symptoms can develop during the course of PSP, and previously mild problems may become more severe with time. (For more information on this disorder, choose "Progressive Supranuclear Palsy" as your search term in the Rare Disease Database). Therapies: Standard With proper treatment, many Parkinson's disease patients may enjoy a normal life span. A number of drugs provide degrees of symptomatic relief. These include levodopa, anticholinergics and amantadine, a dopamine releasing agent that acts in coordination with levodopa. Anticholinergic agents such as trihexyphenidyl, benztropine mesylate, biperiden and diphenhydramine help control tremors and rigidity. Amantadine hydrochloride helps reduce tremors and rigidity and improves spontaneous movements. Bromocriptine (Parlodel) and/or pergolide (Permax) may be useful in some cases, particularly in conjunction with other drugs such as the combination of levodopa and carbidopa (Sinemet). The treatment of choice is a combination of levodopa (the precursor of an amino acid) and carbidopa (an enzyme inhibitor). This drug (Sinemet) tends to become less effective over time. Some doctors have suggested that patients try to prevent the "on-off" phenomenon by taking Sinemet an hour before meals since protein is found in almost all foods composed of amino acids which compete with levodopa for access to the brain. However, since many Parkinson's patients are debilitated due to the combined effects of the disease and aging, and may also have difficulty eating regularly due to tightened throat muscles, good nutrition is often difficult to maintain. Therefore, depleting protein in the diet of Parkinson's patients could be harmful or dangerous. Proper diet will permit absorption of the drug by the brain's receptor cells so that the protein in the meal will have much less effect on the drug's usefulness. If patients experience nausea with this method, they can take the drug with soda crackers or a similar non-protein snack. The orphan drug deprenyl (Eldepryl) was approved for marketing by the FDA in 1989. This drug is a monoamine oxidase inhibitor which can be used in late stage Parkinson's disease in combination with levodopa and carbidopa. More recent research suggests that Eldepryl given to people with early stage Parkinson's disease may significantly delay progression of more advanced symptoms. Physical therapy for Parkinson's patients may include exercises for speaking, swallowing and overall muscle tone. Exercises will not stop the disease's progression, but may reduce disability. Exercise can also improve the emotional well-being of a patient. Therapies: Investigational Additional dopamine agonist drugs are under investigation for Parkinson's disease. In the very early stages of experimentation is the implantation of cells from the patient's own adrenal gland or from fetal tissue into the brain to increase the amount of dopamine available to the affected structures. Animal studies continue to examine whether this procedure may become more effective in humans with time. Three studies published in the November 26th, 1992 issue of the New England Journal of Medicine indicate that fetal cell transplants into brains of people with Parkinson's Disease have resulted in moderate improvement of symptoms. Dosages of Parkinson's drugs were able to be reduced in most patients. However, more research is needed to determine the long-term effectiveness and reduction of brain damage from the surgery. Worldwide interest in drugs to treat Parkinson's disease is evident in the various new therapies being developed. In Italy, Farmitlalia Carlo Erba is investigating the drug cabergoline to treat Parkinson's symptoms. In Japan, Thomai researchers are studying the Dopamin D-2 agonist talipexole. In Israel, Teva Pharmaceuticals is developing TVP101 as a possible treatment. Merrell-Dow is testing MDL72974A. Hoffmann-LaRoche is studying the RO and N-(2 aminoethyl)-5-chloro-2-pyridine carboxamide. Ropinerole is being developed by SmithKline Beecham. Many of the trials are in early Phase I and II stages. The orphan product Apomorphine HCL injection is being tested for the treatment of the on-off fluctuations associated with late-stage Parkinson's Disease. The product is manufactured by: Britannia Pharmaceuticals Ltd. Forum House, Brighton Rd. Redhill, Surrey, UK This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Parkinson's disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Parkinson's Disease Foundation Columbia Presbyterian Hospital Neurologic Institute 710 W. 168th St. New York, NY 10032 (212) 923-4700 United Parkinson Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1421. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 2143-7. MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 707, 710-1, 1409, 1703. PRINCIPLES OF NEUROLOGY, 4th ed.: Raymond D. Adams, and Maurice Victor: McGraw Hill, Inc., 1989. Pp. 940-1. UNILATERAL TRANSPLANTATION OF HUMAN FETAL MESENCEPHALIC TISSUE INTO THE CAUDATE NUCLEUS OF PATIENTS WITH PARKINSON'S DISEASE: D.D. Spencerr, et al.; The New England Journal of Medicine; (November 26, 1992, issue 327 (22)). Pp. 1541-47. SURVIVAL OF IMPLANTED FETAL DOPAMINE CELLS AND NEUROLOGIC IMPROVEMENT 12 TO 42 MONTHS AFTER TRANSPLANTATION FOR PARKINSON'S DISEASE C.R. Freed, M.D., et al.; The New England Journal of Medicine; (November 26, 1992, issue 327 (22)). Pp. 1549-55. BILATERAL FETAL MESENCEPHALIC GRAFTING IN TWO PATIENTS WITH PARKINSONISM INDUCED BY 1-METHYL-4PHENYL-1,2,3,6-TETRAHYDROPYRIDINE: Hakan Widner, M.D., et al.; The New England Journal of Medicine; (November 26, 1992, issue 327 (22)). issue 327 (22)). Parkinson's Disease :pagetitle 4: Parkinson's Disease 04088.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 489: Parry-Romberg Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Parry-Romberg Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Progressive Hemifacial Atrophy Romberg Disease Romberg Hemifacial Atrophy Romberg Trophoneurosis Facial Hemiatrophy Information on the following diseases can be found in the Related Disorders section of this report: Scleroderma Trigeminal Neuralgia Jacksonian Epilepsy Horner Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Parry-Romberg Syndrome is a slowly progressive wasting (atrophy) of the soft tissues of the face. The disorder is usually limited to half of the face. Pain may occur in the affected area, and changes of the eyes and facial hair can accompany soft tissue changes. Parry-Romberg Syndrome may also be associated with other disorders. It can begin without warning, usually during the second decade of life. Facial atrophy may cease abruptly or progress slowly and then become stationary. Symptoms Parry-Romberg Syndrome is characterized by soft tissue wasting (atrophy) limited to one side of the face which usually begins without warning. Pain can occur in short episodes on the affected side, similar to the pain associated with Trigeminal Neuralgia. Sensory impairment, abnormally diminished or increased sweating, and tear duct dysfunction may also involve the affected area. Facial features may be shifted toward the affected side, a painless furrow may appear in the brow or cheek, the eye and cheek may become sunken, and the eyebrows and facial hair turn white and then fall out. Atrophy rarely affects muscle or bone, but can spread to the soft palate, tongue, and mucous membranes of the gums. Some individuals with Parry-Romberg Syndrome may be affected by Jacksonian (focal) Epilepsy. Causes The exact cause of Parry-Romberg Syndrome is not known. It was first identified by Doctors Parry in 1825 and Romberg in 1846. Scientists believe the disorder may be related to irritation, injury, or nerve inflammation (neuritis) in the peripheral sympathetic nervous system. A lesion of the trigeminal nerve of the face may also cause this disorder. Some cases are thought to be a form of Scleroderma. Affected Population Parry-Romberg Syndrome is a rare disorder which affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Parry-Romberg Syndrome. Comparisons may be useful for a differential diagnosis: Scleroderma is a group of chronic disorders characterized by fibrosis, degenerative changes, vascular abnormalities and an excess of collagen in the skin. Scleroderma is the chronic hardening and shrinking of the connective tissues of any part of the body, although the term literally means "hardening of the skin". Many forms of this disorder exist. Some scientists believe Parry-Romberg Syndrome, which affects only the face and neck, may be a form of Scleroderma. (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). Horner Syndrome, also known as Cervical Sympathetic Paralysis Syndrome, is characterized by contraction of the pupils of the eyes (miosis), prominent eyeballs (exophthalmos), partially drooping eyelids (ptosis), and absence of sweating (anhidrosis) limited to the face and neck. The exact cause of some cases of Horner Syndrome are not known, although scientists believe it is either inherited or the result of injury to the neck (cervical sympathetic ganglia). Similar symptoms may affect nerves of the face and neck in some patients with Parry-Romberg Syndrome. The following disorders may be associated with Parry-Romberg Syndrome as secondary characteristics. They are not necessary for a differential diagnosis: Trigeminal Neuralgia, also known as Tic Douloureux, is a nerve disorder characterized by attacks of acute pain at the side of the mouth and nose, along distribution of the trigeminal nerve. Pain occurs in intense, extremely short episodes (usually only a few seconds), and may be triggered in affected individuals by brushing teeth, chewing, and/or extreme heat or cold. Often, symptoms are limited to one side of the face. Excessive salivation, tearing of the eyes or flushing of the skin may signal episodes. This disorder can occur in conjunction with some cases of Parry-Romberg Syndrome. (For more information on this disorder, choose "Trigeminal Neuralgia" as your search term in the Rare Disease Database). Jacksonian Epilepsy is a form of partial epilepsy, beginning with an isolated disturbance of nerve function such as twitching of a limb, and progressing along the limb muscles usually from the hand or foot toward the trunk of the body. (For more information on this disorder, choose "Jacksonian Epilepsy" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Parry-Romberg Syndrome usually involves reconstructive and/or microvascular surgery. An injection of fat cells obtained by liposuction may be useful in some cases. Silicone implants can be used as well. Muscle or bone grafts are other procedures that may be helpful in some cases. Vision disturbances can be treated by an ophthalmologist. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Parry-Romberg Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-3643 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 NIH/National Institute of Dental Research (NIDR) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 References MENDELIAN INHERITANCE IN MAN, 7TH Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 294. PROGRESSIVE HEMIFACIAL ATROPHY (PARRY-ROMBERG DISEASE): M.T. Miller, et al.; J Pediatr Ophthalmol Strabismus (January-February 1987, issue 24(1)). Pp. 27-36. LIPOSUCTION FAT GRAFTS IN FACE WRINKLES AND HEMIFACIAL ATROPHY: A Chajchir, et al.; Aesthetic Plast Surg (1986, issue 10(2)). Pp. 115-117. THE USE OF FREE REVASCULARIZED GRAFTS IN THE AMELIORATION OF HEMIFACIAL ATROPHY: M.J. Jurkiewicz, et al.; Plast Reconstr Surg (July 1985, issue 76(1)). Pp. 44-55. HEMIFACIAL ATROPHY. A REVIEW OF AN UNUSUAL CRANIOFACIAL DEFORMITY WITH A REPORT OF A CASE: D.D. Dedo; Arch Otolaryngol (September 1978, issue 104(9)). Pp. 538-541. Parry-Romberg Syndrome pagetitle 489: Parry-Romberg Syndrome 04089.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 467: Pars Planitis _________________________ ** IMPORTANT ** It is possible the main title of the article (Pars Planitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms PP Peripheral Retinal Inflammation Information on the following diseases can be found in the Related Disorders section of this report: Cystoid Macular Edema Ocular Hypotension Autoimmune Endotheliopathy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pars Planitis is a vision disorder characterized by inflammation of the peripheral retina and pars plana (a section of the ciliary body connected to the retina) sections of the eye. Fluid and cells can infiltrate the clear gelatin-like substance (vitreous humor) near the retina and/or pars plana. Swelling inside the eye can also occur. These abnormalities may appear in one or both eyes. Symptoms Pars Planitis is primarily marked by blurred or poor night vision due to the presence of fluid or cells which produce collagen in the clear gelatin-like substance (vitreous humor) inside the eyeball. Swelling can occur inside the eye, particularly on the peripheral retina or macula. Glaucoma (increased pressure in the eye) shrinking (phthisis) of the eyeball, or other eye complications may occur. Causes The exact cause of Pars Planitis is not known. Inflammation of the peripheral retina and/or the pars plana (a section of the ciliary body which helps regulate the shape of the lens) is thought to cause symptoms of this disorder. Researchers believe it may be either a genetic or an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms suddenly begin to attack it's own healthy tissue. Affected Population Pars Planitis is a very rare vision disorder which affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Pars Planitis. Comparisons may be useful for a differential diagnosis: Cystoid Macular Edema is characterized by swelling (edema) of the central part of the retina as a result of abnormal leakage of fluid from capillaries. In Pars Planitis, swelling or leakage of fluid due to inflammation can affect the peripheral retina. Cystoid Macular Edema can sometimes be a complication of Pars Planitis. Ocular Hypotension is a condition defined as lowered blood pressure in the veins or capillaries inside the eye tissue. When this happens, vision disturbances similar to those of Pars Planitis may occur. This condition may in some cases be a complication of Pars Planitis. Autoimmune Endotheliopathy is an attack by the immune system on the layer of flat cells lining blood vessels (endothelium). This condition can occur in the blood vessels of the eyes as a complication of Pars Planitis, but can also occur alone in any part of the body. Therapies: Standard Treatment of Pars Planitis usually consists of corticosteroid drugs to control inflammation. Surgery may be recommended when more conventional treatment is not effective. High frequency surgical electrocautery (diathermy) or cryotherapy (freezing of tissue) may be used to seal blood vessels and arrest leakage. Therapies: Investigational This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pars Planitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Macular Diseases 210 East 64th Street New York, NY 10021 (212) 605-3719 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 References PARS PLANITIS AND AUTOIMMUNE ENDOTHELIOPATHY: A.A. Khodadoust, et al.; Am J Ophthalmol (November 15, 1986, issue 102 (5)). Pp. 633-639. ELECTROPHYSIOLOGIC CHANGES IN CHRONIC PARS PLANITIS: H.L. Cantrill, et al.; Am J Ophthalmol (April 1981, issue 91(4)). Pp. 505-512. THE SIGNIFICANCE OF THE PARS PLANA EXUDATE IN PARS PLANITIS: D.E. Henderly, et al.; Am J Ophthalmol (May 15, 1987, issue 103(5)). Pp. 669-671. Pars Planitis pagetitle 467: Pars Planitis 04090.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 726: Parsonnage-Turner Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Parsonnage-Turner Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Brachial Neuritis Brachial Plexus Neuritis Idiopathic Brachial Plexus Neuropathy Neuralgic Amyotrophy Information on the following diseases can be found in the Related Disorders section of this report: Peripheral Neuropathy Lyme Disease Rheumatoid Arthritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Parsonnage-Turner Syndrome is a common inflammation of a group of nerves that control and supply the muscles of the chest, arm, forearm and hand (brachial plexus). Symptoms Parsonnage-Turner Syndrome is characterized by severe neck and shoulder pain in the area above the collarbone (supraclavicular). This pain may radiate down the arm and into the hand. There can be muscle weakness, wasting (atrophy) and numbness (hyperesthesia) which can affect one or both sides of the body. People with this disorder usually recover within a few months although symptoms can last a couple of years. Recovery is usually complete. Causes The exact cause of Parsonnage-Turner Syndrome is not known. This disorder may occur following an injection (tetanus, diphtheria or allergy), surgery or infection with Lyme Disease. Some scientists believe that it may be an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack healthy tissue. Affected Population Parsonnage-Turner Syndrome can affect anyone, but is seen most often in young adult males. Related Disorders Symptoms of the following disorders can be similar to those of Parsonnage-Turner Syndrome. Comparisons may be useful for a differential diagnosis: Peripheral Neuropathy is a syndrome characterized by sensory, motor, reflex and blood vessel (vasomotor) symptoms. These symptoms can occur singly or in any combination. (For more information on this disorder, choose "Peripheral Neuropathy" as your search term in the Rare Disease Database.) Lyme Disease is a tick-transmitted inflammatory disorder characterized by an early focal lesion, and subsequently a growing red area on the skin (erythema chronicum migrans or ECM). The disorder may be followed weeks later by joint pain resembling arthritis and neurological or heart abnormalities. (For more information on this disorder, choose "Lyme" as your search term in the Rare Disease Database). Rheumatoid Arthritis is a common disease that affects the joints. The exact cause is unknown although it is believed to be an autoimmune disorder. It is characterized by a loss of appetite, extreme fatigue and joint pain with deformities. The location of painful joints may change (migration). Very often more than one joint is affected. Pain, early morning stiffness, aching joints chiefly in the hands, knees, feet, jaw and spine occur. Once affected, a joint may remain painful for a long time and eventually become deformed. (For more information on this disorder, choose "Arthritis" as your search term in the Rare Disease Database.) Therapies: Standard Most patients with Parsonnage-Turner Syndrome will recover without any treatment. Physical therapy or surgery may be helpful for some people with this disorder. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Parsonnage-Turner Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse (NIAMS) Box AMS Bethesda, MD 20892 (301) 495-4484 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2237. THE MERCK MANUAL, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1987. Pp. 1442. POSTPARTUM IDIOPATHIC BRACHIAL NEURITIS. D. Dimitru, et al.; OBSTET GYNECOL (March 1989, issue 73 (3)). Pp. 473-475. BRACHIAL NEURITIS INVOLVING THE BILATERAL PHRENIC NERVES. N. Walsh, et al.; ARCH PHYS MED REHABIL (January 1987, issue 68 (1)). Pp. 46-48. BRACHIAL PLEXUS NEUROPATHY. ASSOCIATION WITH DESENSITIZING ANTIALLERGY INJECTIONS. E. Wolpow; JAMA (November 10, 1975, issue 234 (6)). Pp. 1214-1217. SURGERY FOR LESIONS OF THE BRACHIAL PLEXUS. D. Kline, et al.; ARCH NEUROL (February 1986 issue 43 (2)). Pp. 170-181. BRACHIAL NEURITIS. L. Dillin, et al.; J BONE JOINT SURG [AM]. (July 1985 issue 67 (6)). Pp. 878-883. HYPERTROPHIC BRACHIAL PLEXUS NEURITIS: A PATHOLOGICAL STUDY OF TWO CASES. M. Cusiamano, et al.; ANN NEUROL (November 1988, issue 24 (5)). Pp. 615-622. INJURY TO THE BRACHIAL PLEXUS DURING PUTTI-PLATT AND BRISTOW PROCEDURES. A REPORT OF EIGHT CASES. R. Richards, et al.; AM J SPORTS MED (July-August 1987, issue 15 (4)). Pp. 374-380. Parsonnage-Turner Syndrome pagetitle 726: Parsonnage-Turner Syndrome 04091.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 230: Patulous Eustachian Tube _________________________ ** IMPORTANT ** It is possible the main title of the article (Patulous Eustachian Tube) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms P.E.T. General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. In Patulous Eustachian Tube dysfunction, the eustachian tube abnormally remains open constantly. This results from reduced soft tissue mass around this tube. Symptoms of this disorder occur when the patient's head has been erect for several hours. Symptoms Symptoms of Patulous Eustachian Tube dysfunction include a stopped-up feeling in the ear, and their voice will sound unusually loud to them. They may hear a rushing or blowing sound on respiration without a loss of hearing. In persons with this disorder, the eardrum moves in and out while the patient is breathing though the nose with the mouth closed. Causes Patulous Eustachian Tube is caused by loss of soft tissue around the eustachian tube, and by a lack of strength in the muscle which provides tension to the eardrum (the m. tensor veli palatini). The condition is often associated with recent weight loss, and with a high concentration of estrogens in the blood due to pregnancy or medication. Other causes of P.E.T. dysfunction are neuromuscular disorders such as multiple sclerosis, poliomyelitis, Parkinson's disease and neurovascular accident. Adhesions and scarring of the pharyngeal recess and of the posterior lip of the pharyngeal opening of the eustachian tube can also result in the disorder. Affected Population Patulous Eustachian Tube is most prevalent in women who have had a significant recent weight loss, in pregnant women, and in men and women who have taken estrogens. Related Disorders Middle Ear Effusion is the chronic accumulation of thick fluid in the middle ear. Deafness, fullness and crackling noises in the ears can occur as a result of this disorder. Therapies: Standard Temporary relief for patients with Patulous Eustachian Tube can be obtained by lying down or bending forward with the head between the knees. Sniffing can also provide momentary relief. Therapies: Investigational Patulous Eustachian Tube dysfunction has been treated surgically by cutting the hook around which the tendon of the tensor veli palatini muscle passes (pterygoid hamulotomy) combined with transposition or transection of the tendon of this muscle. Good results have been obtained in approximately 70% of persons undergoing this procedure. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Patulous Eustachian Tube, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Deafness & Other Communication Disorders (NIDCD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 Patulous Eustachian Tube pagetitle 230: Patulous Eustachian Tube 04060.TXT &Copyright (C) 1992 National Organization for Rare Disorders, Inc. 912: Oculo-Dento-Digital Dysplasia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Oculo-Dento-Digital Dysplasia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Dento-Oculo-Osseous Dysplasia ODD Syndrome Oculo-Dento-Osseous Dysplasia ODOD Osseous-Oculo-Dento Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Amelogenesis Imperfecta Ectodermal Dysplasias Oro-Cranio-Digital Syndrome Saethre-Chotzen Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Oculo-Dento-Digital Dysplasia is a rare disorder that may be inherited as an autosomal dominant trait or be caused by a new change in the genes that occurs for no apparent reason (mutation). Major symptoms of Oculo-Dento-Digital Dysplasia are webbing of the fourth and fifth fingers, an abnormally small transparent part of the eye (microcornea), a slender nose with narrow nostrils, underdevelopment of the outer flaring wall of each nostril (alae), defective enamel and dry hair that grows slowly. Symptoms Oculo-Dento-Digital Dysplasia is a rare disorder characterized by webbing of the fourth and fifth fingers, an abnormally small transparent front part of the eye (cornea), a slender nose, underdeveloped outer walls of each nostril, narrowing of the nostrils, defective enamel of the teeth and dry hair that grows slowly. Other symptoms that may be present in some patients with Oculo-Dento-Digital Dysplasia are: a thick lower jaw; an abnormally small head; permanent bending of the fourth and fifth fingers; webbing and/or permanent bending of the second third and fourth toes; abnormally small teeth; eyes that do not look in the same direction (strabismus); a build-up of fluid pressure in the eyeball (glaucoma); a short, narrow opening between the upper and lower eyelids; a vertical fold over the inner corner of the eye; atrophy of the eye; cleft lip and/or palate; and bone abnormalities in the toes and fifth finger. It is felt that there may be another form of Oculo-Dento-Digital Dysplasia in which the eye and skeletal changes are more severe. There have only been a few cases of this severe form documented and it is thought they may have been inherited as an autosomal recessive trait. The eyes are smaller than normal, slanted, set wide apart and blindness may occur. Skeletal abnormalities include overgrowth of the lower jaw, excessive thickening of bone tissue in the skull, an abnormally wide collarbone, and calcium deposits in the lobes of the ear. Other symptoms found in patients with autosomal recessive Oculo-Dento-Digital Dysplasia are a long narrow nose with underdeveloped outer flaring walls of the nostrils, irregular teeth with abnormal enamel, and webbing of the fourth and fifth fingers. Causes Oculo-Dento-Digital Dysplasia may be inherited as an autosomal dominant trait or as a new change in the genes that occurs spontaneously (mutation). There has also been an autosomal recessive form of the disorder documented but there has been very little evidence to support it. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Oculo-Dento-Digital Dysplasia is a very rare disorder that affects males and females in equal numbers. There have been approximately eighty-five cases reported in the medical literature. The autosomal recessive form of this disorder has only been documented in three cases. Related Disorders Symptoms of the following disorders can be similar to those of Oculo-Dento-Digital Dysplasia. Comparisons may be useful for a differential diagnosis: Amelogenesis Imperfecta is a rare genetic disorder characterized by a developmental defect of the tooth enamel. Secondary effects of this disorder may be early tooth loss, heightened susceptibility to disease of the tissues surrounding the teeth and increased sensitivity of the teeth to hot and cold. There are multiple types of this disorder and it is inherited through various modes of transmission. (For more information on this disorder, choose "Amelogenesis Imperfecta" as your search term in the Rare Disease Database). The Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, it's derivatives, and some other organs are involved. Patients have abnormal enamel on their teeth or missing teeth, and absent or unusual hair on their head. (For more information on this disorder choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Oro-Cranio-Digital Syndrome is a very rare disorder that is thought to possibly be inherited as an autosomal recessive trait. Symptoms of this disorder may be an abnormally small head, abnormalities of the thumbs and toes, growth retardation and cleft lip and/or palate. This disorder affects females slightly more often than males. Saethre-Chotzen Syndrome is a rare disorder thought to be inherited as an autosomal dominant trait. This disorder involves various craniofacial and skeletal malformations with abnormalities of the skin on the toes and finger. Short stature, and in some cases, mild to moderate mental retardation may also occur. (For more information on this disorder, choose "Saethre-Chotzen Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Patients with Oculo-Dento-Digital Dysplasia may benefit from surgery to repair the webbed fingers and bone malformations. Full crown restorations may be used to correct the defect in the enamel of the teeth. The crossed eyes (strabismus) may be corrected by wearing a patch over the strong eye in order to strengthen the weak eye. This procedure must be done at a young age in order to be affective. Surgery may also be performed in some cases. In older people whose strabismus is beyond the age of correction, the orphan drug Oculinum can be injected around the eye muscles to correct the crossed eyes. Injections must be repeated every few months. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through May 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Oculo-Dento-Digital Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 468-3235 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 668-9 and 1390-91. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1276-77. Oculo-Dento-Digital Dysplasia 'pagetitle 912: Oculo-Dento-Digital Dysplasia 04061.TXT 0Copyright (C) 1988, 1990 National Organization for Rare Disorders, Inc. 495: Olivopontocerebellar Atrophy _________________________ ** IMPORTANT ** It is possible the main title of the article (Olivopontocerebellar Atrophy) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Ataxia Spinal Cerebellar Atrophy DISORDER SUBDIVISIONS Olivopontocerebellar Atrophy I (SCA1; OPCA I, Menzel Type OPCA) Olivopontocerebellar Atrophy II (OPCA II, Fickler-Winkler Type) Olivopontocerebellar Atrophy III (OPCA III; OPCA With Retinal Degeneration) Olivopontocerebellar Atrophy IV (OPCA IV; Schut-Haymaker Type OPCA) Olivopontocerebellar Atrophy V (OPCA V; OPCA With Dementia and Extrapyramidal Signs) Information on the following diseases can be found in the Related Disorders section of this report: Friedreich's Ataxia Marie's Ataxia Ataxia Telangiectasia Charcot-Marie-Tooth Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Olivopontocerebellar Atrophy (OPCA) is a group of inherited forms of Ataxia characterized by progressive neurological degeneration affecting the olivopontocerebellar area of the brain. These inherited forms include Menzel type I, Fickler-Winkler type II, retinal degeneration type III, Schut-Haymaker type IV, and ophthalmoplegia (paralysis of facial and eye muscles) type 5 OPCA. However, cases have occurred which have defied classification in any of these five categories. Symptoms Olivopontocerebellar Atrophy (OPCA) is characterized by loss of nerve cells (neurons) in the cortex of the brain, base of the pons section of brainstem (basis pontis), and inferior olivary nuclei which is a prominence on the surface of the lower part of the brain (medulla oblangata). Loss of these neurons results in impaired muscle coordination (ataxia), tremor, involuntary movement, and a speech disturbance (dysarthria). Five clinical types of OPCA have been described, depending on additional findings, such as sensory loss, retinal degeneration, ophthalmoplegia, and extrapyramidal signs. However, cases have occurred which have defied classification in any of these five categories. A wide variation in severity and age of onset may be found in any of the five recognized classifications of Olivopontocerebellar Atrophy. Olivopontocerebellar Atrophy I (Menzel type OPCA) usually begins in the third or fourth decades of life, with an average onset at thirty years of age. In addition to cerebellar degeneration, other areas of the body become affected with speech abnormalities and/or tremors. Involuntary movements (chorea) may also occur. Olivopontocerebellar Atrophy II (OPCA II, Fickler-Winkler or Dejerine-Thomas type) differs from OPCA type I by a lack of involuntary movements. Onset of this disorder usually begins at approximately fifty years of age. The exact nature of this form of cerebellar atrophy is not well understood. Olivopontocerebellar Atrophy III (OPCA III; OPCA with retinal degeneration) is characterized by retinal degeneration. This form of OPCA usually begins during middle age, although it can begin at any age. It is also marked by blindness, tremor, weakness and impaired muscle coordination. Olivopontocerebellar Atrophy IV (OPCA IV; Schut-Haymaker type OPCA) is characterized by a form of paralysis (spastic paraplegia). The atrophy seems to be limited to the inferior olivary nucleus and cerebellum with varying involvement of the pons area of the brain. Abnormalities of the spinal cord and some of the cranial nerves may also occur. Symptoms usually begin at approximately twenty-five years of age. Olivopontocerebellar Atrophy V (OPCA V; OPCA with dementia and extrapyramidal signs) is characterized by cerebellar atrophy, tremors, ataxia and abnormal sensation, rigidity and mental deterioration. This disorder usually begins during adult life. Walking, writing and speech often become difficult as the disorder progresses. Causes Four of the five identified forms of Olivopontocerebellar Atrophy (OPCA) are inherited as autosomal dominant traits. OPCA II is inherited as an autosomal recessive trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Olivopontocerebellar Atrophy is a group of rare disorders which usually affect males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Olivopontocerebellar Atrophy. Comparisons may be useful for a differential diagnosis: Ataxia means walking with an unsteady gait caused by the failure of muscular coordination or irregularity of muscular action. There are many forms of Ataxia. Some ataxias are hereditary, some have other causes and sometimes ataxia can be a symptom of other disorders. To locate information about other types of ataxias, choose "Ataxia" as your search term in the Rare Disease Database. Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized by slow degenerative changes of the spinal cord and the brain. Dysfunction of the central nervous system affects coordination of the muscles in the limbs. Speech can be affected and numbness or weakness of the arms and legs may develop. Various transitional and overlapping forms of Friedreich's Ataxia can occur. Although no specific treatment can stop the progression of this disorder, some symptoms can be alleviated with proper treatment. In a few cases, spontaneous remissions may occur which can last five to ten years or sometimes longer. This syndrome appears to be the most common of the many different forms of hereditary Ataxia. It usually begins during childhood or the teen years. (For more information on this disorder, choose "Friedrich" as your search term in the Rare Disease Database). Marie's Ataxia is a neuromuscular syndrome inherited as a dominant trait. Also known as Pierre Marie's Disease or Hereditary Cerebellar Ataxia, it is characterized by a later onset of neurological and coordination disturbances. The syndrome usually begins between thirty and forty years of age and may not be as disabling as Friedreich's Ataxia. Initially, those affected may walk unsteadily and tend to fall frequently. Loss of coordination in the arms and speech disturbances may also occur. In later stages slight loss of vision, and loss of pain or touch sensations, may also occur. Tremors may develop when conscious motion is attempted. Swallowing and clearing of secretions may eventually become difficult if the throat muscles are affected. (For more information on this disorder, choose "Marie" as your search term in the Rare Disease Database). Charcot-Marie-Tooth Disease (CMT) is a hereditary neurological disorder characterized by weakness and atrophy, primarily in the legs. Disappearance of the fatty shield surrounding the nerve cells (segmental demyelination of peripheral nerves), and associated degeneration of part of the nerve cells (axons) characterize this disorder. (For more information on this disorder, choose "CMT" as your search term in the Rare Disease Database). Ataxia Telangiectasia, also known as Louis-Bar Syndrome, is an inherited progressive cerebellar ataxia that usually begins during infancy. It involves progressive loss of coordination in the limbs, head and eyes with a below-normal immune response to infections. In later stages, dilated blood vessels (telangiectasias) appear in the eyes and skin. Individuals with this form of Ataxia are more susceptible to sinus and lung infections and tend to have tumors (neoplasms). Ataxia Telangiectasia may be misdiagnosed as Friedreich Ataxia until dilated blood vessels appear in the skin (telangiectasias). (For more information on this disorder, choose "Louis-Bar" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Olivopontocerebellar Atrophy is symptomatic and supportive. Continuous medical supervision to avoid potential complications involving the heart, lungs, spine, bones and muscles is recommended. Prevention of infection is a challenge in the care of people in the advanced stages of Olivopontocerebellar Atrophy. Physical therapy may be recommended by a physician. Drugs may be useful in treating some symptoms. Propranolol may be effective against static tremors, and less often against intention tremors. Static tremors can occur when the affected individual is not moving, whereas intention tremors occur when the patient makes intentional movements. Dantrolene sodium may help some patients with muscle spasms of the legs. These drugs should be carefully monitored by a physician to limit the possibility of toxicity. Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Olivopontocerebellar Atrophy patients may be treated for spasticity using the drug baclofen. Genetic investigators are trying to identify the gene which causes this syndrome. Other experimental drugs, cell cultures, and analysis of central nervous system tissues are also under study. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Olivopontocerebellar Atrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Ataxia Foundation 750 Twelve Oaks Center 15500 Wayzata Blvd. Wayzata, MN 55391 (612) 473-7666 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 537-539, 874. OLIVOPONTOCEREBELLAR ATROPHY WITH DEMENTIA, BLINDNESS, AND CHOREA. RESPONSE TO BACLOFEN: D.A. Trauner; Arch Neurol (August 1985, issue 42(8)). Pp. 757-758. OLIVOPONTOCEREBELLAR ATROPHY. A REVIEW OF 117 CASES: J. Berciano; J Neurol Sci (February 1982, issue 53 (2)). Pp. 253-272. AN APOLOGY AND AN INTRODUCTION TO THE OLIVOPONTOCEREBELLAR ATROPHIES: R.C. Duvoisin; Adv Neurol (1984, issue 41). Pp. 5-12. Olivopontocerebellar Atrophy 1pagetitle 495: Olivopontocerebellar Atrophy 04062.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 337: Ollier Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Ollier Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Multiple, Cartilaginous Enchondroses Multiple Enchondromatosis Ollier Osteochondromatosis Unilateral Chondromatosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ollier Disease is a rare abnormal development of the bones (skeletal dysplasia) usually beginning in childhood. The disease affects bones and cartilage in joints of the arms and legs. Dwarfism is possible if both sides of the body are affected. Pain is rare in this disease, occurring usually only in case of a fracture. Symptoms Ollier Disease begins gradually, usually during childhood, and is marked by possible shortening of the arms and/or legs. Limping may result from a shortened leg. The head and upper body will be normal. Joint deformities may occur in wrists and/or ankles. A dislocation of the elbow or other joints may occur, possibly causing fractures. This disease may occasionally be associated with some forms of cancer. The abnormal growth of bone end/cartilage areas ceases in time, and calcification may begin after puberty. The bone abnormalities may be in evidence throughout life. Causes The origin of Ollier Disease is unknown at this time. Overgrowth of cartilage cells in certain skeletal and/or joint areas may cause thinning of the external layer (cortex) and distortion of growth in the spongy growth area (metaphysis) of long bones. Affected Population Ollier Disease usually begins in childhood, and may be in evidence later in life. This disease may affect males and females in equal numbers, and can occur worldwide. Related Disorders Exostosis is a hereditary abnormality of bone end/cartilage (epiphyseal) growth inherited as a dominant trait. Although usually without apparent symptoms, pain may be possible due to pressure from benign bone surface growths (exostoses). This is an extremely rare condition, occurring chiefly among Micronesian Islanders. It is most frequent and severe in males. Symptoms may be similar to Ollier Disease, although areas of joint deformity may differ. Maffucci Syndrome is a hereditary genetic disease which may begin between birth and puberty, and is marked by asymmetric distribution of lesions, and abnormal growth of cartilage in one or more long bones. Susceptibility to fractures and skin manifestations are also characteristic of this type of abnormal bone development (skeletal dysplasia). Therapies: Standard Bone grafts have been of benefit to patients with Ollier Disease, as well as surgical treatment of limb length. Fractures usually heal without any follow-up treatment. Prosthetic replacement of the limb may be of benefit in some extreme cases. Therapies: Investigational Research into the causes, as well as orthopedic surgical treatment for Ollier Disease is ongoing. For more information, please see the resources section in this report. This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ollier Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Ollier Disease Support Group Bridge House 45 Baring Road Beaconsfield, Bucks, England HP9 2NF National Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 References TREATMENT OF MULTIPLE ENCHONDROMATOSIS (OLLIER'S DISEASE) OF THE HAND: J.F. Fatti, et. al.; Orthopedics (April 1986: issue 9(4)). Pp.512-518. OLLIER'S DISEASE. AN ASSESSMENT OF ANGULAR DEFORMITY, SHORTENING, AND PATHOLOGICAL FRACTURE IN TWENTY-ONE PATIENTS: F. Shapiro; J Bone Surg (Am) (Jan. 1982: issue 64-A (1)). Pp. 95-103. MULTIPLE CHONDROSARCOMAS IN DYSCHONDROPLASIA (OLLIER'S DISEASE): S.R. Cannon, et. al.; Cancer (Feb. 15, 1985: issue 55(4) ). Pp. 836-840. Ollier Disease pagetitle 337: Ollier Disease 04063.TXT 0Copyright (C) 1991 National Organization for Rare Disorders, Inc. 828: Opitz Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Opitz Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms BBB Syndrome BBBG Syndrome G Syndrome Hypospadias-Dysphagia Syndrome Hypertelorism-Hypospadias Syndrome Hypertelorism with Esophageal Abnormalities and Hypospadias Opitz BBB/G Compound Syndrome Opitz BBBG Syndrome Opitz BBB Syndrome Opitz-Frias Syndrome Opitz G Syndrome Opitz Hypertelorism-Hypospadias Syndrome Opitz Oculogenitolaryngeal Syndrome Telecanthus-Hypospadias Syndrome Telecanthus with Associated Abnormalities Disorder Subdivisions: G Syndrome BBB Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Waardenburg Syndrome Imperforate Anus VACTERL Association General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Opitz Syndrome is an uncommon hereditary disorder. Major symptoms may include unusually wide-set eyes (hypertelorism), an abnormal opening on the underside of the penis in males (hypospadias), a cleft lip, an abnormal fissure in the roof of the mouth (cleft palate) and/or swallowing defects (choking, aspiration). In some patients, there is an absence of an anal opening (imperforate anus). Symptoms Opitz Syndrome was initially thought to represent two different hereditary disorders: Opitz G Syndrome and Opitz BBB Syndrome. Several researchers have concluded that the two syndromes are really just a single condition with symptoms which vary both in type and severity from patient to patient. Some researchers feel, however, that "Opitz G" and "Opitz BBB" are two separate disorders. Below are the differences between Opitz G and Opitz BBB syndromes. SYMPTOMS COMMON TO BOTH: Individuals with both forms of Opitz Syndrome generally have unusually wide-set eyes (hypertelorism). Males often have an abnormal opening located on the underside of the penis (hypospadias), a cleft in the scrotum (bifid scrotum) and/or undescended testicles (cryptorchidism). Females usually have normal genitals or a minor malformation of the outer area of the genitals ("splayed" labia majora). The ears may be slightly rotated on the head (posterior angulation of auricle). Individuals may have a "widow's peak" of hair on the forehead. Mild mental retardation and/or hernias may also occur. Occasionally, the following symptoms may occur in both forms of Opitz Syndrome: the anal opening may be absent (imperforate anus). There may be a split of the upper lip (cleft lip or "harelip"), and/or an abnormal fissure in the roof of the mouth (cleft palate). Sometimes the back of the mouth may have a fissure as well (cleft uvula). A shorter than average connection (membrane) between the floor of the mouth and the underside of the tongue (frenulum) may be present. In some patients, one eye may be crossed (strabismus). Eyelid abnormalities (downslanting palpebral fissures) may occur. There may also be an irregular shape to the head (cranial asymmetry). Abnormalities of the heart (cardiac anomaly), or abdominal muscles (diastasis recti) are infrequent. Other uncommon symptoms include absence or inadequate development (agenesis) of the gallbladder or defects of the kidney (renal defects). Part of the small intestine may be narrower than normal (duodenal stricture) in some patients. Twins, especially identical twins, may occur more often in families having this disorder (increased monozygotic twinning). SYMPTOMS COMMON TO OPITZ G SYNDROME: Babies with Opitz G Syndrome may have a weak, hoarse cry. Swallowing or breathing is usually difficult. In some babies food may go into the lungs (recurrent aspiration) because of breathing and swallowing problems, possibly due to nerve and muscle dysfunction, or malformations. These malformations may include a malformed larynx, a cleft between the larynx or "voicebox" and windpipe (laryngotracheal cleft), or an abnormal passage between the windpipe and upper digestive tract (tracheoesophageal fistula). Lungs may be underdeveloped (pulmonary hypoplasia). Below the vocal cords the throat may narrow (subglottic stenosis) or there may be an inability to relax muscles of the upper digestive tract (achalasia of esophagus). The bridge of the nose is usually broad and flat with the openings of the nose set more forward than usual (nares anteverted). The jaw may be unusually small (micrognathia) and the roof of the mouth (palate) may have a high arch. SYMPTOMS COMMON TO OPITZ BBB SYNDROME: In Opitz BBB Syndrome, respiratory and swallowing difficulties or a hoarse voice are not present. Physical features of the face are different from those of Opitz G Syndrome. The bridge of the nose is often high and broad. Congenital heart disease such as coarctation of the aorta and atrial septal defect may occur in some patients. Abnormalities of the upper urinary tract, a twisted intestine (volvulus), or a small penis may also occur. Causes Opitz G Syndrome is inherited as an autosomal dominant trait with abnormalities of the genitals occurring only in males. Opitz BBB Syndrome is believed by some researchers to be inherited as an X-linked dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. X-linked dominant disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Because males only have one X chromosome, affected males always have a more severe condition. The female with only one X chromosome affected will develop the disease; however, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Affected Population Both forms of Opitz Syndrome (G and BBB) are rare genetic disorders present at birth. They affect males more often and more severely than females. Related Disorders Symptoms of the following disorders can be similar to those of Opitz Syndrome. Comparisons may be useful for a differential diagnosis: Waardenburg Syndrome is characterized by displacement of the inner folds of the eyelids, prominence of the nose, and overdevelopment of the eyebrows. The patient may have two different colored eyes or two colors in one iris of the eye. Congenital (present at birth) nerve deafness may also occur. A white streak of hair in the front (forelock) of the head or early graying of the hair are characteristic of this disorder. A thin nose with flaring nostrils, a "cupid bow" configuration of the lips, wide-set eyes, inflammation of the tear sac and drooping of the upper eyelids may occur. A lack of an indent between the nose and the forehead, prominent lower jaw and a clefted or high-arched palate may also be present. (For more information on this disorder, choose "Waardenburg" as your search term in the Rare Disease Database). Imperforate Anus is a rare congenital abnormality characterized by the absence or abnormal location of the anus. The rectum or colon may be connected to the vagina or the bladder by a tunnel (fistula). With surgical correction, normal fecal elimination can become possible. Imperforate Anus can occur alone or as a symptom of another disorder. (For more information on this disorder, choose "imperforate anus" as your search term in the Rare Disease Database). VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia (absence of a normal anal opening), congenital (C)ardiac disease, (T)racheo(E)sophageal fistula (abnormal openings or passages between the windpipe and/or upper digestive tract), (R)enal anomalies, radial dysplasia, and other (L)imb defects. These abnormalities are present at birth. (For more information on this disorder, choose "VACTERL" as your search term in the Rare Disease Database). Therapies: Standard Ultrasound testing (a technique which uses sound waves to form pictures) before birth may indicate the presence of Opitz Syndrome. If there is swelling of the fetus before birth due to a build-up of fluids, this can be treated while the baby is still in the womb. Treatment of Opitz Syndrome often includes corrective surgery for malformations. Special education and related services may be helpful for children with this disorder. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Some researchers believe conditions of the baby's environment before birth may influence the severity of symptoms present in Opitz Syndrome. Research on Opitz Syndrome and its heredity is ongoing. This disease entry is based upon medical information available through January 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Opitz Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Dr. John Opitz Shodair Children's Hospital P.O. Box 5539 Helena, MT 59604 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 496, 1723. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 114-117. BBBG SYNDROME OR OPITZ SYNDROME: NEW FAMILY. A. Verloes, et al.; Am J Med Genet (Nov 1989; issue 34 (3)). Pp. 313-316. CONGENITAL ANAL ANOMALIES IN TWO FAMILIES WITH THE OPITZ G SYNDROME. J. L. Tolmie, et al.; J Med Genet (Nov 1987; issue 24 (11)). Pp. 688-691. OPITZ-FRIAS SYNDROME. A CASE WITH POTENTIALLY HAZARDOUS ANAESTHETIC IMPLICATIONS. S. N. Bolsin and C. Gillbe; Anaesthesia (Dec 1985; issue 40 (12)). Pp. 1189-1193. OPITZ (G) SYNDROME. C. P. Kimmelman and J. C. Denneny; Int J Pediatr Otorhinolaryngol (Oct 1982; issue 4 (4)). Pp. 343-347. PRENATAL DIAGNOSIS OF OPITZ (BBB) SYNDROME IN THE SECOND TRIMESTER BY ULTRASOUND DETECTION OF HYPOSPADIAS AND HYPERTELORISM. C Hogdall, et al.; Prenat Diagn (Nov 1989; issue 9 (11)). Pp. 783-793. PRENATAL TREATMENT OF FETAL HYDROPS ASSOCIATED WITH THE HYPERTELOR SYNDROME (OPITZ-G SYNDROME). M. A. Patton, et al.; Prenat Diagn (Mar-Apr 1986; issue 6 (2)). Pp. 109-115. THE OPITZ HYPERTELORISM-HYPOSPADIAS SYNDROME. FURTHER DELINEATION OF THE SPECTRUM OF CLINICAL FINDINGS. A. M. Dereymaeker, et al.; J Genet Hum (Aug 1987; issue 35 (4)). Pp. 259-265. THE OPITZ SYNDROME: A NEW DESIGNATION FOR THE CLINICALLY INDISTINGUISHABLE BBB AND G SYNDROMES. M. Cappa, et al.; Am J Med Genet (Oct 1987; issue 28 (2)). Pp. 303-309. Opitz Syndrome 1pagetitle 828: Opitz Syndrome 04064.TXT Copyright (C) 1986, 1987 National Organization for Rare Disorders, Inc. 113: Opportunistic Infections _________________________ ** IMPORTANT ** It is possible that the main title of the article (Opportunistic Infections) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Infections in the Compromised Host Infections in the Immunocompromised Host Infections in the Immunodeficient Host General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Opportunistic infections are mild to life threatening infections caused by microorganisms that normally do not cause disease. They occur in patients whose immunologic, anatomic, or physiologic defense mechanisms have been compromised. The inability to resist such infections usually results from disease or trauma, or from procedures or drugs used to treat an underlying disorder. Bacteria, fungi, viruses, and other parasites may cause opportunistic infections. Symptoms vary with the microorganism and organ systems involved. Management of these infections may be difficult because most of the microorganisms involved are resistant to antibiotics. Symptoms Symptoms vary with the causative agent and the organ system(s) affected. They may be mild to very severe, and can transform a relatively good prognosis into a dangerous one. Organisms recovered from blood, cerebrospinal fluid, or the fluid in the various body cavities (chest, abdomen, etc.) provide the best diagnosis. Below is a listing of the more common microorganisms that can cause illness in individuals with diminished defences against infection. To some extent, the microorganisms vary with the specific kind of defect (anatomic; in the inflammatory response; in the immune response; etc.). See the references below, or check the Rare Disease Database for articles on particular predisposing conditions. Most opportunistic infections are caused by bacteria. Persons with defects in the immune system's T-cells are especially susceptible to viral, fungal, and parasitic infections. I. Bacteria Staphylococci, e.g. S. aureus, S. epidermidis Streptococci, e.g. S. pyogenes Pseudomonas species, e.g. P. aruginosa Providentia species, e.g. P. rettgeri and P. fragilis Enterobacilli Klebsiella species Listeria species Cryptococcus species Nocardia species Mycobacteria, e.g. M. tuberculosis Salmonella species Hemophilus influenzae Oral bacteria II. Fungi Candida species Mucor species III. Protozoa Pneumocystis carinii IV. Parasites Toxoplasma species V. Viruses Cytomegalovirus Varicella-zoster virus (chicken pox) Herpes virus See section on cause for more information. Causes Host defense mechanisms can be impaired by burns, anemia, tumors, metabolic disorders, radiation therapy, immunosuppressive drugs or drugs that damage the patient's tissues, corticosteroid drugs, or certain diagnostic or therapeutic procedures that involve inserting instruments into the body, e.g. endotracheal tubes and catheters. Antibiotic treatment of the more usual kind of infections caused by normally pathogenic organisms also changes the relationship between the host and the usually innocuous microorganisms that are always present in or on the host. In such cases, a superinfection can develop. Infants, the very old, people with chronic disease (infectious or otherwise), and the excessive or indiscriminate use of a single antibiotic or broad spectrum antibiotics, predispose to superinfections. Diseases in which the immune system fails include cancers such as leukemia, aplastic anemia, Hodgkin's disease, and myeloma; they also include the Acquired Immune Deficiency Syndrome (AIDS), and the various congenital immunodeficiency diseases. Therapies: Standard Prevention is very important in dealing with opportunistic infections. The use of broad spectrum antibiotics (i.e., those which kill many different kinds of organisms rather than a small group) should be avoided if possible. So should massive doses or the prophylactic use antimicrobials. Instruments used in diagnosis or therapy must be kept absolutely sterile. Gammaglobulin injections help prevent infections in patients who lack gammaglobulins. Isoniazid and trimethoprim-sulfamethoxazole are useful in preventing certain infections in patients undergoing chemotherapy or treatment with immunosuppressive drugs, including corticosteroids. Treatment of an existing opportunistic infection is specific to the infection. Correction of the underlying disorder is usually necessary to cure (rather than suppress) the infection. Thus, catheters must be removed, tracheostomies closed, corticosteroid therapy stopped, etc. as early as possible. Therapies: Investigational Liposomal Amphotericin B., used in the treatment of opportunistic fungal infections, has been designated an orphan drug and is being studied in the United States as a treatment for this type of infection. It should be remembered that although this orphan drug is available experimentally in the United States, it is still under study and conclusive results are not yet reported. For additional information about liposomal amphotericin B, physicians can contact: Smith, Kline & Beckman 1500 Spring Garden Street P.O. Box 7292 Philadelphia, PA 19101 Clinical trials are being conducted on the orphan drug CD5-T Lymphocyte Immunotoxin (Xomazyme-H65) to eliminate mature T cells from potential bone marrow grafts, and for treatment of bone marrow recipients to prevent graft rejection and Graft vs. Host Disease (GVHD). For additional information, physicians can contact: XOMA Corp. 2910 Seventh St. Berkeley, CA 94710 Another orphan drug, ST1-RTA Immunotoxin (SR44163) to prevent acute Graft vs Host Disease (GVHD) in allogenic bone marrow transplantation is being tested by Sanofi, Inc. For additional information, physicians can contact: Sanofi, Inc. 101 Park Ave. New York, NY 10178 For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Opportunistic Infections, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Immune Deficiency Foundation 3565 Ellicott Mill Drive, Unit B2 Ellicott City, MD 21043 (800) 296-4433 (410) 461-3127 American Foundation for AIDS Research (AMFAR) 40 W. 57th St., Suite 406 New York, NY 10019 (212) 333-3118 Centers for Disease Control (CDC) 1600 Clifton Road Atlanta, GA 30333 (404) 639-3534 References Youmans, Guy P., Paterson, P.V., and Sommers, H.H., The Biological and Clinical Basis if Infectious Diseases. W.B. Saunders Co., Philadelphia: 1980. Pages 741-53.... Opportunistic Infectionsg j pagetitle 113: Opportunistic Infections 04065.TXT @$1$Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc. 531: Oral-Facial-Digital Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Oral-Facial-Digital Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Mohr Syndrome OFD Syndrome Orofaciodigital Syndrome Oral-Facial-Digital Syndrome DISORDER SUBDIVISIONS: Oral-Facial-Digital Syndrome I Oral-Facial-Digital Syndrome II Oral-Facial-Digital Syndrome III Oral-Facial-Digital Syndrome IV Information on the following diseases can be found in the Related Disorders section of this report: Juberg-Hayward Syndrome Nager Acrofacial Dysostosis, AFD, Nager Type Joubert Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Oral-Facial-Digital Syndrome (OFD) is a genetic disorder. Major symptoms include many episodic neuromuscular disturbances, congenital malformations such as cleft palate, other facial deformities, malformation of the hands and feet, shortened limbs and various degrees of mental retardation. Symptoms Four types of Oral-Facial-Digital Syndrome have been identified. Symptoms Common to all types include episodic neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue (frenulum), a broad based nose, vertical folds of skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, shorter than normal fingers and/or toes, and more than the normal number of divisions between skull sections. Children born with Oral-Facial-Digital Syndrome (OFD) type I have coarse thin hair, grainy skin lesions, and the development of more than the normal number of fingers on one hand only (unilateral polysyndactyly). Patients with OFD II have much the same symptoms as those of Type I although they also have more than the normal number of toes on both feet. Type III OFD is characterized by more than the normal number of teeth and a wider eye opening during chewing ("jaw winking"). OFD type IV is distinguishable from other types of this disorder because it is marked by shortened limbs. Some patients also have psychomotor retardation, clefts of the jaw and tongue, and tooth malformations. Abnormalities of the jaw, tongue and upper lip occur as well as eye problems, such as "seesaw winking" and outward focusing of the eyes independently of each other (exotropia). Causes The exact cause of OFD is not known although it is suspected to be inherited in types II, III, and IV as an autosomal recessive trait. Type I OFD is suspected to be inherited as an X-linked dominant trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. In X-linked dominant disorders, the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe condition. Sometimes affected males die before birth so that only female patients survive. Affected Population Oral-Facial-Digital Syndrome is a very rare disorder. Most types affect males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Oral-Facial-Digital Syndrome. Comparisons may be useful for a differential diagnosis: Juberg-Hayword Syndrome (Orocraniodigital Syndrome) is a rare hereditary disorder characterized by cleft lip and palate malformations, a smaller than normal sized head, deformities of the thumbs and toes, and growth hormone deficiency resulting in short stature. Nager Acrofacial Dysostosis, AFD, Nager Type, (Mandibulofacial Dysostosis) is a rare hereditary disorder marked by abnormal facial development. This results in cleft lip and palate, defective development of bones of the jaw and arms, and smaller than normal thumbs. Joubert Syndrome is a very rare hereditary neurological disorder marked by malformation of the area of the brain which controls balance and coordination. Neuromuscular and eye movement disturbances similar to those of Oral-Facial-Digital Syndrome occur. Additionally, psychomotor retardation, and/or respiratory abnormalities may develop. Some of the symptoms may decrease with age. (For more information on this disorder, choose "Joubert Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Oral-Facial-Digital Syndrome may involve reconstructive surgery for facial clefts. Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Oral-Facial-Digital Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 About Face 99 Crowns Lane Toronto, Ontario M5R 3PA Canada (416) 944-3223 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Foundation for Facial Reconstruction 550 First Avenue New York, NY 11016 (212) 340-6656 For Information on Cleft Palate: American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT Prescription Parents, Inc. P.O. Box 426 Quincy, MA 02269 (617) 479-2463 National Cleft Palate Association 1218 Grandview Ave. Pittsburgh, PA 15211 1-800-24CLEFT 1-800-23CLEFT National Foundation of Dentistry for the Handicapped 1250 14th Street, Suite 610 Denver, Colorado 80202 (303) 573-0264 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles: MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1118, 1175, 1438. THE SPECTRUM OF THE ORO-FACIAL-DIGITAL SYNDROME; O.M. Fenton, et al.; Br J Plast Surg (October 1985, issue 38(4)). Pp.532-539. MOHR SYNDROME IN TWO SIBLINGS: A. Gencik, et al.; J Genet Hum (December 1983, issue 31(4)). Pp. 307-315. PRENATAL DIAGNOSIS OF MOHR SYNDROME BY ULTRASONOGRAPHY: M. Iaccarino, et al.; Prenat Diagn (November-December 1985, issue 5(6)). Pp. 415-418. OROCRANIODIGITAL (JUBERG-HAYWARD) SYNDROME WITH GROWTH HORMONE DEFICIENCY; H. M. Kingston, et al.; Arch Dis Child (October 1982, issue 57 (10)). Pp. 790-792. A CASE OF THE OROCRANIODIGITAL (JUBERG-HAYWARD) SYNDROME; N. C. Nevin, et al.; J. Med. Genet (December 1981, issue 18 (6)). Pp. 478-481. SYNDROME OF ACROFACIAL DYSOSTOSIS, CLEFT LIP/PALATE, AND TRIPHALANGEAL THUMB IN A BRAZILIAN FAMILY; A. Richieri-Costa, et al.; Am J Med Genet (1983 issue 14). Pp. 225-229. Oral-Facial-Digital SyndromeK% N%pagetitle 531: Oral-Facial-Digital Syndrome 04066.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 829: Organic Mood Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Organic Mood Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Organic Affective Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Dysthymia Major Depression Cyclothymic Disorder Bipolar Manic-Depression Atypical Bipolar Disorder General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Organic Mood Syndrome is a mental disorder due to physical causes. Either "manic" symptoms of unusual euphoria or irritability, or "depressive" symptoms of despondency, fear, anxiety, or suspiciousness may be present. Other symptoms may be present as well. Symptoms Organic Mood Syndrome is a mental disorder due to physical causes. Patients may feel either "manic" or "depressive." Manic symptoms include unusual happiness, euphoria, emotional instability, restlessness, or irritability. Depressive symptoms include sadness, lack of interests, anxiety, fear, suspiciousness, irritability, panic, worry about health, tearfulness, or brooding. Feelings of worthlessness, "persecution," delusions or hallucinations may also occur. Causes Organic Mood Syndrome has an underlying physical cause. Reserpine or methyldopa, which are drugs for treatment of hypertension, may cause depressive symptoms. Endocrine disorders such as hyperthyroidism, hypothyroidism, hyperadrenocorticalism, or hypoadrenocorticalism can cause either depressive or manic symptoms. Carcinoma (cancer) of the pancreas, drugs which induce hallucinations, or illness caused by a virus may lead to Organic Mood Syndrome as may stroke, or other diseases of the brain. Affected Population Organic Mood Syndrome is a mental disorder due to physical causes which affects males and females of all ages in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Organic Mood Syndrome. Comparisons may be useful for a differential diagnosis: Dysthymia is a common psychological disorder characterized by a chronic but mild depressive state that has been present in an individual for more than two years. During periods of depressed mood, there may be poor appetite or overeating, an inability to sleep (insomnia) or oversleeping (hypersomnia), low energy or fatigue, low self-esteem, poor concentration, difficulty making decisions and feelings of hopelessness. (For more information on this disorder, choose "Dysthymia" as your search term in the Rare Disease Database). Major Depression is a mood disorder characterized by severe depression with loss of interest or pleasure in all or nearly all activities for a period of at least two weeks. Symptoms may include appetite disturbance, change in weight, sleep disturbance, decreased energy, agitated or slowed movements, feelings of worthlessness, excessive or inappropriate guilt, difficulty thinking or concentrating, or recurrent thoughts of death and suicide. This diagnosis is made only after it has been established that there are no underlying physical causes. Cyclothymic Disorder is a chronic mood disorder involving numerous periods of depression and a mild form of over-elation and hyperactivity (hypomania). Symptoms, which last at least two years, may be a little less severe than those in Major Depression and in manic occurrences. Bipolar Manic Depression is a mental illness in which intense mood swings occur, usually with remissions and recurrences. Depressive symptoms may be most common and can last at least a full day and perhaps several weeks or longer. Manic symptoms may involve hyperactivity and feelings of invincibility, happiness and restlessness. (For more information on this disorder, choose "Manic Depression" as your search term in the Rare Disease Database). Atypical Bipolar Disorder is a category for individuals with manic symptoms who cannot be classified as having Bipolar Manic Depression or Cyclothymic Disorder. For example, an individual who previously had a major depressive occurrence now has an episode of mild manic symptoms that are not of sufficient severity and duration to satisfy the criteria for a manic episode. This can be classified as Atypical Bipolar Disorder; this illness is also referred to as "Bipolar II." Therapies: Standard Once the underlying cause of Organic Mood Syndrome has been identified, necessary steps can be taken to treat the patient. If it is due to a certain drug, for example, other drugs may be prescribed instead; if it is caused by another disease, treatment of that disorder may result in the disappearance of the psychiatric symptoms. Counseling may also be of benefit. Therapies: Investigational As medical knowledge and technology advance more is learned about the human body, side effects of drugs, and neuropsychiatric illnesses. In the future it is hoped that scientists will be able to prevent disorders such as Organic Mood Syndrome, when brain chemistry is better understood. This disease entry is based upon medical information available through January 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Organic Mood Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Mental Health Association 1021 Prince Street Alexandria, VA 22314 (703) 684-7722 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) References DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3rd Ed. rev.: R.L. Spitzer, et al., eds; American Psychiatric Association, 1987. Pp. 111-112. DEVELOPMENT OF AN ORGANIC AFFECTIVE SYNDROME DURING A HYPERBARIC DIVING EXPERIMENT. A. Stoudemire, et al.; Am J Psychiatry (Oct 1984; issue 141 (10)). Pp. 1251-1254. MAJOR DEPRESSION VERSUS ORGANIC MOOD DISORDER: A QUESTIONABLE DISTINCTION. B.S. Fogel; J Clin Psychiatry (Feb 1990; issue 51 (2)). Pp. 53-56. MOOD CHANGES AFTER RIGHT-HEMISPHERE LESIONS. S.E. Starkstein, et al.; Br J Psychiatry (Jul 1989; issue 155). Pp. 79-85. ORGANIC MENTAL DISORDERS CAUSED BY HIV: UPDATE ON EARLY DIAGNOSIS AND TREATMENT. S.W. Perry; Am J Psychiatry (Jun 1990; issue 147 (6)). Pp. 696-710. Organic Mood Syndrome pagetitle 829: Organic Mood Syndrome 04067.TXT 'Copyright (C) 1990 National Organization for Rare Disorders, Inc. 782: Organic Personality Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article Organic Personality Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Personality Syndrome, Organic Information on the following disorders can be found in the Related Disorders section of this report: Antisocial Personality Disorder Attention-Deficit Hyperactivity Disorder (ADHD) Dementia Huntington's Chorea (Huntington's Disease) Schizophrenia Temporal Lobe Epilepsy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Organic Personality Syndrome is a mental disorder characterized by a persistent personality disturbance due to an organic cause. Significant changes in the personality may endure for a short or long time, depending on the cause. The degree of impairment varies in each case. Symptoms In Organic Personality Syndrome, character traits are either more pronounced or different from usual behavior. Symptoms usually show themselves in one of three basic patterns depending on the nature and location of the brain dysfunction. The first pattern is the most common, and is characterized by emotional instability, faulty social judgement, possible belligerence and/or an over-reactive temper. The person may engage in inappropriate social behavior without regard for the consequences (e.g. sexual indiscretions). The second pattern may include significant signs of apathy and indifference. The person has no concern for, or interest in his or her immediate environment or former customary hobbies. Both of these patterns may be caused by damage to the frontal lobes of the brain (frontal lobe syndromes). The third pattern of behavior, seen in some disorders affecting the temporal lobe, is marked by a strong tendency to be humorless and overly redundant in both speech and writing, and by overzealous religious devotion. Occasionally, the person may show extreme rage. One of the major changes in this behavior may be unreasonable suspiciousness or paranoid ideas. If the main symptom is outbursts of aggression or rage, the patient may be labeled as an "Explosive Type". Causes There are several possible causes for Organic Personality Syndrome. It is generally due to structural brain damage from neoplasms (tumors), head trauma, or cerebrovascular disease involving the upper part of the brain and the blood vessels supplying it. Less commonly, endocrine disorders such as thyroid and adrenocortical (outer part of adrenal gland) disease, or ingesting certain psychoactive substances (drugs that affect the mind or behavior) may cause this syndrome. The syndrome may be of short duration if caused by medications, drug abuse, or certain types of tumors that are surgically removed. It may be of long duration if it is secondary to structural brain damage. Affected Population Organic Personality Syndrome is a prevalent disorder that affects males and females of all ages in equal numbers. It is often a symptom of an underlying disease or condition. Related Disorders Symptoms of the following disorders can be similar to those of Organic Personality Syndrome. However, personality changes can occur in many disorders that are not due to an organic reason. Psychiatric and/or neurological consultation should be sought to determine the cause of any serious or prolonged change in behavior. Schizophrenia is a prevalent mental illness characterized by loss of contact with reality, marked deterioration in ability to function, and extreme personality change. Delusional disorders, mood disorders, and impulse control disorders are not related to Organic Personality Syndrome, even though they cause marked changes in personality. (For more information on this disorder, choose "Schizophrenia" as your search term in the Rare Disease Database). Antisocial Personality Disorder is a mental illness which usually manifests itself before the age of fifteen. Major symptoms include antisocial behavior in which there is little concern for the rights of others. Excessive drinking, fighting and irresponsibility may also occur. (For more information on this disorder, choose "Antisocial Personality Disorder" as your search term in the Rare Disease Database). Attention-Deficit Hyperactivity Disorder (ADHD) is a condition usually caused by abnormalities of the central nervous system. It often accompanies neurological disorders such as cerebral palsy, epilepsy, and Tourette syndrome. It may also be caused by a disruptive environment, child abuse or neglect in some cases. ADHD features unusual degrees of inattention, impulsiveness, and physical activity. It usually starts at a young age, half the time before the age of 4. (For more information on these disorders, choose "Attention-Deficit Hyperactivity", "Cerebral Palsy", "epilepsy", or "Tourette Syndrome" as your search term in the Rare Disease Database). The following disorders may be the primary underlying cause of Organic Personality Syndrome. They are not necessary for a differential diagnosis: Huntington's Chorea (also known as Huntington's Disease) is an inherited, progressively degenerative neurological illness leading to personality changes, loss of motor control, loss of memory, and eventual loss of both mental capability. (For more information on this disorder, choose "Huntington's Disease" as your search term in the Rare Disease Database). Temporal Lobe Epilepsy (also known as Psychomotor Epilepsy) is a central nervous system disorder originating in the temporal lobe area of the brain. It is characterized by partial seizures, impairment of consciousness, strange behavior, hallucinations that may involve odor, and visual perceptions. Organic Personality Syndrome may occur between seizures. (For more information on this disorder, choose "Epilepsy" as your search term in the Rare Disease Database). Organic Personality Syndrome may precede the development of dementia. Dementia is a progressive decline of the intellect (rational or intelligent thought) and includes changes in behavior and personality. It may be caused by one of several brain diseases or by injury to the brain. Dementia affects memory and abstract thinking as well as judgement. Sometimes personality change is the first symptom of an organic brain syndrome which eventually becomes dementia, such as Alzheimer's disease. The initial diagnosis is then changed from Organic Personality Syndrome to another disorder. (For more information on disorders characterized by dementia, choose "dementia" as your search term in the Rare Disease Database). Therapies: Standard In Organic Personality Syndrome, although the ability to reason, remember, imagine, and learn may not be affected, the individual's judgement may be so poor that continual supervision may be necessary. Left unattended, his or her behavior could cause difficult or dangerous problems. Treatment of Organic Personality Syndrome depends upon the cause. If it is due to medication or drug abuse, once the cause is identified, corrective action can be taken and the person's behavior usually returns to normal. If it is due to a brain tumor (neoplasm), much depends on the tumor type, the patient's age, tumor location and success of therapy. Surgery may be effective, and in some cases patients recover with little or no permanent change in their intellectual abilities and quality of life. If the Organic Personality Syndrome is due to another underlying neurological disorder, appropriate treatment for that disorder may be helpful. Therapies: Investigational Some research has been done on the effectiveness of certain antidepressant drugs. In the cases tested, patients had Organic Personality Syndrome with no other underlying neurological diseases, combined with depression. Many patients improved on antidepressant drugs and remission occurred in some patients. This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Organic Personality Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Mental Health Association 1021 Prince Street Alexandria, VA 22314 (703) 684-7722 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) References THE DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3rd ed. revised: Janet B. W. Williams, D.S.W., et al., eds.; American Psychiatric Association, 1987. Pp.50-53, 114-116. COGNITIVE OUTCOME AND QUALITY OF LIFE ONE YEAR AFTER SUBARACHNOID HAEMORRHAGE, P. McKenna, et al., Neurosurgery (March 1989, issue 24 (3)). Pp. 361-367. NATIONAL SURVEY OF PATTERNS OF CARE FOR BRAIN-TUMOR PATIENTS, M.S. Mahaley, Jr, et al., J Neurosurg (December 1989, issue 71 (6)). Pp. 826-836. NONPSYCHOTIC INVOLUTIONAL INHIBITED DEPRESSIONS AND PSYCHO-ORGANIC DETERIORATIONS: TREATMENT WITH VILOXAZINE AND PIRACETAM, A. Borromei, et al., Minerva Med (May 1989, issue 80 (5)). Pp. 475-482. PARTIAL SECTION OF THE CORPUS COLLOSUM: FOCAL SIGNS AND THEIR RECOVERY, A. Castro-Caldas, et al., Neurosurgery (September 1989, issue 25 (3)). Pp. 442-447. Organic Personality Syndrome )pagetitle 782: Organic Personality Syndrome 04068.TXT 3Copyright (C) 1986, 1987, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 309: Ornithine Transcarbamylase Deficiency _________________________ ** IMPORTANT ** It is possible that the main title of the article (Ornithine Transcarbamylase Deficiency) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Hyperammonemia Type II OTC Deficiency Ornithine Carbamyl Transferase Deficiency Ornithine Carbamyl Transferase Deficiency Urea Cycle Disorder, OTC Type UCE Information on the following diseases can be found in the Related Disorders section of this report: Urea Cycle Enzyme Disorders, including: Citrullinemia, Argininosuccinic Aciduria, Arginase Deficiency, N-Acetyl Glutamate, Synthetase Deficiency, Carbamyl Phosphate Synthetase Deficiency, Reye Syndrome Organic Acidemia General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ornithine Transcarbamylase Deficiency is a rare inborn error of metabolism and one of six inherited disorders of the urea cycle. The urea cycle is a series of chemical reactions in the liver that break down ammonia into urea. Ammonia is toxic to the body. Urea cycle disorders are caused by deficiencies of certain proteins (enzymes) that act to break down the ammonia into urea which is then eliminated from the body. These enzyme deficiencies cause an abnormal accumulation of ammonia in the blood and body tissues. Symptoms Ornithine Transcarbamylase Deficiency is a rare metabolic disorder characterized by excessive levels of ammonia (hyperammonemia) in the blood and body tissues. Symptoms of this disorder may include lack of appetite, vomiting, drowsiness, seizures, and/or coma. The liver may be abnormally enlarged (hepatomegaly). The diagnosis of Ornithine Transcarbamylase Deficiency is confirmed by a laboratory test that detects an abnormally high level of orotate in the urine. This test distinguishes Ornithine Transcarbamylase Deficiency from other urea cycle enzyme disorders. Citrulline is also absent in the blood. (For more information about Urea Cycles Disorders, see the Related Disorders Section of this report.) Immediate treatment after the diagnosis of Ornithine Transcarbamylase Deficiency is imperative. If left untreated this disorder can be life-threatening and can result in brain damage and coma. Causes Ornithine Transcarbamylase Deficiency is inherited as an X-linked genetic trait. The symptoms of Ornithine Transcarbamylase Deficiency develop due to the accumulation of excess ammonia in blood and body tissues. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Males who have only one of a pair of genes that result in Ornithine Transcarbamylase Deficiency (hemizygotes) have extreme symptoms, whereas females who have two different genes of a pair (heterozygotes) for this disorder have milder symptoms. Approximately one-third of the cases may be due to a new mutation (de novo) in the gene responsible for Ornithine Transcarbamylase Deficiency. Affected Population Ornithine Transcarbamylase Deficiency is a very rare disorder that affects less than 1000 people in the United States. This disorder occurs in approximately 1 in 25,000 births. In males, symptoms typically begin during the first few days of life. Females who carry the defective gene may have symptoms that are mild, or have no symptoms at all. Some women who are carriers of the gene for Ornithine Transcarbamylase Deficiency may not experience abnormally high levels of ammonia (hyperammonemia) until pregnancy or delivery. Related Disorders Symptoms of the following disorders can be similar to those of Ornithine Transcarbamylase Deficiency. Comparisons may be useful for a differential diagnosis: Urea Cycle Enzyme Deficiencies (UCE) are a group of rare inherited metabolic disorders. The six disorders of the urea cycle are Citrullinemia, Argininosuccinic Aciduria, Arginase Deficiency, N-Acetyl Glutamate Synthetase Deficiency, Carbamyl Phosphate Synthetase Deficiency, and Ornithine Transcarbamylase Deficiency. The symptoms of all urea cycle disorders vary in severity and result from the excessive accumulation of ammonia in the blood and body tissues (hyperammonemia). Symptoms include lack of appetite, vomiting, drowsiness, seizures, and/or coma. The liver may be abnormally enlarged (hepatomegaly). (For more information choose "Citrullinemia," "Argininosuccinic Aciduria," "Arginase Deficiency," "N-Acetyl Glutamate Synthetase Deficiency," and "Carbamyl Phosphate Synthetase Deficiency" as your search terms in the Rare Disease Database.) Reye Syndrome is a rare childhood disease characterized by liver failure, abnormal brain function (encephalopathy), abnormally low levels of glucose (hypoglycemia), and high levels of ammonia in the blood. This disorder usually follows a viral infection. It may be triggered by the use of aspirin in children recovering from chicken pox or influenza. Deficiencies of the urea cycle enzymes are thought to play a role in the development of Reye Syndrome. Symptoms include vomiting, diarrhea, rapid breathing, irritability, fatigue, and behavioral changes. Neurological symptoms may be life-threatening and include seizures, stupor, and coma. (For more information on this disorder, choose "Reye" as your search term in the Rare Disease Database.) Organic Acidemias are a group of rare inherited metabolic disorders characterized by the excessive accumulation of various acids in the blood. Symptoms may include constipation, muscle weakness and low levels of platelets in the blood (thrombocytopenia). People with these disorders also have hyperammonemia and experience symptoms that are similar to those of urea cycle enzyme disorders. (For more information, choose "Acidemia" as your search term in the Rare Disease Database.) Therapies: Standard When a person is suspected of having Ornithine Transcarbamylase Deficiency or any other urea cycle disorder, a number of diagnostic tests should be performed. These include measurement of pH of the blood and body tissues to determine if the blood is acidic, the levels of ammonia, amino acids and bicarbonate in the blood, urinary organic acids, and blood gases. Before the results of these tests are in, treatment of hyperammonemia should be started to prevent coma and/or brain damage. As soon as Ornithine Transcarbamylase Deficiency is diagnosed in a male newborn, a procedure that removes the excess ammonia from the blood (hemodialysis) or blood exchange transfusions should be started immediately. If coma is present shortly after birth due to abnormally high levels of ammonia, then a combined treatment needs to be started as soon as possible, which may include hemodialysis. If the carrier status for the Ornithine Transcarbamylase Deficiency gene is known, a test (linkage analysis) can be given that can detect urea cycle enzyme defects in the developing fetus. Also, women who are at risk for these deficiencies may be tested for the presence of the defective gene. The orphan drug benzoate/phenylacetate (Ucephan) has been approved for use in the prevention and treatment of hyperammonemia in patients with urea cycle enzymopathy (UCE) due to enzyme deficiencies. The drug is manufactured by: Kendall McGaw Laboratories, Inc. P.O. Box 25080 Santa Ana, CA 92799-5080 Genetic counseling is imperative for people with Ornithine Transcarbamylase Deficiency and their families. Therapies: Investigational The orphan drug sodium (or calcium) phenylbutyrate is being developed for use in the treatment of hyperammonemia, including those people with Ornithine Transcarbamylase Deficiency. This drug has the advantage of not having the offensive odor that is associated with benzoate/phenylacetate. For more information, patients should have their physicians contact: Dr. Saul Brusilow Professor of Pediatrics 301 Children's Medical and Surgical Center John Hopkins Hospital 600 North Wolfe Street Baltimore, MD 21205 (310) 955-0885 Clinical trials are underway to study the orphan drug L-Carnitine in amino acid and fat metabolism as it relates to urea cycle disorders, including Ornithine Transcarbamylase Deficiency. For more information, have your physician contact: Charles R. Roe, M.D. Box 3028 Duke University Medical Center Durham, NC 27710 (919) 684-2036 A. Kimberly Iafolla, M.D. Duke University Medical Center Durham, NC 27710 (919) 681-6042 In people with Ornithine Transcarbamylase Deficiency that does not respond to drug therapy, liver transplantation may be considered in some cases. More study is needed to determine the long-term safety and effectiveness of this procedure for the most severe cases of Ornithine Transcarbamylase Deficiency. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ornithine Transcarbamylase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Urea Cycle Disorders Foundation 4559 Vauxhall Rd. Richmond, VA 23234-3556 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Saul Brusilow, M.D., Professor of Pediatrics 301 Children's Medical and Surgical Center Johns Hopkins Hospital 600 North Wolfe Street Baltimore, MD 21205 (301) 955-0885 The National Kidney Foundation 30 East 33rd St. New York, NY 10016 (212) 689-2210 (800) 622-9010 British Organic Acidemia Association 5 Saxon Rd. Ashford, Middlesex TW15 1QL England Research Trust for Metabolic Diseases in Children Golden Gates Lodge Weston Road Crewe, CW1 1XN, England Telephone: 0270629782 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1937-1942. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 635-37, 645-46. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1105, 1118. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1307-1308. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 779. DISORDERS OR THE UREA CYCLE: Saul W. Brusilow; Hospital Practice (October 15, 1985; issue 305). Pp. 65-72. SYMPTOMATIC INBORN ERRORS OF METABOLISM IN THE NEONATE: Saul W. Brusilow and David L. Vallee; In: Current Therapy in Neonatal-Perinatal Medicine. Marcel Decker, 1985. Pp. 207-212. PROSPECTIVE TREATMENT OF UREA CYCLE DISORDERS. N.E. Maestri; J Pediatr (Dec 1991; 119(6)). Pp. 923-28. ALLOPURINOL CHALLENGE TEST IN CHILDREN. A.B. Burlina; J Inherit Metab Dis (1992; 15(5)). Pp. 707-712. A CASE STUDY: UREA CYCLE DISORDER. M.M. Gallagher; Neonatal Netw (Sept 1991; 10(2)). Pp. 35-44. Ornithine Transcarbamylase Deficiency 5pagetitle 309: Ornithine Transcarbamylase Deficiency 04069.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 700: Osgood-Schlatter's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Osgood-Schlatter's Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Schlatter Disease Osteochondrosis, Tibial Tubercle Information on the following diseases can be found in the Related Disorders section of this report: Kienboeck Disease Legg-Calve-Perthes Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Osgood-Schlatter's Disease is a nonprogressive, inflammatory condition that causes abnormal bone and cartilage formation in the bone located between the knee and the ankle (tibia). Symptoms Osgood-Schlatter's Disease is characterized by a painful, small, rounded bony growth (tubercle) on the bone located between the knee and the ankle (tibia). The tubercle causes a degeneration of the tissue due to an inadequate blood supply to the area. Symptoms are made worse by any exercise or activity that stretches the leg. Half of those affected with this disease will have symptoms in both legs. Osgood-Schlatter's Disease runs a limited course and the affected area will usually regenerate. Long-term affects are uncommon although there have been some incidences of fractures of the tibia and joint discomfort years after the original diagnosis. Causes The exact cause of Osgood-Schlatter's Disease is unknown. It is thought to result from a trauma or chronic irritation. Overuse of an immature bone or the quadricep muscle may also cause this condition. Affected Population Osgood-Schlatter's Disease occurs more frequently in early adolescent males, especially those who are athletically active. Related Disorders Symptoms of the following disorders can be similar to those of Osgood-Schlatter's Disease: Kienboeck Disease is an acquired bone disorder. Abnormalities of the lunate bone in the wrist develop following an injury or inflammation. Recurrent pain and stiffness occur in conjunction with thickening, swelling and tenderness in the soft tissue overlying the lunate bone. The range of motion in the wrist may become limited. (For more information on this disorder, choose "Kienboeck" as your search term in the Rare Disease Database.) Legg-Calve-Perthes Syndrome is a rare disease affecting the hip joint. Abnormalities in bone growth early in life may result in permanent deformity of the hip joint several years later. (For more information on this disorder, choose "Legg-Calve" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Osgood-Schlatter's Disease consists of complete bed rest and possibly immobilizing the affected leg with a cast. Surgery has been used in some patients with Osgood-Schlatter's Disease. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Osgood-Schlatter's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Arthritis Foundation 1314 Spring St. NW Atlanta, GA 30309 (404) 872-7100 References AVULSION FRACTURE OF THE TIBIAL TUBEROSITY IN LATE ADOLESCENCE. P. Nimityongskul et al.; J TRAUMA (April 1988; issue 28 (4)). Pp. 505-509. MANAGEMENT OF SPORTS INJURIES IN CHILDREN AND ADOLESCENTS. C. Stanitski.; ORTHOP CLIN NORTH AM (October 1988; issue 19 (4)). Pp. 689-698. TIBIAL SEQUESTRECTOMY IN THE MANAGEMENT OF OSGOOD-SCHLATTER DISEASE. I. Trail; J PEDIATR ORTHOP (September-October 1988; issue 8 (5)). Pp. 554-557. BILATERAL FRACTURES THROUGH "GIANT" PATELLAR TENDON OSSICLES: A LATE SEQUELA OF OSGOOD-SCHLATTER DISEASE. R. Konsens, et al.; (August 1988; issue 17 (8)). Pp. 797-800. THE SEQUELAE OF OSGOOD-SCHLATTER'S DISEASE IN ADULTS. J. Hogh, et al.; INT ORTHOP (1988; issue 12 (3)). Pp. 213-215. Osgood-Schlatter's Diseasei pagetitle 700: Osgood-Schlatter's Disease 04070.TXT %Copyright (C) 1984, 1985, 1986, 1987, 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 16: Osteogenesis Imperfecta _________________________ ** IMPORTANT ** It is possible that the main title of the article (Osteogenesis) Imperfecta is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Brittle Bone Disease Ekman-Lobstein Disease Lobstein Disease (Type I) OI Osteopathyrosis Vrolik Disease (Type II) DISORDER SUBDIVISIONS: Osteogenesis Imperfecta Congenita also known as IO Congenita Osteogenesis Imperfecta Tarda also knows as IO Tarda Information on the following diseases can be found in the Related Disorders section of this report: Osteoporosis Vitamin Resistant Rickets Achondroplasia General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Osteogenesis Imperfecta is characterized by unusually fragile bones that break or fracture easily. There are generally considered to be 4 types of this disorder, some with subtypes. The congenital form, type II, is the most severe; affected infants are either stillborn or die shortly after birth of respiratory insufficiency. Other forms of Osteogenesis Imperfecta range from mild to severe. Symptoms Osteogenesis Imperfecta is characterized by bone fractures, especially of the long bones of the legs, even after minimal trauma. Type I Osteogenesis Imperfecta is characterized by blue coloration to the membrane covering the rear portion of the eye (sclera). Generally there is little or no bone deformity and normal stature. There is hearing loss in about 50 percent of type I Osteogenesis Imperfecta patients. Type II Osteogenesis Imperfecta is lethal in the newborn period. Infants are born with multiple fractures as well as compressed fractures. Long bone deformities are generally present. Patients with type III Osteogenesis Imperfecta have short stature and only a variable bluish color to the sclera of the eye. Hearing loss and dental problems are common. Deformities of the bones tends to be progressive. Patients with type IV Osteogenesis Imperfecta have normal sclera in the eyes, mild bone deformity, and variable short stature. Abnormal development of dentin (a major component of the teeth, surrounding the pulp and covered with enamel) is also common (dentinogenesis). Hearing loss is rare. Causes Osteogenesis Imperfecta is commonly inherited as an autosomal dominant gene, but a recessive pattern has been identified in a few patients. More that 50 variants (mutations) in the genes that encode the chains of type I collagen have been identified. The exact nature of the mutation determines the type of Osteogenesis Imperfecta and the symptoms that are present. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Osteogenesis Imperfecta occurs in 1:20,000 to 1:50,000 births in the United States. Related Disorders Symptoms of the following disorders can be similar to Osteogenesis Imperfecta. Comparisons may be useful for a differential diagnosis: Osteoporosis is a disorder of the bones that is characterized by a decrease in the density and weight of bones (rarefaction). This can lead to fractures after even minor trauma. Osteoporosis occurs frequently in post-menopausal women or people that are immobile or sedentary. This disorder may cause pain, especially in the lower back, and a variety of deformities. Vitamin D Deficiency Rickets, which appears during infancy and childhood, is a disorder that is characterized by abnormal bone formation. Vitamin D is needed for the metabolism of calcium and phosphorus, which then affects the depositing of calcium in the bones. The major symptoms include restlessness and a lack of sleep, slow growth and there is a delay in crawling, sitting, or walking. If the disorder remains untreated, the ends of the long bones may become enlarged and the legs may bow. (For more information on this disorder, choose "Rickets, Vitamin D Deficiency" as your search term in the Rare Disease Database). Achondroplasia is a rare inherited disorder that results in short stature (dwarfism) due to the impairment of bone formation. Head and facial abnormalities are also associated with the disorder. Generally the characteristics include an unusually large forehead, short arms and legs, an elongated trunk, and hands that are short and broad. Water on the brain (hydrocephalus) may also be present and the compression of the brain stem may be fatal. (For more information on this disorder, choose "Achondroplasia" as your search term in the Rare Disease Database). Therapies: Standard The treatment for Osteogenesis Imperfecta is symptomatic and supportive. In the past treatments have included diets intended to promote calcium and magnesium deposition to the bone, and hormonal treatments with gonadotropins, growth hormone, and calcitonin. These have proven ineffective, and the latter in particular has had serious side effects on children. Exercise and physical therapy programs have proven of great value in strengthening muscles, increasing weight-bearing capacity, and reducing the tendency to fracture. Hydrotherapy (physical therapy in the water) has been particularly helpful. Various aids are also in use. "Rodding" is a standard procedure in which metal rods are surgically placed in the long bones to prevent fractures. Plastic braces are replacing plaster casts as protective devices because they permit greater freedom of movement and can be used in water. Inflatable suits can provide added protection, especially to very young children. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. Resources For more information on Osteogenesis Imperfecta, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Osteogenesis Imperfecta Foundation 5000 W. Laurel St., Suite 210 Tampa, FL 33607-3836 (813) 282-1161 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Clinic: Dr. Michael P. White, Medical Director Metabolic Research Unit Shriners' Hospital for Crippled Children 2001 Lindbergh Blvd. Saint Louis, MO 63131 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1948, 2104. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1180-1, 1982. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1611-1614. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1124-1125. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1321-1323. OSTEOGENESIS IMPERFECTA, P.H. Byers and R.D. Steiner; Annual Review Medicine (1992; 43): Pp. 269-282. OSTEOGENESIS IMPERFECTA, J.M. Gertner and L. Root; Orthop Clin North America (Jan. 1990; 21(1)): Pp. 151-162.151-162. Osteogenesis Imperfecta &pagetitle 16: Osteogenesis Imperfecta 04071.TXT `.M.Copyright (C) 1989, 1991 National Organization for Rare Disorders, Inc. 742: Osteomyelitis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Osteomyelitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Osteitis Hematogenous Osteomyelitis Disorder Subdivisions: Osteomyelitis, Pyogenic, Acute Osteomyelitis, Pyogenic, Chronic Vertebral Osteomyelitis Anaerobic Osteomyelitis Osteomyelitis due to Vascular Insufficiency Information on the following diseases can be found in the Related Disorders section of this report: Rheumatoid Arthritis Rheumatic Fever Arthritis, Infectious Giant Cell Tumor Cellulitis Amyloidosis Sickle Cell Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Osteomyelitis is a common inflammation of the bone caused by bacteria, frequently Staphylococcus. This disorder is usually due to an infection in another part of the body that is transported through the bloodstream to a bone in a distant location. It can be an acute or chronic condition. Symptoms Acute Osteomyelitis is a serious bone inflammation that can result from a previous trauma, puncture wound, surgery, bone fracture, abscessed tooth, or infection of soft tissue, the ear or sinus. In children, it usually affects the long bones, especially the growth center (epiphysis) at the end of the shaft. In adults, bones of the spinal column (vertebra) are often affected. Initially there may be several days of fever and a generalized feeling of ill health (malaise). This may be followed by an increase in fever (104-105 degrees Fahrenheit), deep localized bone pain, chills, sweating, swelling and painful or limited movement of the nearby joints. The skin near the affected bone may be red (erythema) and there may be a purulent buildup (pus), loss of calcium, destruction of the surrounding tissue (necrosis) and bone deterioration or deformity. Chronic Osteomyelitis usually occurs after an acute episode of Osteomyelitis when the infection has not been totally cured. There may be bone pain, swelling, redness and tenderness of the affected area. A discharge of pus from an opening to the infected bone is often the first symptom. There may also be destruction of the bone with pieces of the infected bone separating from the healthy bone. In cases where this occurs, surgery to remove the bone fragments may be necessary. Vertebral Osteomyelitis is characterized by chronic back pain not relieved by ordinary treatment such as bed rest, heat or pain relievers. There may be fever, localized tenderness, pain, muscle spasms and limited movement. This form of Osteomyelitis usually affects people over 50 years of age, and is usually caused by a previous injury, urinary tract infection, inflammation of the lining of the heart (endocarditis) or drug addiction. (For more information on this disorder, choose "Endocarditis" as your search term in the Rare Disease Database.) Anaerobic Osteomyelitis often affects the lower jawbone (mandible), skull or feet. It is characterized by ulceration and swelling, foul smelling drainage and redness of the affected area. Osteomyelitis due to Vascular Insufficiency is more common in people with Diabetes Mellitus or vascular diseases that affect the extremities, especially the toes and small bones of the feet. It is usually seen in people over 50 years old and is characterized by pain and redness of the affected area (erythema), swelling, ulcerations, and drainage of pus. This type of Osteomyelitis is difficult to treat because of the underlying vascular disorder that can impair the therapeutic effect of antibiotic treatment. (For more information on the above disorder, choose "Diabetes" as your search term in the Rare Disease Database.) Causes Osteomyelitis is an infection frequently caused by Staphylococcus bacteria. In some cases the cause is unknown, but it is usually transmitted through the bloodstream from another area of the body. Affected Population Osteomyelitis is a prevalent condition that affects males and females in equal numbers. It is usually more common in children and adults after the age of 50. Hemodialysis patients, drug addicts and those with diabetes are also more susceptible to this infection. Related Disorders Symptoms of the following disorders can be similar to those of Osteomyelitis. Comparisons may be useful for a differential diagnosis: Rheumatoid Arthritis is an inflammatory autoimmune disease in which the bodies natural defenses against foreign agents (antibodies & lymphocytes) attack healthy bones and joints. This disorder is characterized by a lack of appetite (anorexia), fatigue, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. Once affected, a patient's joints remain painful or uncomfortable for weeks, months, or years. (For more information on this disorder, choose "Arthritis" as your search term in the Rare Disease Database). Rheumatic Fever is an inflammatory infectious disease that can occur following streptococcal infections of the throat (strep throat). Patients initially experience moderate fever, a general feeling of ill health (malaise), a sore throat and fatigue. A toe or finger may become swollen and red, mimicking a local infection. Major complications can include heart disease, joint pain and arthritis, involuntary abrupt limb movements with characteristic grimaces (chorea), and possible skin symptoms. Treatment with antibiotics should begin as soon as possible. Rheumatic Fever can be avoided if strep throat is vigorously treated and cured with antibiotics. (For more information on this disorder, choose ""Rheumatic Fever" as your search term in the Rare Disease Database.) Infectious Arthritis occurs as a result of an infection in the tissues of a joint by bacteria, viruses or fungi. It is characterized by fever, chills, general weakness and headaches, followed by inflammation of one or more joints. The affected joint or joints often become very painful, swollen, slightly red and stiff within a few hours or days. (For more information on this disorder, choose "Arthritis, Infectious" as your search term in the Rare Disease Database.) Cellulitis is a bacterial infection of the skin usually caused by a Staphylococcus or Streptococcus bacteria. The infection commonly results from an existing wound of the nose, ears, face or hands. It is characterized by localized pain, swelling and redness of the skin, fever, chills, enlarged lymph nodes (lymphadenitis) and a general feeling of ill health. Giant Cell tumors can be a recurring condition characterized by tumors of the growth areas (epiphysis) of the long bones. These tumors can cause erosion of the bone and may infiltrate into the surrounding tissue. They are usually treated by surgical removal. Sickle Cell Anemia is an inherited blood disease. Symptomatic of this disease are the painful "crisis periods" which can occur in conjunction with other infections. It is characterized by joint pain (arthralgia), fever, severe abdominal pain, and vomiting. (For more information on this disorder, choose "sickle cell" as your search term in the Rare Disease Database.) People with Osteomyelitis may develop the following disorders if the disease is left untreated or inadequately treated. Secondary Amyloidosis is a metabolic disorder resulting from the extracellular accumulation of amyloid (a glycoprotein) in almost any organ system, in quantities sufficient to cause dysfunction. It can be a secondary disorder associated with Osteomyelitis. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database.) Therapies: Standard Symptoms of Osteomyelitis can resemble many other bone disorders. Bone scans, blood tests or a bone biopsy are tests that help diagnose this disorder so that treatment can be started immediately. After the infectious organism has been identified by a blood, pus or fluid culture, Osteomyelitis is usually treated with massive doses of the appropriate antibiotic. Penicillin type drugs such as Oxacillin, Nafcillin, or Ampicillin, either prescribed alone or in combination with Aminoglycoside drugs (gentaminicin, tobramycin, amikacin, or netilmicin) are effective treatments for certain types of Osteomyelitis. Depending on the extent of the infection, it may be necessary to surgically drain and clean the infected area and then continue treatment with antibiotic therapy. In some cases a bone graft may be necessary. It is most important that diabetics and those with vascular disorders be treated as quickly as possible for suspected Osteomyelitis. If left untreated this disorder can result in destruction of the bone and surrounding tissue and may lead to amputation of the affected toes or foot. Other treatment is symptomatic and supportive. Therapies: Investigational At the present time, a study is being conducted on the effectiveness of polymethyl methacrylate antibiotic beads as a treatment for postoperative Osteomyelitis infections. Another treatment with Gentamicin impregnated with PMMA beads on surgical wire (Septopal) has been developed in Germany by E. Merck, Darmstadt. The FDA has given approval for this orphan drug testing. More research must be conducted to determine long-term safety and effectiveness of these treatments. This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Osteomyelitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1520. THE MERCK MANUAL, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1987. Pp. 1298. POST-TRAUMATIC OSTEOMYELITIS. PATHOPHYSIOLOGY AND MANAGEMENT. M. Roesgen, et al.; ARCH ORTHOP TRAUMA SURG, (1989 issue 108 (1)). Pp. 1-9. ANTIBIOTIC BEADS IN THE MANAGEMENT OF SURGICAL INFECTIONS. J. Calhoun, et al.; AM J SURG (April 1989, issue 157 (4)). Pp. 443-449. ANTIBIOTIC THERAPY OF OSTEOMYELITIS IN OUTPATIENTS. L. Harvey, et al.; MED CLIN NORTH AM, (May 1988, issue 72 (3)). Pp. 723-738. THE DIAGNOSIS OF OSTEOMYELITIS IN PATIENTS WITH PRESSURE SORES. V. Lewis, et al.; PLAST RECONSTR SURG, (February 1988, issue 81 (2)). Pp. 229-232. OSTEOMYELITIS: OPTIONS FOR DIAGNOSIS AND MANAGEMENT. L. Gentry. J ANTIMICROB CHEMOTHER, (April 1988, issue 21 (Suppl C). Pp. 115-131. PRIMARY EPIPHYSEAL OSTEOMYELITIS IN CHILDREN. REPORT OF THREE CASES AND REVIEW OF THE LITERATURE. T. Sorenson, et al.; BONE JOINT SURG (November 1988, issue 70 (5)). Pp. 818-820. Osteomyelitis : Ha/ d/pagetitle 742: Osteomyelitis 04072.TXT ,Copyright (C) 1990, 1992 National Organization for Rare Disorders, Inc. 756: Osteonecrosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Osteonecrosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Avascular Necrosis Information on the following diseases can be found in the Related Disorders section of this report: Vasculitis Osteopetrosis Rheumatoid Arthritis Lupus Erytheomatosus Legg-Calve-Perthes Syndrome Sickle Cell Disease Gaucher's Disease Polycythemia Vera Caisson Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Osteonecrosis is the destruction of a bone (necrosis) often due to an inadequate supply of blood to a bone. It most commonly affects the joints and bones of the hips, knees and shoulder. It often occurs as a result of bone injuries or in conjunction with other diseases and conditions. Symptoms Osteonecrosis is a prevalent slowly progressive prevalent disease frequently caused by a reduction of blood flow to an area that involves bones and joints causing the bones to crack and eventually collapse. This condition usually occurs as the result of other diseases, injuries or conditions. Pain is the primary symptom. It is a chronic and mild pain, usually occurring when standing, walking or lifting. The pain becomes worse when weight bearing activities exert pressure on the bones or joints. The pain may progress, eventually occurring while at rest or even disturbing sleep. Other symptoms include muscle spasms, joint stiffness and limitation of motion. Osteonecrosis most commonly affects the head of the femoral bone but may also involve the head of the humerus bone, the round protruding area at the end of the femur bone (condyles), the shin bone (distal tibia) and ankle (talus). Causes Osteonecrosis is the death of bone tissue associated with various diseases. A common cause is trauma that can cause a dislocation or fracture of the neck of the femur bone. Bones may also be affected by the use of certain drugs such as corticosteroids (glucocorticoids), or radiation and chemotherapy used in treating cancer patients. Osteonecrosis may also be a complication of kidney transplantation, sickle cell disease, alcoholism and other disorders. Affected Population Osteonecrosis is a common progressive disorder that can occur at any age, but is more frequently seen in people between 30 and 60 years of age. Osteonecrosis of the hip is slightly more common in men while Osteonecrosis that affects the knees is seen three times more often in women. It is also more common in those people with rheumatic diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus), steroid users (such as cortisone), alcoholics, diabetics, and skin divers who have experienced a rapid reduction of air pressure (bends). Related Disorders Symptoms of the following disorder may be similar to those of Osteonecrosis. Comparisons may be useful for a differential diagnosis: Osteopetrosis is a combination of several rare genetically caused symptoms grouped together as one disorder. It can be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and in some cases skeletal abnormalities. Although symptoms may not initially be apparent to people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. The dominantly transmitted form is milder than the recessive form and may not be diagnosed until adolescence or adulthood when symptoms first appear. More serious complications occur in the recessive form which may be diagnosed from examination of skeletal x-rays during infancy or childhood. (For more information on this disorder, choose "Osteopetrosis " as your search term in the Rare Disease Database). The following disorders may be associated with the development of Osteonecrosis. They are not necessary for a differential diagnosis: Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls. This inflammation causes a narrowing of the inside of the vessel and can obstruct the flow of blood to the tissues (ischemia). The lack of blood may cause damage to the tissues (necrosis), possible formation of blood clots (thrombosis), or a weakening or ballooning which can possibly cause a rupture of the vessel wall (aneurysm). Osteonecrosis can occur in people with vasculitis when blood flow has been obstructed to the bone or joint. (For more information on this disorder, choose "Vasculitis" as your search term in the Rare Disease Database.) Rheumatoid Arthritis is an inflammatory autoimmune disease in which the body's natural defenses against foreign agents (antibodies & lymphocytes) attack healthy joints. This disorder is characterized by a lack of appetite (anorexia), fatigue, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. People with Arthritis are at increased risk of also developing Osteonecrosis. (For more information on this disorder, choose "Arthritis" as your search term in the Rare Disease Database). Lupus (also known as SLE or Systemic Lupus Erythematosus) is an inflammatory connective tissue disease that can affect many parts of the body including the joints, skin and internal organs. Lupus is a disease of the body's immune system, most often striking young women between the ages of 15 and 35 years. People who have Lupus are also at increased risk of developing Osteonecrosis. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database). Legg-Calve-Perthes Syndrome is a rare disease affecting the hip joint. Abnormalities in bone growth early in life may result in permanent deformity of the hip joint several years later. Osteonecrosis of the femoral head is often seen in those people with Legg-Calve-Perthes Disease. (For more information on his disorder, choose "Legg-Calve-Perthes" as your search term in the Rare Disease Database.) Gaucher's Disease is an inherited disease of lipid metabolism caused by the failure to produce the enzyme glucocerebrosidase. It is the most common of the 14 known lipid storage disorders which includes Tay-Sachs, Fabry's Disease, and Niemann-Pick Disease. There are three types of Gaucher's Disease Type I, II and III. All three are characterized by the presence of Gaucher (lipid-laden) cells in the bone marrow and other organs such as the spleen and liver. Bone deterioration (Osteonecrosis) is a major symptom of this disease and can affect any part of the body. (For more information on this disorder, choose "Gaucher" as your search term in the Rare Disease Database.) Sickle Cell Disease is an inherited blood disease. Symptomatic of this disease are the "crisis periods" which often occur in conjunction with other infections. It is characterized by joint pain (arthralgia), fever, severe abdominal pain, vomiting, and damage to the head of the femur bone (osteonecrosis). (For more information on this disorder, choose "Sickle Cell" as your search term in the Rare Disease Database). Polycythemia Vera is a chronic proliferative disorder of the bone marrow. It is characterized by an increase in the number of red blood cells (erythrocytosis) and hemoglobin concentration in the blood. Osteonecrosis can occur in Polycythemia Vera. (For more information on this disorder, choose "Polycythemia Vera" as your search term in the Rare Disease Database.) Caisson Disease, also called "Decompression Sickness" or the "Bends", is a disorder caused by the formation of nitrogen bubbles in the tissues and blood. This occurs from a very rapid reduction of air pressure after rising quickly from deep water with high atmospheric pressure, to normal air pressure. It is characterized by painful joints, bone deterioration (Osteonecrosis), chest tightness, giddiness, abdominal pain, vomiting and visual difficulties. In some with this disorder there may also be convulsions and paralysis. Therapies: Standard Treatment of Osteonecrosis consists of diagnosing, treating or eliminating the underlying cause. Bones damaged or weakened by this disorder will usually heal and regenerate with appropriate treatment. Limiting or avoiding alcohol, weight bearing activities, standing or walking may help in the recovery process. Bed rest and reducing stress to the affected area are helpful. The pain associated with this disorder can be relieved with aspirin or non-steroidal anti-inflammatory drugs such as ibuprofen. Warm baths, heating pads and electric blankets may also be helpful in relieving the muscle spasms and pain associated with Osteonecrosis. X-Ray's can be helpful in diagnosing Osteonecrosis and determining the extent of bone damage. Surgery may be necessary when there is a dislocation, fracture or if the bone has collapsed. Other treatment is symptomatic and supportive. The most often used method of treatment for advanced Osteonecrosis of either the knee or hip is replacement of the affected area with a prosthetic joint. Therapies: Investigational This disease entry is based upon medical information available through June 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Osteonecrosis, please contact; National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Arthritis Foundation 1314 Spring Street, NW Atlanta, GA 30309 (404) 872-7100 NIH/National Arthritis, Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References TEXTBOOK OF MEDICINE, 18th ED.: James B. Wynngaarden, M.D., et al.; ed.-in-chief; W.B. Saunders Co. 1988. Pp. 1517 OSTEONECROSIS OF THE HIP IN THE SICKLE-CELL DISEASES. TREATMENT AND COMPLICATIONS. G. Hanker, et al.; J BONE SURG [AM] (April 1988, issue 70 (4)). Pp. 499-506. INFLUENCE OF ALCOHOL INTAKE, CIGARETTE SMOKING, AND OCCUPATIONAL STATUS ON IDIOPATHIC OSTEONECROSIS OF THE FEMORAL HEAD. K. Matsuo, et al.; CLIN ORTHOP (September 1988, (234)). Pp. 115-123. OSTEONECROSIS OF THE FEMORAL HEAD. PATHOGENIS AND LONG-TERM RESULTS OF TREATMENT. M. Meyers; CLIN ORTHOP (June 1988 (231)). Pp. 51-61. SURVEY OF THE LONG TERM INCIDENCE OF OSTEONECROSIS OF THE HIP AND ADVERSE MEDICAL EVENTS IN RHEUMATOID ARTHRITIS AFTER HIGH DOSE INTRAVENOUS METHYLPREDNISOLONE. I. Williams, et al.; ANN RHEUM DIS (November 1988, issue 47(11)). Pp. 930-933. Osteonecrosis -pagetitle 756: Osteonecrosis 04073.TXT @&(&Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 354: Osteopetrosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Osteopetrosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Albers-Schonberg Disease Osteosclerosis Fragilis Generalisata Generalized Congenital Osteosclerosis Ivory Bones Marble Bones Information on the following diseases can be found in the Related Disorders section of this report: Melorheistosis Osteopoikilosis Osteogenesis Imperfecta General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Osteopetrosis is a combination of several rare genetically caused symptoms grouped together as one disorder. It can be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. The dominantly transmitted form is milder than the recessive form of Osteopetrosis, and may not be diagnosed until adolescence or adulthood when symptoms first appear. More serious complications occur in the recessive form which may be diagnosed from examination of skeletal x-rays during infancy or childhood. Symptoms Initial symptoms of the dominant form of Osteopetrosis may include bone fractures caused by trivial injuries, and unusual dental problems. Bone pain may occur in the spine, and cranial nerves may be affected. Some vision defects or facial palsy may also be symptomatic of the dominant form of Osteopetrosis. Severe anemia may occur due to obliteration of the bone marrow. A more serious recessive form of Osteopetrosis is present at birth and can be diagnosed by skeletal x-rays. Symptoms may include retardation of growth, enlargement of the head, a deformity of the base of the skull and delayed closure of the soft spot on the skull of infants with this disorder. Vision failure or cataracts, deafness, dental decay, chest deformity and brain damage are also symptomatic of the more severe form of Osteopetrosis. Bone defects may involve increased density of many bones including vertebrae, ribs, long bones, the pelvis and the skull. Concurrently there is a decrease in density of the bone marrow in people affected by this disorder. Causes Osteopetrosis can be inherited as either a dominant or recessive trait. The basic defect in bone growth involves an insufficient production of intercellular bone tissue by cells called osteoblasts. These osteoblasts aid in the production of bone by maintaining a balance between formation and loss of calcium (resorption) in the bone. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Osteopetrosis occurs in children and lasts throughout life. The dominant form (which is milder than the recessive form) may be present in childhood, but not diagnosed until adolescence or adulthood. Both forms of this disorder affect males and females in equal numbers. Osteopetrosis is very rare. Related Disorders Melorheistosis is a rare disorder characterized by shortening or deformity of one or more limbs due to a problem with calcium density in bones. It is inherited as a dominant trait. Pain and limitation of movement of the affected arm(s) or leg(s) is usually present. The prognosis for this disorder is guardedly favorable. Osteopoikilosis, also known as "spotted bones", is a rare disorder which may occur in conjunction with melorheostosis. Usually without apparent symptoms, Osteopoikilosis may be discovered during X-ray examination for other bone growth disorders. Symptoms usually occur most often between the ages of fifteen and sixty. Spotty shadows appear on x-rays of wrist and ankle bones, finger or toe bones, long bones, pelvis, skull, and/or ribs (spinal bones exempted). These spots are less than one centimeter in diameter and usually of uniform density. Bone growth nodules can grow larger or diminish and disappear. Osteogenesis Imperfecta, or "brittle bone disease", is a group of hereditary connective tissue disorders characterized by unusual bone fragility and tendency to fracture. Traditionally the disease has been recognized in two forms. Osteogenesis Imperfecta Congenita is apparent at birth, while Osteogenesis Imperfecta Tarda manifests itself only later, usually at three or four years of age. OI Tarda tends to be a milder form of the disease. Both forms of Osteogenesis Imperfecta affect 1 in 20,000 to 50,000 births in the United States. (For more information on this disorder, choose "osteogenesis imperfecta" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Osteopetrosis is symptomatic and supportive. Physical therapy may be of benefit in some cases. Genetic counseling can be of assistance for families in which this disorder occurs. Therapies: Investigational Experimental treatment of Osteopetrosis includes bone marrow transplantation. Bone marrow is found inside the bone and produces white blood cells, red blood cells, or clotting cells (platelets). The transplant procedure involves extracting cross-matched bone marrow from a healthy donor and injecting it intravenously into a patient. The healthy marrow cells enter the general circulation and migrate through the blood to marrow cavities in the patient's bones. The new marrow cells begin to grow and produce new white blood cells, red blood cells, and platelets. The procedure involves risks which must be balanced against possible benefits, and is used experimentally in the most severe cases of Osteopetrosis. The most serious cases of Osteopetrosis are also being treated experimentally with a combination of steroids (prednisone) and a low calcium, high phosphate diet. Another alternative treatment is the administration of calcitriol, the biologically active form of vitamin D. High doses of this drug, which stimulates bone-resorbing cells called osteoclasts, improved bone turnover in patients on whom it was studied, and it increased formation of blood cells. In one patient disease symptoms were reversed almost completely, but more research is needed to determine long-term safety and effectiveness of the experimental therapies. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Osteopetrosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 The Paget's Disease Foundation, Inc. (and other diseases of bone resorption) 200 Varick St., Suite 1004 New York, NY 10014-4810 (212) 229-1582 (800) 23-PAGET References JUVENILE OSTEOPETROSIS: EFFECTS ON BLOOD AND BONE OF PREDNISONE AND A LOW CALCIUM, HIGH PHOSPHATE DIET: L.M. Dorantes, et. al.; Arch Dis Child (July 1986, issue 61(7)). Pp. 666-670. BONE MARROW TRANSPLANTATION: RESEARCH REPORT; U.S. Dept. of Health and Human Services, National Cancer Institute. (September 1986, NIH publication No. 86-1178). Osteopetrosis s (1A' D'pagetitle 354: Osteopetrosis 04074.TXT 3Copyright (C) 1992 National Organization for Rare Disorders, Inc. 878: Oto-Palato-Digital Syndrome Type I and II _________________________ ** IMPORTANT ** It is possible that the main title of the article (Oto-Palato-Digital Syndrome I and II) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Andre Syndrome Cranioorodigital Syndrome Digito-oto-palatal Syndrome Faciopalatoosseous Syndrome FPO OPD Syndrome OPD II Syndrome Otopalatodigital Syndrome Palato-oto-digital Syndrome Taybi Syndrome Disorder Subdivisions: Oto-Palato-Digital Syndrome Type I (Digito-oto-palatal Syndrome, Palato- oto-digital Syndrome, OPD Syndrome, Taybi Syndrome) Oto-Palato-Digital Syndrome Type II (Digito-oto-palatal Syndrome, Palato- oto-digital Syndrome, Cranioorodigital Syndrome, Otopalatodigital Syndrome, OPD II Syndrome, Faciopalatoosseous Syndrome, FPO, Andre Syndrome) Information on the following diseases can be found in the Related Disorders section of this report: Craniometaphyseal Dysplasia Frontometaphyseal Dysplasia Larsen Syndrome Oro-Facial-Digital Syndrome Osteopetrosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Oto-Palato-Digital Syndrome Type I and II are rare genetic disorders in which complete expression of the disease shows up only in males. Females may be mildly affected with some of the symptoms. Type I OPD is inherited through an X-linked recessive trait with variable expression in females while Type II OPD is inherited through an X-linked semi-dominant trait (see section on causes). OPD Type I is typically a milder disorder with fewer symptoms. Some of the characteristics of both disorders may be: cleft palate, a downward slant of the opening between the upper and lower eyelids, hearing loss, and short fingers and toes. Symptoms Patients with Oto-Palato-Digital Syndrome Type I typically have an incomplete closure of the roof of the mouth (cleft palate), a downward slant of the opening between the upper and lower eyelids, hearing loss due to a defect of the middle ear (conductive hearing loss), and abnormal shortness of the fingers and toes. Other symptoms found in some patients with OPD I may be: short, broad thumbs and great toes; wide spaces between the toes; one or more fingers bent to the side; two or more digits united (syndactyly); short fingernails; dislocation of the head of the radius (one of the bones of the forearm); a broad bridge of the nose; mild dwarfism; underdeveloped bones of the face; and/or slow speech development. Females, who are carriers of the disorder, may have an overhanging brow, a depressed nasal bridge, a wide space between the eyes, and a flat midface. The symptoms expressed in females vary and are fewer. Females do not have the full expression of this disorder. Oto-Palato-Digital Syndrome Type II typically has more symptoms than type I. Major characteristics in males with this disorder may be a small head, broad forehead, flat bridge of the nose, wide space between the eyes, small mouth, cleft palate, downward slant of the opening between the upper and lower eyelids, small mouth, small jaw, fingers that are bent and overlap, short fingers and toes, curved long bones of the forearms and legs and occasionally mental retardation. Females, who are carriers for OPD II, may have mild symptoms such as an arched palate in the mouth, broad face, low-set ears, split uvula (the fleshy lobe in the middle of the back border of the soft palate), fingers bent to the side, short stature, and a downward slant of the opening between the upper and lower eyelids. Females do not have the full expression of this disorder. Causes Oto-Palato-Digital Syndrome Type I is inherited through an X-linked recessive trait with variable expression in females. Females do not have all of the typical symptoms of the disorder. Oto-Palato-Digital Syndrome Type II is inherited through an X-linked semi-dominant trait. Females with OPD II may be mildly affected. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Oto-Palato-Digital Syndrome I and II affects males only. Females may have some of the symptoms but there have been no reported cases of a female having all of the typical characteristics of this disorder. There have been approximately thirty cases of OPD I reported in the medical literature and nine cases of OPD II. Related Disorders Symptoms of the following disorders can be similar to those of Oto-Palato-Digital Syndrome Type I and II. Comparisons may be useful for a differential diagnosis: Craniometaphyseal Dysplasia is a rare genetic disorder that is characterized by head and facial abnormalities, hearing loss and bone deformities of the legs. The nose is abnormally small with narrow nasal passages and the eyes are widely spaced and bulging. The limbs may be affected by a hardening or broadening of the shaft of the long bones close to the growth center. Craniometaphyseal Dysplasia is thought to be inherited as an autosomal dominant trait, but may also be inherited as a recessive genetic trait. (For more information on this disorder, choose "Craniometaphyseal" as your search term in the Rare Disease Database). Frontometaphyseal Dysplasia is a rare genetic disorder characterized by coarse facial features that include a wide nasal bridge, widely spaced eyes, overgrowth of the bone over the eyes, a small jawbone and incomplete development of the sinuses. Multiple deformities of the teeth and bones may also be present. Occasionally mental retardation may occur. Larsen Syndrome is a multi-system genetic disorder that is present at birth. It is characterized by multiple bone dislocations and abnormalities, an extremely high arch of the foot, non-tapering cylindrically shaped fingers, and an unusual facial appearance. In some cases short stature, heart problems, cleft palate or lips, deafness and/or mental retardation may occur. This disorder is inherited through an autosomal dominant or recessive trait. (For more information on this disorder, choose "Larsen" as your search term in the Rare Disease Database). Oro-Facial-Digital Syndrome is a rare genetic disorder in which there have been four types identified. Symptoms common to all types include episodes of neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue, a broad based nose, vertical folds of the skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, shorter than normal fingers and/or toes, and more than the normal number of divisions between skull sections. (For more information on this disorder, choose "Oro-Facial-Digital" as your search term in the Rare Disease Database). Osteopetrosis is a rare genetic bone disorder inherited through an autosomal dominant or autosomal recessive trait. Initial symptoms of the dominant form may include bone fragility leading to easy fractures and unusual dental problems. Bone pain may occur in the spine, and cranial nerves may be affected. Some vision defects or facial palsy may also be symptomatic of the dominant form of Osteopetrosis. (For more information on this disorder choose "Osteopetrosis" as your search term in the Rare Disease Database). Therapies: Standard Patients with cleft palate require the coordination efforts of a team of specialists. Pediatricians, dental specialists, surgeons, speech pathologists and psychologists all must systematically and comprehensively plan the treatment and rehabilitation. The palate may be repaired surgically or covered by an artificial device that closes or blocks the opening. Speech and language development need to be assisted by a speech pathologist during the preschool years. Treatment of hearing loss in Oto-Palato-Digital Syndrome has been limited due to the severity of deformities. Some patients may benefit from surgical repair. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Oto-Palato-Digital Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institutes of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-3643 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Foundation for Facial Reconstruction 550 First Avenue New York, NY 11016 (212) 340-6656 National Cleft Palate Association 1218 Grandview Ave. Pittsburgh, PA 15211 1-800-24CLEFT 1-800-23CLEFT National Hearing Association P.O. Box 8897 Metairie, LA 70011 (504) 888-HEAR For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1582 and 1702. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 232-234. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1340-1342. TEMPORAL BONE FINDINGS IN A CASE OF OTOPALATODIGITAL SYNDROME: S.R. Shi, Arch Otolaryngol (February, 1985, issue 111(2)). Pp. 119-21. Oto-Palato-Digital Syndrome Type I and II 4pagetitle 878: Oto-Palato-Digital Syndrome Type I and II 04075.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 927: Pachydermoperiostosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Pachydermoperiostosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Hypertrophic Osteoarthropathy Pachydermoperiostosis Syndrome Touraine-Solente-Gole Syndrome Disorder Subdivision: Rosenfeld-Kloepfers Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Acromegaly Hypertrophic Pulmonary Osteoarthropathy General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Pachydermoperiostosis is a rare disorder thought to be inherited as an autosomal dominant trait. This disorder typically appears during childhood or adolescence and progresses slowly for about ten years. Symptoms of Pachydermoperiostosis may be enlargement of the fingers and toes (clubbing), a condition in which there is a fibrous covering on the ends of the long bones (periostosis), coarse facial features, increased bulk of the skin on the scalp forming folds, depressions or furrows (cutis verticis gyrata), and/or excessive sweating of the hands and feet. Symptoms Patients with Pachydermoperiostosis typically have coarse facial features with oily, thick, grooving skin on the face. Joint pain, an abnormal enlargement of the tips of the fingers and toes (clubbing), and excessive sweating of the hands and feet (hyperhidrosis) may also be present. New fibrous bone growth (periostosis), especially of the ends of the long bones, is present in patients with Pachydermoperiostosis. A condition in which the skin of the scalp has excess bulk causing depressions or grooves (cutis verticis gyrata) typically becomes apparent during the teen years. Other symptoms found in some patients with Pachydermoperiostosis may be: swelling or pain of the large joints; drooping eyelids (ptosis); a long-term inflammatory skin disease that causes dry or moist, scales and a yellowish crust (seborrheic dermatitis); disorders such as ulcers; and/or swelling of hair follicles related to large open pores of the skin. The symptoms in patients with Pachydermoperiostosis vary in severity with males typically having a more severe form of the disorder. A variant of Pachydermoperiostosis is called Rosenfeld-Kloepfer Syndrome. This form of the disorder is characterized by enlarged bones of the jaw, and very large hands, feet, nose, lips and tongue. Other features of this form of the disorder are: a prominent upper forehead, grooves or depressions in the skin of the scalp (cutis verticis gyrata) and a dense white opacity in the corner of the eye (corneal leukoma). Causes Pachydermoperiostosis is thought to be inherited as an autosomal dominant trait with varying severity. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Pachydermoperiostosis is a rare disorder that affects males more often than females with a ratio of seven to one. This percentage may not be totally valid since females often have mild symptoms with the fibrous bone growth (periostosis) not being detected unless an X-ray is taken. Related Disorders Symptoms of the following disorders can be similar to those of Pachydermoperiostosis. Comparisons may be useful for a differential diagnosis: Acromegaly is a slowly progressive, chronic metabolic disorder in which an excess of growth hormone causes abnormal enlargement of various tissues of the body and unusual height. Most conspicuously affected are the arms, legs, jaws and face. The enlargement of soft tissue, especially of the heart, is a serious feature of this disorder. High blood pressure may be another serious consequence of Acromegaly. (For more information on this disorder choose "Acromegaly" as your search term in the Rare Disease Database). Hypertrophic Pulmonary Osteoarthropathy (Bamberger-Marie Disease) is a rare disorder in which there is expansion of the ends or the entire shaft of the long bones and often abnormal enlargement of the fingers and toes (clubbing). This disorder occurs in chronic pulmonary disease, heart disease and occasionally in other acute and chronic disorders. Therapies: Standard Patients with Pachydermoperiostosis may have improvement in joint pain and swelling when a vagotomy is performed. A vagotomy is a surgical procedure in which certain branches of the vagus nerve (a nerve essential for the functioning of many body parts) are cut along with stomach surgery, to lessen the amount of gastric acid released and thus reduce the chance of getting a gastric ulcer. Plastic surgery may be performed to improve facial appearance. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through August 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pachydermoperiostosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS 9000 Rockville Pike Bethesda, MD 20892 (301) 395-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 702. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 488. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1349-50. Pachydermoperiostosis pagetitle 927: Pachydermoperiostosis 04044.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 822: Neuropathy, Congenital Hypomyelination _________________________ ** IMPORTANT ** It is possible that the main title of the article (Congenital Hypomyelination Neuropathy) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms CHN Congenital Dysmyelinating Neuropathy Congenital Hypomyelinating Polyneuropathy (CHN) Congenital Hypomyelination Congenital Hypomyelination Neuropathy Congenital Hypomyelination (Onion Bulb) Polyneuropathy Congenital Neuropathy caused by Hypomyelination Congenital Neuropathy Early Infantile Neuropathy Infantile Neuropathy Hypomyelination Neuropathy Information on the following disorders can be found in the Related Disorders section of this report: Dejerine-Sottas Disease Guillain-Barre Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Hypomyelination Neuropathy is a neurological disorder present at birth. Major symptoms can include respiratory difficulty, muscle weakness and incoordination, poor muscle tone, absence of reflexes, difficulty in walking, and/or impaired abilities to feel or move part of the body. Symptoms Symptoms of Congenital Hypomyelination Neuropathy and the severity of these symptoms vary from patient to patient. Major symptoms can include delayed motor (muscle) development (ability to turn over, stand, crawl, walk, etc.), muscle weakness, poor muscle tone (hypotonia), impaired muscle coordination, absence of reflexes (areflexia), difficulty in walking or crawling, and/or impaired ability to feel or move part of the body (mild distal palsy). In some infants, respiratory problems or difficulty in swallowing may occur. Abnormal microscopic changes in certain nerves such as sural nerves (located in the calf of the leg) can occur. Causes The exact cause of Congenital Hypomyelination Neuropathy is unknown. The cause of many disorders involving the myelin sheath (the protective sheath surrounding the nerves), such as Multiple Sclerosis, is unknown. A recurrent loss and repair of myelin causes Congenital Hypomyelination Neuropathy. Scientists do not yet know why the myelin disappears, nor do they know why it grows back. Some researchers believe, although this has not yet been established, that Congenital Hypomyelination Neuropathy may be a subtype of Dejerine-Sottas Disease which is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In autosomal dominant disorders, a single abnormal gene, contributed by either parent, overrides the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a 50% chance of inheriting the disorder. (For more information on Dejerine-Sottas Disease, see the Related Disorders section of this report). Other disorders characterized by the loss and repair of the myelin sheath may be autoimmune disorders. In autoimmune disorders the body's defenses against disease (e.g. antibodies or lymphocytes) attack healthy tissue for unknown reasons. Affected Population Congenital Hypomyelination Neuropathy is a rare disorder present at birth. It affects males and females in equal numbers. Related Disorders Dejerine-Sottas Disease is a hereditary neurological disorder which progressively affects muscle function. Peripheral nerves become enlarged and thickened causing an irregular progression of muscle weakness. Pain, weakness, numbness, and a tingling, prickling or burning sensation can occur in the patient's legs. Other symptoms include loss of heat sensitivity, absence of reflexes and atrophy of leg muscles. The hand and forearm muscles may become weak in later stages. Mild vision difficulties may also occur. (For more information on this disorder, choose "Dejerine-Sottas" as your search term in the Rare Disease Database). Guillain-Barre Syndrome (Acute Idiopathic Polyneuritis) occurs when the body's immune system (antibodies, lymphocytes) attacks the nerves, damaging the nerve's myelin and axon. Nerve signals are delayed and altered, causing weakness and paralysis of the muscles of the legs, arms, and other parts of the body along with abnormal sensations. When muscle nerves are damaged, the patient experiences aching and weak muscles, difficulty getting up from chairs or walking stairs, difficulty lifting objects, shortness of breath, and/or difficulty in swallowing. With proper treatment, most patients with Guillain-Barre Syndrome can expect to lead full and active lives. (For more information on this disorder, choose "Guillain" as your search term in the Rare Disease Database). Therapies: Standard Testing for Congenital Hypomyelination Neuropathy may include recording of electrical impulses produced by the muscles (electromyogram), as well as nerve and/or muscle biopsies. Treatment of Congenital Hypomyelination Neuropathy is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Hypomyelination Neuropathy, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL, Volume 1, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp, and Dohme Laboratories, 1987. Pp. 1433-1434. A CASE OF CONGENITAL HYPOMYELINATION NEUROPATHY. CLINICAL, MORPHOLOGICAL, AND CHEMICAL STUDIES. W.R. Kennedy, et al.; Arch Neurol (Jun 1977; issue 34 (6)). Pp. 337-345. CONGENITAL HYPOMYELINATION NEUROPATHY IN A NEWBORN. S. Hakamada, et al.; Neuropediatrics (Aug 1983; issue 14 (3)). Pp. 182-183. CONGENITAL HYPOMYELINATION POLYNEUROPATHY. PATHOLOGICAL FINDINGS COMPARED WITH POLYNEUROPATHIES STARTING LATER IN LIFE. F. Guzzetta, et al.; Brain (Jun 1982; issue 105 (Pt 2)). Pp. 395-416. TWO CASES OF CONGENITAL HYPOMYELINATION NEUROPATHY. N. Tachi, et al.; Brain Dev (1984; issue 6 (6)). Pp. 560-565. Neuropathy, Congenital HypomyelinationU pagetitle 822: Neuropathy, Congenital Hypomyelination 04045.TXT "Copyright (C) 1990 National Organization for Rare Disorders, Inc. 802: Neuropathy, Giant Axonal _________________________ ** IMPORTANT ** It is possible that the main title of the article (Giant Axonal Neuropathy) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms GAN Giant Axonal Neuropathy Axonal Neuropathy, Giant Congenital Giant Axonal Neuropathy Giant Axonal Disease Childhood Giant Axonal Neuropathy Information on the following disorders can be found in the Related Disorders section of this report: Seitelberger Disease Incontinentia Pigmenti General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Giant Axonal Neuropathy is a genetic disorder that first appears during infancy. Major symptoms may include kinky hair, unusual leg posture, poor vision, impaired muscle coordination (ataxia) and weakness, and degenerative mental functioning (dementia). Symptoms Giant Axonal Neuropathy (GAN) may be characterized by symptoms such as loss of sensation in the legs and feet, impaired muscle coordination (ataxia) and weakness, decreased reflexes (hyporeflexia), and poor vision. Other senses such as hearing may also be affected. Mental retardation or seizures may occur. Tightly curled kinky hair, which may be extremely pale, is characteristic of GAN but is not present in all patients. Degenerative mental changes (dementia) may occur as the disorder progresses. Other symptoms may include unusual leg posture, involuntary rapid movements of the eyeball (nystagmus), wasting away of muscles possibly in all four limbs (amyotrophy), muscle twitches (fasciculations), and difficulty in articulation of speech (dysarthria). Giant Axonal Neuropathy is present at birth. Onset of the disorder occurs in infancy or very early childhood and it is slowly progressive. Both the central and peripheral nervous systems are involved. The central nervous system is comprised of the brain and spinal cord, while the peripheral nervous system spreads out from the brain and spinal cord to all other areas of the body. In Giant Axonal Neuropathy, a part of the nerve cell called the axon swells up with abnormal deposits of tiny threads of protein called "neurofilaments." Other filaments, called "intermediate filaments (IFS)", collapse into large clusters in a variety of cells such as nerves, muscles, and connective tissue cells and cells that produce colors (pigments). This causes degeneration and abnormal functioning especially affecting the peripheral nervous system. As the disorder progresses the central nervous system becomes involved. Occurring within the brain and spinal cord is the formation of fibrous deposits known as Rosenthal fibers. The corticospinal tract (the area around the spinal cord where nerve impulses direct the movement of muscles), cerebellum (the area of the brain concerned especially with muscle coordination and balance), and the white matter of the brain become affected. There is a progressive loss of axons within nerve cells as the disorder progresses. Diagnosis can be made by sural nerve biopsy. Causes Giant Axonal Neuropathy is a genetic disorder with an autosomal recessive inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Giant Axonal Neuropathy is a rare disorder present at birth. It affects males and females in equal numbers. Onset of the disorder occurs in infancy or very early childhood. Related Disorders Symptoms of the following disorders can be similar to those of Giant Axonal Neuropathy. Comparisons may be useful for a differential diagnosis: Seitelberger Disease is an inherited central nervous system disorder usually beginning before the age of two years. Children with Seitelberger Disease may experience difficulty in walking and/or speaking. A decreased sensitivity to pain may develop in the legs and trunk. Coordination may become impaired, and decreased muscle tone ("floppiness"), muscle spasms (spasticity) and/or weakening of reflexes may also occur. In later stages, involuntary rapid eye movements, progressive vision problems and seizures can occur. (For more information on this disorder, choose "Seitelberger Disease" as your search term in the Rare Disease Database). Incontinentia Pigmenti is a genetic dermatological disorder characterized by unusual patterns of discolored skin. These discolorations tend to improve with age. Abnormal deposits of normal skin pigment (melanin) cause these discolorations. Other oral, visual and/or neurological symptoms may also occur. Extremely kinky or wooly hair (Wooly hair nevus) and an immune system dysfunction have also been reported in a small number of patients with IP. (For more information on this disorder, choose "Incontinentia Pigmenti" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Giant Axonal Neuropathy is symptomatic and supportive. Genetic counseling will be of benefit for patients and their families. Services for visually and/or mobility impaired people may be of assistance to people with Giant Axonal Neuropathy. Therapies: Investigational This disease entry is based upon medical information available through August 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Giant Axonal Neuropathy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Children's Brain Diseases Foundation for Research 350 Parnassus, Suite 900 San Francisco, CA 94117 (415) 566-5402 (415) 565-6259 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1107. CHILDHOOD GIANT AXONAL NEUROPATHY. CASE REPORT AND REVIEW OF THE LITERATURE. R. Tandan, et al.; J Neurol Sci (Dec 1987; issue 82 (1-3)). Pp. 205-228. CONGENITAL GIANT AXONAL NEUROPATHY. R.B. Kinney, et al,; Arch Pathol Lab Med (Jul 1985; issue 109 (7)). Pp. 639-641. GIANT AXONAL NEUROPATHY: A CONDITIONAL MUTATION AFFECTING CYTOSKELETAL ORGANIZATION. M.W. Klymkowsky, et al.; J Cell Biol (Jan 1985; issue 100 (1)). Pp. 245-250. GIANT AXONAL NEUROPATHY. A REVIEW. R.A. Ouvrier; Brain Dev (1989; issue 11 (4)). Pp. 207-214. GIANT AXONAL NEUROPATHY: CENTRAL ABNORMALITIES DEMONSTRATED BY EVOKED POTENTIALS. A. Majnemer, et al.; Ann Neurol (Apr 1986; issue 19 (4)). Pp. 394-396. GIANT AXONAL NEUROPATHY: CORRELATION OF CLINICAL FINDINGS WITH POSTMORTEM NEUROPATHOLOGY. C. Thomas, et al.; Ann Neurol (Jul 1987; issue 22 (1)). Pp. 79-84. GIANT AXONAL NEUROPATHY: OBSERVATIONS ON A FURTHER PATIENT. M. Donaghy, et al.; J Neurol Neurosurg Psychiatry (Jul 1988; issue 51 (7)). Pp. 991-994. GIANT AXONAL NEUROPATHY WITH INHERITED MULTISYSTEM DEGENERATION IN A TUNISIAN KINDRED. M. Ben Hamida, et al.; Neurology (Feb 1990; issue 40 (2)). Pp. 245-250. Neuropathy, Giant Axonal #pagetitle 802: Neuropathy, Giant Axonal 04046.TXT @ @ Copyright (C) 1991 National Organization for Rare Disorders, Inc. 799: Neuropathy, Hereditary Sensory, Type I _________________________ ** IMPORTANT ** It is possible that the main title of the article (Neuropathy, Hereditary Sensory, Type I) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hereditary Sensory Neuropathy Type I; HSN-I Hereditary Sensory and Autonomic Neuropathy Type I; HSAN-I Sensory Neuropathy, Hereditary, Type I Sensory Radicular Neuropathy Radicular Neuropathy, Sensory Hereditary Sensory Radicular Neuropathy Mutilating Acropathy Acrodystrophic Neuropathy Information on the following disorders can be found in the Related Disorders section of this report: Charcot-Marie-Tooth Disease Hereditary Sensory Neuropathy Type II Peripheral Neuropathy Syringomyelia Roussy-Levy Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hereditary Sensory Neuropathy Type I is a rare genetic disorder. Major symptoms include a loss of sensation usually affecting the feet and legs more severely than the hands and forearms, and perforating ulcers (open sores) on the feet. The loss of sensation is caused by abnormal functioning of the autonomic nervous system, which controls responses to pain and temperature as well as other involuntary or automatic body processes. Symptoms Major symptoms of Hereditary Sensory Neuropathy Type I include loss of sensation usually affecting the feet and legs more severely than the hands and forearms. Pain and temperature sensations are affected more than touch-pressure sensation. Some patients experience piercing or stabbing sensations (lancinating pains). As the disorder progresses the feet may develop perforating ulcers (open sores), especially if patients take poor care of their feet. Reflexes in the legs are decreased or absent. Deafness occasionally occurs. Causes Hereditary Sensory Neuropathy Type I is inherited as an autosomal dominant genetic disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Symptoms of Hereditary Sensory Neuropathy Type I are caused by degeneration of nerve fibers. Diagnosis can be made by biopsy. Affected Population Hereditary Sensory Neuropathy Type I is a rare disorder present at birth affecting males and females in equal numbers. Symptoms usually develop in early adulthood, or occasionally during childhood. Related Disorders Symptoms of the following disorders can be similar to those of Hereditary Sensory Neuropathy Type I. Comparisons may be useful for a differential diagnosis: Charcot-Marie-Tooth Disease is a rare hereditary neurological disorder characterized by muscle atrophy and weakness most prominent in the legs and the small muscles of the hands. A decrease in vibration, pain, and thermal sensation in the hand, foot, and lower part of the leg may occur. Stretch reflexes are usually absent. (For more information on this disorder, choose "Charcot-Marie-Tooth Disease" as your search term in the Rare Disease Database). Hereditary Sensory Neuropathy Type II is a rare genetic disorder characterized by inflammation of the fingers or toes especially around the nails, usually accompanied by pus and infection (paronychia, whitlows) and by ulcers (open sores) of the fingers and on the soles of the feet. Other symptoms are loss of sensation affecting the skin, and sometimes the muscles, tendons, or joints (kinesthetic sensation). Loss of sensation is noticeable in both arms and legs, rather than primarily in the legs as in Hereditary Sensory Neuropathy Type I. (For more information on this disorder, choose "Hereditary Sensory Neuropathy Type II" as your search term in the Rare Disease Database). The symptoms of Peripheral Neuropathy are produced by disease of a single nerve (mononeuropathy, mononeuritis), several nerves in asymmetric areas of the body (mononeuritis multiplex), or many nerves simultaneously (polyneuropathy, polyneuritis, multiple peripheral neuritis). These symptoms may involve sensory, motor, reflex, or blood vessel (vasomotor) function. (For more information on these disorders, choose "neuropathy" as your search term in the Rare Disease Database). Syringomyelia is a rare neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord. Patients with Syringomyelia in the upper (cervical and thoracic) part of the spinal cord may first notice loss of feeling for pain and temperature in their fingers, hands, arms, and upper chest. In the early stages, a sense of touch is still present. A loss of feeling may spread over the shoulders and back. Chronic progressive degeneration of the stress-bearing part of a bone joint (Charcot joint) is another symptom. Reflexes in the upper extremities may be absent. When the lumbar and sacral segments of the spine are affected, spasticity, muscle weakness, and muscular incoordination in the lower extremities as well as paralysis of the bladder usually occur. Morvan disease is a severe form of Syringomyelia accompanied by ulceration of fingers and toes. (For more information on this disorder, choose "Syringomyelia" as your search term in the Rare Disease Database). Roussy-Levy Syndrome is a rare genetic motor sensory disorder. Major symptoms may include a foot deformity (claw foot), muscle weakness, atrophy of the leg muscles and tremor in the hands. (For more information on this disorder, choose "Roussy-Levy" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Hereditary Sensory Neuropathy Type I is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hereditary Sensory Neuropathy Type I, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2264-2265. MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 527. PERSISTENT SKIN ULCERS, MUTILATIONS, AND ACRO-OSTEOLYSIS IN HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH PHOSPHOLIPID EXCRETION. REPORT OF A FAMILY. M. Bockers, et al.; J Am Acad Dermatol (Oct 1989; issue 21 (4 Pt 1)). Pp. 736-739. Neuropathy, Hereditary Sensory, Type IU! X!pagetitle 799: Neuropathy, Hereditary Sensory, Type I 04047.TXT !}!Copyright (C) 1991 National Organization for Rare Disorders, Inc. 798: Neuropathy, Hereditary Sensory, Type II _________________________ ** IMPORTANT ** It is possible that the main title of the article (Neuropathy, Hereditary Sensory, Type II) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Congenital Sensory Neuropathy Hereditary Sensory Neuropathy Type II; HSN-II Hereditary Sensory and Autonomic Neuropathy Type II; HSAN-II Hereditary Sensory Radicular Neuropathy, Recessive Form Sensory Neuropathy, Hereditary, Type II Sensory Radicular Neuropathy, Recessive Form Radicular Neuropathy, Sensory, Recessive Form Information on the following disorders can be found in the Related Disorders section of this report: Charcot-Marie-Tooth Disease Hereditary Sensory Neuropathy Type I Peripheral Neuropathy Syringomyelia Roussy-Levy Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hereditary Sensory Neuropathy Type II is a rare genetic disorder that usually begins in childhood. Major symptoms include inflammation of the fingers or toes especially around the nails, usually accompanied by pus and infection (paronychia, whitlows), ulcers (open sores) of the fingers and on the soles of the feet, and a loss of sensation noticeable in both arms and legs. Symptoms Hereditary Sensory Neuropathy Type II is characterized by inflammation of the fingers or toes especially around the nails, usually accompanied by pus and infection (paronychia, whitlows) and by ulcers (open sores) of the fingers and on the soles of the feet. Other symptoms are loss of sensation affecting the skin, and sometimes the muscles, tendons, or joints (kinesthetic sensation). Loss of feeling in both the arms and legs may cause unsteady movement. In some cases, fractures of the limbs may occur without the patient's awareness. Patients usually have no tendon reflexes. Sweating may be impaired. Some patients with ulcers of the fingers or toes may develop bone complications such as osteomyelitis, or osteolysis. Left untreated, this may lead to loss of the affected finger or toe. Causes Hereditary Sensory Neuropathy Type II is inherited as an autosomal recessive genetic disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Symptoms of Hereditary Sensory Neuropathy Type II are caused by degeneration of nerve fibers. Diagnosis can be made by biopsy. Affected Population Hereditary Sensory Neuropathy Type II is a rare disorder present at birth that affects males and females in equal numbers. Symptoms usually develop during infancy or childhood. Related Disorders Symptoms of the following disorders can be similar to those of Hereditary Sensory Neuropathy Type II. Comparisons may be useful for a differential diagnosis: Charcot-Marie-Tooth Disease is a rare hereditary neurological disorder characterized by muscle atrophy and weakness most prominent in the legs and the small muscles of the hands. A decrease in vibration, pain, and thermal sensation in the hand, foot, and lower part of the leg may occur. Stretch reflexes are usually absent. (For more information on this disorder, choose "Charcot-Marie-Tooth Disease" as your search term in the Rare Disease Database). Hereditary Sensory Neuropathy Type I is a rare genetic disorder characterized by a loss of sensation usually affecting the feet and legs more severely than the hands and forearms, and by perforating ulcers (open sores) on the feet. Pain and temperature sensations are affected more than touch-pressure sensation. (For more information on this disorder, choose "Hereditary Sensory Neuropathy Type I" as your search term in the Rare Disease Database). The symptoms of Peripheral Neuropathy are produced by disease of a single nerve (mononeuropathy, mononeuritis), several nerves in asymmetric areas of the body (mononeuritis multiplex), or many nerves simultaneously (polyneuropathy, polyneuritis, multiple peripheral neuritis). These symptoms may involve sensory, motor, reflex, or blood vessel (vasomotor) function. (For more information on these disorders, choose "neuropathy" as your search term in the Rare Disease Database). Syringomyelia is a rare neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord. Patients with Syringomyelia in the upper (cervical and thoracic) part of the spinal cord may first notice loss of feeling for pain and temperature in their fingers, hands, arms, and upper chest. In the early stages, a sense of touch is still present. A loss of feeling may spread over the shoulders and back. Chronic progressive degeneration of the stress-bearing part of a bone joint (Charcot joint) is another symptom. Reflexes in the upper extremities may be absent. When the lumbar and sacral segments of the spine are affected, spasticity, muscle weakness, and muscular incoordination in the lower extremities as well as paralysis of the bladder usually occur. Morvan disease is a severe form of Syringomyelia accompanied by ulceration of fingers and toes. (For more information on this disorder, choose "Syringomyelia" as your search term in the Rare Disease Database). Roussy-Levy Syndrome is a rare genetic motor sensory disorder. Major symptoms may include a foot deformity (claw foot), muscle weakness, atrophy of the leg muscles and tremor in the hands. (For more information on this disorder, choose "Roussy-Levy" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Hereditary Sensory Neuropathy Type II is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hereditary Sensory Neuropathy Type II, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2264-2265. PAUCIFASCICULAR CONGENITAL SENSORY NEUROPATHY IN IDENTICAL TWINS. G.B. Croall, et al., Am J Dis Child (June 1986; issue 140 (6)). Pp. 589-595. PERSISTENT SKIN ULCERS, MUTILATIONS, AND ACRO-OSTEOLYSIS IN HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH PHOSPHOLIPID EXCRETION. REPORT OF A FAMILY. M. Bockers, et al.; J Am Acad Dermatol (Oct 1989; issue 21 (4 Pt 1)). Pp. 736-739.. Neuropathy, Hereditary Sensory, Type II "pagetitle 798: Neuropathy, Hereditary Sensory, Type II 04048.TXT *Copyright (C) 1987, 1989, 1991 National Organization for Rare Disorders, Inc. 246: Neuropathy, Peripheral _________________________ ** IMPORTANT ** It is possible the main title of the article (Peripheral Neuropathy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Peripheral Neuritis Mononeuropathy Mononeuritis Mononeuritis Multiplex Polyneuropathy Polyneuritis Multiple Peripheral Neuritis Ulnar Nerve Palsy Tardy Ulnar Palsy Carpal Tunnel Syndrome Peroneal Nerve Palsy Radial Nerve Palsy, also known as Saturday Night Palsy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Peripheral Neuropathy is a syndrome characterized by sensory, motor, reflex and blood vessel (vasomotor) symptoms. These symptoms can occur singly or in any combination. Symptoms The symptoms of Peripheral neuropathy are produced by disease of a single nerve (mononeuropathy, mononeuritis), several nerves in asymmetric areas of the body (mononeuritis multiplex), or many nerves simultaneously (polyneuropathy, polyneuritis, multiple peripheral neuritis). These symptoms may involve sensory, motor, reflex, or blood vessel (vasomotor) function. Lesions, usually degenerative and rarely accompanied by signs of inflammation, may occur in the nerve roots or peripheral nerves. Mononeuritis or mononeuropathy is characterized by pain, weakness, and abnormal sensations (paresthesias) in the area that is innervated by the affected nerve. In mononeuritis multiplex all the affected nerves may be involved from the outset or become involved progressively. Extensive involvement of many nerves often resembles the symptoms of polyneuropathy. Compression and entrapment neuropathies result from malfunction of a nerve caused by mechanical means. Paralysis around the elbow (ulnar nerve palsy) is caused by trauma or pressure on the nerve in the ulnar groove of the elbow. This can occur as the result of repeated leaning on the elbow or by abnormal bone growth after a childhood fracture ("tardy ulnar palsy"). Unusual sensations and sensory deficits in the 4th and 5th fingers can be accompanied by weakness and atrophy of: 1) the muscle that pulls the thumb to the hand (adductor) 2) a muscle on the lateral side of the 5th finger (abductor) 3) muscles between the bones in the hand adjacent to 4th and 5th fingers. The carpal tunnel syndrome results from compression of the median nerve in the wrist between the tendons of forearm muscles and the carpal ligament in the hand. This compression can produce abnormal sensations in the hand plus pain in the wrist, the palm, or sometimes proximal to the compression site in the forearm. Commonly, patients feel that their hand "falls asleep" often. Carpal tunnel syndrome is relatively common. It may occur in one or both hands and it is seen more often in women. It often occurs in patients with acromegaly, myxedema, rheumatoid arthritis and also in people with occupations that require repeated forceful wrist flexion (e.g. carpenters). Peroneal nerve palsy is caused by compression of the nerve against the lateral side of the fibula in the leg. It is most common in emaciated nonambulatory patients and in thin people who habitually cross their legs. Weakness when bending the foot upward (dorsiflexion) and foot drop may occur. Occasionally, a sensory deficit is found on the dorsal side of the web between the first and second long bones in the foot (metatarsals). Radial nerve palsy ("Saturday night palsy") is caused by compression of the radial nerve in the upper arm (e.g. when the arm is draped over the back of a chair for long periods of time). Symptoms include weakness of wrist and finger stretching (extensor) muscles, wrist drop, and occasionally a sensory loss on the dorsal web between 1st and 2nd metatarsals. The site of local nerve damage can be identified by Tinel's sign, a distal abnormal sensation in the area that is innervated by the nerve when the region over the nerve is tapped. Electrical nerve conduction studies also help to identify the location of the nerve damage. Polyneuropathy is usually bilaterally symmetric, and all nerves (sensory, motor, vasomotor, or a combination) are involved at the same time. There are several forms of polyneuropathy. The most common form is seen with metabolic diseases, diabetes mellitus or malnutrition. This form develops slowly, often over months or years, and often begins with sensory abnormalities in the legs. Peripheral tingling, numbness, burning pain, or deficiencies in perception of joints and vibratory sensation are often prominent. Pain is often worse at night and may be aggravated by touching the affected area or by temperature changes. In severe cases, signs of sensory loss can be demonstrated, characteristically in the area that would be covered by stockings and gloves. The Achilles and other deep tendon reflexes are diminished or absent. Painless ulcers on the fingers and toes or Charcot's joints may be seen when sensory loss is profound. Sensory or joint perception deficits may lead to abnormal posture or gait that simulate a kind of clubfoot. Weakness and atrophy of distal limb muscles and flaccid tone characterize involvement of motor nerve fibers. The autonomic nervous system may be additionally involved, leading to diarrhea at night, bladder and bowel incontinence, impotence, or postural low blood pressure. An exclusively sensory polyneuropathy is sometimes seen in lung cancer originating in the bronchi. This often begins with pain and abnormal sensations and progresses to a loss of all forms of sensation. Causes Peripheral Neuropathy may have many different causes. These include: 1. Mechanical stress such as compression, direct trauma, penetrating injuries, contusions, tearing away of a nerve by fracture, or dislocation of bones can cause mononeuritis and sometimes mononeuritis multiplex. 2. Pressure paralysis usually affects superficial nerves such as ulnar, radial or peroneal, when they are adjacent to bony prominences (e.g. during sound sleep or anesthesia in thin or weakened persons and frequently in alcoholics). It may affect nerves in narrow canals such as in the entrapment neuropathies (e.g., the median nerve in the carpal tunnel syndrome). Pressure paralysis may also result from tumors, bony hyperostosis, use of casts, crutches, or prolonged cramped postures (e.g. while gardening). 3. Violent muscular activity or forcible overextension of a nerve may produce a mechanical neuritis, as may small traumas such as those encountered by engravers through tight gripping of small tools, or by air-hammer operators through excessive vibration. 4. Hemorrhage into a nerve and exposure to cold or to radiation may also cause neuropathy. 5. Vascular or collagen disorders such as polyarteritis nodosa, atherosclerosis, systemic lupus erythematosus, scleroderma, sarcoidosis and rheumatoid arthritis can cause mononeuritis multiplex (for information on these disorders, see those articles in the Rare Disease Database). 6. Volkmann's ischemic paralysis occurs when closing off (occlusion) of a major artery affects nerves with a common blood supply in one limb. Related Disorders Guillain-Barre syndrome (acute idiopathic polyneuritis) occurs when the body's immune system attacks the nerves, damaging the nerves' myelin sheath and sometimes the axon. Nerve signals are delayed and altered, causing weakness and paralysis of the muscles of the legs, arms and other parts of the body along with abnormal sensations. (For more information on Guillain-Barre syndrome, choose Guillain-Barre as your search term in the Rare Disease Database.) Carpal tunnel syndrome resembles the symptoms of cervical nerve 6 root compression due to cervical osteoarthropathy. (For more information on this disorder, choose "Carpal Tunnel" as your search term in the Rare Disease Database.) Therapies: Standard Recovery may be complete or incomplete with sensory, motor or vasomotor residual and, in severe cases, chronic muscular atrophy as well. Specific therapy is directed at the cause such as control of diabetes, administration of vitamins or proper diet, avoiding further mechanical trauma or surgery when tumors or ruptured intervertebral disks are involved. Stitching a nerve together, surgically breaking up adhesions around a nerve (neurolysis), or nerve transplant may be advisable in some traumatic lesions. In peripheral nerve entrapment or compression neuropathy (i.e. carpal tunnel syndrome), splinting or surgical decompression of the ulnar or median nerves is often beneficial. Peroneal and radial compression neuropathies are treated by avoiding pressure on the areas. Recovery is often slow, and physical therapy or splints may help to avoid contractures. Therapies: Investigational Cronnassial is being tried on an experimental basis to treat the cardioneuropathy effects of Chagas Disease and other Peripheral Neuropathies. The drug is under study in the United States but is not commercially available here. Trials are being sponsored in the U.S. by Rorer. The drug is available in other countries including Italy, Austria, Spain, and Argentina. It is manufactured by Fidia in Italy. Fidia Farmaceutici Italiani Industriali e Affini Via Ponte della Fabbrica 3/A 35051 Abano Terme (Padova) Italy 049-810-444 This disease entry is based upon medical information available through November 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Peripheral Neuropathy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1443. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 507.. Neuropathy, Peripheral +pagetitle 246: Neuropathy, Peripheral 04049.TXT 'Copyright (C) 1991 National Organization for Rare Disorders, Inc. 857: Neutropenia, Chronic _________________________ ** IMPORTANT ** It is possible the main title of the article (Chronic Neutropenia Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Disorder Subdivisions: Chronic Benign Neutropenia Chronic Idiopathic Neutropenia Familial Neutropenia Familial Benign Neutropenia Information on the following diseases can be found in the Related Disorders section of this report: Chronic Granulomatous Disease Leukemia Myelofibrosis-Osteosclerosis Vitamin B12 Deficiency General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the Resources section of this report. Chronic Neutropenia is a blood disorder in which bone marrow does not produce white blood cells containing granules called "neutrophils." This disease often makes the patient more susceptible to infections from fungus and bacteria. Chronic Neutropenia may last for months or years. It can affect both children and adults. Symptoms Symptoms of Chronic Neutropenia can vary greatly depending on the level of blood neutrophils in the bone marrow. In general the fewer neutrophils a person has, the more susceptible to infection he is. There are various characteristics that Chronic Neutropenia patients have in common. The lymphocyte (white blood cells formed in the lymphoid tissue), erythrocyte (red blood cells or corpuscles), reticulocyte (young red blood occuring during the active process of blood regeneration), and platelet counts (disks found in the blood containing granules and clear protoplasm) are normal or close to normal. The levels of monocytes (large white blood cells in the circulating blood) and immunoglobulin (vertebrate serum proteins that include all antibodies) are increased or normal. Thus there is no apparent cause for the neutropenia. There may be an increase of the ratio of immature cells to mature cells indicating that the process of forming new blood cells is not in balance with old cells dying off. Fever, enlarged spleen and infection may be present. However, if diagnosed very early, patients may be treated before infections occur. Inflammation of the gums, pneumonia, and lung abscesses are characteristic of Chronic Neutropenia. In rare cases, Chronic Neutropenia may develop into Aplastic Anemia or Leukemia. (For more information on these disorders, choose "Aplastic Anemia" and "Leukemia" as your search terms in the Rare Disease Database.) Subtypes of Chronic Neutropenia include Familial Neutropenia (occurring in more than one member of a family), Chronic Benign Neutropenia, and Familial Benign Neutropenia in children. The adult form of this disorder is referred to as Chronic Idiopathic (of unknown cause) Neutropenia. Causes Chronic Neutropenia occurs due to impaired production of blood cells in the bone marrow. In many cases the cause is unknown. Other patients seem to develop this disorder while taking certain drugs. Some drugs may cause Chronic Neutropenia as a side effect while other drugs cause Neutropenia in a way that is not related to the dosage or duration. Familial Neutropenia and Familial Benign Neutropenia are both thought to be inherited through autosomal dominant traits. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Chronic Benign Neutropenia (in children) usually has no family history, so it does not appear to be genetic. In Chronic Idiopathic Neutropenia the cause is unknown. This form of the disorder is usually found in adults and, in some cases, may have been present in the patient as a child, going undetected until adulthood. Affected Population Chronic Neutropenia is a rare blood disease that affects males and females in equal numbers. Children and adults can both be affected. The most severe cases tend to occur during adulthood. Related Disorders Symptoms of the following disorders can be similar to those of Chronic Neutropenia. Comparisons may be useful for a differential diagnosis. Chronic Granulomatous Disease is a rare blood disorder which affects certain white blood cells (lymphocytes). This disorder is characterized by an inability to resist infection and widespread growth of tumor-like lesions. There is usually a history of pneumonia, inflammation of the lymph glands, and enlargement of the liver and spleen. (For more information on this disorder, choose "Chronic Granulomatous Disease" as your search term in the Rare Disease Database.) Leukemia is a group of malignant blood diseases affecting the white blood cells (leukocytes). These leukocytes play an important part in the body's defenses against infection. Leukemia can affect both children and adults. Symptoms include swollen lymph nodes, enlarged spleen and liver, fever, weight loss, paleness, fatigue, bruising easily, excessive bleeding, and repeated infections. (For more information on this disorder, choose "Leukemia" as your search term in the Rare Disease Database.) Myelofibrosis-Osteosclerosis is a disorder characterized by proliferation of fibrous tissue in the bone marrow causing anemia, weakness, and fatigue due to low levels of red blood cells. Severe pain in the abdomen, bones and joints may occur. (For more information on this disorder, choose "Myelofibrosis" as your search term in the Rare Disease Database.) Vitamin B12 Deficiency is a disorder in which there is a low level of B12 in the blood. This deficiency causes changes in the blood and the central nervous system. Symptoms of this deficiency usually occur years after absorption of Vitamin B12 ceases because the body needs only a small amount, and there is usually a large amount of B12 stored in the liver. Symptoms may include a low red blood cell count (anemia), enlarged spleen and liver, lack of appetite, intermittent constipation and diarrhea, and abdominal pain. The first symptom is usually a burning sensation in the mouth. (For more information on this disorder, choose "Vitamin B12 Deficiency" as your search term in the Rare Disease Database.) Therapies: Standard The infections associated with Chronic Neutropenia are usually managed with antibiotics. Some patients may benefit from glucocorticoids, a group of anti-inflammatory drugs that suppress the immune system. Intravenous immunoglobulin, the protein part of the blood that is rich in antibodies, is usually prescribed to control this disorder. The orphan drug Neupogen has been approved by the FDA for use in the treatment of Chronic Neutropenia. It is manufactured by Amgen, Inc., 1840 Dehaviland Dr., Thousand Oaks, CA, 91320-1789. Genetic counseling may be of benefit for patients and their families in they have the familial type of Chronic Neutropenia. Therapies: Investigational Colony-stimulating factor (a type of drug that stimulates the production of blood cells that enhance the function of mature leukocytes) is being tested. Granulocyte macrophage colony stimulating factor (GM-CSF) is a protein derived from bacteria, yeast, and mammalian cells. It is being developed by Schering Plough and Sandoz Pharmaceuticals under the brand name Leucomax. Plasmapheresis may be of benefit in some cases of Chronic Neutropenia. This procedure is a method for removing unwanted substances (toxins, metabolic substances, and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze long-term effectiveness. More research is needed for use in all but the most severe cases of Chronic Neutropenia. This disease entry is based upon medical information available through July 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Chronic Neutropenia, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 660. INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 974-5. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1173-76. HEMATOLOGY, 4th Ed.: William J. Williams, M.D., et al., Editors; McGraw-Hill, Inc., 1990. Pp. 273, 803, 809-10. Neutropenia, Chronic (pagetitle 857: Neutropenia, Chronic 04050.TXT Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc. 663: Neutropenia, Cyclic _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cyclic Neutropenia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms CN Human Cyclic Neutropenia Periodic Neutropenia Cyclic Hematopoiesis Information on the following diseases can be found in the Related Disorders section of this report: Severe Infections Leukemia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cyclic Neutropenia is a rare blood disorder characterized by an abnormal low number of a type of white blood cells called neutrophils that occur periodically in patients with this disorder. Recurrent infections with fever usually occur as a result of this imbalance in the blood. Symptoms The severe decrease in neutrophils recurs every 15 to 35 days in Cyclic Neutropenia. The cycling period usually remains constant and consistent among patients. Cycling of platelets and immature red blood cells (reticulocytes) may also occur. Abnormal increases of monocytes (a type of white blood cell) and eosinophils (a type of white blood cell) may also occur. Thrombocytopenia, a severe decrease in platelets (clotting factor in the white blood cells) may also be present. Infections usually accompany the cycling neutropenia. Ulcerous, inflammatory diseases of the mouth (aphthous stomatitis) may occur. If the duration of the neutropenia is long, inflammation of the salivary (parotid) gland in the mouth may also occur. Swollen lymph nodes in the neck (cervical adenopathy), skin infections, and dental problems may also be present. Fever, tiredness, and weakness is common. In childhood Cyclic Neutropenia, symptoms begin in infancy or childhood and tend to improve as the patient grows older. Causes Cyclic Neutropenia is usually inherited as an autosomal dominant trait in children; however, it is an acquired disorder in adults and the cause is unknown. Research suggests the cyclic decreases in neutrophils may be due to white blood cells that do not mature properly in the bone marrow. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Cyclic Neutropenia occurs worldwide and affects males and females in equal numbers. In about one-fourth of the cases, a family history of Cyclic Neutropenia can be found. Related Disorders Symptoms of the following disorders can be similar to those of Cyclic Neutropenia. Comparisons may be useful for a differential diagnosis: Neutropenia may occur as a result of severe infections. Fever, tiredness, weakness, headache, muscle pain, and loss of appetite are common symptoms. The factor that distinguishes Cyclic Neutropenia from other types of neutropenia is its regular periodic occurrence. Leukemia is a group of rare malignant cancers affecting children and adults. It is characterized by the increased production and survival of abnormal, immature white blood cells (leukocytes) which eventually interferes with the production and function of normal, mature white blood cells (granulocytes). Platelets (clotting cells of the blood) and red blood cells may also be affected. Symptoms may include swollen lymph nodes, enlarged spleen and liver, fever, weight loss, paleness, fatigue, easy bruising, excessive bleeding (for example, from the nose and gums), and repeated infections. Pain, especially in the joints, and skin disorders may also occur. The exact cause of Leukemia is unknown. (For more information on a rare form Leukemia, choose "Leukemia" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of the infections associated with Cyclic Neutropenia with antibiotics is important. Careful oral and dental care is required. Corticosteroids are drugs commonly used for treating Cyclic Neutropenia. These drugs, such as prednisone and prednisolone, may relieve inflammation and suppress the immune system. The drug lithium carbonate may increase neutrophil production; however, long-term use may lead to complications. This drug should be used with extreme caution. The drug etiocholanolone may be effective in treating Cyclic Neutropenia. Genetic counseling may be of benefit for patients with the inherited form of Cyclic Neutropenia and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Plasmapheresis may be of benefit in some cases of Cyclic Neutropenia. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Cyclic Neutropenia. In other studies, scientists are investigating the use of recombinant growth factor Granulocyte Stimulating Factor (G-CSF) in treatment of Cyclic Neutropenia. Patients treated with G-CSF appear to have a decrease in symptoms, but more research is neeed to determine the long-term safety and effectiveness on patients with Cyclic Neutropenia. This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cyclic Neutropenia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Blood & Lung Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals for the inherited form of Cyclic Neutropenia: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 529. HUMAN CYCLIC NEUTROPENIA: CLINICAL REVIEW AND LONG-TERM FOLLOW-UP OF PATIENTS: D.G. Wright, et al.; Medicine (Baltimore) (January, 1981: issue 60(1)). Pp. 1-13. CYCLIC HEMATOPOIESIS: HUMAN CYCLIC NEUTROPENIA: R.D. Lange; Exp Hematol (July, 1983: issue 11(6)). Pp. 435-451. ADULT-ONSET CYCLIC NEUTROPENIA IS A BENIGN NEOPLASM ASSOCIATED WITH CLONAL PROLIFERATION OF LARGE GRANULAR LYMPHOCYTES: T.P. Loughran, Jr. & W.P. Hammond, 4th; J Exp Med (December 1, 1986: issue 164(6)). Pp. 2089-2094. Neutropenia, Cyclic pagetitle 663: Neutropenia, Cyclic 04051.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 681: Nevoid Basal Cell Carcinoma Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Nevoid Basal Cell Carcinoma Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Basal Cell Nevus Syndrome Hermans-Herzberg Phakomatosis Nevus, Epitheliomatosis Multiplex with Jaw Cysts Information on the following diseases can be found in the Related Disorders section of this report: Malignant Melanoma Basal Cell Carcinoma Squamous Cell Carcinoma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Nevoid Basal Cell Carcinoma Syndrome is a form of cancer, characterized by the appearance of lesions, and the development of multiple cysts and bony formations of the face and head. The lesions may be found on the first layer of the skin (epidermis), or in the mucous membranes of the mouth. The connective tissues, and the nervous and vascular (blood vessel) systems of the body may also be affected. The skin lesions are limited in size, but not in number, and are not usually due to any external causes. Symptoms The symptoms of Nevoid Basal Cell Carcinoma consist of multiple lesions on the neck, face, back and chest. The onset of this disorder is usually not before puberty, with the number of lesions increasing with age. With this disorder there may be swelling of the jaw due to multiple cysts, or a projection of the jaw beyond the forehead (frontal bossing). Late eruption of the teeth in children, abnormal contraction of the toes upon irritation of the soles of the feet (plantar reflexes), and mental retardation may also occur. Vision problems, such as cataracts, and defects in the pigmented vascular coat of the eye from the ora serrata to the optic nerve (coloboma of choroid, optic nerve), are also symptomatic of this disorder. Other characteristics may be irregularities of the vertebrae, bifid (split) ribs, scoliosis (curvature of the spine) and a hardening of some areas of the brain (calcification of falk cerebri). Causes Scientists suspect that there may be a genetic predisposition for Nevoid Basal Cell Carcinoma Syndrome which may be transmitted through autosomal dominant genes. Human traits, including the classic genetic diseases, are a product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. A genetic predisposition to an illness means that some people may carry the defective gene but never get the disorder unless something in the environment triggers the disease process. Affected Population Nevoid Basal Cell Carcinoma Syndrome affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Nevoid Basal Cell Carcinoma. Comparisons may be useful for a differential diagnosis: Malignant Melanoma is a skin cancer that arises from the melanin cells of the upper layer of the skin (epidermis) or from similar cells that can be found in moles (nevi). This type of skin cancer may send down roots into deeper layers of the skin. Some of these microscopic roots can spread (metastasize), causing new tumor growths in vital organs of the body. (For more information on this disorder, choose "Malignant Melanoma" as your search term in the Rare Disease Database.) Basal Cell Carcinoma is a common skin cancer. It may appear as a small, shiny, firm nodule; ulcerated, crusted lesions or flat, scar-like hardened patches that may bleed. This type of skin cancer is difficult to differentiate from psoriasis or localized dermatitis without a biopsy. Squamous Cell Carcinomas usually appear on the sun-exposed areas of the skin, but may occur anywhere on the body. The lesions begin as a small red elevation or patch with a scaly or crusted surface. They may become nodular, sometimes with a warty surface. In some, the bulk of the lesion may lie below the level of the surrounding tissue. A biopsy is essential to diagnose this disorder. Therapies: Standard Treatment of Nevoid Basal Cell Carcinoma Syndrome can sometimes be very difficult due to the location and the great number of lesions or tumors that are symptomatic of this disorder. When surgery has not been totally successful, chemotherapy (drug) treatment is being used. The oral drug, Etrinate, has proven to be effective in treating existing lesions, and inhibiting new tumor formation in many patients. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational At the present time, a study is being conducted on the effectiveness of the oral drug Isotretinoin on the maintenance and prevention of this disorder. More research must be conducted to determine long-term safety and effectiveness of this drug. This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Nevoid Basal Cell Carcinoma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Skin Cancer Foundation 475 Park Avenue South New York, NY 10016 (212) 725-5176 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.90. LONG-TERM RETINOID THERAPY IS NEEDED FOR MAINTENANCE OF CANCER CHEMOPREVENTATIVE EFFECT. G.L. Peck, DERMATOLOGICA, (1987; 175 Suppl (1)), Pp. 138-144. ETRINATE TREATMENT OF THE NEVOID BASAL CELL CARCINOMA SYNDROME. THERAPEUTIC AND CHEMOPREVENTIVE EFFECT. E. Hodak, INT J DERMATOL, (November 1987; 26(9)). Pp. 606-609. AROMATIC RETINOID IN THE CHEMOPREVENTION OF THE PROGRESSION OF NEVOID BASAL-CELL CARCINOMA SYNDROME. M. Cristofolini, J DERMATOL SURG ONCOL, (October 1984; 10(10)). Pp. 778-781.. Nevoid Basal Cell Carcinoma Syndrome !pagetitle 681: Nevoid Basal Cell Carcinoma Syndrome 04052.TXT @$%$Copyright (C) 1986, 1988 National Organization for Rare Disorders, Inc. 75: Nezelof's Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Nezelof's Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cellular immunodeficiency with abnormal immunoglobulin synthesis DISORDER SUBDIVISIONS: Purine nucleoside phosphorylase (PNP) deficiency General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Nezelof's syndrome is a disorder of the immune system. There are two important forms of immunity. The T-cells maintain "cellular" immunity, consisting of protection against many viruses, fungi, and related microorganisms; long-term immunity, such as that developed in response to vaccinations or childhood infections; and allergic reactions. The B-cells represent humoral immunity; they produce antibodies against many bacteria, some viruses, and other pathogens. In Nezelof's syndrome, cellular immunity is impaired; there may be abnormalities of humoral immunity in addition. Affected individuals are unable to ward off or overcome many infections, including infections by organisms that cannot cause illness in persons with intact immune systems (opportunistic infections). Nezelof's syndrome is very rare. It affects both males and females. (A subgroup of about 12 patients has been found in whom a lack the enzyme purine nucleoside phosphorylase (PNP) appears to explain the immunodeficiency.) The prognosis for survival beyond childhood in this disorder is poor unless matched sibling bone marrow transplants are successful. Symptoms Infections are extremely frequent and severe from birth. Among the potentially fatal infections are pulmonary infections, oral candidiasis (thrush), diarrhea, skin infections, septicemia (blood poisoning), urinary tract infections, measles, and cow pox (vaccinia). Pneumonia due to the opportunistic organism Pneumocystis carinii is a characteristic and particularly serious manifestation. Infections may also be caused by such agents as cytomegalovirus, rubeola, pseudomonas, and mycobacteria. Growth retardation and general wasting are evident. Chronic diarrhea is a characteristic problem. Cellular immunity impairment is associated with a lack of hypersensitivity reactions (delayed cutaneous anergy) to appropriate antigens applied to the skin, with an inability to reject foreign tissue grafts, potentially fatal reactions to immunization with live vaccines, and a high incidence of malignant tumors. Related to the inability to reject foreign tissue is the susceptibility to graft-versus-host disease (GVHD). This occurs when the graft contains immunocompetant cells which react against the recipient's tissues, causing fever, skin reactions, gastrointestinal disturbances such as diarrhea, vomiting, intestinal obstruction and malabsorption, and hepatitis. Associated with Nezelof syndrome with PNP deficiency are a progressive neurological deterioration characterized by spastic paralysis of all the limbs, autoimmune hemolytic anemia, and a tendency to bleed subcutaneously because of a deficiency of platelets (thrombocytopenic purpura). Laboratory findings include very few T-cells and consequently, lymphopenia. Other white blood cell counts may be abnormal, too, with reduced numbers of neutrophils and high concentrations of eosinophils. Lymph glands are reduced in size. The thymus gland, where T-cells are produced, is small and histologically abnormal. All classes of antibodies are present, often in normal concentrations. Sometimes, there is a selective IgA deficiency. Substantial elevations of IgE and/or IgD antibodies may also occur. In PNP deficiency, uric acid levels in the blood and urine are very low. Causes Nezelof's syndrome is thought to be hereditary, but it is unclear whether it follows an autosomal or a sex linked mode of transmission. The mechanism of disease is also poorly understood. In PNP deficiency, it is thought that the substrate for PNP accumulates due to the enzyme deficiency, and is preferentially taken up by T-lymphocytes; within these cells, the high concentration of the substrate molecule inhibits DNA synthesis, and thus impairs the cells' functioning. An unidentified dysfunction of the thymus gland is suspected to cause the remaining cases of Nezelof's syndrome. Related Disorders Other immunodeficiency diseases involving cell mediated immunity include acquired immune deficiency syndrome (AIDS), severe combined immunodeficiency, DiGeorge syndrome, Wiscott-Aldrich syndrome, and ataxia-telangiectasia. AIDS in children may have very similar manifestations to Nezelof's syndrome. Analysis of the ratios of the different T-cell subgroups to each other and of the histologic characteristics of the thymus gland may serve to differentiate the two. For more information on the above disorders, choose the following words as your search term in the Rare Disease Database: immunodeficiency, AIDS, SCID, DiGeorge, Wiscott, and ataxia. Therapies: Standard In many cases, only symptomatic treatment of each infection as it arises is possible. Bone marrow transplants from immunologically compatible sibling donors have been successful in several cases. In PNP deficiency, attempts to replace the missing enzyme, or at least to dilute the excess purine bases, using blood transfusions, have met with little success. So has deoxycytitdine therapy, which was based on the possibility that this substance might displace the toxic deoxyguanosine in the cells. Infections must be treated vigorously with antifungal, antibiotic, and supportive measures. P. carinii pneumonia can be particularly difficult to treat; the two drugs usually used are trimethoprim-sulfamethoxazole and the orphan drug pentamidine isethionate. (For more information on treatment, see article on AIDS in the Rare Disease Database.) Cytomegalovirus and generalized herpes simplex infections are preferentially treated with idoxuridine, floxuridine, or cytarabine. Severe Candida and related fungi usually respond to amphotericin B therapy. Patients must be protected as much as possible from infectious agents. They must not be immunized with live viral vaccines. Corticosteroids and immunosuppressant drugs, and removal of the spleen must be avoided. Should blood transfusions be necessary due to accidents or surgery, the blood must be irradiated or "washed" to remove all viable lymphocytes that might cause graft-versus-host disease. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Nezeloff's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Immune Deficiency Foundation 3565 Ellicott Mill Drive, Unit B2 Ellicott City, MD 21043 (800) 296-4433 (410) 461-3127 NIH/National Institute of Allergy and Infectious Disease 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References Immunodeficiency. Buckley, R.H. J Allergy Clin Immunol Dec 1983; 72(6):627-641. Combined immunodeficiency and thymic abnormalities. Webster, A.D. J Clin Pathol (Suppl) 1979; 13:10-14. Metabolic defects in immunodeficiency diseases. Webster, A.D. Clin Exp Immunol 1982 Jul; 49(1):1-10.... Nezelof's SyndromeA% D%pagetitle 75: Nezelof's Syndrome 04053.TXT Copyright (C) 1986, 1988, 1990 National Organization for Rare Disorders, Inc. 93: Niemann-Pick Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Niemann-Pick Disease) is not the name you expected. Please check the SYNONYM listing to find alternate names and disorder subdivisions covered by this article. Synonyms Lipid Histiocytosis Sphingomyelin Lipidosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Niemann-Pick Disease is a rare, familial disorder of lipid metabolism characterized by the accumulation of sphingomyelin and cholesterol in the reticuloendothelial cells. There are at least five different forms of this lipidosis (disorders of cellular lipid metabolism). The forms differ in the level of the enzyme sphingomyelinase; the enzyme is absent in the severe juvenile form of the disease. Symptoms Niemann-Pick Disease most often occurs in infants and children. Symptoms of the disorder may include poor feeding habits, physical and mental deterioration, distention of the abdomen and vomiting. There may be cachexia (general ill health and malnutrition). The liver, spleen and lymph nodes may be enlarged and the patient's skin may have a yellow-brown pigmentation. There may be severe neurological symptoms such as loss of speech, myoclonus, convulsions, and dementia. Occasionally, there may be visual impairment. Neurological disorders are absent in Type B of the disorder. There are several variations of Niemann-Pick Disease and each will be discussed on the following pages. TYPE A NIEMANN-PICK DISEASE The "infantile", or Type A Niemann-Pick Disease is the most common form of the disorder which begins in the first few months of life. Feeding difficulties, gradual loss of early motor skills, and enlargement of the abdominal organs (liver and spleen) are usually present by six months of age. Children have an emaciated look as a result of poor feeding which is accompanied by abdominal distention. The skin may have a brownish-yellow pigmentation, and approximately one-third of these patients have a cherry-red spot in the eye. There is a gradual decline of motor and intellectual function resulting in a degenerative weakness and floppiness of the child. TYPE B NIEMANN-PICK DISEASE The Type B form of Niemann-Pick Disease may occur with abdominal organ enlargement beginning between the ages of six months to one year. There is no central nervous system (brain and spinal cord) involvement in this form of the disorder. Organ involvement progresses slowly. Growth rate is slow and there may be susceptibility to lung infections. TYPE C NIEMANN-PICK DISEASE Type C Niemann-Pick Disease may appear in a child following two or three years of normal development. The disorder may begin with a slow loss of speech as well as other central nervous system skills. Clumsiness and a lack of coordination progresses to seizures and continued degeneration of the central nervous system. TYPE D NIEMANN-PICK DISEASE The Type D form of Niemann-Pick Disease resembles the Type C form of the disorder, but the onset is later. The slower progressive course results in deterioration of mental function in early adult life. Patients with this form of the disease appear to all live in a coastal area of Nova Scotia and share a common ancestry. TYPE E NIEMANN-PICK DISEASE A number of adults who have exhibited some of the same tissue and chemical changes found in children with Niemann-Pick Disease, suggests an adult form of the disorder known as Type E. These patients have a very late onset of the symptoms of the disease. Causes Niemann-Pick disease is inherited as a recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population While Niemann-Pick Disease affects all races, the incidence is greater in families of Jewish ancestry. Therapies: Standard Treatment for patients with Niemann-Pick Disease is supportive and symptomatic. Therapies: Investigational Bone marrow transplantation is being tested as a treatment for Type A Niemann-Pick disease. Bone marrow transplantation is not recommended for patients with relatively advanced neurological symptoms. More research is needed to determine the safety and effectiveness of this procedure. Researchers at the NIH are studying several cholesterol lowering drugs for Types C & D Niemann-Pick Disease. Patients who are interested in participating in this research project should contact: Norman W. Barton, M.D., Ph.D., or Charles Argoff, M.D. Clinical Care Unit Bldg. 10, Room 3D03/NIH 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 This disease entry is based upon medical information available through June 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Niemann-Pick Disease, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Niemann-Pick Type C Foundation 22201 Riverpoint Trail Carrollton, VA 23314 (804) 357-6774 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Dr. Roscoe O. Brady Chief, Developmental and Metabolic Neurology NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-3285 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1011. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1147-9. Niemann-Pick Disease pagetitle 93: Niemann-Pick Disease 04054.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 746: Nocardiosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Nocardiosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lung Nocardiosis Information on the following diseases can be found in the Related Disorders section of this report: Actinomycosis Tuberculosis Pneumonia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Nocardiosis is an infectious pulmonary disease characterized by abscesses in the lungs. These abscesses may extend through the chest wall. The infection is spread through the bloodstream by a microorganism called Nocardia asteroides. Symptoms Most cases of Nocardiosis begin as pulmonary infections which develop into lung abscesses. Symptoms may include chest pain, cough, bloody sputum, sweats, chills, weakness, lack of appetite, weight loss and difficult or labored breathing. Nocardiosis symptoms are similar to those of pneumonia and tuberculosis. The infection may spread through the bloodstream resulting in abscesses in the brain or, less frequently, the kidney, intestines or other organs. Approximately one-third of reported cases develop brain abscesses. Symptoms associated with brain abscesses may include severe headache and focal, sensory and motor disturbances. Skin abscesses occur in approximately one-third of all cases of Nocardiosis, and are usually found scattered across the hand, chest wall and buttocks. In the individual who's immune system is suppressed due to corticosteroid or cytotoxic drugs, ulcerative colitis, malignancy of the lymph system or a variety of other diseases, progression of the disease can be very rapid. Nocardiosis may last from several months to years. It is essential that the infection be diagnosed and differentiated from tuberculosis and pneumonia. Causes Nocardiosis is caused by the organism Nocardia asteroides which is found in the soil. The organism usually enters the body through the lungs, and more rarely through the gastrointestinal tract or the skin. Affected Population Nocardiosis occurs world wide. It is most common in the southern United States, Texas and in Latin American countries. The incidence is greater in older adults and Nocardiosis more commonly affects males than females. Related Disorders Symptoms of the following disorders can be similar to those of Nocardiosis. Comparisons may be useful for a differential diagnosis: Actinomycosis is a chronic infectious disease characterized by draining sinuses. The microorganisms which cause Acitnomycosis are often found on the gums, tonsils and teeth. Actinomycosis most commonly affects adult males. The most common entry into the body for the infecting microorganism is through decayed teeth. Pulmonary or abdominal disease may also occur due to this infection. The infection causes small abscesses which spread to adjoining tissue. The abdominal form of the infection produces symptoms of pain, fever, vomiting, diarrhea or constipation and emaciation. There may be an abdominal mass with signs of intestinal obstruction, and draining pus may develop in the abdominal wall. In the thoracic form of the infection, lung infection may resemble tuberculosis with chest pain, fever and a cough with sputum. Tuberculosis (TB) is an acute or chronic bacterial infection found most commonly in the lungs. The infection is spread like a cold, mainly through airborne droplets breathed into the air by a person infected with TB. In the lungs these tubercules produce breathing impairment, coughing and release of sputum. Tuberculosis may also affect the kidneys, bones, lymph nodes, and membranes surrounding the brain. Initial symptoms include fever, loss of appetite, weight loss, weakness, and dry cough. In later stages, symptoms may include blood in the sputum. (For more information on this disorder, choose "Tuberculosis" as your search term in the Rare Disease Database). Pneumonia is a common bacterial infection of the lungs. Onset is sudden, and usually presents itself as fever and shaking chills. Symptoms may include fever, pain or difficulty in breathing, cough and the production of sputum. Fever rises rapidly, sometimes to 105 degrees F. There may also be nausea, vomiting and a general feeling of ill health. Initially there may be a dry cough that later worsens and produces blood-streaked sputum. (For more information on this disorder, choose "Pneumonia" as your search term in the Rare Disease Database.) Therapies: Standard Nocardia organisms are usually resistant to penicillin. Sulfonamide drugs may be prescribed, and treatment may be continued for several months since most cases respond slowly. Trimethoprim-sulfamethoxazole is often prescribed for immunosuppressed patients. Relapse is common. Other drugs sometimes prescribed are ampicillin, minocycline, cefoxitin, amikacin and erythromycin. Without treatment the disease can be fatal, so proper diagnosis is essential. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Nocardiosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 329-3534 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1766-1767. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 82-83. PLEUROPULMONARY MANIFESTATIONS OF ACTINOMYCOSIS AND NOCARDIOSIS. J.E. Heffner; SEMIN RESPIR INFECT (December, 1988; issue 3 (4)). Pp. 352-361. NOCARDIOSIS: A NEGLECTED CHRONIC LUNG DISEASE IN AFRICA? G.G. Baily et al.; THORAX (November, 1988; issue 43 (11)). Pp. 905-910. PRESUMED INTRAOCULAR NOCARDIOSIS IN A CARDIAC-TRANSPLANT PATIENT. N. Mamalis et al.; ANN OPTHALMOL (July, 1988; issue 20 (7)). Pp. 271-273, 276. Nocardiosis pagetitle 746: Nocardiosis 04055.TXT @$<$Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc. 520: Non-Ketotic Hyperglycinemia _________________________ ** IMPORTANT ** It is possible the main title of the article (Non-Ketotic Hyperglycinemia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Glycinemia, Nonketotic Hyperglycinemia, Nonketotic Information on the following disorders can be found in the Related Disorders section of this report: Acidemias, Methylmalonic Isovaleric Acidemia Glutaricaciduria II Maple Syrup Urine Disease Propionic Acidemias General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Non-Ketotic Hyperglycinemia is a genetic disorder characterized by an error of amino acid metabolism. Large amounts of the amino acid glycine tend to accumulate in body fluids particularly in the cerebrospinal fluid. The metabolic block occurs in the conversion of glycine into smaller molecules. Severe illness usually occurs soon after birth and many patients become mentally retarded and/or develop seizure disorders. Symptoms Non-Ketotic Hyperglycinemia is characterized early in life by severe illness, failure to thrive, low muscle tone (hypotonia), and drowsiness or lethargy. Mental retardation may develop, relatively mild in some cases, but usually severe. Seizures, usually with jerking motions (myoclonus) may also occur. The amount of glycine in blood, urine and cerebrospinal fluid is extremely high. Causes Non-Ketotic Hyperglycinemia is an autosomal recessive hereditary disorder caused by an impairment in the breakdown of the amino acid glycine. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Non-Ketotic Hyperglycinemia is a rare metabolic disorder that affects infants soon after birth. Males and females are affected in equal numbers. Related Disorders Isovaleric Acidemia is a metabolic disease which is characterized by a deficiency of the enzyme isovaleryl CoA dehydrogenase. The disorder may occur in an acute and a chronic intermittent form. In the acute form, vomiting, refusal to eat, and listlessness usually occur. With treatment and a diet low in protein the disorder becomes chronically intermittent and a nearly normal life is possible. Methylmalonic Acidemias are another type of organic acidemia. All organic acidemias are inherited as autosomal recessive traits. Each is caused by an enzymatic defect in the metabolism of one amino acid. Without treatment, this may result in an abnormally high level of acid in the blood and body tissues (metabolic acidosis). In acute cases, drowsiness, coma, and/or seizures may occur. Mental retardation is a long-term consequence. The disorders may be caused either by a deficiency of the enzyme methylmalonyl CoA mutase, methylmalonyl racemase, or of adenosylcobalamin synthetic enzymes. Excretion of methylmalonate (a product of amino acid metabolism) in the urine is abnormally high. (For more information on this disorder, choose "Methylmalonic Acidemia" as your search term in the Rare Disease Database.) Glutaricaciduria II (Glutaric Acidemia II) occurs in two forms during two different stages of life. Both are forms of organic acidemia, a group of metabolic disorders characterized by the presence of excess acid in the blood and urine. Glutaricaciduria IIA (Glutaric Acidemia IIA) is the neonatal onset form of Glutaricaciduria. It is a very rare, sex-linked hereditary disorder characterized by large amounts of glutaric and other acids in blood and urine. Some researchers believe the disorder is caused by a defect in the breakdown of acyl-CoA compounds. Glutaricaciduria IIB (Glutaric Acidemia IIB; Ethylmalonic Adipicaciduria) is the milder adult onset form of the disorder. It is inherited as an autosomal recessive trait. Symptoms may include acidity of the body tissues (metabolic acidosis) and a low blood sugar level (hypoglycemia) without an elevated level of ketones in body tissues (ketosis). Large amounts of glutaric acid in the blood and urine are caused by a deficiency of the enzyme "multiple acyl-CoA dehydrogenase". (For more information on this disorder, choose "Glutaricaciduria II" as your search term in the Rare Disease Database".) Maple Syrup Urine Disease is a hereditary disorder resulting from abnormal metabolism of the four "branched chain" amino acids (protein building blocks), leucine, isoleucine, valine, and alloisoleucine. Without treatment, spasticity alternating with poor muscle tone, convulsions, and sometimes coma characterize the disorder. It derives its name from the odor of the patients' urine and sweat. (For more information on this disorder, choose "Maple Syrup Urine Disease" as your search term in the Rare Disease Database.) Propionic Acidemia is a very rare genetic form of Ketotic Hyperglycinemia. The disorder is characterized by a deficiency of the coenzyme propionyl CoA carboxylase, one of the enzymes necessary in the process of breaking down amino acids. Propionic Acidemia occurs in two forms. One form begins at birth and the other is milder, occurring less frequently, with symptoms starting later during infancy. Without treatment, dehydration, drowsiness, lethargy, vomiting, and in some cases, coma may develop. (For more information on this disorder, choose "Propionic Acidemia as your search term in the Rare Disease Database. Therapies: Standard Strychnine treatment for seizures has been a moderate success in a few cases of Non-Ketotic Hyperglycinemia. The tranquilizer diazepam and sodium benzoate, in combination with choline and folic acid (vitamins of the B complex) can sometimes also be beneficial to treat the seizures occurring in this disorder. Other treatment is symptomatic and supportive. Genetic counseling is recommended for families of children with Non-Ketotic Hyperglycinemia. Therapies: Investigational Research on enzyme replacement therapy is ongoing. It is possible that treatment of Non-Ketotic Hyperglycinemia will be enhanced when scientists learn how to replace or increase enzymes in children affected by enzyme deficiencies. This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on this Non-Ketotic Hyperglycinemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Organic Acidemia Association 522 Lander St. Reno, NV 89512 (703) 322-5542 British Organic Acidemia Association 5 Saxon Rd. Ashford, Middlesex TW15 1QL England National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 561-569. THE EFFECTIVENESS OF BENZOATE IN THE MANAGEMENT OF SEIZURES IN NONKETOTIC HYPERGLICINEMIA: J.A. Wolff, et al.; American Journal Dis Child (June 1986: issue 140(6)). Pp. 596-602. NONKETOTIC HYPERGLYCINEMIA: TREATMENT WITH DIAZEPAM--A COMPETITOR FOR GLYCINE RECEPTORS: R. Matalon, et al.; Pediatrics (April 1983: issue 71(4)). Pp. 581-584. Non-Ketotic Hyperglycinemia se cO% R%pagetitle 520: Non-Ketotic Hyperglycinemia 04056.TXT !Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 412: Noonan Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Noonan Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Female Pseudo-Turner Syndrome Male Turner Syndrome, also known as Turner Syndrome in Males Turner Phenotype with Normal Karyotype Turner-Ullrich Syndrome, also known as Ullrich-Turner Syndrome Information on the following disease can be found in the Related Disorders section of this report: Turner Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" Section of this report. Noonan Syndrome is a genetic disorder that can affect both males and females. The condition is characterized by a lack of sexual development, short stature, possible mental retardation, a webbed neck, skeletal and/or heart defects, and various other inborn deformities. Persons with Noonan Syndrome have normal chromosomes (karyotype is normal), while their physical appearance is different from their peers. Symptoms Persons with Noonan Syndrome can have widely varying symptoms. This disorder is mainly characterized by abnormal development of the reproductive system, short stature and possible mental retardation. Additionally, skeletal deformities may include undue prominence (pectus carinatum) or depression (pectus cavum) of the breastbone, and a deformity of the elbow (cubitus valgus). Persons with Noonan Syndrome usually have curly hair with a low hairline in the back and a webbed neck (pterygium colli). The eyes may be set wide apart (hypertelorism) and the eyelids may droop (ptosis). The midface may not develop in proper proportion to the rest of the face and the ears may be low-set. Narrowing of the pulmonary artery and its valves, a deficiency of blood clotting cells (thrombocytopenia), and accumulation of excess fluid in body tissues (hydrops or dropsy) may also occur. Overdevelopment of the outer layer of the skin (hyperkeratosis), scar tissue (keloid), and pigmented birthmarks (nevus) are occasional dermatological symptoms. The main reproductive system abnormality can vary from completely absent to underdeveloped primary sex organs. In males the testes may be undescended and the appearance of other male sexual characteristics (including pubertal hair) may be delayed. Causes Noonan Syndrome usually is an autosomal dominant hereditary disorder. Some researchers believe it may be inherited in some cases through autosomal recessive genes. There is some evidence that the disorder may be caused by an abnormality in the Y chromosome (the male sex chromosome). Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Noonan Syndrome is estimated to occur in approximately 1 out of 1,000 to 2,500 persons. Because of the wide difference in severity of the symptoms, not all cases of this syndrome are diagnosed properly. Noonan's appears to affect persons whose genetic constitution is male more than genotypic females. Related Disorders Noonan Syndrome and Neurofibromatosis often occur simultaneously in the same patient. (For more information, choose "neurofibromatosis" as your search term in the Rare Disease Database.) Turner Syndrome (Gonadal Dysgenesis, X0) is a genetic disorder affecting persons who have no definite sex identity, but have a female appearance (phenotype). This disorder is characterized by lack of sexual development, small stature, possible mental retardation, a webbed neck, heart defects and various other congenital defects. Persons with Turner's Syndrome have an X0 karyotype; i.e. they have neither the second X chromosome that characterizes females, nor the Y chromosome of males. (For more information on this disorder, choose "Turner" as your search term in the Rare Disease Database.) Therapies: Standard Treatment with the female sex hormone "estradiol", started early in life, may be useful to promote normal growth and maturation of the bones of children with Noonan Syndrome. The orphan drug somatrem (Protropin) (human growth hormone) has been known to increase stature in children with growth hormone deficiencies. (For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database). Genetic counseling will be useful to families of children with Noonan Syndrome. Therapies: Investigational Balloon dilatation during heart catheterization has been known to relieve pulmonary valve stenosis in some cases of this disorder. This treatment may reduce the narrowness of the pulmonary artery where it joins the heart and may reduce blood pressure in the right ventricle while controlling the difference in pressure between the right part of the heart and the pulmonary veins (pulmonary valve gradient). If successful, balloon dilatation may make heart surgery unnecessary. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Noonan Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Noonan Syndrome Support Group 1278 Pine Ave. San Jose, CA 95125 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE19 1BS England 01-678-2984 For genetic information and genetic counseling referrals, please contact: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 References PERCUTANEOUS BALLOON VULVOPLASTY FOR PULMONARY VALVE STENOSIS IN INFANTS AND CHILDREN: I. D. Sullivan, et al.; British Heart Journal (October 1985: issue 54,4). Pp. 435-441. NOONAN SYNDROME: THE CHANGING PHENOTYPE: J.E. Allanson, et al.; American Journal Med Gen (July 1985: issue 21,3). Pp. 507-514. ARGON LASER THERAPY OF VULVAR ANGIOKERATOMA: D.J. Dotters, et al.; Archives Intern Med (November 1986: issue 146,11). Pp. 2233-2234. Noonan Syndrome "pagetitle 412: Noonan Syndrome 04057.TXT &s&Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 568: Norrie Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Norrie Syndrome) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Norrie Disease NDP ND Anderson-Warburg Syndrome Whitnall-Norman Syndrome Fetal Iritis Syndrome Oligophrenia Microphthalmos Atrophia Bulborum Hereditaria Information on the following diseases can be found in the Related Disorders section of this report: Chromosome Thirteen Trisomy Syndrome Retinal Dysplasia Usher Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Norrie Syndrome is a sex linked hereditary disorder which is characterized by blindness at birth. Deafness, diabetes and mental retardation may also occur. The lens of the eye is initially clear but may become covered by cataracts. Shrinking of the eyeball (phthisis bulbi) is usually apparent by the age of ten. Symptoms Norrie Syndrome is characterized by blindness in both eyes at birth. A white membrane (cataract) grows over the lens, followed later by shrinking of the eyeballs (Phthisis bulbi). The front chamber inside the eye is small and the pupil has no light reflex. The iris tends to adhere abnormally to the crystalline lens. A grey membrane or grey-yellow opaque mass with blood vessels is apparent behind the lens. Elongated hair-like attachments (ciliary) are often visible on the opposite side of the pupil. There may be retinal folds, detached retinas and pseudotumor (false tumor) formations inside the eyeball. By the age of ten years shrinking of the eye ball becomes apparent. By the age of fifty the lens is usually completely covered by cataracts. Patients may also have hearing loss, diabetes and/or mental retardation. Causes Norrie Syndrome is inherited as a recessive X-linked trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Affected Population Norrie Syndrome is a rare disease affecting only males. Related Disorders Symptoms of the following disorders can be similar to those of Norrie Syndrome. Comparisons may be useful for a differential diagnosis: Trisomy 13 Syndrome is a genetic disorder. It affects infants who tend to be small at birth. Spells of interrupted breathing (apnea) during early infancy are frequent, and mental retardation is usually severe. Many affected children appear to be deaf. A moderately small head with sloping forehead, wide joints, and openings between the parietal bones of the head are present. The entire eye is usually small and a defect of the iris tissue and faulty development of the retina occur frequently. Cleft lip, cleft palate, or both are present in most cases. The ears are abnormally shaped and unusually low-set. (For more information on this disorder, choose "Trisomy 13" as your search term in the Rare Disease Database). Retinal Dysplasia is a hereditary condition characterized by an elevated retinal fold arising from the optic disc covering the macular area inside the eye, and widening toward the temporal fundus, which may cause blindness. This condition is thought to be inherited. Usher Syndrome is characterized by nerve deafness as well as Retinitis Pigmentosa, a degeneration of the eye's retina leading to progressive loss of vision. The deafness may be complete or mild, and usually does not progress. Retinitis Pigmentosa can begin during childhood or later in life. Studies show that clear central vision may be maintained for many years even while pheripheral vision decreases. In some cases, the hearing and vision problems may be accompanied by mental retardation, psychosis, disturbances in walking related to inner ear problems, or cataracts. (For more information on this disorder, choose "Usher" and "RP" as your search terms in the Rare Disease Database). Therapies: Standard Treatment of Norrie Syndrome involves surgery to reattach the retina when and if it becomes necessary. In the cases of hearing loss the use of hearing aids is often recommended. Agencies providing services for vision and hearing impaired persons may be of benefit. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Norrie Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute (NEI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Eye Research Institute of Retina Foundation 20 Staniford St. Boston, MA 02114 (617) 742-3140 National Federation of the Blind 1800 Johnson Street Baltimore, MD 21230 (301) 659-9314 (800) 638-7518 American Council of the Blind, Inc. (ACB) 1155 - 15th St., NW, Suite 720 Washington, D.C. 20005 (202) 467-5081 (800) 424-8666 American Foundation for the Blind (AFB) 15 W. 16th St. New York, NY 10011 (212) 620-2000 Regional offices: Atlanta, GA (404) 525-2303 Chicago, IL (312) 245-9961 Dallas, TX (214) 352-7222 San Francisco, CA (415) 392-4845 Vision Foundation, Inc. 818 Mt. Auburn Street Watertown, MA 02172 (617) 926-4232 1-800-852-3029 (Inside Massachusetts) National Association for Parents of the Visually Impaired, Inc. P.O. Box 180806 Austin, TX 78718 (512) 459-6651 (For braille or recorded publications contact) National Library Service for the Blind and Physically Handicapped Library of Congress 1291 Taylor Street NW Washington, DC 20542 (202) 287-5100 Retinitis Pigmentosa Foundation Fighting Blindness 1401 Mt. Royal Avenue Baltimore, MD 21217 (800) 638-2300 (301) 225-9400 National Association for Parents of the Visually Impaired (NAPVI) 3329 Northaven Rd. Dallas, TX 75229 (214) 358-1995 National Association for the Visually Handicapped (NAVH) 305 East 24th Street New York, NY 10010 (212) 889-3141 or 3201 Balboa Street San Francisco, CA 94121 (414) 221-3201 American Humane Association P.O. Box 1266 Denver, CO 80201 (For Trained Hearing Dogs) Deafness Research Foundation 55 East 34th Street New York, NY 10016 (212) 684-6556 Deaf Communications Institute (DCI) P.O. Box 247 Fayville, MA 01745 (617) 872-9496 (Voice & TDD) National Information Center on Deafness Gallaudet College Kendall Green Washington, DC 20002 Voice & tdd phone (202) 651-5109 National Association of the Deaf 814 Thayer Avenue Silver Spring, MD 20910 (301) 587-1788 American Society for Deaf Children 814 Thayer Avenue Silver Spring, MD 20910 (301) 585-5400 Voice/TTY For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1449. NORRIE'S DISEASE: M. Warburg, Birth Defects (March, 1971, issue 7 (3)). Pp. 117-124. FALCIFORM FOLD, RETINAL DETACHMENT, AND NORRIE'S DISEASE: H.N. Jacklin, Am J Ophthalmol (July, 1980, issue 90 (1)). Pp. 76-80. NORRIE DISEASE CAUSED BY A GENE DELETION ALLOWING CARRIER DETECTION AND PRENATAL DIAGNOSIS: A. de la Chapelle, et al,; Clin Genet (October, 1985, issue 28 (4)). Pp. 317-320. NORRIE'S DISEASE: A STUDY OF TWO FAMILIES: R.M. Liberfarb, et al.; Ophthalmology (October, 1985, issue 92 (10)). Pp. 1445-1451. Norrie Syndrome 'pagetitle 568: Norrie Syndrome 04058.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 422: Nystagmus, Benign Paroxysmal Positional _________________________ ** IMPORTANT ** It is possible the main title of the article (Benign Paroxysmal Positional Nystagmus) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms BPPN Cupulolithiasis Labyrinthine Positional Nystagmus Paroxysmal Positional Nystagmus Information on the following disorders can be found in the Related Disorders section of this report: Meniere Disease Vestibular Neuronitis of Dix and Hallpike General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Benign Paroxysmal Positional Nystagmus is a disorder of the vestibular system in the middle ear which causes dizziness due to altered function of the semicircular canals, usually the posterior canal. The disorder is paroxysmal because the dizziness takes place without warning, it is positional because the symptoms increase with certain movements of the head or body, and abnormal eye movements or nystagmus accompanies the dizziness. Symptoms Benign Paroxysmal Positional Nystagmus (BPPN) is characterized by episodes of violent dizziness triggered by certain head positions, and often accompanied by nausea, vomiting and impaired muscle coordination (ataxia). Involuntary rhythmic oscillation of the eyes (nystagmus) in a horizontal, vertical or circular direction usually also occurs. The symptoms usually last only a few weeks or months, and may disappear spontaneously. Causes Benign Paroxysmal Positional Nystagmus (BPPN) may be caused by one of several different mechanisms affecting the semicircular canals of the inner ear. These may include spontaneous degeneration of the membranes in the labyrinth of the ear, head injuries, serious middle ear infection, ear surgery, and closing off of the anterior vestibular artery in the inner ear. Affected Population BPPN primarily affects females during middle or late adulthood. Related Disorders Meniere Disease is a disorder characterized by recurrent prostrating attacks of dizziness (vertigo), possible hearing loss and ringing sounds (tinnitus). (For more information on this disorder, choose "meniere" as your search term in the Rare Disease Database.) Vestibular Neuronitis of Dix and Hallpike is a disorder of unknown cause, with abrupt onset during young adulthood and continuing through the fifth decade of life. It is characterized by dizziness, nausea and vomiting. Head movements may make the symptoms more severe. Hearing is usually not impaired. This disorder is often associated with upper respiratory tract infections and fever. Therapies: Standard Patients with BPPN are advised to avoid head movements that could bring on the attacks. Medications can be used to decrease dizziness, to control nausea or vomiting. If the dizziness is caused by bacterial infection in the ear, antibiotics may help. A well-balanced diet is important. Salt, alcohol and caffeine intake should be reduced. Therapies: Investigational A surgical treatment used in some cases of acoustic nerve compression is known as the Jannetta procedure. This type of surgery may be helpful in some cases of BPPN. For more information on this type of experimental surgery, contact: Dr. Margareta Moller Presbyterian University Hospital Room 9402, PUH 230 Lothrup Street Pittsburgh, PA 15213 (412) 624-3376 This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Benign Paroxysmal Positional Nystagmus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 E.A.R. Foundation Attn: Meniere's Network 2000 Church St. Nashville, TN 37236 (615) 329-7808 (Voice & TDD) NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Dizziness and Balance Disorder Association 1015 N.W. 22nd Avenue Portland, OR 97210 (503) 229-7348 References VERTICAL VESTIBULO-OCULAR REFLEX IN PATIENTS WITH BENIGN PAROXYSMAL POSITIONAL NYSTAGMUS: R.W. Baloh, et al.; American Journal Otolaryngol (March-April 1985: issue 6,2). Pp. 75-78. POSTURAL DISTURBANCE IN PATIENTS WITH BENIGN PAROXYSMAL POSITIONAL NYSTAGMUS: F.O. Black, et al.; Annals Otol Rhinol Laryngol (November-December 1984: issue 93,6,1). Pp. 595-599. SURGICAL MANAGEMENT OF TRIGEMINAL NEURALGIA, HEMIFACIAL SPASM, PAROXYSMAL TINNITUS AND NYSTAGMUS BY NEUROVASCULAR DECOMPRESSION: T. Isu, et al.; Hokkaido Igaku Zasshi (November 1983: issue 58,6). Pp. 587-599. Nystagmus, Benign Paroxysmal Positional pagetitle 422: Nystagmus, Benign Paroxysmal Positional 04059.TXT @,9,Copyright (C) 1988, 1989, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 515: Obsessive Compulsive Disorder _________________________ ** IMPORTANT ** It is possible the main title of the article (Obsessive Compulsive Disorder) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Obsessive Compulsive Neurosis Information on the following disorders can be found in the Related Disorders section of this report: Anorexia Nervosa Bulimia Schizophrenia Manic Depression, Bipolar Tourette Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Obsessive Compulsive Disorder is characterized by recurrent habitual obsessive or compulsive thoughts or actions. These obsessions and compulsions may become very distressing and time-consuming. In severe cases they can significantly interfere with a person's normal routine, occupational functioning, usual social activities or relationships with others. Symptoms Obsessive Compulsive Disorder is characterized by recurrent obsessive and compulsive actions. Obsessions are persistent ideas, thoughts, impulses, or images that the patient knows are senseless. Repetitive thoughts usually occur. Examples may include thoughts of violence (e.g., a person feeling repeated impulses to hurt another), contamination (e.g., becoming infected by shaking another person's hand), or doubt (e.g., wondering whether one has performed some act, such as repeatedly going back to check if a door is locked). Attempts are made to ignore or suppress such thoughts or impulses, or to counteract them with some other thought or action. The patient recognizes that the obsessions are the product of his or her own mind, but they are difficult to resist. Compulsions are repetitive, purposeful, and intentional behaviors that are performed either in response to an obsessive thought, according to certain rules, or in a stereotyped fashion. The behavior is designed to neutralize or to prevent discomfort or some dreaded event or situation. However, either the activity is not connected in a realistic way with what it is designed to neutralize or prevent, or it is clearly excessive. Compulsions are usually accompanied by a desire to resist the compulsion (at least initially). The adult affected with this disorder recognizes that his or her behavior is excessive or unreasonable, but a young child may not recognize this. The person does not derive pleasure from carrying out the activity, although it does provide a release of tension. The most common compulsive actions involve excessive hand-washing, repeated counting, checking, and touching. When the person with Obsessive Compulsive Disorder tries to resist a compulsion, there is a sense of mounting tension that can be immediately relieved by yielding to the compulsion. In the course of the illness, after repeated failure at resisting compulsions, the person may give in to them and no longer experience a desire to resist them. Depression and anxiety are commonly associated with this disorder. Frequently patients feel they must avoid situations that trigger obsessive thoughts such as staying away from dirt or contamination. A person with obsessions about unsanitary conditions may avoid public restrooms, shaking hands with strangers, and may take several showers each day. Obsessive Compulsive Disorder may occur in a mild, moderate or a severe form. In rare cases, actions dictated by the compulsions may become the major activity in life which can be severely disabling. The disorder is usually chronic, with waxing and waning of symptoms. Causes The cause of Obsessive Compulsive Disorder is not known. However, there is some evidence that the disorder may be genetic because it tends to occur in more than one member of a family. Several recent studies indicate that patients with this disorder have abnormally fast metabolism in certain areas of the brain. The findings point to the basal ganglia including their component, the caudate nuclei. Affected Population Obsessive Compulsive Disorder usually begins during adolescence or early adulthood. It affects males and females in equal numbers. The mild form of this disorder is relatively common; it is estimated that as many as five million Americans may have this disorder, but only a very small percentage of them are impaired significantly enough to warrant treatment. Related Disorders Symptoms of the following disorders may resemble those of Obsessive Compulsive Disorder. Comparisons may be useful for a differential diagnosis: Anorexia Nervosa is an illness of self-starvation resulting in marked weight loss. It is characterized by a disturbed sense of body image and anxiety about weight gain. Women with this disorder may also experience absence of menstrual periods. The self-starvation is not a true compulsion because the person may wish to resist it only because of its harmful consequences. (For more information, choose "Anorexia Nervosa" as your search term in the Rare Disease Database.) Bulimia is a psychiatric disorder consisting of binge eating, often followed by self-induced vomiting or purges with the use of laxatives and diuretics. The majority of patients are female. Persons with this disorder commonly fear they will be unable to stop eating voluntarily. In a calm, concerned, stable environment, and with supportive psychotherapy, patients can acquire a better self-image and develop more stable eating patterns. (For more information, choose "Bulimia" as your search term in the Rare Disease Database.) Some excessive activities such as aberrant sexual behavior, pathological gambling, alcohol and drug dependence or abuse, may be referred to as "compulsive". However, the activities are not true compulsions because the person derives pleasure from the particular activity, and may wish to resist it only because of harmful secondary consequences. In Schizophrenia, stereotyped behavior is common, but it is usually due to delusions rather than to true compulsions. A person with a true delusion usually has a fixed conviction that cannot be shaken, while a person with an obsession usually recognizes the senselessness of the urge. However, in some cases of Obsessive Compulsive Disorder, there may be bizarre delusions and other symptoms unrelated to the disorder that justify the additional diagnosis of Schizophrenia. Bipolar Manic Depression is a mental illness marked by intense mood swings with possible remissions and recurrences. Depression may be most common and can last at least a full day and perhaps several weeks or longer. Manic symptoms involve hyperactivity and feelings of invincibility, happiness and restlessness. During a major depressive episode, obsessive brooding about potentially unpleasant circumstances, or about possible alternative actions, is common. However, these symptoms are usually not experienced as senseless but as meaningful, although possibly excessive. Therefore, these are not true obsessions. (For more information choose "Bipolar Manic Depression" as your search term in the Rare Disease Database.) Obsessive Compulsive Disorder may be associated with the following disorder as a secondary characteristic. It is not necessary for a differential diagnosis. Tourette Syndrome is a neurological movement disorder which begins in childhood between the ages of 2 and 16. The disorder is characterized by involuntary muscular movements (tics), and uncontrollable vocal sounds. Sometimes inappropriate words and compulsive behaviors may occur. Tourette Syndrome and Obsessive Compulsive Disorder tend to occur in more than one member of the same family. Females in Tourette families tend to get Obsessive-Compulsive Disorder while males tend to get more severe Tourette Syndrome. (For more information, choose "Tourette" as your search term in the Rare Disease Database.) Therapies: Standard Standard treatment of Obsessive Compulsive Disorder consists in a combination of antidepressant medication and psychotherapy. The tricyclic antidepressant drug Anafranil (clomipramine) has been approved for treatment of Obsessive Compulsive Disorder. Studies indicate that a small number of patients (approximately seven per 1,000) may get an increased risk of seizures as a side effect of Anafranil, so the medication must be closely monitored by a physician. For most OCD patients, Anafranil controls the symptoms with few side effects. Therapies: Investigational Clinical trials of the drug Fluoxetine for Obsessive Compulsive Disorder are underway. For more information, physicians can contact: Eli Lilly & Company Lilly Corporate Center Indianapolis, IN 46285 (317) 261-2000 Intravenous use of Clomipramine (Anafranil) is under study for the treatment of OCD persons who have serious side effects to the oral form of the medication. Clinical trials are under way on the drug Sertraline for treating OCD in children and adolescents. This disease entry is based upon medical information available through July 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Obsessive Compulsive Disorder, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Obsessive-Compulsive Disorder Foundation P.O. Box 9573 New Haven, CT 06535 (203) 772-0565 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 National Mental Health Association 1021 Prince Street Alexandria, VA 22314 Tourette Syndrome Association 42-40 Bell Blvd. Bayside, NY 11361 (718) 224-2999 (800) 237-0717 References WORLDWIDE USE OF CLOMIPRAMINE. M.R. Trimble, J Clin Psychiatry, (August, 1990, issue 51 (51-4), Discussion 55-58. TREATMENT OF OBSESSIVE COMPULSIVE DISORDER: PSYCHOTHERAPIES, DRUGS, AND OTHER SOMATIC TREATMENT. J.H. Greist, J Clin Psychiatry, (August, 1990, issue 44-50), Discussion 55-58. OBSESSIVE-COMPULSIVE DISORDER., J.S. March, et al.; Am Fam Physician, (May, 1989, issue 39 (5)). Pp. 175-182. Obsessive Compulsive Disorder T-pagetitle 515: Obsessive Compulsive Disorder 04028.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 462: Myelitis _________________________ ** IMPORTANT ** It is possible the main title of the article (Myelitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Myelopathy DISORDER SUBDIVISIONS Acute Transverse Myelitis Ascending Myelitis Brown-Sequard Syndrome Concussion Myelitis Foix-Alajouanine Myelitis (Subacute Necrotizing Myelitis) Funicular Myelitis Systemic Myelitis Transverse Myelitis Information on the following diseases can be found in the Related Disorders section of this report: Spinal Stenosis Cervical Spondylosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Myelitis is a disorder of the spine marked by inflammation of the spinal cord. When inflammation is very limited, the condition may be called a "myelopathy". Injury to the spine, benign tissue growths, or blood vessel abnormalities may also cause this disorder. Major symptoms may initially include pain, followed by gradual paralysis and/or other central nervous system disturbances. Symptoms Myelitis is characterized by inflammation of segments of the spinal cord which can cause local back pain, usually followed by gradual spinal cord dysfunction. These symptoms are often accompanied by muscle spasms, a general feeling of discomfort, backache, headache, loss of appetite (anorexia), numbness or tingling of legs. Eventually, loss of sensation may be severe, associated with sensorimotor paralysis below the level of the lesion, urinary retention, and loss of sexual function and/or bowel (sphincter) control. Myelitis patients exhibit thick, rough, dry skin below the spinal lesion, and tendon reflexes may be lost. The upper spinal (thoracic) area is often involved, causing abdominal paralysis. Eventually, there may be slight improvement depending on the cause. Myelitis can be an acute or chronic disease. Ascending Myelitis is marked by progression of paralysis and loss of sensation over time. In Transverse Myelitis, congestion or obstruction of blood vessels, swelling, cellular infiltration or loss, and loss of the fatty tissue around the nerves (demyelination) may be seen on examining the involved segment of the spinal cord. Disseminated Myelitis is characterized by more than one spinal cord lesion. Brown-Sequard Syndrome involves spinal cord compression and lesions associated with inflammation, injury, presence of foreign bodies, or Meningovascular Syphilis. Only half of the spinal cord is involved. Causes Although the cause of Myelitis is not known in many cases, it can be caused by viral infections, spinal cord injuries, immune reactions, or insufficient blood flow through the blood vessels in the spinal cord. It can occur as a complication of loss of nerve sheath tissue (demyelination) particularly in Optic Neuromyelitis or Multiple Sclerosis. It can also be a complication of reactions to Smallpox, Measles, or Chickenpox vaccinations. Myelitis can be a symptom of Neurovascular Syphilis or Acute Encephalomyelitis (inflammation of the brain and spinal cord). (For more information on any of these disorders, choose the appropriate name as your search term in the Rare Disease Database). Affected Population Myelitis can begin at any time of life. It affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Myelitis. Comparisons may be useful for a differential diagnosis: Spinal Stenosis is an uncommon form of Sciatica (disease of the sciatic nerve roots) which is characterized by severe pain in the lower back extending to the buttocks, thighs or calves. This pain is especially noticeable when walking, running or climbing stairs. Some limping or lameness may develop. Spinal Stenosis is often associated with spinal disk abnormalities usually following other illnesses or injuries. Pain may be somewhat relieved by resting, or in more severe cases surgery may be necessary. This disorder usually occurs in middle-aged or elderly persons. (For more information on this disorder, choose "Spinal Stenosis" as your search term in the Rare Disease Database). Cervical Spondylosis is a degenerative spinal disease in which disk spaces collapse followed by thickening of ligaments and bony over-development leading to nerve root compression and narrowing of the spinal canal. Intermittent neck pain may spread to the shoulders and arms, possibly limiting motion. Therapies: Standard Corticosteroid drugs may be helpful treatment for spinal cord inflammation in Myelitis patients. Surgery may be necessary in some cases. Other treatment is symptomatic and supportive. Therapies: Investigational Experimental electric stimulation treatment is under investigation for treating some cases of Myelitis. The multiprogrammable spinal cord stimulator involves epidural spinal electrostimulation (ESES). This is an experimental medical device under evaluation for control of motor dysfunction. This device can be surgically implanted in the spine and may be of therapeutic benefit to patients with some types of Myelitis or Myelopathy as well as other neuromuscular disorders that do not respond to more conventional therapies. The goal is to increase the range of mobility while alleviating muscle spasms and pain. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Myelitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Paraplegia Society 432 Park Avenue South New York, NY 10016 (212) 686-6770 American Spinal Injury Association 250 E. Superior Street Room 619 Chicago, IL 60611 (312) 649-3425 Spinal Cord Society 2410 Lakeview Drive Fergus Falls, MN 56537 Spinal Cord Injury Hotline 2201 Argonne Drive Baltimore, MD 21218 24-Hour-Hotline 1-800-526-3456 In Maryland, 1-800-638-1733 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References ACUTE TRANSVERSE MYELOPATHY IN CHILDHOOD: K. Dunne, et al.; Dev Med Child Neurol (April 1986, issue 28(2)). Pp. 198-204. RECURRENT TRANSVERSE MYELITIS ASSOCIATED WITH COLLAGEN DISEASE: M Yamamato; J Neurol (June 1986, issue 233(3)). Pp. 185-187. EVOKED POTENTIALS IN ACUTE TRANSVERSE MYELOPATHY: C.H. Wulff; Dan Med Bull (October 1985, issue 32(5)). Pp. 282-286. Myelitis pagetitle 462: Myelitis 04029.TXT Copyright (C) 1986, 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 244: Myelofibrosis-Osteosclerosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Myelofibrosis-Osteosclerosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms MOS Myelofibrosis Myelofibrosis and Myeloid Metaplasia Leukoerythroblastic Anemia Agnogenic Myeloid Metaplasia Aleukemic Myelosis Osteosclerosis Myeloid Megakaryocytic Hepatosplenomegaly General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Myelofibrosis-Osteosclerosis (MOS) is a disorder characterized by proliferation of fibrous tissue in the bone marrow, causing anemia, weakness and fatigue due to replacement of normal bone marrow cells. Episodes of severe pain in the abdomen, the bones and joints also may occur. Symptoms Myelofibrosis-Osteosclerosis is characterized by the symptoms of anemia (a decrease of red blood cells) such as weakness, fatigue, dizziness, and headache. Affected persons may have ringing noises in their ears (tinnitus), see spots before their eyes, and suffer from drowsiness, irritability and sometimes bizarre behavior. Absence of menstruation in females, lack of sex drive, gastrointestinal (stomach and bowels) complaints, and jaundice may also occur. An enlarged spleen (splenomegaly) is usually present, and an associated enlarged liver (hepatomegaly) is common. Abdominal discomfort caused by pressure from the enlarged spleen may be the first complaint. Episodes of severe pain in the abdomen, the bones and joints are characteristic of this disorder. Causes A cause of Myelofibrosis which has a clinical picture similar to Agnogenic Myeloid Metaplasia is the spread of cancer (metastasis) to bone marrow from primary tumors. These tumors most often originate in the breast, prostate, kidney, lung, or adrenal or thyroid gland. In children a rare cause of MOS is marble-bone disease of Albers-Schonberg. Myelofibrosis-Osteosclerosis (MOS) may be a connective tissue reaction to several types of injury resulting in bone marrow tissue death. A secondary type of MOS is frequently associated with tuberculosis and with exposure to toxic substances, such as benzene, fluoride or phosphorus. Affected Population MOS affects persons of both sexes usually during mid-adult life. Children are rarely affected. Therapies: Standard Therapy for Myelofibrosis-Osteosclerosis involves treating the underlying disorder. In cases where the cause is not known, treatment is symptomatic and supportive. Blood transfusions are prescribed if the anemia produces cardiovascular symptoms. In primary myelofibrosis, moderate success has been obtained using male hormones (androgens) and/or corticosteroids in an attempt to increase red blood cell production or decrease their destruction. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Myelofibrosis-Osteosclerosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Myeloproliferative Research Center, Inc. 2220 Tiemann Ave. Baychester, NY 10469 (718) 231-0270 (800) MPD-HELP American Cancer Society 1599 Clifton RD., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1142-3. Myelofibrosis-Osteosclerosis pagetitle 244: Myelofibrosis-Osteosclerosis 04030.TXT pagetitle 566: Myeloma, Multiple (Copyright (C) 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 566: Myeloma, Multiple _________________________ ** IMPORTANT ** It is possible that the main title of the article (Multiple Myeloma) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Plasma Cell Myeloma Myelomatosis Kahler Disease DISORDER SUBDIVISIONS Smoldering Myeloma Plasma Cell Leukemia Nonsecretory Myeloma Osteosclerotic Myeloma Solitary Plasmacytoma of Bone Extramedullary Plasmacytoma Information on the following diseases can be found in the Related Disorders section of this report: Waldenstrom Macroglobulinemia Heavy Chain Disease Primary Amyloidosis Smoldering Myeloma Plasma Cell Leukemia NonSecretory Myeloma Osteosclerotic Myeloma Solitary Plasmacytoma of Bone Extramedullary Plasmacytoma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Multiple Myeloma is a rare form of bone marrow cancer. Major symptoms may include pain in the bones of the back or chest, weakness, fatigue, anemia and kidney problems. Symptoms Multiple Myeloma starts with pains in the bones of the chest or back which are triggered by movement of the body. Weakness, fatigue, anemia, kidney problems, and/or compressed nerves in the spine may also be present. Paleness of the skin is a common physical finding and there is increased susceptibility to bacterial infections, particularly pneumonia. Sometimes the liver and spleen become enlarged. Causes The exact cause of Multiple Myeloma is not known. Scientists suspect there may be a variety of causes such as the effects of radiation, asbestos, industrial or agricultural toxins, hereditary disposition or viruses. Multiple Myeloma is characterized by excessive new growth (neoplastic proliferation) of the plasma cells in bone marrow. It is initially found in the bones of the spine, skull, rib cage, pelvis or legs. The blood shows an increase in levels of certain immune system cells (suppressor T cells) and abnormally low levels of helper T cells. Affected Population Multiple Myeloma patients account for 1% of all types of cancer and 10% of all blood malignancies. It is found in men twice as often as women. It usually occurs between the fourth and seventh decades of life. Related Disorders Symptoms of the following disorders can be similar to those of Multiple Myeloma. Comparisons may be useful for a differential diagnosis: Amyloidosis refers to a group of diseases characterized by extracellular depositions of a protein-like material (amyloid), in one or more sites of the body. Amyloid deposits, in large amounts, can cause a wide variety of organ abnormalities. The organ can take on a firm, rubbery consistency and have a waxy, pink or gray appearance. Organ enlargement (especially of the liver, kidney, spleen, or heart) may be prominent. (for more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database). Waldenstrom Macroglobulinemia is a lymph and blood cell disorder. Abnormally large quantities of homogeneous protein molecules are present in the blood. The disorder tends to run in families and occurs mainly among older men. An enlarged spleen and liver with abnormalities of the lymph glands are the most frequent symptoms. Weakness, anemia, fatigue and excessive bleeding, especially from the nose and mouth, also occur. (For more information on this disorder, choose "Waldenstrom " as your search term in the Rare Disease Database). Heavy Chain Diseases are characterized by the presence of too many plasma cells, or lymphocytes that resemble plasma cells, in the bone marrow and lymph nodes. This condition includes Gamma, Alpha and Mu Heavy Chain Disease, which are all disorders of the proliferative type. Gamma Heavy Chain Disease is characterized by a deletion of amino acids and anemia. The liver, spleen and lymph nodes are enlarged. Alpha Heavy-Chain Disease occurs most often in men of Mediterranean ancestry. It involves the digestive tract with severe malabsorption of nutrients, loss of weight, diarrhea, and loss of fat (steatorrhea). Symptoms are most often progressive. Mu Heavy-Chain Disease is typified by a form of chronic lymphocytic leukemia or tumors of the lymph gland. Analysis of the blood serum usually reveals excessively low levels of antibodies in the blood (gammaglobulinemia). The following disorders may be associated with Multiple Myeloma as secondary characteristics. They are not necessary for a differential diagnosis: Smoldering Myeloma is characterized by abnormally high levels of atypical plasma cells in the bone marrow without evidence of symptomatic disease. Many patients excrete protein in the urine but have no other evidence of either anemia, bone lesions or kidney failure. Plasma Cell Leukemia is characterized by the presence of excessive amounts of plasma cells in the blood. Most patients initially have leukemia and approximately thirty percent already have well-documented cases of Multiple Myeloma. Non-Secretory Myeloma exists when a patient with Multiple Myeloma does not produce M protein in either the urine or blood serum. Osteosclerotic Myeloma patients usually have five percent or less of the normal amounts of plasma cells in their blood. One or more osteosclerotic lesions are present and lytic lesions develop in some cases. The disease is chronic and inflammatory, usually causing motor disabilities, high protein levels in the spinal fluid and/or low motor nerve conduction. The spleen and liver are usually enlarged, and discoloration of the skin occurs as well as fluid retention and clubbing of the fingers. Solitary Plasmacytoma of Bone is characterized by only one lesion of the bone. Diagnosis relies on cell examination, no evidence of Multiple Myeloma in the bone marrow, and no M protein in the blood serum or urine. Extramedullary Plasmacytoma occurs when plasma cell tumors arise outside the bone marrow. The upper respiratory tract, which includes the nasal cavity and sinuses, nasopharynx, and larynx, is the most frequent site of involvement. However, extramedullary plasmacytomas have been found in virtually every organ of the body, making a confirmed diagnosis of Multiple Myeloma necessary. Therapies: Standard Treatment of Multiple Myeloma usually involves chemotherapy and analgesic drugs for pain. If kidneys are involved, the administration of fluids may be necessary to avoid dehydration. Other treatment may include radiation therapy to reduce bone masses that may develop. The use of the biologic drug, Interferon, combined with chemotherapy drugs may also be recommended. Plasmapheresis may be of benefit in some cases of Multiple Myeloma. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases. Therapies: Investigational Studies are being conducted in the use of Sandoglobulin as a treatment for Multiple Myeloma. Further investigation is needed to determine it's safety and effectiveness. The orphan product Melphalan (Alkeran for injection) is being studied by the FDA for the treatment of Multiple Myeloma in patients in whom oral therapy is not correct. The product is sponsored by Burroughs Wellcome Company, Research Triangle Park, NC. This disease entry is based upon medical information available through March 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Multiple Myeloma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1104-1106. EFFECTS OF PLASMAPHERESIS ON THE PLASMA CONCENTRATION OF PROTEINS USED TO MONITOR THE DISEASE PROCESS IN MULTIPLE MYELOMA. A. Wahlin, et al.; Acta Med Scand (1988, issue 223 (3)). Pp. 263-267. INTERFERONS IN THE TREATMENT OF MULTIPLE MYELOMA. M.R. Cooper, et al.; Cancer (February, 1987, issue 59 (3 Suppl)). Pp. 594-600. THE USE OF INTERFERON IN THE TREATMENT OF MULTIPLE MYELOMA. J.J. Costanzi, et al.; Semin Oncol (June, 1987, issue 14 (2 Suppl 2)). Pp. 24-28.24-28. Myeloma, Multiple 04031.TXT GCopyright (C) 1986, 1987, 1988, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 62: Myoclonus, General _________________________ ** IMPORTANT ** It is possible that the main title of the article (Myoclonus) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Disorder Subdivisions: Rhythmical Myoclonus (Segmental Myoclonus, including Nocturnal Myoclonus, Palatal Myoclonus and Respiratory Myoclonus) Arrhythmic Myoclonus (Stimulus-Sensitive Myoclonus, including Pathologic Myoclonus) Hereditary Essential Myoclonus (Paramyoclonus Multiple) Progressive Myoclonic Epilepsy Ramsay Hunt Syndrome (Dyssynergia Cerebellaris Myoclonica) Opsoclonus (Infantile Myoclonic Encephalopathy and Polymyoclonia) Familial Arrhythmic Myoclonus Intention Myoclonus (Action Myoclonus, including Postencephalitic Intention Myoclonus and Postanoxic Intention Myoclonus) Information on the following diseases can be found in the Related Disorders section of this report: Tourette Syndrome Jumping Frenchmen of Maine Huntington's Disease Torsion Dystonia Benign Essential Tremor General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Myoclonus is a neurological movement disorder characterized by sudden, involuntary contractions of skeletal muscles. Based on the various symptoms, there are three types of Myoclonus: Intention Myoclonus, Rhythmical Myoclonus, and Arrhythmic Myoclonus. Intention Myoclonus (Action Myoclonus) includes Postanoxic Myoclonus and Postencephalitic Myoclonus. Arrhythmic Myoclonus (stimulus-sensitive myoclonus) includes: Hereditary Essential Myoclonus (paramyoclonus multiplex), Hyperexplexia (Essential Startle Disease), Opsoclonus (Infantile Myoclonic Encephalopathy, Polymyoclonia Familial Arrhythmic Myoclonus), Progressive Myoclonic Epilepsy, Ramsay Hunt Syndrome (Dyssynergia Cerebellaris Myoclonia). Rhythmical Myoclonus includes (Segmental Myoclonus), Nocturnal Myoclonus, Palatal Myoclonus, and Respiratory Myoclonus. Symptoms Intention Myoclonus is characterized by episodes of sudden, involuntary muscle contractions that are triggered by voluntary movements, such as a purposeful action. In Arrhythmic Myoclonus, the muscle jerks lack any particular rhythm (arrhythmic) and occur without warning. The jerking movements may be confined to a single muscle or involve all of the skeletal muscles. The severity of the muscle contractions may vary from episode to episode and may differ among patients. The jerking contractions may be very severe and involve both sides of the body at the same time. Muscle contractions may be brought on (stimulated) by something that the person sees (visual), hears (auditory), and/or touches (tactile). The stimulus may also be physical fatigue, stress, and/or anxiety. In women, Myoclonus is often more intense prior to the beginning of the menstrual flow (premenstrually). Hyperexplexia (Essential Startle Response) is a form of Arrhythmic Myoclonus characterized by an exaggerated muscular response to sudden loud noises or other stimulus (startle reaction). The muscle jerks of Hyperexplexia come and go. Opsoclonus is a form of Myoclonus that is limited to one area of the body (localized). Typically Opsoclonus affects the eyes which jerk irregularly and together. When Opsoclonus occurs in infants with generalized Myoclonus, the infant is said to have Infantile Myoclonic Encephalopathy or Polymyoclonia Familial. Progressive Myoclonic Epilepsy, which is potentially disabling, combines severe epilepsy with significant stimulus-sensitive Myoclonus. In advanced disease, dementia may appear. (For more information, choose "Hyperexplexia" as your search term in the Rare Disease Database.) Ramsay Hunt Syndrome comprises many disorders including epilepsy, myoclonus, and degeneration of part of the brain (cerebellum) and spinal cord. Other neurological impairments may also be present. (For more information, choose "Epilepsy" as your search term in the Rare Disease Database.) Rhythmical (segmental) Myoclonus has a distinctive symptom; the muscles jerk at a frequency of 10 to 180 jerks per minute. The affected muscles are generally those that get their nerve supply (innervated) from one or more of the spinal cord segments. Unlike Arrhythmic Myoclonus, Rhythmical Myoclonus is not relieved by sleep and is not triggered by sudden stimuli or voluntary movements. In Nocturnal Myoclonus (Restless Legs Syndrome) there is frequent jerking of the body and/or the extremities, particularly the legs. The legs may jerk 2 to 3 times a minute when falling asleep, sleeping, or during deep relaxation during the day. Insomnia frequently accompanies attacks of Nocturnal Myoclonus. (For more information about Nocturnal Myoclonus, choose "Restless Legs" as your search term in the Rare Disease Database.) In Palatal Myoclonus there are quick rhythmical contractions of a section of the roof of the mouth (soft palate). Sometimes other muscles contract including those of the throat (pharynx), voice box (larynx), eyes, face, and/or diaphragm. Respiratory Myoclonus causes rapid rhythmic contractions of the muscles of the diaphragm. This may lead to shortness of breath or difficulty breathing (dyspnea). Causes Several types of Arrhythmic Myoclonus are inherited. Hereditary Essential Myoclonus and Ramsay Hunt Syndrome are inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Progressive Myoclonic Epilepsy, whether alone or with another hereditary disease such as Tay-Sachs or Kufs Disease, is usually inherited as an autosomal recessive genetic trait. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. It is also possible that there is an X-linked form of Progressive Myoclonus Epilepsy. X-linked recessive disorders are conditions that are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. It is thought that in the majority of people with Myoclonus, symptoms develop due to abnormally high levels of electrical discharges along nerve cells. In Rhythmical or Segmental Myoclonus, local trauma to the nerves in the spinal cord that control muscles is usually responsible. Overactivity of certain areas within the brain (medullary reticular formation or cerebral cortex) causes Arrhythmic Myoclonus. Some types of Intention Myoclonus, Essential Myoclonus, and Progressive Myoclonus Epilepsy may be associated with decreased activity of serotonin, a chemical (neurotransmitter) in the brain. Viral infections, blood vessel disorders, benign growths, malignant tumors, and/or traumatic lesions to the central nervous system may precede either Rhythmical or Arrhythmic Myoclonus. A lack of oxygen to the brain, usually due to heart or respiratory failure, can cause Postanoxic Myoclonus. Certain toxins, including some drugs in high doses, and metabolic disorders have also been implicated as a cause of Myoclonus. Affected Population Myoclonus affects males and females in equal numbers. Some forms of Myoclonus are common and some forms are rare. Related Disorders Symptoms of the following disorders can be similar to those of Myoclonus. Comparisons may be useful for a differential diagnosis: Tourette Syndrome is a neurologic movement disorder that is characterized by repetitive motor and vocal tics. The first symptoms are usually rapid eye blinking or facial grimaces. Symptoms may also include facial tics and involuntary movements of the extremities, shoulders, and the voluntary muscles. Inarticulate sounds or sometimes inappropriate words may occur. Tourette Syndrome is not a progressive or degenerative disorder; rather, symptoms tend to be variable and follow a chronic waxing and waning course. Symptoms usually begin before the age of 16 years. (For more information on this disorder, choose "Tourette" as your search term in the Rare Disease Database). Jumping Frenchmen of Maine is a very rare disorder characterized by an extreme startle response. The symptoms occur as a response to sudden, unexpected noise or movement. The extreme startle reaction includes jumping, raising the arms, hitting, yelling, unintelligible speech, and/or imitation or repetition of another person's body movements (echopraxia). The intensity of the response increases with fatigue and stress. (For more information on this disorder, choose "Jumping Frenchmen of Maine" as your search term in the Rare Disease Database.) Huntington's Disease (Huntington's Chorea) is a rare inherited, progressively degenerative neurological disorder characterized by involuntary muscle movements and dementia. Initially there are personality changes and uncontrolled rapid jerky muscle movements. In time, speech and memory become impaired and involuntary muscle movements become more frequent and severe. As Huntington's Disease progresses there is a further loss of cognitive abilities and dementia. The symptoms of this disorder usually begin during adulthood, generally after the age of forty. (For more information on this disorder choose, "Huntington's" as your search term in the Rare Disease Database.) Torsion Dystonia is a rare inherited neurological disorder characterized by involuntary contortions of the muscles in the neck, torso, arms, and legs. Occasionally only one or a few muscles are involved. People with Torsion Dystonia typically have an awkward, sideways gait. Other symptoms may include foot drag, cramps on the hands and feet, difficulty in grasping objects, and unclear speech. The involuntary movements of Dystonia are slow writhing movements. (For more information on this disorder, choose "Torsion Dystonia" as your search term in the Rare Disease Database.) Benign Essential Tremor is a rare neurological disorder characterized by a rhythmical tremor that may be pronounced. This disorder typically affects the upper extremities and the tremors usually has a frequency of 4 to 12 times per second. The tremors may be aggravated by stress, anxiety, fatigue, and/or cold temperatures. Relief from the tremors may be achieved by rest and sedation. The symptoms of Benign Essential Tremor generally stabilize after a period of progression. (For more information on this disorder, choose "Benign Essential Tremor" as your search term in the Rare Disease Database.) Therapies: Standard Clonazepam and other drugs known as benzodiazepine derivatives are commonly used to treat most forms of Myoclonus. These include Arrhythmic Myoclonus, including Progressive Myoclonus Epilepsy, Ramsay Hunt Syndrome, Myoclonus associated with Idiopathic Epilepsy, Infantile Spasms, and Postencephalitic and Postanoxic Intention Myoclonus. The drug diazepam is also used to treat these types of Myoclonus. People with this disorder may become tolerant to these drugs after a course of several months. Side effects such as sleepiness, unsteady gait (ataxia), lethargy, and/or behavioral changes may occur. Other anticonvulsant drugs with antimyoclonic activity may also be useful in the treatment of Myoclonus. Valproic acid is the most effective drug in the long-term treatment of Progressive Myoclonus Epilepsy; it is less effective in other forms of Myoclonus. ACTH or prednisone may be effective in treating a few forms of Myoclonus. These include Infantile Spasms, Infantile Myoclonic Encephalopathy, and Opsoclonus that occurs along with a brain tumor (neuroblastoma). Rhythmical Myoclonus is more difficult to treat. Drugs that have shown some promising results in some patients include clonazepam, tetrabenazine, and haloperidol. Genetic counseling will be of benefit for patients with the inherited forms of Myoclonus and their families. Therapies: Investigational An experimental drug, L-5 hydroxytryptophan (L-5HTP), is being studied for use in the treatment of Myoclonus. This drug is chemically similar to the organic chemicals that form serotonin. L-5HTP is used in combination with the drug carbidopa. The combination treatment is being investigated for its use in the treatment of Postanoxic Intention Myoclonus, Progressive Myoclonus Epilepsy, Essential Myoclonus, and Palatal Myoclonus. The side effects of this treatment mainly affect the gastrointestinal tract and may include diarrhea and nausea. These may be minimized by carefully managing the amount of carbidopa that is given. Combinations of clonazepam, valproic acid, and L-5HTP with carbidopa may be the treatment of choice in some patients with Myoclonus. L-5HTP is being developed by: Circa Pharmaceuticals 130 Lincoln St. Copiague, NY 11726 The drug Acetazolamide is being studied as a treatment for people with Ramsay Hunt Syndrome and severe Action Myoclonus. This drug is used in combination with clonazepam, sodium valproate, primidone and piracetam. The addition of acteazolamide to this combination may reduce the severity of muscle contractions in some patients. The long-term safety and effectiveness of this treatment is under study. Piracetam (Nootripil) is a drug that has been approved in England for treatment of cortical Myoclonus. This drug is used in combination with other epilepsy drugs. More study is needed to determine the long-term safety and effectiveness of piracetam as a treatment for Myoclonus. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Myoclonus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Pediatric Myoclonus Center Dept. of Neurology Children's Hospital 111 Michigan Ave., NW Washington, DC 20010-2970 Myoclonus Research Foundation 200 Old Palisade Avenue, Suite 17D Fort Lee, NJ 07024 (201) 585-0770 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Epilepsy Foundation of America 4351 Garden City Dr. Landover, MD 20785 (800) 332-1000 (301) 459-3700 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (301) 652-5553 (800) 336-GENE References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 737, 1574, 1928. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2136-2137. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. P. 1492. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 269, 311, 808-811. MYOCLONUS. WHAT CAUSES IT, WHAT CONTROLS IT. Van Woert, M.H., Chung Hwang, E.; Consultant (April 1982). Pp. 263-273. TREATMENT OF MYOCLONUS, Van Woert, M.H., Chung Hwang, E.; Current Status of Modern Therapy, vol. 8., ed. A. Barbeau. MTP Press: Lancaster, England, 1980. HANDBOOK OF CLINICAL NEUROLOGY, Vol. 38; Vinken, P.J. and Bruyn, G.W. Ed.; North Holland Publishing Co., (Van Woert, M.H., Chung Hwang, E.) Myoclonus Pages 575-93. EFFECT OF ANTIEPILEPTIC AND ANTIMYOCLONIC DRUGS ON SEROTONIN RECEPTORS IN VITRO. M. R. Pranzatelli. Epilepsia (Jul-Aug 1988; issue 29 (4)). Pp. 412-419. THE TREATMENT OF SEVERE ACTION MYOCLONUS. J. A. Obeso, et al.; Brain (Jun 1989; issue 112 (Pt 3)). Pp. 765-777. ACETAZOLAMIDE IMPROVES ACTION MYOCLONUS IN RAMSEY HUNT SYNDROME. L. Vaamonde et al., Clin Neuropharmacol (Oct 1992; 15(5)). Pp. 392-396.392-396. Myoclonus, General Ipagetitle 62: Myoclonus, General 04032.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 436: Myopathy, Scapuloperoneal _________________________ ** IMPORTANT ** It is possible the main title of the article (Scapuloperoneal Myopathy) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Scapuloperoneal Syndrome, Myopathic Type Myogenic (Facio)-Scapulo-Peroneal Syndrome Scapuloperoneal Muscular Dystrophy Information on the following diseases can be found in the Related Disorders section of this report: Davidenkov's Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Scapuloperoneal Myopathy is a genetic disorder characterized by a weakness and wasting of muscles. Symptoms are usually limited to the shoulder blade area (scapula) and the smaller of the two leg muscle groups below the knee (peroneal). Facial muscles may be affected in a few cases. The leg symptoms often appear before the shoulder muscles become weakened. Progression rates vary between cases. This condition can also occur in combination with several other disorders. Symptoms Symptoms of Scapuloperoneal Myopathy primarily include muscle weakness and wasting usually limited to the shoulder blade area and the legs below the knees. This disorder can begin in childhood or adulthood. The progression rate and severity can be variable, with some cases progressing more quickly than others. Causes Scapuloperoneal Myopathy is thought to be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Scapuloperoneal Myopathy affects males and females in equal numbers. Symptoms may begin in childhood or during adulthood. Related Disorders Symptoms of the following disorders can be similar to those of Scapuloperoneal Myopathy. Comparisons may be useful for a differential diagnosis: Davidenkov's Syndrome (also known as Kaeser Syndrome or Neurogenic Scapuloperoneal Amyotrophy) is characterized by muscle weakness and wasting (atrophy) below the knees accompanied by foot abnormalities and an unusual walk. Following these symptoms, the shoulder muscles become involved. Nerve impulses may become measurably slowed, which does not occur in Scapuloperoneal Myopathy. Pain, unusual sensations in the legs, heart problems, and muscle contractures may also occur. Therapies: Standard Treatment of Scapuloperoneal Myopathy should include specified amounts of therapeutic exercise and physical therapy alternating with periods of rest. Genetic counseling will benefit patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Scapuloperoneal Myopathy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SCAPULOPERONEAL MYOPATHY: D.H. Todman, et al.; Clin Exp Neurol (1984, issue 20). Pp. 169-174. SCAPULOPERONEAL SYNDROME WITH CARDIOMYOPATHY: REPORT OF A FAMILY WITH AUTOSOMAL DOMINANT INHERITANCE AND UNUSUAL FEATURES: A. Chakrabarti, et al.; J Neurol Neurosurg Psychiatry (Dec. 1981, issue 44(12)). Pp. 1146-1152. ADULT ONSET SCAPULOPERONEAL MYOPATHY: P.K. Thomas, et al.; J Neurol Neurosurg Psychiatry (Oct. 1975, issue 38(10)). Pp. 1008-1015. Myopathy, Scapuloperoneal pagetitle 436: Myopathy, Scapuloperoneal 04033.TXT "Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 366: Myositis Ossificans _________________________ ** IMPORTANT ** It is possible that the main title (Myositis Ossificans) may not be the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Myositis Ossificans Progressiva Fibrodysplasia Ossificans Progressiva Muenchmeyer Syndrome Patin's Syndrome Guy-Patin's Syndrome Fibrosis Ossificans Progressiva Stone Man Information on the following diseases can be found in the Related Disorders section of this report: Scoliosis Pseudohypoparathyroidism, also known as Martin-Albright Syndrome or Seabright-Bantam Syndrome Calcinosis Universalis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Myositis Ossificans is a rare progressive disorder marked by bone tissue-like formations (calcifications) which occur inside skeletal muscles. Stiffening or weakening of muscles may occur where calcifications are found. Other signs of this disorder may include shortened fingers or toes and curvature of the spine (scoliosis). Very rarely patients may experience deafness, baldness or mental retardation with this disorder. Symptoms Myositis Ossificans causes progressive weakening or stiffening of muscles where abnormal bone tissue-like formation (calcification) has occurred. Bands of tissue connecting muscles together, tissues connecting tendons to muscles, and tendons, may also become weak or stiff. Pain and tenderness during contraction of muscles is common. In some cases, swelling resembling bruises may appear on the skin at the site of calcifications. In later stages, progression of the disorder may be unpredictable. Curvature of the spine (scoliosis) can occur. In the most serious cases, the ability to walk may be limited. Deafness, baldness or mental retardation may occur as rare symptoms of this disorder. Causes Myositis Ossificans is suspected to be inherited as a dominant trait. A non-hereditary disorder with similar muscle involvement consists of calcifications resulting from muscle injuries. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Only approximately 350 cases of Myositis Ossificans have been described in medical literature in this century. This disorder usually appears before ten years of age. Myositis Ossificans seems to affect males and females in equal numbers. Related Disorders The following diseases are similar to Myositis Ossificans. Comparisons may be useful for a differential diagnosis. A variant of Myositis Ossificans involves calcifications developing as a result of muscle injury which may not be related to genetic factors. Pseudohypoparathyroidism (Martin-Albright Syndrome) is also known as Seabright-Bantam Syndrome. This disorder is inherited as an X-linked trait. Although normal amounts of the parathyroid hormone are present, inadequate response to the hormone affects bone growth in Pseudohypoparathyroidism patients. Headaches, weakness, tiring easily, lethargy and blurred vision or sensitivity to light can occur. Unusual sensations, stiffness or cramps in arms or legs, palpitations and abdominal pain may be noticed. A round face, thick short stature, shortened fingers or toes, and mental deficiencies are also found in patients with Martin-Albright Syndrome. The prognosis is good for most patients. Hormonal and calcium replacement therapy is often useful, but the lack of growth may persist. Calcinosis Universalis is a skin disorder with sore or tender skin due to excess calcium deposits. This progressive disorder can appear at any age. The skin lesions may be accompanied by calcium deposits around joints or in muscles. This may lead to muscle weakness and swelling. The kidneys, stomach or lungs may also have calcium deposits. The prognosis depends on the degree of involvement and treatment of associated infections. The following disorders may be associated with Myositis Ossificans as secondary characteristics. They are not necessary for a differential diagnosis. Scoliosis is a curvature of the spine often developing in pre- and early adolescence. A common disorder in the United States, it tends to affect more girls than boys. One form of Scoliosis is believed to be hereditary. Screening for Scoliosis is often a part of the normal physical examination provided annually to children. Early detection is helpful in stopping progression of the disorder. (For more information on Scoliosis, please contact the National Scoliosis Foundation. The address is listed in the Resources Section of this report). Therapies: Standard Symptoms of Myositis Ossificans can usually be treated without surgery. Use of steroid drugs and xylocaine (lidocaine) may reduce inflammation and muscle stiffness. Use of antibiotics to treat infections is often helpful. Surgery or biopsy of calcifications may sometimes worsen symptoms; surgery should be performed only in the most severe cases. Intramuscular injections, muscle injury, careless puncture of a vein or dental surgery may also make calcifications more severe. Other treatment is symptomatic and supportive. Agencies and programs which assist handicapped individuals may be helpful to patients and their families. Families with the hereditary form of Myositis Ossificans can benefit from genetic counseling. Therapies: Investigational Sonotomography, X-ray and scintigraphy are all imaging procedures being tested to accurately pinpoint and monitor the size of calcifications in muscles in Myositis Ossificans. Sonograms are graphic representations of deep structures of the body using echoes of pulses of high frequency sound waves directed at the tissues. Scintigraphs are photographic two-dimensional maps of gamma ray concentration in specific tissues of the body. Imaging procedures are used at regular intervals to determine whether calcifications continue to grow. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Myositis Ossificans, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 For information about Scoliosis contact: National Scoliosis Foundation, Inc. 72 Mount Auburn St. Watertown, MA 02172 (617) 926-0397 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 International FOP Organization 910 North Jerico Casselberry, FL 32707 (407) 365-4194 For information on genetics, contact and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1274 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References FIBRODYSPLASIA OSSIFICANS PROGRESSIVA. THE CLINICAL FEATURES AND NATURAL HISTORY OF 34 PATIENTS: J.M. Connor, et. al.; J Bone Joint Surg [Br] (1982, issue 64(1)). Pp. 76-83. DIAGNOSTIC AND THERAPEUTIC ASPECTS OF MYOSITIS OSSIFICANS (AUTHOR' TRANSL): P. Jenny, et. al.; Z Kinderchir (March 1982, issue 35(3)). Pp. 86-87. TREATMENT OF TRAUMATIC MYOSITIS OSSIFICANS CIRCUMSCRIPTA; USE OF ASPIRATION AND STEROIDS: J.C. Molloy, et. al.; J Trauma (Nov. 1976, issue 16(11)). Pp. 851-857. Myositis Ossificans #pagetitle 366: Myositis Ossificans 04034.TXT pagetitle 649: Myositis, Inclusion Body Copyright (C) 1989 National Organization for Rare Disorders, Inc. 649: Myositis, Inclusion Body _________________________ ** IMPORTANT ** It is possible that the main title of the article (Inclusion Body Myositis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms IBM Disorder Subdivisions: Inflammatory Myopathy Information on the following diseases can be found in the Related Disorders section of this report: Dermatomyositis Idiopathic Polymyositis Distal Myopathy Mixed Connective Tissue Disease Oculopharyngeal Muscular Dystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Inclusion Body Myositis (IBM) is a slowly progressive weakness of muscle groups located either away from the point of origin (distal) or nearest to the trunk or point of origin (proximal). Symptoms Inclusion Body Myositis (IBM) is characterized by a distinct, progressive muscle weakness of the proximal and distal muscles. It is recognized as an inflammatory disease of the skeletal muscles. IBM is not usually associated with skin rash, malignancy, or collagen vascular disease. However, exceptions to each of these general rules has been found in certain patients. Clinically IBM differs from dermatomyositis and polymyositis because it lacks the features of a collagen vascular disease which include symptoms of fever, headache, joint and muscle pain, and weakness. It has a relatively benign and protracted course. In polymyositis and Inclusion Body Myositis there is evidence of macrophages (scavenger cells) which surround, invade, and destroy non-necrotic (living) muscle fibers. Disorder Subdivisions: Inflammatory Myopathy is an inflammation of the muscle groups, which causes progressive muscle weakness. Causes Inclusion Body Myositis seems to be a distinct type of inflammatory muscle disease. It's cause is unknown. A virus or possibly a neurogenic cause (related to or starting in the nervous system) has been suggested, but both theories remain unproven. Affected Population IBM occurs primarily in elderly persons with the average age of onset being 53. However, young adults in their teens have been affected. It seems to affect mostly males. Related Disorders Symptoms of the following disorders can be similar to those of Inclusion Body Myositis. Comparisons may be useful for a differential diagnosis: Dermatomyositis is a systemic connective tissue disorder characterized by inflammatory and degenerative changes in the muscles, subcutaneous tissues and skin. Symptoms may come and go, but the main symptom is muscle weakness, most often in the hip and shoulder, usually accompanied by a rash. There is often underlying cancer in 50% of adult cases. This disorder may possibly be an autoimmune disease. (Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack healthy tissue.) (For more information on this disorder, choose "Dermatomyositis" as your search term in the Rare Disease Database). Idiopathic Polymyositis is a systemic connective tissue disorder characterized by inflammatory and degenerative changes in the muscles leading to weakness and some degree of muscle atrophy. The areas primarily affected are the hip, shoulder, and chest. (For more information on this disorder, choose "Polymyositis" as your search term in the Rare Disease Database). Distal Myopathy affects predominantly the small muscles of the extremities. Onset is usually after age 40, with weakness and wasting of small muscles of the hands. Autosomal dominant inheritance is thought to be a cause. Mixed Connective Tissue Disease (MCTD) is a rheumatic disease characterized by overlapping features similar to those of systemic lupus erythematous (SLE), scleroderma and polymyositis. The cause is unknown, but it is suggested that the immune system may be involved. MCTD appears to be more common than polymyositis and less common than scleroderma. Symptoms of MCTD may include Raynaud's phenomena (cold and numbness of fingers), arthritis, swollen hands, inflammatory proximal muscle weakness, dysfunction of the esophagus, and lung disease. MCTD is often used to describe what may be an overlapping group of connective tissue diseases that cannot be diagnosed in more specific terms. (For more information on this disorder, choose "MCTD" as your search term in the Rare Disease Database). Oculopharyngeal Muscular Dystrophy usually occurs in adulthood. Extraocular muscles are involved initially and the muscles used for swallowing tend to become affected. The typical facial appearance, especially drooping of the eyelids, resembles that found in myasthenia gravis. The inheritance pattern often follows an autosomal dominant pattern. However, occasional sporadic cases and cases with autosomal recessive inheritance have occurred. Therapies: Standard Inclusion Body Myositis does not readily yield to treatment with steroids or other immunosuppressive drugs. Researchers are trying to understand the cause of IBM in order to develop more effective therapies. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Inclusion Body Myositis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Inclusion Body Myositis Association 1420 Huron Ct. Harrisburg, VA 22801 (703) 433-7935 (write or if calling, between the hours of 9:00-11:30 a.m. and 6:30-7:30 p.m., please) The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 427. ONOCLONAL ANTIBODY ANALYSIS OF MONOCUCLEAR CELLS IN MYOPATHIES. V: IDENTIFICATION AND QUANTITATION OF T8+ CYTOTOXIC AND T8+ SUPPRESSOR CELLS. K. Arahata, et. al; Ann. Neurol. (May, 1988, issue 23 (5)). Pp. 493-9. INCLUSION BODY MYOSITIS: A CHRONIC PERSISTENT MUMPS MYOSITIS? S.M. Chou; Hum. Pathol. (August, 1986, issue 17(8)). Pp. 765-77. INCLUSION BODY MYOSITIS AND SYSTEMIC LUPUS ERYTHEMATOSUS. R.A. Yood, et. al; J. Rheumatol. (June, 1985, issue 12(3)). Pp. 568-70. Myositis, Inclusion Body 04035.TXT "Copyright (C) 1986, 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 313: N-Acetyl Glutamate Synthetase Deficiency _________________________ ** IMPORTANT ** It is possible the main title of the article (N-Acetyl Glutamate Synthetase Deficiency) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms NAGS Deficiency Urea Cycle Disorders Inborn Errors of Urea Synthesis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. N-Acetyl Glutamate Synthetase (NAGS) Deficiency is one of several hereditary urea cycle disorders. These disorders are caused by a deficiency of one of the enzymes needed for the breakdown of ammonia into urea, which is normally excreted in the urine. The deficiencies cause an excess of ammonia in the blood (hyperammonemia). (For more information on the other Urea Cycle Disorders, choose "urea cycle disorder" as your search term in the Rare Disease Database.) In NAGS Deficiency the deficient enzyme is N-acetyl glutamate synthetase. If left untreated, NAGS deficiency manifests itself by an elevated level of toxic ammonia in the blood (hyperammonemia). Untreated this imbalance may lead to brain damage, coma, and eventually death. Symptoms NAGS Deficiency is characterized in infants by an excess of ammonia in the blood (hyperammonemia). Differential diagnosis is based on the absence of citrulline and a low level of arginine in blood plasma and a low level of orotic acid in the urine. Immediate treatment after diagnosis in newborn babies is imperative. If left untreated, brain damage and coma usually occur, which may lead to death. Causes NAGS Deficiency is an autosomal recessive hereditary disorder in which the activity of the enzyme N-acetyl glutamate synthetase is deficient. This deficiency causes an accumulation of excess ammonia in blood and body tissues. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population NAGS Deficiency is a very rare disorder affecting less than a thousand people in the United States. Males and females are affected equally. Onset of the symptoms occurs at birth. Related Disorders Organic Acidemias are characterized by hyperammonemia associated with metabolic acidosis, with an anion gap, and sometimes ketonuria. These disorders are also of genetic origin and affect the Urea Cycle as a secondary phenomenon. Reye Syndrome is a combination of acute brain disease (encephalopathy), and fatty degeneration of the abdominal organs (viscera), which tends to follow some acute virus infections (such as flu and chickenpox) combined with certain toxins (usually aspirin). (For more information, choose "Reye" as your search term in the Rare Disease Database.) The following Urea Cycle Disorders can also be found in the Rare Disease Database. They are all characterized by deficiencies of enzymes that are needed for different steps in the incorporation of ammonium into urea. The symptoms of all Urea Cycle Disorders result from hyperammonemia, in different degrees of severity. Carbamyl Phosphate Synthetase (CPS) Deficiency Ornithine Transcarbamylase (OTC) Deficiency Citrullinemia Arginino Succinic Aciduria Arginase Deficiency Therapies: Standard As soon as a urea cycle disorder is suspected, a number of diagnostic tests should be performed, including measurement of pH to assess the acidity of blood and body tissues, plasma levels of ammonia, amino acids, and bicarbonate. However, before the results of these tests are in, treatment of hyperammonemia should be started to prevent coma and/or brain damage. As soon as CPS Deficiency is diagnosed in a newborn baby, dialysis or exchange transfusion should be started. If hyperammoniac coma is present shortly after birth, a combined treatment needs to be started as soon as possible, which may include hemodialysis. Genetic counseling is imperative for the family of children with CPS Deficiency. Enzyme replacement therapy shows potential promise for treatment of urea cycle disorders including CPS Deficiency. Research on this type of therapy is in a preliminary stage. A regimen consisting of acute hemodialysis followed by a restricted intake of protein, plus sodium benzoate, sodium phenylacetate, and orginine or citrulline is being used on an experimental basis. Two new investigational drugs, sodium (or calcium) benzoate, and sodium (or calcium) phenylacetate, are used to enhance waste nitrogen excretion. Thus they prevent toxic ammonia buildup in the blood. These orphan drugs have been developed by Dr. Saul Brusilow (see Resources section of this entry) who is also developing sodium (or calcium) phenylbutyrate which does not have an offensive smell. The drug benzoate/phenylacetate (Ucephan) was approved in 1988 for use in the prevention and treatment of hyperammonemia in patients with urea cycle enzymopathy (UCE) due to enzyme deficiencies. The drug is manufactured by: Kendall McGaw Laboratories, Inc. P.O. Box 25080 Santa Ana, CA 92799-5080 For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. Therapies: Investigational Clinical trials are underway to study L-Carnitine in amino acid and fat metabolism. Interested persons may wish to contact: Charles R. Roe, M.D. Box 3028 Duke University Medical Center Durham, NC 27710 (919) 684-2036 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on N-Acetyl Glutamate Synthetase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Urea Cycle Disorders Foundation 4559 Vauxhall Rd. Richmond, VA 23234-3556 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Saul Brusilow, M.D. 301 Children's Medical and Surgical Center Johns Hopkins Hospital 600 N. Wolfe St. Baltimore, MD 21205 (310) 955-0885 The National Kidney Foundation 2 Park Ave. New York, NY 10016 (212) 8689-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References DISORDERS OF THE UREA CYCLE: Saul W. Brusilow; Hospital Practice (October 15, 1985; issue 305). Pp. 65-72. SYMPTOMATIC INBORN ERRORS OF METABOLISM IN THE NEONATE: Saul W. Brusilow and David L. Vallee; In: Current Therapy in Neonatal-Perinatal Medicine. Marcel Decker, 1985. Pp. 207-212. N-Acetyl Glutamate Synthetase Deficiency #pagetitle 313: N-Acetyl Glutamate Synthetase Deficiency 04036.TXT 1Copyright (C) 1992, 1993 National Organization for Rare Disorders, Inc. 892: Nager Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Nager Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Nager Acrofacial Dysostosis Syndrome Acrofacial Dysostosis, Nager Type Mandibulofacial Dysostosis AFD Split Hand Deformity-Mandibulofacial Dysostosis Information on the following diseases can be found in the Related Disorders section of this report: Miller Syndrome Treacher Collins Syndrome Goldenhar-Gorlin Syndrome Oral-Digital-Facial Syndrome Juberg-Hayward Syndrome Hemifacial Microsomia General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Nager Syndrome is a rare disorder that may or may not be genetic. Major symptoms may include underdevelopment of the cheek and jaw area of the face. Down-sloping of the opening of the eyes, a smaller than normal jaw, lack or absence of the lower eyelashes, lack of development of the internal and external ear with related hearing problems and cleft palate may also occur. There may be underdevelopment or absence of the thumb, shortened forearms and poor movement in the elbow. Breathing and feeding problems may be present in infants with this syndrome. Symptoms Nager Syndrome is characterized by underdevelopment of the bones of the cheek and jaw area of the face. The eyes may slant downward and there may also be an absence of eyelashes. A smaller than normal jaw, and internal and external ear deformities may also be present. Clefting of the soft and hard palate may occur as well as deformities of the thumbs and arms. Missing, overlapping or webbing of the toes may occur. Clubfeet, hip dislocation and underdeveloped ribs may occasionally be present. Some patients may have heart problems related to the syndrome. There may be hair growing on the sides of the face in an elongated sideburn effect. Feeding, breathing, hearing and speech problems need to be taken care of as soon as possible in order to aid in proper development of the child. This syndrome is very closely related to Miller Syndrome and in some cases has also been misdiagnosed as Treacher Collins Syndrome. Causes The exact cause of Nager Syndrome is not known. However, scientists believe that it may be a genetic disorder inherited either through autosomal recessive or dominant inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Nager Syndrome is a very rare disorder that affects males and females in equal numbers. It is apparent at birth and may also be detected prenatally by ultrasound screening. Related Disorders Symptoms of the following disorders can be similar to those of Nager Syndrome. Comparisons may be useful for a differential diagnosis: Miller Syndrome is a very rare genetic disorder. Major symptoms may include shortening of the upper and lower limbs, cupped ears, lower eyelid abnormalities (coloboma) and lack of development of the lower jaw. There is a lack of development of the long bones in the arms and legs causing shortening of those limbs. There is sometimes clefting of the soft palate or lip. (For more information on this disorder, choose "Miller" as your search term in the Rare Disease Database). Treacher Collins Syndrome is characterized by underdevelopment of the cheek (malar), the lower jaw (mandibular) and jaw bones, slanted eyes, notching of lower eyelids, and a receding chin. Underdevelopment of the jaw may cause problems in swallowing or breathing for the newborn. Tubes may have to be inserted to aid the infant in feeding and breathing. The outer upper area of the ear (pinna) may be malformed as well as the external hearing canal (auditory meatus). The eardrum (tympanic membrane) may be replaced with a bony plate. The combination of a longer than normal face with a beaklike nose, receding chin and acute deafness, are characteristic of people with Treacher Collins Syndrome. (For more information on this disorder, choose "Treacher Collins" as your search term in the Rare Disease Database). Goldenhar-Gorlin Syndrome is a rare congenital disorder that involves unusual facial characteristics. The facial structure of people with Goldenhar Syndrome may include partial absence of the upper eyelid or an unusual slant of the eyelid, abnormal shape of the skull (asymmetry), the forehead may be sharply prominent, the nostrils may be absent or closed, the roof of the mouth may be clefted (cleft palate), and there may be abnormal growth of the jaw. Paralysis of the eye muscles may occur. Unusual cysts on the eyeball, cysts in fatty tissue at the edge of the eye and skin growths around the ears (skin tags) may also occur. Malformations of the spinal column including open spine (spina bifida), fusion of the top of the spine to the lower edge of the skull, incomplete development of one side of the spinal column and more than the normal number of vertebrae may also be present. (For more information on this disorder, choose "Goldenhar" as your search term in the Rare Disease Database). Oral-Facial-Digital Syndrome is a rare genetic disorder characterized by episodes of neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue (frenulum), a broad based nose, vertical folds of skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, and shorter than normal fingers and/or toes. (For more information on this disorder, choose "Oral-Facial-Digital" as your search term in the Rare Disease Database). Juberg-Hayward Syndrome (Orocraniodigital Syndrome) is a rare hereditary disorder characterized by cleft lip and palate, a smaller than normal sized head, deformities of the thumbs and toes, and growth hormone deficiency resulting in short stature. Hemifacial Microsomia (HFM) is a syndrome that affects one in 5,000 births. It can be confused with a Treacher Collins-like Syndrome. However, it is not genetic. Although it can cause abnormalities on both sides of the face, they are always uneven whereas in Treacher Collins Syndrome both sides of the face appear equally affected. The facial nerve is frequently paralyzed in Hemifacial Microsomia. The variety of features of HFM include: underdevelopment of the lower jaw, tilting of the face to one side, ear deformities (microtia), facial nerve weakness in forty percent of patients, cleft-like notching of the affected corner of the mouth (macrostomia), and underdevelopment of the cheek and eye on the affected side of the face. Other common abnormalities include fatty tumors over the eye, abnormalities of the vertebrae and ribs, cleft lip/palate, and heart and kidney abnormalities which are very rare. Therapies: Standard Treatment of Nager Syndrome may consist of surgery to insert breathing and feeding tubes in infants who are unable to breath or eat due to deformities of the palate or jaw. Surgery may be needed on the ears to aid in hearing in those with ear defects. There may be a need for multiple plastic surgeries to correct eye and jaw defects and cleft palate. Physical therapy often is necessary to improve use of hands and feet. Orthopedic surgery may also be necessary to try and correct deformities of the arms, hands, feet or toes. Speech therapy may be needed to aid in hearing and language development. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Scientists are studying various surgical methods to improve the appearance of patients with craniofacial and other birth defects affecting the head, eyes and jaw. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. To participate in this study families with individuals with Miller Syndrome should contact: Eric A. Wulfsberg, M.D. Karen Supovitz, M.S. Division of Human Genetics University of Maryland School of Medicine Baltimore, MD 20201-1703 (410) 328-3815 This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Nager Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Foundation for Nager & Miller Syndromes 721 South Carlisle St South Bend, IN 46619 (219) 289-5611 NIH/National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 (800) 535-3643 American Society for Deaf Children 814 Thayer Ave Silver Spring, MD 20910 (301) 585-5400 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 597. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 216-217. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 44-45. THE NAGER ACROFACIAL DYSOSTOSIS SYNDROME WITH THE TETRALOGY OF FALLOT, E. Thompson, et al.; J Med Genet, October, 1985, (issue 22 (5)). Pp. 408-410. A SIGNIFICANT FEATURE OF NAGER'S SYNDROME: PALATAL AGENESIS., I.T. Jackson, et al.; Plast Reconstr Surg, August, 1989, (issue 84 (2)). Pp. 219-226. NAGER ACROFACIAL DYSOSTOSIS: EVIDENCE FOR APPARENT HETEROGENEITY., D.J. Goldstein, et al.; Am J Med Genet, July, 1988, (issue 30 (3)). Pp. 741-746. Nager Syndrome 2pagetitle 892: Nager Syndrome 04037.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 567: Nail-Patella Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Nail-Patella Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms NPS Hereditary Onychoosteodysplasia Turner-Kieser Syndrome Fong Syndrome DISORDER SUBDIVISIONS Nail-Patella-Like Renal Disease Information on the following diseases can be found in the Related Disorders section of this report: Alport's Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Nail-Patella Syndrome is a rare genetic nail, bone and kidney disorder linked to the ABO blood group. Major symptoms may include the absence or underdevelopment of finger and toe nails, and kneecaps (patella). The pelvic bone may be overgrown. Underdevelopment of the bones in the elbows is usually present and kidney problems may also occur. Symptoms The most common feature of Nail-Patella Syndrome is missing or excessively small kneecaps. Additionally, frequent dislocation of the kneecaps occurs due to joint deformity. The thumbnail is often affected and is either missing or cracked; it may have ridges or other deformities. The range of movement of the elbow is limited; either it is unable to extend properly or to relax its position completely. The pelvic bone develops bony overgrowths called iliac spurs. About half of the patients with Nail-Patella Syndrome also have kidney problems such as passing of protein or blood in the urine. Without treatment, kidney failure could occur. Causes The exact cause of Nail-Patella Syndrome is not known. It is thought to be inherited as an autosomal dominant trait linked to the ABO blood group. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) Affected Population Nail-Patella Syndrome is a rare disorder affecting females approximately ten percent more often than males. Related Disorders Symptoms of the following disorders can be similar to those of Nail-Patella Syndrome. Comparisons may be useful for a differential diagnosis: Alport's Syndrome is a hereditary kidney disease characterized by blood and protein in the urine, kidney function impairment, nerve deafness and eye abnormalities. It occurs more often in females than males. However, the disease is more serious in males than females. Often the females have few or no sign of the disease while the males develop kidney problems during their twenties or thirties. Nerve deafness is more frequently present than eye abnormalities, which may include cataracts and other problems. (For more information on this disorder, choose "Alport" as your search term in the Rare Disease Database). The following disorder may be associated with Nail-Patella Syndrome as secondary characteristics. They are not necessary for a differential diagnosis: Nail-Patella-Like Renal Disease (Nail-Patella Syndrome Type), involves the kidneys without the symptoms of the bone and nail syndrome. However, electron microscopic tests indicate that the internal abnormal changes are the same. Therapies: Standard Treatment of Kidney disease associated with Nail-Patella Syndrome may consist of the use of dialysis and possibly transplants when severe kidney problems arise. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Nail-Patella Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.513, 1153. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp.878. AN AUTOSOMAL RECESSIVE DISORDER, WITH GLOMERULAR BASEMENT MEMBRANE ABNORMALITIES SIMILAR TO THOSE SEEN IN THE NAIL PATELLA SYNDROME; REPORT OF A KINDRED. J. R. Salcedo, Am J Med Genet (1984, issue 19). Pp. 579-584. Nail-Patella Syndrome STA) pagetitle 567: Nail-Patella Syndrome 04038.TXT `3D3Copyright (C) 1986, 1988, 1990, 1993 National Organization for Rare Disorders, Inc. 55: Narcolepsy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Narcolepsy) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Gelineau's Syndrome Paroxysmal Sleep Sleep Epilepsy Information on the following diseases can be found in the Related Disorders section of this report: Familial Periodic Paralysis Sleep Apnea General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Narcolepsy is a rare disorder characterized by abnormal drowsiness during the day, sudden extreme muscle weakness (cataplexy), hallucinations, paralysis while sleeping, and disrupted sleep during the night. Symptoms The symptoms of Narcolepsy generally begin between the ages of 10 to 20 years. The development and severity of symptoms vary greatly from patient to patient. The onset of Narcolepsy symptoms initially occurs one at a time; appearance of new symptoms may be separated by years, and generally do not appear in any specific order. Narcolepsy usually begins in an adolescent whose initial symptoms are mild but become worse with age. Sometimes symptoms do not change for months or years, while at other times symptoms may change very quickly. Exaggerated daytime drowsiness is usually the first symptom of Narcolepsy. People with Narcolepsy usually experience periods of sleepiness, tiredness, lack of energy, an irresistible urge to sleep ("sleep attack"), and/or an inability to resist sleep. This susceptibility to unending drowsiness and/or falling asleep may occur every day but the severity varies throughout each day. The total sleep time for people with Narcolepsy in every 24 hour period is generally normal because they sleep repeatedly for short periods during the day and night. Another symptom of Narcolepsy is the sudden loss of voluntary muscle tone (cataplexy). This often occurs during times of intense emotions such as anger, elation, and/or surprise. Episodes of cataplexy may occur as short periods of partial muscle weakness. Occasionally, there may be an almost complete loss of muscle control that lasts for several minutes. This may result in sudden collapse. During a cataplectic attack, speech and movement become difficult or impossible although there is no loss of consciousness. People experiencing a cataplectic attack generally maintain partial awareness of their surroundings. Only some people with Narcolepsy will also have cataplexy, and cataplexy is not necessary for a diagnosis of Narcolepsy. Hallucinations are frightening episodes that may occur during the beginning and/or end of a sleep period (hypnaogic hallucinations) in people with Narcolepsy. Hallucinations may pertain to any or all of the senses (i.e., taste, touch, smell, hearing, and/or vision). These hallucinations may be so intense that it may be impossible for the person to distinguish reality from fantasy. People with Narcolepsy may experience "sleep paralysis." During sleep they may want to move but are unable to do so and as a result may experience panic. The occurrence of sleep paralysis typically coincides with falling asleep or waking up. People with Narcolepsy may awaken during the night as a result of nightmares, the urge to urinate, and/or temporary, repeated interruptions of breathing (sleep apnea). At times there is no apparent reason for awakening, and frequently the awakenings are associated with a craving for food, especially something sweet. (For more information on Sleep Apnea, see Related Disorders section of this report.) Causes The exact cause of Narcolepsy is not known. This disorder is known to run in families and an association with the human leukocyte antigen (HLA-DR2) has been reported in some cases of Narcolepsy. HLAs are genetic markers that have been identified on human chromosome 6. Scientists suspect that inheritance of a gene makes a person susceptible to Narcolepsy, but they do not know the pattern of inheritance and how the gene may be transferred from one generation to another. Affected Population The exact number of people with Narcolepsy in the United States is unknown. The American Narcolepsy Association has estimated that Narcolepsy affects approximately 200,000 Americans but other estimates are lower. Approximately 5 percent of people with Narcolepsy experience symptoms by the age of 10 years; 5 percent of patients have symptoms after the age of 20 years, and 18 percent of people with Narcolepsy develop symptoms after the age of 30 years. Symptoms rarely begin after the age 40. Narcolepsy tends to remain a lifelong condition. Slightly more males are affected by this disorder than females. Related Disorders Symptoms of the following disorders can be similar to those of Narcolepsy. Comparisons may be useful for a differential diagnosis: Symptoms resembling those of Narcolepsy may occur after brain tumors (intracranial), head trauma, hardening of the arteries in the brain (cerebral arteriosclerosis), psychosis, and/or excessive amounts of protein in the blood due to kidney failure (uremia). Episodes of sudden extreme muscle weakness (cataplexy) may also occur because of Familial Periodic Paralysis. This disorder is characterized by periods of cataplexy that last for prolonged periods of time as compared with cataplexy associated with Narcolepsy. Familial Periodic Paralysis is a result of an inborn error of potassium metabolism that causes abnormally high levels of this mineral in the blood. Sleep Apnea is a common sleep disorder characterized by temporary, recurrent interruptions of breathing during sleep. Symptoms of the disorder include wakefulness during the night, excessive sleepiness during the day, loud snoring, and/or obesity. In obstructive apnea, the most common form of Sleep Apnea, labored breathing is interrupted by airway tightening (constriction). The muscles of the diaphragm and chest build up sufficient pressure to force the airway open; partial awakening may then occur and the person may gasp for air. Sleep is resumed as breathing begins again. Untreated Sleep Apnea may be associated with high blood pressure, irregular heart beats, swelling in the arms and/or legs, hallucinations, anxiety, and/or irritability. (For more information on this disorder, choose "Apnea, Sleep" as your search term in the Rare Disease Database.) Therapies: Standard Diagnosis of Narcolepsy is made through sleep tests which monitor breathing, brain, and muscle activity throughout all the stages of sleep. A physician who is trained in sleep disorders is able to diagnose and treat Narcolepsy. There are several drugs that may help to control the symptoms of Narcolepsy. The medications selected for a particular patient are based on their symptoms and response to previous therapy. In some patients, Narcolepsy may be accompanied by repeated episodes of cataplexy while in other patients, sleep attacks are the most compelling symptoms. Those people who are not seriously hampered by sleep attacks, sleepiness, or cataplexy may not require drug therapy. Drugs used to treat people with Narcolepsy who experience sleep attacks and/or excessive sleepiness may include methamphetamines (such as Desoxyn) or amphetamines (such as Ritalin, Cylert, Dexedrine, or pemoline). Side effects of these drugs may include personality changes (particularly tenseness and irritability), and depression. These side effects typically occur in the late afternoon and evening as the drugs wear off, and/or on weekends when some individuals tend to reduce their drug dosage. Methylphenidate (Ritalin) is the preferred drug (a central nervous system stimulant) for the treatment of sleep attacks and drowsiness. Ritalin can be used together with other drugs used to treat cataplexy, whereas some other medications of this type can produce serious drug interactions. Drugs used to treat people with Narcolepsy who experience cataplexy include imipramine (tofranil), desipramine, protriptyline, and chlorimipramine. Some people with Narcolepsy may experience drug tolerance leading to a need for higher dosages which may increase the risks of side effects. Sudden withdrawal of these types of medications may result in exaggerated drowsiness, a dangerously severe depression, and/or a very dramatic increase of cataplectic symptoms. Close medical supervision by a physician is necessary for patients taking these drugs or withdrawing from them. Sleep habits are important for a person with Narcolepsy. Assuring regular bedtime hours and the prevention of sleep interruptions are important. Intervals of naps during the day may help to control excessive daytime sleepiness. A physician should help the patient in establishing a sleep schedule that is the most beneficial for the individual. Those Narcolepsy patients who also have sleep apnea will benefit from use of a device called a Continuous Positive Airway Pressure (CPAP). This medical device enables the patient to breathe normally during sleep so they are not deprived of oxygen and can achieve a more normal sleep pattern. Therapies: Investigational The National Institute of Mental Health (NIMH) and the National Institute of Neurological Disorders and Stroke (NINDS) support research in sleep disorders, including Narcolepsy. Gamma-hydroxybutyrate (GHB) is an orphan drug that is being tested in sleep disorder centers as a treatment for Narcolepsy and cataplexy. Fewer episodes of sleep paralysis and hynagogic hallucinations have been reported in some patients taking this drug. Preliminary studies indicate that some patients with Narcolepsy can stop or reduce their use of stimulant medications while taking gamma-hydroxybutyrate. The experimental drug is manufactured by Biocraft Laboratories, P.O. Box CN0200, Elmwood Park, New Jersey, 07407. Vitoxazine hydrochloride is another experimental drug currently being studied, especially for the control of cataplectic symptoms associated with Narcolepsy. For further information about this drug contact Stuart Pharmaceuticals, Division of ICI Americas, Inc., Wilmington, Delaware, 19897. Scientists are beginning to study human brain tissue from people with Narcolepsy. Preliminary reports suggest that the brains of people with Narcolepsy may have abnormally high numbers of specialized chemical sites (receptors) in their brain cells that bind to the neurotransmitter dopamine. These dopamine receptors are located deep within the brain in the basal ganglia, an area that regulates movement and emotions. This abnormality of dopamine receptors may be associated with the fact that emotional extremes can trigger attacks of cataplexy. More study of brain tissue is needed to confirm these findings. However, since people do not die of Narcolepsy, it is difficult for scientists to obtain enough postmortem brain tissue for study. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Narcolepsy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Narcolepsy Association, Inc. 425 California St. San Francisco, CA 94104 (415) 788-4793 Narcolepsy Network Box 1365, FDR Station New York, NY 10150 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 752-753. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2065-2066. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1214-1215. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 314-317. NARCOLEPSY UPDATE. J.W. Richardson et al.; Mayo Clin Proc (July 1990; 65(7)). Pp. 991-998. NARCOLEPSY. M.S. Aldrich; Neurology (July 1992; 42(7 Supp 6)). Pp. 34-43. NarcolepsyY4 \4pagetitle 55: Narcolepsy 04039.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 484: Nelson Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Nelson Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Pituitary Tumor after Adrenalectomy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Nelson Syndrome is a disorder characterized by abnormal hormone secretion and enlargement of the pituitary gland (hypophysis). It occurs in 5 to 10 percent of patients following surgical removal of the adrenal glands for Cushing Disease (for more information on this disorder, choose "Cushing" as your search term in the Rare Disease Database). Symptoms include intense skin discoloration (hyperpigmentation), headaches, visual field disturbances and the cessation of menstrual periods in women. Symptoms Symptoms of Nelson Syndrome include intense skin pigmentation, headaches, visual field disturbances and the cessation of menstrual periods in females. Blood levels of the pituitary hormones adrenocorticotrope hormone (ACTH) and beta-melanocyte stimulating hormone (beta-MSH) are abnormally high. The pituitary gland gets abnormally large in Nelson Syndrome, causing headaches and visceral symptoms. Causes Nelson Syndrome can be caused by surgical removal of the adrenal glands on both sides of the body. Removal of the adrenal glands is a treatment for Cushing Syndrome. Following removal of these glands 5 to 10% of cases will develop Nelson Syndrome. Growth of a pre-existing or a concealed (occult) tumor of the pituitary gland may also cause this disorder. Affected Population Nelson Syndrome affects approximately 5 to 10% of people who have undergone surgical removal of their adrenal glands. It affects males and females in equal numbers. Cases caused by tumors are very rare. Therapies: Standard Treatment for Nelson Syndrome consists of radiation to limit abnormal growth of the pituitary gland. If the pituitary gland increases so much in size that it encroaches on surrounding brain structures, it may be surgically removed. Therapies: Investigational Microsurgical removal of Nelson Syndrome's ACTH adenomas through the bone at the base of the skull (transsphenoidal) is an experimental treatment for Nelson Syndrome. More research is needed before this procedure will be deemed acceptable for general use. In another study it was found that treatment with the drugs bromocriptine (a dopamine agonist) and cyproheptadine (a serotonin antagonist) caused a marked drop in plasma ACTH levels stimulated by corticotropin-releasing factor (CRF). However, after a longer period of treatment with cyproheptadine, plasma ACTH levels rose again. Thus the usefulness of the drug appears limited. More research is necessary to determine the safety and effectiveness of these drugs for Nelson Syndrome. This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Nelson Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References TRANS-SPHENOIDAL MICROSURGICAL TREATMENT OF NELSON'S SYNDROME: T. Fukushima; Neurosurg Rev (1985: issue 8(3-4)). Pp. 185-194. EFFECTS OF BROMOCRIPTINE AND CYPROHEPTADINE ON BASAL AND CORTICOTROPIN- RELEASING FACTOR (CRF)-INDUCED ACTH RELEASE IN A PATIENT WITH NELSON'S SYNDROME: Y. Hirata, et al.; Endocrinol Jpn (October 1984: issue 31(5)). Pp. 619-626.... Nelson Syndrome pagetitle 484: Nelson Syndrome 04040.TXT Copyright (C) 1986, 1987, 1989, 1990 National Organization for Rare Disorders, Inc. 151: Nemaline Myopathy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Nemaline Myopathy) is not the name you expected. Please check the SYNONYM listing to find alternate names and disorder subdivisions covered by this article. Synonyms Rod Myopathy Congenital Rod Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Nemaline myopathy is a hereditary muscular disease characterized by weakness and "floppiness" of skeletal muscles. The disease derives its name from the presence of very fine threads or rods called "nemaline rods" in the microscopic muscle fibers. Symptoms Nemaline myopathy is evident from birth. Thighs and upper arms are thin and extremely weak. The muscles of the trunk (i.e., the chest, back, and abdomen) are also weak so that posture may be abnormal. Deep tendon reflexes (such as knee or ankle jerks) may be absent. Muscle tone is very poor, and the muscles are soft and the child seems "floppy". If the muscles involved in swallowing or breathing become severely involved, the disease may be life threatening. Otherwise, the prognosis is indeterminate. The muscular dysfunction progresses during childhood, but overall growth of muscle mass may counterbalance this, so that the condition may improve overall as the child grows. Causes Nemaline Rod Disease is inherited, either through a dominant or recessive mode of transmission. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. The biochemical defect involved is not known, although the nemaline rods suggest an abnormal accumulation of some protein. Related Disorders Nemaline myopathy may occur in the same families as Central core Disease, a milder, less progressive, but similar muscle disease. Therapies: Standard Treatment of Nemaline Myopathy is symptomatic and supportive. Symptoms of the disease often improve as the child gets older. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Nemaline Myopathy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1452. THE METABOLIC BASIS OF INHERITED DISEASE, 6th ed.: Charles R. Scriver, et al.; eds., McGraw Hill, 1989. P. 2892. Nemaline Myopathy pagetitle 151: Nemaline Myopathy 04041.TXT #Copyright (C) 1991 National Organization for Rare Disorders, Inc. 831: Neurasthenia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Neurasthenia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cardiac Neurosis Chronic Asthenia Da Costa's Syndrome Effort Syndrome Functional Cardiovascular Disease Irritable Heart Nervosism Neurocirculatory Asthenia Soldier's Heart Subacute Asthenia Weak Nerves Disorder Subdivisions: Angiopathic Neurasthenia (also called Angioparalytic Neurasthenia, or Pulsating Neurasthenia) Gastric Neurasthenia Neurasthenia Gravis Neurasthenia Precox (or Primary Neurasthenia) Information on the following disorders can be found in the Related Disorders section of this report: Hyperthyroidism Myalgic Encephalomyelitis Myasthenia Gravis Panic-Anxiety Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Neurasthenia is a mental disorder triggered by stress or anxiety. Symptoms may include weakness or fatigue, which may be accompanied by chest pain. A rapid intense heartbeat which may be irregular (palpitations, tachycardia), and/or cold, clammy hands and feet may also be present. Breathing too fast (hyperventilating), feeling dizzy or faint, sighing periodically, or sweating for no apparent reason may also occur. Symptoms Major symptoms of Neurasthenia include a feeling of weakness or fatigue, which may be accompanied by chest pain. A rapid intense heartbeat which may be irregular (palpitations, tachycardia) can occur. The individual may have cold, clammy hands and feet. Hyperventilation causes a dizzy or faint feeling. Sighing periodically, or sweating for no reason are other symptoms of Neurasthenia. It may occur along with or after depression or other psychological disorders. Angiopathic Neurasthenia (also called Angioparalytic Neurasthenia, or Pulsating Neurasthenia) refers to a mild form of Neurasthenia in which the patient feels a pulsing or throbbing sensation throughout the entire body. Gastric Neurasthenia is a mild form of Neurasthenia accompanied by digestive dysfunction and stomach enlargement (distention), and by indigestion (dyspepsia). Neurasthenia Gravis refers to an extreme and persistent form of Neurasthenia. Neurasthenia Precox (or Primary Neurasthenia) tends to occur most often in adolescents and is characterized by nervous exhaustion. Causes Neurasthenia is a mental disorder caused by emotional stress or anxiety. It is not caused by any underlying physical (organic) problems even though physical discomfort can be present. Affected Population Neurasthenia is a fairly common disorder which may occur in childhood, adolescence or adulthood. It affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Neurasthenia. Comparisons may be useful for a differential diagnosis: In Hyperthyroidism, the thyroid gland is overactive and produces an excessive amount of thyroid hormones. Symptoms may include sweating, nervousness, emotional instability, fatigue, insomnia, increased appetite, weight loss, or diarrhea. A rapid heartbeat (tachycardia) or rapid twitching of the muscle of the heart's upper chambers (atrial fibrillation) may occur. Other symptoms may include sensitivity to heat (heat intolerance), trembling of the hands, or muscle weakness. A slight swelling in the neck just below the Adam's apple (due to thyroid gland enlargement), warm smooth skin, or bulging of the eyes (exophthalmos) may be present. In older people depression or heart failure may occur. A blood test for hyperthyroidism can rule it out as a cause for Neurasthenia. (For more information on disorders of the thyroid, choose "thyroid" as your search term in the Rare Disease Database). Myalgic Encephalomyelitis is thought to be an infectious disorder affecting the central, peripheral and autonomic nervous systems and the muscles. Major symptoms may include general exhaustion, headache, muscle pain, weakness, and possible mental changes. The exact cause of this disorder is unknown, but researchers believe a virus associated with an immune system abnormality may be responsible. Adults are most commonly affected, with more cases seen in females than in males. (For more information on this disorder, choose "Myalgic Encephalomyelitis" as your search term in the Rare Disease Database). Myasthenia Gravis (MG) is a chronic neuromuscular disease characterized by weakness and abnormally rapid fatigue of the voluntary muscles, with improvement following rest. Any group of muscles may be affected, but those around the eyes and the muscles used for swallowing are the most commonly involved. In the majority of cases, the course of the disease is punctuated with periods of greater and lesser weakness. Short term aggravation of symptoms can be provoked by a host of factors, including excessive physical activity, emotional upset, menstruation, and pregnancy. Complete spontaneous disappearance of symptoms has been reported in rare instances. (For more information on this disorder, choose "Myasthenia Gravis" as your search term in the Rare Disease Database). The main feature of Panic-Anxiety Syndrome is the recurrence of panic attacks. Psychological symptoms may include intense apprehension, unreasonable fear of dying or impending doom, fear of becoming insane, or dread of losing control of the self. Physical manifestations are generally those commonly associated with panic or anxiety such as difficulty in breathing, irregular heartbeat, sweating, trembling and faintness. In addition, patients may experience chest pain, feelings of unreality, abnormal sensations (burning or pricking), dizziness, or hot and cold flashes. The symptoms usually become apparent in late adolescence or early adulthood. Attacks, which can occur at any time, usually last only minutes, though in rare cases they may last hours. (For more information on this disorder, choose "Panic-Anxiety" as your search term in the Rare Disease Database). Therapies: Standard Testing can be done to rule out any underlying physical (organic) causes that might lead to the symptoms of Neurasthenia. Treatment includes reassuring the patient that the symptoms are not due to any physical (organic) causes. Counseling will be of benefit to the patient in learning how to control feelings of stress and anxiety. If necessary, biofeedback, sedatives or tranquilizers may be prescribed. Therapies: Investigational This disease entry is based upon medical information available through January 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Neurasthenia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Mental Health Association 1021 Prince Street Alexandria, VA 22314 (703) 684-7722 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1322, 1324, 2124-2125, 2286. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 374-375. THE MERCK MANUAL, Volume 1, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp, and Dohme Laboratories, 1987. Pp. 345. FEELINGS OF FATIGUE AND PSYCHOPATHOLOGY: A CONCEPTUAL HISTORY. G.E. Berrios; Compr Psychiatry (Mar-Apr 1990; issue 31 (2)). Pp. 140-151. OLD WINE IN NEW BOTTLES: NEURASTHENIA AND 'ME'. S. Wessely; Psychol Med (Feb 1990; issue 20 (1)). Pp. 35-53. NEURASTHENIA IN THE 1980's: CHRONIC MONONUCLEOSIS, CHRONIC FATIGUE SYNDROME, AND ANXIETY AND DEPRESSIVE DISORDERS. D. B. Greenberg; Psychosomatics (Spring 1990; issue 31 (2)). Pp. 129-137. Neurasthenia $pagetitle 831: Neurasthenia 04042.TXT 3Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 3: Neurofibromatosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Neurofibromatosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Bilateral Acoustic Neurofibromatosis (NF 2) Central Neurofibromatosis (NF 2) Intestinal Neurofibromatosis Elephant Man Disease Mixed central and Peripheral Neurofibromas Neurofibroma, multiple Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome NF NF 1 Recklinghausen's Phakomatosis also known as Phakomatosis Recklinghausen (RF 1) Von Recklinghausen Disease, also known as Recklinghausen's I and Recklinghausen Disease DISORDER SUBDIVISIONS NF 1 NF 2 Information on the following diseases can be found in the Related Disorders section of this report: Acoustic Neuroma McCune-Albright Syndrome Proteus Syndrome Tuberous Sclerosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Neurofibromatosis is a term used to describe what are now known to be two distinctly different disorders: The more common type 1 neurofibromatosis (NF 1), and the less common type 2 (NF 2). Both disorders are inherited through autosomal dominant genes, but the genes involved are on separate chromosomes. Major symptoms include numerous benign tumors (neurofibromas) and discolored spots on the skin. NF 2 causes hearing impairment as well as other symptoms. Symptoms Both types of Neurofibromatosis are characterized by the occurrence of multiple benign (noncancerous) tumors, arising most frequently from the peripheral nervous system. These tumors (neurofibromas) appear on or under the skin or in deeper areas within the body. Symptoms of NF 1 usually appear during childhood. The disease is progressive and tends to become more active at puberty and during pregnancy, although the course and symptoms of NF vary and are unpredictable. Brown spots (cafe-au-lait) on the skin are usually the first sign. These spots measure approximately 0.5 cm in diameter in children and grow to 1.5 cm in diameter in adults. Six or more cafe-au-lait spots (macules) and two or more neurofibromas (tumors) are diagnostic in a child. Freckling under the arm (axillary) or in the area of the groin (inguinal), or two or more small grayish neuromas in the iris of the eye (Lisch nodules) are important diagnostic criteria. Tumors (neurofibromas) occur in NF 1 and can form under the skin or in deeper areas in the body. Pain may or may not occur. Tumors can produce disfigurement and orthopedic problems, including curvature in the spine (scoliosis) and bone loss on the weight bearing long bones of the body (pseudoarthrosis). This can result in the bending or even the fracture of these bones. Sexual development may be delayed or early (precocious) and learning disabilities may occur. Optic tumors (glioma), local or widespread benign tumor-like nodules (hamartomas), and other central nervous system lesions are common. NF 2 develops later than NF 1, usually during the teens or 20's. Fewer cafe-au-lait spots and skin (cutaneous) neurofibromas develop. NF 2 is characterized by progressively enlarging benign tumors in both auditory canals (bilateral acoustic neuromas). It may also be associated with brain and spinal cord tumors. Buzzing and ringing in the ears and eventual loss of hearing occur as result of these neuromas. Causes NF 1 and NF 2 are inherited as autosomal dominant traits; however, about half of all cases are due to new mutations that are not inherited from parents. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. The gene for NF 1 is on chromosome 17 (17q11.2). The gene for NF 2 is on chromosome 22 (22q). The NF2 gene is a new type of tumor suppressor gene that has been associated with the non-inherited as well as inherited forms of cancer. Neurofibromatosis 2 results when the gene is activated. This same gene is also implicated in approximately thirty percent of brain tumors that occur sporadically. The NF2 gene produces a protein termed "merlin" that is an acronym for moesin-ezrin-radaxin-like-protein. These proteins are thought to act like links between proteins in the cell membrane, that hold cells together, and the cytoskeleton, a lattice-work of tiny filaments that act to support the cell. A localized form of neurofibromatosis appears to be caused by a somatic mutation, with little risk of recurrence in offspring. Affected Population Neurofibromatosis affects approximately 100,000 Americans, both male and female. It is estimated that NF 1 affects 1:4,000 individuals; NF 2 affects 1:50,000. Related Disorders Symptoms of the following disorders can be similar to those of Neurofibromatosis. Comparisons may be useful for a differential diagnosis: Acoustic Neuroma is a benign tumor (neuroma) of the 8th cranial nerve. This nerve lies within the internal auditory canal. Symptoms of this disorder include ringing in the ears (tinnitus), hearing loss, or both. The tumor may grow in the direction of the brain stem. Increasing pressure inside the brain may led to personality changes and impaired thinking. As pressure increases on the facial nerve, facial twitching can occur. (For more information on this disorder, choose "Acoustic Neuroma" as your search term in the Rare Disease Database). McCune-Albright Syndrome is a multi-system disorder primarily characterized by abnormal fibrous tissue development (dysplasia) in one or more bones, abnormally early puberty, and brown (cafe-au-lait) spots on the skin. Other symptoms may include an overactive thyroid gland (hyperthyroidism), other endocrine abnormalities, and a variety of bone and soft-tissue tumors. (For more information on this disorder, choose "McCune-Albright" as your search term in the Rare Disease Database). Proteus syndrome is a rare hereditary disorder characterized by abnormal and asymmetric growth. Diverse abnormalities of the skin, face, eyes, ears, lungs, muscles and nerves are present. The symptoms of this disorder become apparent during the first year of life. Skin lesions may occur as well as hemangiomas, lipomas and lymphangiomas. Abnormal growths in the abdominal cavity may occur as well. It was once believed that the broadway show, "The Elephant Man", was based on a person with neurofibromatosis, but it was later discovered that this patient actually had Proteus syndrome. (For more information on this disorder, choose "Proteus Syndrome" as your search term in the Rare Disease Database). Tuberous Sclerosis is a rare disorder characterized by seizures, mental retardation, developmental delay, lesions of the eyes and skin and brain tumors. Seizures, which occur in 90 percent of patients, are often the first symptoms. Abnormalities may be seen on an electroencephalograph (EEG). Approximately 60 to 90 percent of infants have brownish skin spots (hypomelanotic macules) at birth. Fibromas may present on the area around or under the nails (periungual or subungual). (For more information on this disorder, choose "Tuberous Sclerosis" as your search term in the Rare Disease Database). Therapies: Standard Surgical removal of troublesome Neurofibromatosis tumors may be beneficial when they cause discomfort. Physical therapy is occasionally useful and orthopedic devices can improve disabilities in some cases. Other treatment is symptomatic and supportive. Therapies: Investigational Neurofibromatosis research is ongoing in numerous areas including recombinant DNA and nerve growth factor to understand the formation of neurofibromas. Recent genetic studies have led to the development of genetic tests. Once the gene that causes NF 1 and NF 2 can be cloned, research on prevention and new treatments will be pursued. Research Projects: Families with one or more members who have central Neurofibromatosis (NF II) with Bilateral Acoustic Neuromas are being sought for a clinical research study at the National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, MD. The goal of the study is to establish methods for early detection and diagnosis of this type of Neurofibromatosis. Doctors who wish to refer potential candidates or obtain additional information should contact: Dr. Donald Wright Surgical Neurology Branch NINCDS, Bldg. 10A, Rm. 3E68 Bethesda, MD 20892 (301) 496-2921 Researchers are studying learning disabilities and neurological changes in NF children aged birth to eighteen years. A controlled study is underway among children with NF along with siblings who do not have the disorder. Testing is being performed in conjunction with Children's Hospital, Washington, DC. Neurofibromatosis Clinic Children's Hospital 111 Michigan Avenue, NW Washington, DC 20010 (202) 745-2187 Ongoing research is directed toward understanding the genetic changes in tumor formation in Neurofibromatosis. Tissue is requested from any known or suspected malignancy. Samples of neurofibromas from female patients is also requested. Understanding of the genetic basis of tumor formation represents a major step toward a improved diagnosis and treatment of this disorder. Patients undergoing such surgery should contact: Dr. Gary R. Skuse or Dr. Peter T. Rowley University of Rochester Medical Center Division of Genetics Box 641 601 Elmwood Ave. Rochester, NY 14642 (716) 275-3461 This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Neurofibromatosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Neurofibromatosis, Inc. 3401 Woodridge Ct. Mitchellville, MD 20716 (301) 577-8984 National Neurofibromatosis Foundation, Inc. 141 Fifth Ave. New York, NY 10010 (212) 460-8980 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 CLINICAL FACILITIES Massachusetts General Hospital Neurofibromatosis Clinic Department of Neurosurgery 15 Parkman St., Room 312 Boston, MA (617) 726-3776 Att: Robert Marthuza, MD Children's Hospital Neurofibromatosis Clinic 111 Michigan Avenue, NW Washington, DC 20010 (202) 745-2187 Att: Kenneth Rosenbaum, MD Children's Hospital Neurofibromatosis Clinic 34th and Civic Center Blvd., Room 9028 Philadelphia, PA (215) 596-9645 Att: Anna Meadows, MD Baylor College of Medicine Neurofibromatosis Clinic 1 Baylor Plaza Houston, Texas 77030 (713) 799-6103 Att: Vincent Riccardi, MD Mount Sinai School of Medicine Neurofibromatosis Clinic 100th St. and Madison Ave. New York, NY (212) 650-6500 Att: Alan Rubinstein, MD References BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1233-34. CLINICAL REVIEW OF NEUROFIBROMATOSIS, J. Rosner; J Am Optom Assoc (August, 1990, Issue 61 (8)). Pp. 613-618. LISCH NODULES IN NEUROFIBROMATOSIS TYPE I, Marie-Louise E. Lubs, et al.; N Eng J. Med., (May 2, 1991, issue 324 (24)). Pp. 1264-1266.. Pp. 1264-1266. Neurofibromatosis 4pagetitle 3: Neurofibromatosis 04043.TXT #Copyright (C) 1990 National Organization for Rare Disorders, Inc. 763: Neuroleptic Malignant Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Neuroleptic Malignant Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Information on the following diseases can be found in the Related Disorders section of this report: Heat Stroke Tardive Dyskinesia Malignant Hyperthermia Anaphylaxis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Neuroleptic Malignant Syndrome is a potentially fatal reaction to any of a group of antipsychotic drugs or major tranquilizers (neuroleptics). These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental or emotional disorders. Phenothiazines are one type of neuroleptic and may occasionally be prescribed as a treatment for nausea and vomiting. Several of the most commonly prescribed neuroleptics include thioridazine, haloperidol, chlorpromazine, fluphenazine and perphenazine. Major tranquilizers or neuroleptics have a strong effect on thought disturbances associated with paranoid thinking, delusions, anxiety and agitation. Neuroleptic Malignant Syndrome occurs when a person taking these drugs reacts with a high fever and other heart, respiratory and muscle symptoms which is a side effect of these drugs. Symptoms Symptoms of Neuroleptic Malignant Syndrome may include very high fever (102 to 104 degrees F), irregular pulse, accelerated heartbeat (tachycardia), increased rate of respiration (tachypnea), muscle rigidity, altered mental status, autonomic nervous system dysfunction, high or low blood pressure, seizures, tremors and profuse perspiration. Respiratory failure may occur as the result of infection, shock or aspiration. Other symptoms may include liver or kidney failure, abnormally high potassium levels (hyperkalemia), major destruction of skeletal muscle tissue (rhabdomyolysis) or blood clots in veins and arteries. Causes The exact cause of Neuroleptic Malignant Syndrome is not known. Scientists believe that the disorder may be due to a major disturbance of the mechanism that controls normal body temperature. This disturbance may occur when phenothiazines block transmission of the brain chemical (neurotransmitter) dopamine, or when the drug interferes with other neurotransmitters in the brain. This disorder may also be related to Malignant Hyperthermia, a genetic disorder characterized by an abnormal reaction to anesthesia drugs. (See related disorders section for more information about Malignant Hyperthermia.) Affected Population Neuroleptic Malignant Syndrome may affect any individual who is taking phenothiazines. Men appear to be at higher risk than women. Scientists believe that the drugs most commonly involved are the stronger neuroleptic medications including major tranquilizers such as haloperidol, fluphenazine, trifluoperazine and perphenazine. Related Disorders Symptoms of the following disorders can be similar to those of Neuroleptic Malignant Syndrome. Comparisons may be useful for a differential diagnosis: Heat Stroke is a very serious condition characterized by an abrupt and rapid increase in body temperature which may reach as high as 104 to 106 degrees F. Heat stroke usually results from exposure to an extremely hot environment. The skin may become hot, flushed and dry. Rapid loss of fluids may result in the inability to sweat. Sweating is necessary to cool the body. Sweating is necessary to cool the body. There may also be an increase in pulse rate and respiration. The affected individual may become disoriented and eventually experience convulsions or slip into unconsciousness. Measures such as wrapping the individual in cold, wet sheets should be taken immediately to lower body temperature. An individual suffering from heat stroke should be hospitalized as quickly as possible. (For more information on this disorder, choose "Hyperthermia" as your search term in the Rare Disease Database.) Malignant Hyperthermia is a genetic disorder characterized by an abnormal response to muscle relaxants and general anesthesia drugs. Symptoms of Malignant Hyperthermia are apparent only after the patient has been placed under general anesthesia. Along with rapidly elevating body temperature which may rise as high as 110 degrees, muscle rigidity and/or muscle twitching occurs. The patient may also exhibit a very rapid and irregular heartbeat, abnormally low blood pressure, sickly sweet breath, headache, nausea and vomiting. It is not known whether Neuroleptic Malignant Hyperthermia is a variant form of Malignant Hyperthermia, but some researchers have suggested that these disorders may be related. (For more information on this disorder, choose "Malignant Hyperthermia" as your search term in the Rare Disease Database.) Anaphylaxis is an abnormally severe allergic reaction to a substance. Major symptoms may include severe itching, hives, flushing, swelling, vomiting, diarrhea, difficulty breathing and unconsciousness. High fever is not a symptom of this disorder. (For more information on this disorder, choose "Anaphylaxis" as your search term in the Rare Disease Database.) The following disorder may be associated with the extended use of neuroleptic drugs. It is not necessary for a differential diagnosis: Tardive Dyskinesia is a disorder which results from the long-term use of neuroleptic drugs and is characterized by involuntary and abnormal movements of the jaw, lips and tongue. Typical symptoms include grimacing, sticking out the tongue, and sucking or fishlike movements of the mouth. A high percentage of schizophrenic people who have spent long periods of time in mental hospitals taking neuroleptic drugs, have a high risk of developing Tardive Dyskinesia. (For more information on this disorder, choose "Tardive Dyskinesia" for your search term in the Rare Disease Database.) Therapies: Standard Treatment of Neuroleptic Malignant Syndrome consists of withdrawal of neuroleptic medications under a doctor's supervision, prompt and intensive care with adequate hydration and nutrition, and immediate measures to lower body temperature. Medications prescribed as treatment may include dantrolene, bromocriptine, amantadine, cogentin or diazepam. Secondary complications such as decreased alkalinity of the blood and tissues (acidosis), a deficiency of oxygen reaching the tissues (hypoxia), and kidney (renal) insufficiency must be treated independently. Once patients have recovered from Neuroleptic Malignant Syndrome, they are sometimes slowly and cautiously reintroduced to other neuroleptic medications. The patient must be carefully monitored as reoccurrences of Neuroleptic Malignant Syndrome have been reported. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Neuroleptic Malignant Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Mental Health Association 1021 Prince St. Alexandria, VA 22314 National Alliance for the Mentally Ill 1901 N. Ft. Meyer Dr., Suite 500 Arlington, VA 22209 (703) 514-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) Malignant Hyperthermia Association of the U.S. Box 3231 Darien, CT. 06820 References THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 2489-2490. RECURRENCE OF NEUROLEPTIC MALIGNANT SYNDROME. V.L. Susman et al.; J NERV MENT DIS (April, 1988: issue 176 (4)). Pp. 234-241. PATIENTS WITH NEUROLEPTIC MALIGNANT SYNDROME HISTORIES: WHAT HAPPENS WHEN THEY ARE HOSPITALIZED? A.J. Gelenberg et al.; J CLIN PSYCHIATRY (May, 1989: issue 50 (5)). Pp. 18-25. CLINICAL DIFFERENTIATION BETWEEN LETHAL CATATONIA AND NEUROLEPTIC MALIGNANT SYNDROME. E. Castillo et al.; AM J PAYCHIATRY (March, 1989: issue 146 (3)). Pp. 324-328. Neuroleptic Malignant Syndrome %pagetitle 763: Neuroleptic Malignant Syndrome 04012.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 752: Mucha-Habermann Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Mucha-Habermann Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Pityriasis Lichenoides et Varioliformis Acuta PLEVA Information on the following diseases can be found in the Related Disorders section of this report: Vasculitis Gianotti-Crosti Syndrome Varicella-Zoster Virus Erythema Multiforme Pityriasis Rosea General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mucha-Habermann disease is an uncommon skin disorder characterized by recurrent red, round and elevated lesions (papules), hemorrhages under the skin (purpura), and blister-like lesions (vesicles). It occurs most often in young adults and children. Symptoms Mucha-Habermann disease is an uncommon skin disorder that usually occurs during childhood or young adulthood. It is characterized by a recurrent itchy and burning rash that appears red with round and elevated skin lesions (papules), hemorrhages under the skin (purpura), and blister like lesions (vesicles). These lesions usually become scaly, crusted, and can ulcerate leaving scars. Other symptoms associated with this disease may be headache, chills, a feeling of ill-health (malaise), and joint pain (arthralgia). Causes The exact cause of Mucha-Habermann Disease is not known. Some scientists believe it may be an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack healthy tissue. Affected Population Mucha-Habermann Disease is an uncommon skin disorder that affects males and females in equal numbers. It usually occurs in young adults, but it can affect children as well. Related Disorders Symptoms of the following disorders can be similar to those of Mucha-Habermann Disease. They may be useful for a differential diagnosis: Vasculitis is an inflammation of the blood vessel system which includes the veins, arteries and capillaries. Vasculitis can affect the skin causing lesions that are flat and red (macules), nodules, or hemorrhages under the skin (purpura). These lesions can occur on any part of the body. (For more information on this disorder, choose "Vasculitis" as your search term in the Rare Disease Database). Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months to nine years. Major symptoms may include blisters on the skin of the legs, buttocks or arms. This disorder is usually preceded by a viral infection. (For more information on this disorder, choose "Gianotti" as your search term in the Rare Disease Database). Varicella-zoster infection is a herpes virus that causes chickenpox during childhood, and shingles (herpes zoster) during adulthood. It is characterized by a blister-like rash, fever, and sore throat. (For more information on this disorder, choose "Varicella-Zoster" as your search term in the Rare Disease Database). Erythema Multiforme is an inflammatory skin disorder characterized by symmetric red and blistery (bullous) lesions of the skin or mucous membranes of the hands, feet and eyelids. (For more information on this disorder, choose "Erythema Multiforme" as your search term in the Rare Disease Database.) Pityriasis Rosea is a self-limited, mild, inflammatory skin eruption characterized by scaly lesions found most commonly on the trunk. The disorder is possibly due to an unidentified infectious agent. It may occur at any age but is seen most frequently in young adults. In temperate climates, incidence is highest during the spring and autumn. Therapies: Standard Treatment of Mucha-Habermann Disease with the antibiotic drug tetracycline, or corticosteroid or cytotoxic drugs, has provided relief to some people with this disease. Other treatment is symptomatic and supportive. Therapies: Investigational At the present time, a study is being conducted on the effectiveness of the antibiotic drug Erythromycin, and the use of ultraviolet light as treatments for Mucha-Habermann Disease. More research must be conducted to determine the long-term safety and effectiveness of these treatments. This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mucha-Habermann Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, M.D. et al.; ed.-in-chief; W.B. Saunders Co., 1988. Pp. 2328. MUCHA-HABERMANN DISEASE IN CHILDREN -- THE ASSOCIATION WITH RHEUMATIC DISEASES. J. Ellsworth, et al.; J RHEUMATOL (March - April 1982, issue 9 (2)). Pp. 319-324. ULTRAVIOLET LIGHT TREATMENT OF A PATIENT WITH PITYRIASIS LICHENOIDES ET VARIOLIFORMIS ACUTA (MUCHA HABERMAN DISEASE). J. Mackinnon; PHYS THER (October 1986, issue 66(10)). Pp. 1542-1543. CLINICAL AND HISTOLOGIC FEATURES IN PITYRIASIS LICHENOIDES ET VARIOLIFORMIS ACUTA IN CHILDREN. J. Longley, et al.; ARCH DERMATOL (October 1987, issue 123 (10)). Pp. 1335-1339. Mucha-Habermann Disease 96-5k pagetitle 752: Mucha-Habermann Disease 04013.TXT `AMACopyright (C) 1989 National Organization for Rare Disorders, Inc. 688: Mucopolysaccharidosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Mucopolysaccharidosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms MPS MPS Disorder Disorder Subdivisions: MPS I H (Hurler Disease) MPS I S (Scheie Syndrome) MPS I H/S (Hurler/Scheie Syndrome) MPS II-XR, severe (Hunter Syndrome) MPS II-XR, mild (Hunter Syndrome) MPS II-AR, autosomal (Hunter Syndrome) MPS III A, B, C, and D (Sanfilippo A) MPS IV A and B (Morquio A) MPS V (No longer used) MPS VI, severe, intermediate, mild (Maroteaux-Lamy) MPS VII (Sly Syndrome) MPS VIII (No longer used) Information on the following diseases can be found in the Related Disorders section of this report: Pseudo-Hurler Polydystrophy Ganglioside Sialidase Deficiency I-Cell Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. The Mucopolysaccharidoses are a group of hereditary diseases of lysosomal storage. They are characterized by deposits of mucopolysaccharides in the arteries, skeleton, eyes, joints, ears, skin and teeth. These deposits may also be found in the respiratory system, liver, spleen, central nervous system, blood cells and bone marrow. Symptoms MPS consists of a group of hereditary diseases. These diseases are characterized by an abnormal accumulation of mucopolysaccharides, especially in the cartilage and bone tissue. In general these disorders are progressive and usually disabling. The child may appear normal at birth and around the age of one begin to show signs of both growth and mental retardation. After the age of three or four growth may seem to cease. This growth retardation occurs in all of the MPS disorders except the Scheie Syndrome. Many patients develop serious vision and hearing problems. Stiff joints occur in all but the Morquio Syndrome. Excessive hairiness (hirsutism), dwarfism, and heart problems (especially Angina Pectoris) are common features of most of the syndromes. Breathing problems may occur as a result of the narrowing of the airways due to skeletal deformities. The liver and spleen are enlarged in most MPS patients. The central nervous system and brain may also be affected. Disorder Subdivisions: Mucopolysaccharidoses I in the severe form is Hurler Syndrome. It is characterized by high concentrations of dermatan and heparan sulfates, in the urine. Symptoms of the disorder first become evident at six months to two years of age. There is developmental delay, recurrent urinary and upper respiratory tract infections, noisy breathing and a persistent nasal discharge. Swelling of the head (hydrocephalus) is common after the age of two. Other physical problems may include clouding of the cornea of the eye, an unusually large tongue, misaligned teeth, severe deformity of the spine, joint stiffness and clawlike hands. Mental development begins to regress at about the age of two. (For more information on this disorder choose "Hurler" as your search term in the Rare Disease Database.) Scheie Syndrome is the milder form of MPS I. The patient has a normal intelligence, stature and life expectancy, but suffers from physical symptoms such as stiff joints, clouding of the cornea, and the backward flow of blood into the heart (aortic regurgitation). The onset of symptoms in patients with Scheie Syndrome usually occurs after the age of five years. However, diagnosis is commonly delayed to between ten to twenty years of age. (For more information on this disorder choose "Hurler" as your search term in the Rare Disease Database.) Hurler-Scheie Syndrome is an intermediate form of MPS I and is characterized by normal intelligence but progressive physical involvement which is milder than Hurler Syndrome. Corneal clouding, joint stiffness, deafness and valvular heart disease can develop by the early to mid-teens, causing significant impairment. (For more information on this disorder choose "Hurler" as your search term in the Rare Disease Database.) Mucopolysaccharidoses II, Hunter Syndrome, is the most prevalent form of MPS. In the severe form, physical and mental development reach a peak at two to four years with subsequent deterioration. Recurrent urinary and upper respiratory tract infections, a chronic runny nose, liver and spleen enlargement, joint stiffness and growth failure commonly occur. There is coarsening of the facial features with thickening of the nostrils, lips and tongue. Swelling of the head (hydrocephalus) is commonly found in this form of Hunter Syndrome as is thicker than normal skin, short neck, widely spaced teeth, and hearing loss of varying degree. Skin lesions on the arm or the posterior chest wall, extra-high arched feet and diarrhea may also occur. (For more information on this disorder choose "Hunter" as your search term in the Rare Disease Database.) The milder form of Hunter MPS II is characterized by less severe physical deterioration and normal intelligence. Complications of the mild form of the disorder may include heart disease, hearing impairment, reduced circulation and joint stiffness in the hands. (For more information on this disorder choose "Hunter" as your search term in the Rare Disease.) The autosomal form of Hunter MPS II can have a combination of the symptoms of both the severe and mild forms of Hunter Syndrome. (Choose "Hunter" as your search term on the Rare Disease Database.) Mucopolysaccharidosis III is titled Sanfilippo Syndrome and is characterized by progressive mental retardation and the excretion of heparan sulfate in the urine. There is variability in the degree of mental retardation. The patient will usually begin to show hyperactivity and sleep disorders around the age of two or three. The child may be able to start school but will usually become a "behavior problem" and loose the ability to speak. The excretion of heparan sulfate is the strongest evidence of MPS III. MPS III A, B, C, and D range in severity from A the most severe to D the least severe. The means of classification of the various types of MPS III rests in the lack of specific enzymes in the process of eliminating heparan sulfate. Type A lacks the enzyme heparan N-sulfatase. Type B lacks the enzyme acetylated glucosamines initially present in heparan sulfate. Type C lacks the enzyme N-acetyltransferase reaction. Type D lacks the enzyme sulfatase reaction. (For more information on this disorder choose "Sanfilippo" as you search term in the Rare Disease Database.) Mucopolysaccharidosis IV is characterized by the excretion of keratan sulfate in the urine. This syndrome is also known as the Morquio Syndrome. The developmental abnormalities may be detected as early an eighteen months to two years of age. The skeletal abnormalities are milder in Morquio B than in Morquio A. These may include an enlarged head, a broad mouth, prominent cheekbones, an unusually small nose, widely spaced and thinly enameled teeth, and widely separated eyes with corneal clouding. Later, patients tend to develop abnormally short necks, short barrel chests, disproportionately long arms, enlarged and possibly hyperextensible wrists, stubby hands and "knock knees". Together with the misaligned knees and knobby joints, the child may be "pigeon-toed", causing a wobbly gait. There may also be enlargement of the liver, curvature of the spine, heart problems and hearing loss. The intelligence of the patient is usually normal. (For more information on this disorder choose "Morquio" as your search term in the Rare Disease Database.) Mucopolysaccharidosis V, (The Scheie Syndrome) is now designated as MPS I because of the close relationship to the Hurler syndrome. (Choose "Hurler" as your search term in the Rare Disease Database.) Mucopolysaccharidosis VI, also known as Maroteaux-Lamy Syndrome, is classified by severe, mild and intermediate types. It is characterized by growth retardation beginning around two to three years of age. There is a coarsening of facial features and abnormalities in the bones of hands and spine creating a dwarflike appearance. Stiff joints, a hunched spine, prominent chestbone, and pain in the hip bone all tend to appear after the first four years. There may also be noisy and strained breathing, intermittent deafness and an enlarged liver and spleen. (For more information on this disorder choose "Maroteaux" as your search term in the Rare Disease Database.) Mucopolysaccharidosis VII is also called Sly Syndrome. It is characterized by an increased amount of dermatan sulfate and heparan sulfate in the urine. Sly Syndrome usually results in mental retardation. Other symptoms may include short stature and skeletal abnormalities such as joint contractures, dislocated hips, and spinal malformations. The liver and spleen may be enlarged, there may be hernias in the groin and navel areas and there may also be clouding of the cornea of the eye. This type of Mucopolysaccharidoses VII is very rare and affects less than twenty persons worldwide. (For more information on this disorder choose "Sly" as your search term in the Rare Disease Database.) Mucopolysaccharidoses VIII, DiFerrante Syndrome is not a valid disorder, and it is no longer used. Causes All of the MPS diseases result from deficiency of specific lysosomal enzymes involved in the breaking down of dermatan sulfate, heparan sulfate, or keratan sulfate, either alone or together. These mucopolysaccharides accumulate in tissues and organs and are also excreted in the urine. All of these diseases are inherited as autosomal recessive except for the Hunter Syndrome which is X-linked recessive. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population All of the MPS disorders affect males and females in equal numbers with the exception of the Hunter Syndrome which affects only males. Related Disorders Symptoms of the following disorders can be similar to those of MPS. Comparisons may be useful for a differential diagnosis: Pseudo-Hurler Polydystrophy is an autosomal recessive inherited disorder, characterized by onset in childhood, painless joint stiffness, decreased mobility, short stature, some coarseness of the facial features, mild mental retardation, evidence of multiple defective bone formations and aortic valve (heart) disease. (For more information on this disorder, choose "Pseudo-Hurler" as your search term in the Rare Disease Database). Ganglioside Sialidase Deficiency is characterized by a deficiency in the enzyme ganglioside sialidase which causes abnormalities of connective tissue cells, defects of the cornea and retardation of physical and mental development. The first symptom usually is clouding of the eye's cornea. The development of physical and mental retardation usually begins after the child's first year of life. (For more information on this disorder, choose "Ganglioside" as your search term in the Rare Disease Database). I-Cell Disease begins very early in life. By the age of six months children have begun to show symptoms such as coarse facial features (e.g., as depressed nasal bridge), a long and narrow head, excessive hair growth, and a low forehead. They may also show severe skeletal changes including curvature of the spine, a lumbar hump, problems with their vertebra, widening of the ribs, and pointing of the long bones of the hands. Mental and physical retardation is common. Frequent respiratory infections and severe joint contractures occur as do opacities of the cornea of the eye. (For more information on this disorder, choose "I-Cell" as your search term in the Rare Disease Database). Therapies: Standard Treatment of all of the Mucopolysaccharidoses disorders is symptomatic and supportive. If hernias, joint contractures, hydrocephalus and eye problems occur, surgery to correct the problem may be indicated. Physical therapy may also be of benefit. Genetic counseling will be of benefit to families of patients with MPS disorders. Therapies: Investigational Since prenatal diagnosis is possible through the use of amniocentesis and tissue sampling of the embryo, new diagnostic interventions are being developed. Experimental treatments scientists are trying to develop include replacing defective enzymes via enzyme replacement therapy and/or bone marrow transplants. Scientific study of gene replacement in animal models raises the hope that gene replacement therapy may someday be made available to people with serious genetic disorders. This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mucopolysaccharidoses, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 MPS (Mucopolysaccharidoses) Research Funding Center, Inc. 1215 Maxfield Road Hartland, MI 48029 (313) 363-4412 National MPS Society 17 Kramer Street Hicksville, NY 11801 (516) 931-6338 Society of MPS Diseases 30 Westwood Drive Little Chalfont, Bucks, England Society of Mucopolysaccharide Diseases, Inc. 382 Parkway Blvd. Flin Flon, Manitoba, Canada R8A OK4 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., eds.; McGraw Hill, 1989. Pp. 1565-1588. THE MUCOPOLYSACCHARIDOSES AND ANAESTHESIA: A REPORT OF CLINICAL EXPERIENCE. I.A. Herrick, et al.; Can J Anaesth (January, 1988, issue 35 (1)). Pp. 67-73. MUCOPOLYSACCHARIDOSES AND ANAESTHETIC RISKS. P. Sjogren, et al.; Acta Anaesthesiol Scand (April, 1987, issue 31 (3) ). Pp. 214-218. ELECTRORETINOGRAPHIC FINDINGS IN THE MUCOPOLYSACCHARIDOSES. R.C. Caruso, et al.; Ophthalmology (December, 1986, issue 93 (12)). Pp. 1612-1616. Mucopolysaccharidosis PROiB lBpagetitle 688: Mucopolysaccharidosis 04014.TXT LfLCopyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993, National Organization for Rare Disorders, Inc. 15: Multiple Sclerosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Multiple Sclerosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms MS Demyelinating Disease Disseminated Sclerosis Insular Sclerosis Information on the following diseases can be found in the Related Disorders section of this report: Amyotrophic Lateral Sclerosis (ALS) Charcot-Marie-Tooth Disease Dejerine-Sottas Disease Friedreich's Ataxia Guillain-Barre Syndrome Chronic Inflammatory Demyelinating Polyneuropathy Leukodystrophy General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Multiple Sclerosis is a chronic disorder of the central nervous system (CNS) that causes the destruction of the covering (myelin sheath) over the nerves. The course of this disease is variable; it may advance, relapse, remit, or stabilize. The demyelinating plaques or patches scattered throughout the central nervous system interfere with the ability of the nerves to communicate (neurotransmission) and can cause a wide range of neurological symptoms. Symptoms The symptoms of Multiple Sclerosis may vary greatly. Some people may have visual impairment (including blind spots), double vision (diplopia), or involuntary rhythmic movements of the eyes (nystagmus). People with Multiple Sclerosis may also experience impairment of speech, numbness or tingling sensation in the limbs and difficulty walking. Dysfunction of the bladder and bowel may also be present. Multiple Sclerosis is rarely fatal; the average life expectancy is 93 percent of that of the general population. One in 5 Multiple Sclerosis patients experience one attack, followed by little or no advance in the disorder. Two-thirds of patients can walk independently 25 years after diagnosis. Approximately 50 percent of those with Multiple Sclerosis pursue most of the activities they engaged in prior to their diagnosis. In some cases, however, paralysis of different severities may make it necessary to use a cane, crutches, and other aids while walking. In a very small number of cases, the disease accelerates and may result in life-threatening complications. Causes The exact cause of Multiple Sclerosis is not known. An autoimmune association, possibly in a viral or environmental setting, has been suggested. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack perfectly healthy tissue. The human T-lymphotropic virus (HTLV-1) has been proposed as another possible cause. The HTLV-1 virus is a retrovirus that has been associated with other central nervous system disorders and certain blood malignancies. An hereditary predisposition has been suggested, but it seems that other factors need to be present as well. A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease. It has been proposed that a Multiple Sclerosis "susceptibility gene" (MSSG) exists. There is, as yet, no definite genetic pattern that can be discerned. Studies have shown that the siblings of a person with Multiple Sclerosis are at a 10 to 15 percent higher risk of developing the disorder than the general population, whose risk is 0.1 percent. A Canadian study indicated that the daughters of mothers with Multiple Sclerosis have a 5 percent risk of developing the disease. This may be accounted for the by an immune system that may or may not foster the development of the disorder (histocompatible antigens). A 1989 Australian study implied that a virus carried by cats might be responsible. Approximately 7 percent of domestic cats have been shown to have a demyelinating disease that closely resembles Multiple Sclerosis. Both infected cats and patients have been tested and shown to be carrying a morbillivirus (a virus that resembles the measles virus). More research is needed to determine whether this virus has a role in Multiple Sclerosis and if it can be transmitted from cats. Affected Population Multiple Sclerosis affects approximately 58 in every 100,000 people, numbering around 130,000 individuals. The disorder may appear at any age, although the diagnosis is most often made between 20 and 40 years of age. Multiple Sclerosis is more common in Caucasian Americans than in Americans of African or Oriental heritage. In a few ethnic societies (Eskimos, Bantus and American Indians), Multiple Sclerosis is rare or absent. This may hint at a genetic link to this disorder. Multiple Sclerosis seems to occur more often the moderate regions (temperate climates) of the world. Related Disorders Symptoms of the following disorders can be similar to those of Multiple Sclerosis. Comparisons may be useful for a differential diagnosis: Amyotrophic lateral sclerosis (ALS) is a disease of the motor neurons that send signals to the skeletal muscles. It generally affects both the upper and the lower muscle groups and results in the progressive weakness and wasting away of the muscles involved. There are several varieties of Amyotrophic Lateral Sclerosis. The early symptoms may include slight muscular weakness, clumsy hand movements and difficulty performing fine motor tasks. Weakness in the legs may result in clumsiness and tripping, and a slowing of speech may also be present. Other symptoms may include muscle stiffness and coughing. (For more information on this disorder, choose "Amyotrophic Lateral Sclerosis" as your search term in the Rare Disease Database). Charcot-Marie-Tooth Disease (also known as CMT Disease) is a hereditary neurological disorder characterized by muscle weakness and atrophy, primarily in the muscles of the legs. Symptoms of Type I Charcot-Marie-Tooth Disease usually begin in middle childhood or teenage years with a deformity of the foot characterized by a high arch and hyperextension of the toes (gampsodactyl or claw-foot). This produces a "stork leg" deformity. With time, Charcot-Marie-Tooth disease spreads to the upper extremities and produces a "stocking-glove" pattern of diminished sensitivity. There is a decrease in the sensitivity to vibration, pain and temperature. (For more information on this disorder, choose "Charcot-Marie-Tooth Disease" as your search term in the Rare Disease Database). Dejerine-Sottas Disease is a rare progressive hereditary disorder that causes the enlargement of the peripheral nerves and the loss of myelin. This results in a burning or tingling sensation in the limbs, generalized muscle weakness and the loss of coordination in the hands and forearms. Weakness in the back of the legs eventually spreads to the front of the legs resulting in difficulty and pain when walking. Mild vision problems may also be present. (For more information on this disorder, choose "Dejerine-Sottas Disease" as your search term in the Rare Disease Database). Friedrich's Ataxia is a progressive hereditary disorder that affects the neuromuscular system. It is generally diagnosed in childhood or adolescence. There are slow degenerative changes of the spinal cord and the brain that affect speech and motor coordination. These changes may produce an unsteady walk or numbness and weakness in the arms and legs. The legs generally become progressively weaker resulting in a staggering, lurching walk or trembling when standing still. (For more information on this disorder, choose "Friedreich's Ataxia" as your search term on the Rare Disorder Database). Guillain-Barre Syndrome (Acute Idiopathic Polyneuritis) is a rare rapidly progressive polyneuropathy. Although the exact cause is not known, a gastrointestinal virus or respiratory infection precedes the onset of the syndrome in almost half the cases. The myelin sheath that covers the nerves is damaged and results in muscle weakness. The symptoms may include a burning or tingling sensation in the feet followed by weakness of the legs. Eventually the torso, upper limbs and face may be affected. (For more information on this disorder, choose "Guillain-Barre Syndrome" as your search term in the Rare Disease Database). Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is a rare disorder in which there is swelling of the nerve roots and the destruction of the covering (myelin sheath) over the nerves. This causes weakness, paralysis and impairment of motor function especially in the limbs. Symptoms may include burning, numbness or tingling of the hands and feet or the arms and legs. Reflexes may be weakened or absent, and the muscles of the face may become weak. Other symptoms may include difficulty in walking and respiratory problems. (For more information on this disorder, choose "Chronic Inflammatory Demyelinating Polyneuropathy" as your search term on the Rare Disease Database). Leukodystrophy is the name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath that covers the nerve fibers or it may affect the white matter of the brain. Most of the leukodystrophies are present at birth but some may appear more slowly over time and even into adulthood. Leukodystrophy causes the patient to have problems with movement, vision, hearing, feeling and thinking. This can result in difficulty walking, stiffness, a "floppy" feeling in the muscles, paralysis or convulsions. (For more information on this disorder, choose "Leukodystrophy" as your search term on the Rare Disease Database). Therapies: Standard Multiple Sclerosis has no known prevention or cure. Common treatments may include the administration of ACTH (adrenocorticotropic hormone), prednisone or other corticosteroid drugs to help reduce the severity of recurrent attacks. These drugs do not slow down or stop the progression of this disorder. A wide variety of drugs are prescribed to treat symptoms. These may include muscle relaxants and anticonvulsants to help reduce muscle spasms. Antidepressants, aspirin or acetaminophen may also help ease pain. Physical therapy and exercise programs (especially aquatic or water therapy) may be of value in some patients. Therapies: Investigational Research into the treatment of Multiple Sclerosis is vigorously underway. The drug cyclophosphamide is being tested and some patients experience temporary beneficial effects. Maintenance booster shots of cyclophosphamide are now being tested to see if these effects can be prolonged. Beta-interferon injections given directly into the spinal canal (intrathetically) appear to cut the rate of progressive recurrent episodes in half for some Multiple Sclerosis patients in experimental trials. Other trials are underway using blood plasma replacement (plasmapheresis) in Multiple Sclerosis. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is transfused back into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Multiple Sclerosis. Also under study is the use of monoclonal antibodies, alpha-interferon, amantadine, and the anti-gout drug colchicine for use in the treatment of Multiple Sclerosis. A two-year clinical trial of the orphan drug copolymer I (COP-1), a synthetic polypeptide developed in Israel indicated that in fifty patients with relapsing-remitting Multiple Sclerosis the average number of attacks per patient was significantly lower for the group treated with copolymer I. An International trial of several hundred patients is currently underway. This orphan drug is manufactured by Lemmon Pharmaceuticals, P.O. Box 904, Sellersville, PA, 18960. This drug is currently available under a "Treatment IND" to patients who are not in a clinical trial. Contact Lemmon Pharmaceuticals for more information. Intravenous injection of 4-aminopyridine is also being studied in the hope that this drug may be capable of improving conduction in demyelinated nerve pathways. Twelve Multiple Sclerosis patients were treated at Rush Medical College in Chicago with 4-aminopyridine. Of the twelve patients treated, ten showed varying degrees of improvement in vision, eye movement, coordination and walking. These effects lasted for about four hours. More study of this drug is needed to determine its safety and find a way to prolong its effects. Studies of hyperbaric oxygen treatment for Multiple Sclerosis has led to the conclusion that it is not helpful in the management of this disorder. Researchers working with specific antibody treatments (monoclonal antibodies) are trying to find a way to halt disease progression in Multiple Sclerosis patients. These antibodies may block the autoimmune process of Multiple Sclerosis, and appear to have caused no adverse effects in initial clinical testing. One promising candidate is an antibody to the immune response antigen, which may interrupt the symptoms of the disorder but leave the immune system intact. Chimeric M-T412 (Human Murine) IgG monoclonal Anti-CD4 is one of these new antibody treatments being tested. It is manufactured by Centocor, Inc., 244 Great Valley Parkway, Malvern, PA, 19355. Another biologic agent being tested for the treatment of Multiple Sclerosis is Myelin, developed by Autoimmune, Inc., 75 Francis St., Boston, MA, 02115. Other research is aimed at immune suppressing drugs. Recent research, however, on the use of Cyclosporine (an immune suppressant prescribed for organ transplant patients to avoid rejection of a transplanted organ) has indicated that the therapeutic dose required for Multiple Sclerosis patients is much to high. This can lead to unacceptable side effects. The orphan drug Betaseron is being tested on patients with a relapsing and remitting form of Multiple Sclerosis. Betaseron is manufactured by Triton Biosciences. More research is needed to determine if Betaseron (a form of beta-interferon) will be a safe and effective treatment for Multiple Sclerosis. Infusion of the drug Baclofen by a surgically implanted pump is being studied by scientists for the treatment of spasticity associated with Multiple Sclerosis. Infusion of the drug directly into the spinal space, rather than oral administration, seems to provide patients with better relief of spasticity and may improve muscle tone for longer periods of time. Smaller quantities of Baclofen seem to be needed when it is infused rather than given orally. More research is needed to provide evidence of the safety and effectiveness of this type of Baclofen administration. Alpha interferon has been used experimentally on people with Multiple Sclerosis. Preliminary evidence suggests that alpha interferon may delay attacks, leading to progressively fewer attacks of Multiple Sclerosis in some people. Radiation treatments are being used experimentally to reduce tissues that produce T cells (cells that are produced in the bone marrow and mediate immune responses) in Multiple Sclerosis patients. Lymphoid irradiation is directed at the spleen and lymph nodes in the neck, armpit, chest, abdomen and groin. Elan Drug Co., is testing EL-970 as a treatment for Multiple Sclerosis. It is hoped that this drug may improve nerve conduction in a number of Multiple Sclerosis patients, increasing their visual and motor abilities. EL-970 was licensed from Rush-Presbyterian-St. Lukes Medical Center in Chicago. Researchers at the University of Pennsylvania are studying the use of Photopheresis as a treatment for Multiple Sclerosis. Photopheresis has been used to treat other types of diseases such as cancer and skin problems. In this method of treating the blood, the drug 8-MOP is given to the person orally. Then the blood is removed and radiated with ultraviolet light, and then returned to the body. The patient does not receive radiation, but the treated blood's cell structure is altered to stimulate the immune system. It is hoped that this may lead to an increase the body's defense against Multiple Sclerosis. Clinical trials are underway to study the role of T-cell receptor repertoire in Multiple Sclerosis. Interested persons may wish to contact: Dr. David H. Mattson University of Rochester 601 Elmwood Ave., Box 605 Rochester, NY 14642 (716) 275-7854 This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Multiple Sclerosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Multiple Sclerosis Society maintains over 120 chapters throughout the United States which provide direct services to people with MS and their families, including occupational and physical therapy, support groups, clinics, and professional and public education. Information about chapters can be obtained from the national office. National Multiple Sclerosis Society, National Headquarters 733 Third Ave. New York, NY 10017-3288 (212) 986-3240 (800) 624-8236 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 317-318. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2196-2102. INTRATHECAL BACLOFEN FOR SEVERE SPASTICITY, R.D. Penn, et al.; New Eng J Med (June 8, 1989, issue 320 (23)). Pp. 1517-1521. TREATMENT OF MULTIPLE SCLEROSIS WITH HYPERBARIC OXYGEN. RESULTS OF A NATIONAL REGISTRY, E.P. Kidwell et al.; Arch Neurol (Feb. 1991; 48(2)): Pp. 195-199. THE SUPRASPINAL ANXIOLYTIC EFFECT OF BACLOFEN FOR SPASTICITY, S.R. Hinderer; Am J Med Rehabil (Oct. 1990; (69(5)): Pp. 254-258. HIGH DOSE ORAL BACLOFEN: EXPERIENCE IN PATIENTS WITH MULTIPLE SCLEROSIS, G.D. Ehrlich et al.; Neurology (March 1991; (41(3)): Pp. 335-43.3)): Pp. 335-43. Multiple Sclerosis Mpagetitle 15: Multiple Sclerosis 04015.TXT &Copyright (C) 1988, 1989, 1990 National Organization for Rare Disorders, Inc. 552: Multiple Sulfatase Deficiency _________________________ ** IMPORTANT ** It is possible the main title of the article (Multiple Sulfatase Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms DOC 13 (Multiple Sulfatase Deficiency) Disorder of Cornification 13 (Multiple Sulfatase Deficiency) Mucosulfatidosis Multiple Sulfatase Deficiency Syndrome Sulfatidosis, Juvenile, Austin Type Information on the following disorders can be found in the Related Disorders section of this report: Maroteaux-Lamy Syndrome (Arylsulfatase-B Deficiency; Mucopolysaccharidosis VI; Polydystrophic Dwarfism) Metachromatic Leukodystrophy (Arylsulfatase-A Deficiency; Metachromatic Form of Diffuse Cerebral Sclerosis; Cerebroside Sulfatase Deficiency; Metachromatic Leukoencephalopathy; Sulfatide Lipidosis; Sulfatidosis) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Multiple Sulfatase Deficiency is a very rare hereditary metabolic disorder characterized by impairment of all known sulfatase enzymes. Major symptoms include coarse facial features, deafness, and an enlarged liver and spleen (hepatosplenomegaly). Abnormalities of the skeleton may occur such as curvature of the spine (lumbar kyphosis) and in the breast bone. The skin is usually dry and scaly (ichthyosis). Before symptoms are noticeable, children with this disorder usually develop more slowly than normal. They may not learn to walk or speak as quickly as other children. Symptoms Symptoms of Multiple Sulfatase Deficiency usually start during the first or second year of life. Children with this disorder usually have coarse facial features and they are often deaf. The liver and spleen are usually enlarged. Curvature of the lower portion of the spine, and an abnormal breast bone usually also occur. In addition, the skin is dry, scaly and itchy (ichthyosis). Development is usually delayed in children with this disorder. Children with Multiple Sulfatase Deficiency may not walk normally and their speech is usually impaired. Laboratory tests show abnormalities in cells of the bone marrow and in white blood cells. The bone behind the nasal bones (sella turcica) is J-shaped and the little bones of fingers and toes (phalanges) are broader than normal. Levels of dermatan sulfate and heparan sulfate in the urine are higher than normal. A deficiency of several enzymes (arylsulfatase A, B, and C, two steroid sulfatases and four other sulfatases) occurs. In normal concentration, these enzymes are needed to break down certain carbohydrates known as "mucopolysaccharides". Causes Multiple Sulfatase Deficiency is a hereditary disorder transmitted through autosomal recessive genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Symptoms are caused by a deficiency of the enzyme arylsulfatase A, B, and C, 2 steroid sulfatases, and 4 other sulfatases that are needed for the breakdown of certain carbohydrates known as "mucopolysaccharides". Affected Population Multiple Sulfatase Deficiency is present at birth, although symptoms of this disorder don't become noticeable until the first or second year of life. It is a very rare disorder affecting males and females in equal numbers. Related Disorders Symptoms of the following disorders can resemble those of Multiple Sulfatase Deficiency. Comparisons may be useful for a differential diagnosis: Maroteaux-Lamy Syndrome (Arylsulfatase-B Deficiency; Mucopolysaccharidosis VI; Polydystrophic Dwarfism) is a form of mucopolysaccharidosis. These are a group of genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize certain complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of symptoms. This syndrome can occur as a severe type, an intermediate type, and a mild type. Growth retardation generally occurs from 2-3 years of age, with coarsening of facial features and abnormalities in the bones of hands and spine. Joint stiffness also occurs. The intellect is usually normal. (Choose "Maroteaux-Lamy" as your search term in the Rare Disease Database.) Metachromatic Leukodystrophy (Arylsulfatase-A Deficiency; Metachromatic Form of Diffuse Cerebral Sclerosis; Cerebroside Sulfatase Deficiency; Metachromatic Leukoencephalopathy; Sulfatide Lipidosis; Sulfatidosis) is a hereditary disorder transmitted through autosomal recessive genes. It affects the brain and spinal cord. The disorder is characterized by progressive paralysis and dementia. It can appear in a late infantile, juvenile, or an adult form. (Choose "Metachromatic Leukodystrophy" as your search term in the Rare Disease Database.) Ichthyosis can be a symptom of Multiple Sulfatase Deficiency. "Ichthyoses" or "Disorders of Cornification" are general terms describing a group of scaly skin disorders. They are characterized by an abnormal accumulation of large amounts of dead skin cells (squames) in the top layer of the skin. The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of skin cells known as "corneocytes" or of the fat-rich matrix around these cells. The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (Use "Ichthyosis" as your search term in the Rare Disease Database.) Therapies: Standard Treatment for the symptoms of skeletal abnormalities in Multiple Sulfatase Deficiency is symptomatic and supportive. An orthopedist can provide treatment for curvature of the spine. Dermatologic symptoms (ichthyosis) are treated by applying skin softening (emollient) ointments, preferably plain petroleum jelly. This can be especially effective after bathing while the skin is still moist. Salicylic acid gel is another particularly effective ointment. The skin should be covered at night with an airtight, waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Multiple Sulfatase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THERAPEUTIC ACTIVITY OF LACTATE 12% LOTION IN THE TREATMENT OF ICHTHYOSIS. ACTIVE VERSUS VEHICLE AND ACTIVE VERSUS A PETROLEUM CREAM: M. Buxman, et al.; Journal Am Acad Dermatol (December 1986: issue 15(6)). Pp. 1253-1258. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 888-889. VARIOUS SULFATASE ACTIVITIES IN LEUKOCYTES AND CULTURED SKIN FIBROBLASTS FROM HETEROZYGOTES FOR THE MULTIPLE SULFATASE DEFICIENCY (MUCOSULFATIDOSIS): Y. Eto, et al.; Pediatr Res (February 1983: issue 17(2)). Pp. 97-100. MULTIPLE DEFICIENCY OF MUCOPOLYSACCHARIDE SULFATASES IN MUCOSULFATIDOSIS: R. Basner, et al.; Pediatr Res (December 1979: issue 13(12)). Pp. 1316-1318. Multiple Sulfatase Deficiency ) 651' 4'pagetitle 552: Multiple Sulfatase Deficiency 04016.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 741: Mumps _________________________ ** IMPORTANT ** It is possible that the main title of the article (Mumps) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Parotitis Infective Parotitis Information on the following diseases can be found in the Related Disorders section of this report: Meningitis Orchitis Arthritis, Infectious Oophoritis Pancreatitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mumps is an acute viral illness that causes a painful inflammation and swelling of the saliva glands. These glands include the parotid, submaxillary, sublingual and buccal salivary glands. Mumps used to be a common infectious disease of childhood until a vaccine was developed in 1967 to immunize children against the virus that causes the disorder. However, recent outbreaks of mumps among adolescents and young adults have raised questions about lifetime immunity from the vaccine. Symptoms Mumps is a very contagious viral illness that has an incubation period of about 14-24 days after exposure. The onset of this illness is characterized by headache, loss of appetite, a general feeling of ill-health (malaise), and a low to moderate fever. Within 24 hours the temperature may suddenly rise to about 104 degrees Fahrenheit and be associated with a painful swelling of the parotid glands in front of the ears and under the jaw. In most cases, the salivary glands on both sides of the jaw are affected. The submaxillary and sublingual glands (principally in the floor of the mouth) and the buccal glands (that are scattered beneath the mucous membranes of the cheeks) may also be swollen and tender. The skin over the affected area may be stretched, opening the mouth can be difficult, and there may be a sensitivity to pressure on the jaw. Chewing and swallowing is painful and foods that are sour or acidic should be avoided. The disease lasts between 5 to 6 days and usually results in a lifelong immunity to the virus. Mumps can involve other organs especially in those people past puberty. Males who contract mumps can develop a painful inflammation of the testes. This inflammation can damage the testes and may cause sterility. Females with mumps can develop inflammation of the ovaries (oophoritis). Causes Mumps is a contagious disease that is caused by a virus. It is transmitted through saliva by direct contact, or in the form of airborne droplets from the nose, throat or mouth. The virus enters the body through the upper respiratory tract. Affected Population Since the mumps vaccine was developed in 1967, this disorder has become an uncommon viral disease. It affects males and females in equal numbers. If a person is not immunized against mumps the disease will occur most often in children between the ages of five and fifteen, but adults can also be affected. In recent years there have been outbreaks of mumps on college campuses in the United States which has raised question about long-term immunity from the mumps vaccine. The Centers for Disease Control (CDC) is trying to determine whether people during specific years should be re-vaccinated. Related Disorders People with Mumps may develop the following disorders as a complication of this disease: Infectious Arthritis may occur as a complication of mumps. It is characterized by fever, chills, general weakness and headaches, followed by inflammation of one or more joints. The affected joint or joints often become painful, swollen, slightly red, and stiff within hours or days. (For more information on this disorder, choose "Arthritis, Infectious" as your search term in the Rare Disease Database). Meningioencephalitis can be a complication of mumps. It is characterized by inflammation of the membranes (meninges) around the brain or spinal cord and also the brain tissue. It can begin suddenly (acute) or develop gradually (subacute). (For more information on this disorder, choose "Meningitis" as your search term in the Rare Disease Database). Orchitis causes very painful swelling of the testes, headache, nausea and vomiting. This infection can cause damage to the testes which may include wasting (atrophy) and sterility. Oophoritis is a painful inflammation of the ovaries. It is characterized by lower abdominal pain, vaginal discharge or irregular bleeding. Excessive menstrual bleeding may also be symptomatic of this disorder. Pancreatitis is an inflammation of the pancreas. Pancreatitis can be caused by many different conditions or infections including mumps. The pancreas produces enzymes to help break down carbohydrates and proteins during digestion. It is characterized by nausea and vomiting, fever, chills, severe abdominal pain and abdominal distention. Therapies: Standard Mumps is a self-limiting disease that requires little or no treatment. A soft, bland diet may help the pain caused by chewing. Acetaminophen (e.g.,Tylenol), given every 4 hours, will help reduce the fever and pain. Aspirin should NOT be given to children with Mumps because it can cause Reye's Syndrome. (For more information on this disorder, choose "Reye Syndrome" as your search term in the Rare Disease Database.) Cases of the Mumps have been greatly reduced with the introduction of the live attenuated mumps virus vaccine in 1967. All children should be immunized with this vaccine. It can be given singularly or together with the measles and rubella vaccine (MMR), around 15 months of age. Because of recent outbreaks of measles, mumps, and rubella in those persons previously immunized, lifetime immunity with only one vaccination is in question. It may be advisable to ask a pediatrician whether a second immunization be given before entering school. Adults who have been exposed to mumps or question their immunity to the mumps virus, should consider being immunized as a precaution. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mumps, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road NE Atlanta, GA 30333 (404) 329-3534 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1580-1582. THE MERCK MANUAL, Volume 2, 14th Ed.: Robert Berkow, M.D., ed-in-chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 2039-2041. MUMPS IN THE WORKPLACE. FURTHER EVIDENCE OF THE CHANGING EPIDEMIOLOGY OF A CHILDHOOD VACCINE-PREVENTABLE DISEASE. K. Kaplan, et al.; JAMA (September 9, 1988; issue 260(10)). Pp. 1434-1438. A LARGE OUTBREAK OF MUMPS IN THE POSTVACCINE ERA. M. Wharton, et al.; J INFECT DIS (December 1988; issue 158(6)). Pp. 1253-1260. ADULT IMMUNIZATION. J. Korn, et al.; PRIM CARE (March 1989; issue 16(1)). Pp. 177-196. IMMUNIZATIONS DURING THE ADOLESCENT YEARS. R. Brookman; PRIM CARE (March 1987; issue 14(1)). Pp. 25-39. VACCINE PREVENTABLE DISEASES ON COLLEGE CAMPUSES: THE EMERGENCE OF MUMPS. W. Williams, et al.; J AM COLL HEALTH (March 1989; issue 37(5)). Pp. 197-203. Mumps !pagetitle 741: Mumps 04017.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 139: Muscular Dystrophy, Batten Turner _________________________ ** IMPORTANT ** It is possible the main title of the article (Batten Turner Muscular Dystrophy Syndrome) is not the name you expected. Please check the SYNONYMS listing to find alternate names and disorder subdivisions covered by this article. Synonyms Benign Congenital Muscular Dystrophy Syndrome BTMD Batten Turner Muscular Dystrophy Syndrome Batten Turner Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about the disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Batten Turner Muscular Dystrophy Syndrome is a benign congenital form of muscular dystrophy characterized by frequency in stumbling and falling in early childhood. Unlike the Duchenne variety of muscular dystrophy which typically is present in young boys, Batten Turner Syndrome affects both sexes. Symptoms Batten Turner Muscular Dystrophy Syndrome usually follows the myopathic pattern of muscular disease manifesting itself in early childhood. Symptoms may first appear as a floppiness in infancy. This is followed by frequent falling and stumbling which are associated with a mild muscular weakness and generalized loss of muscle tone (hypotonia). There may be a slight delay on reaching milestones or early motor development. In particular, the pelvic girdle, neck and shoulder girdle may be affected. Although walking usually becomes normal later in life, there may be a residual handicap in the performance of physical activities. Fractures and paralysis are not a problem. Causes The precise cause of Batten Turner Muscular Dystrophy is not known. However, the disorder may be inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the other. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Batten Turner Muscular Dystrophy Syndrome affects infants and young children. Both sexes are equally affected. Therapies: Standard Patients with Batten Turner Muscular Dystrophy should be encouraged to exercise. It is important to guard against obesity. The prognosis is favorable with minimal muscular deficiency. Quite often, the patient encounters no major physical handicaps. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Batten Turner Muscular Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 0QP 01-720-8055 Society for Muscular Dystrophy International P.O. Box 479 Bridgewater, Nova Scotia, Canada B4V 2X6 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2272-5. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1451. Muscular Dystrophy, Batten Turner pagetitle 139: Muscular Dystrophy, Batten Turner 04018.TXT !l!Copyright (C) 1989 National Organization for Rare Disorders, Inc. 598: Muscular Dystrophy, Becker _________________________ ** IMPORTANT ** It is possible that the main title of the article (Becker Muscular Dystrophy) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms BMD Progressive Tardive Muscular Dystrophy Benign Juvenile Muscular Dystrophy Information on the following diseases can be found in the Related Disorders section of this report: Duchenne Muscular Dystrophy Leyden-Moebius Muscular Dystrophy Gower's Muscular Dystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Becker Muscular Dystrophy is a rare inherited muscle wasting disease usually beginning during the second or third decade of life. This slowly progressive disorder affects males almost exclusively. Muscles of the hips and shoulders are weakened, walking abnormalities develop, and mild mental retardation may be present. Eventually, other more severe symptoms may involve the heart and lungs. Symptoms Becker Muscular Dystrophy (BMD) is characterized by slowly progressive weakness of the hip and shoulder muscles. These muscles tend to be firm and rubbery. Deep tendon reflexes may be lost early in the course of this disorder. Ability to walk is affected, and mild mental retardation may be present. Joint contractures, curvature of the spine (scoliosis), restrictive lung disease, and in rare cases heart problems, can develop with time. Female carriers of BMD are usually not affected, although most have an elevated creatine phosphokinase (CPK) concentration in the blood system. Causes Becker Muscular Dystrophy (BMD) is inherited as an X-linked recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Scientists recently discovered the specific protein deficiency that causes symptoms of this disorder. The protein is known as dystrophin. Symptoms result when the body produces either too little or an abnormal form of this protein. About 30% of Muscular Dystrophy cases have no history of the disease in their family. It was difficult to diagnose these people until a test to detect dystrophin in muscles was developed. The cause of spontaneous (non-genetic) cases of Muscular Dystrophy is still unknown. Affected Population Becker Muscular Dystrophy (BMD) affects males almost exclusively. Females are usually not affected, although they may carry the genetic trait. This disorder occurs in approximately one in 30,000 live births. Related Disorders Symptoms of the following disorders can be similar to those of Becker Muscular Dystrophy (BMD). Comparisons may be useful for a differential diagnosis: Duchenne Muscular Dystrophy (DMD) is the most rapidly progressive form of muscular dystrophy and one of the most common. This muscle-wasting disorder, which affects boys almost exclusively, typically begins between the ages of two and five and progresses rapidly. The protein known as dystrophin which causes symptoms of DMD is the same as that of Becker Muscular Dystrophy (BMD). However, BMD patients produce too little or an abnormal form of dystrophin whereas DMD patients do not produce any of this protein. Leyden-Moebius Muscular Dystrophy (Limb-Girdle Muscular Dystrophy) is a progressive disorder that usually begins during pre-adolescence. The pelvic area is the most severely affected with weakness and muscular deterioration. Muscles of the face, shoulders and arms are also affected. This disorder is inherited by a different mode of transmission than that of Becker Muscular Dystrophy. Gower's Muscular Dystrophy is a rare, slowly progressive weakness that begins in the hands and feet, then extends to other nearby areas of the body causing only moderate weakness. This disorder usually begins during adulthood. (For more information on these disorders, choose "muscular dystrophy" as your search term in the Rare Disease Database.) Therapies: Standard At this time, no specific treatment exists for Becker Muscular Dystrophy (BMD). However, exercise combined with physical therapy and orthopedic devices may benefit most patients. Genetic counseling may be of benefit for patients and their families because genetic tests are available to identify this disorder. Other treatment is symptomatic and supportive. Tests are available to detect Muscular Dystrophy prenatally and postnatally. The prenatal test is a genetic test to learn if a person is carrying the MD gene. Postnatal tests use antidystrophin antibodies which allow detection of dystrophin in muscle tissue. People with Duchenne Muscular Dystrophy are deficient in dystrophin, while those with Becker Muscular Dystrophy have a dystrophin molecule that is either smaller or larger than normal, but present in normal quantities in the muscles. Therapies: Investigational The gene abnormality which causes Becker Muscular Dystrophy (BMD) and the protein deficiency linked to symptoms have both been identified. Researchers hope to learn how they may alter this process, thus curing or treating this disorder in the future. This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Becker Muscular Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 0QP 01-720-8055 Society for Muscular Dystrophy International P.O. Box 479 Bridgewater, Nova Scotia, Canada B4V 2X6 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References PREFERENTIAL DELETION OF EXONS IN DUCHENNE AND BECKER MUSCULAR DYSTROPHIES: S.M. Forrest, et al.; Nature (October 15-21, 1987, issue 329 (6140)). Pp. 638-640. EVALUATION OF CARRIER DETECTION RATES FOR DUCHENNE AND BECKER MUSCULAR DYSTROPHIES USING SERUM CREATINE-KINASE (CK) AND PYRUVATE-KINASE (PK) THROUGH DISCRIMINANT ANALYSIS: M. Zatz, et al.; Am J Med Genet (October 1986, issue 25(2)). Pp. 219-230. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1427-1428. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2238-2239. Muscular Dystrophy, Becker "pagetitle 598: Muscular Dystrophy, Becker 04019.TXT 'Copyright (C) 1985, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 37: Muscular Dystrophy, Duchenne _________________________ ** IMPORTANT ** It is possible that the main title of the article (Muscular Dystrophy, Duchenne) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Pseudohypertrophic Muscular Dystrophy Childhood Muscular Dystrophy DMD Muscular Dystrophy, Classic X-linked Recessive Progressive Muscular Dystrophy of Childhood Information on the following diseases can be found in the Related Disorders section of this report: Glycerol Kinase Deficiency Muscular Dystrophy, Batten Turner General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Duchenne Muscular Dystrophy is a rare inherited neuromuscular disorder and one of the most prevalent types of muscular dystrophy. This disorder is characterized by rapid progression of muscle degeneration which occurs early in life. Almost all affected children are male. Symptoms Duchenne Muscular Dystrophy is a rare inherited disorder characterized by progressive muscle weakness. Early symptoms usually begin between the ages of 2 to 5 years. Muscle wasting is initially limited to the shoulder and pelvic areas. Infiltration of fat and connective tissue into the muscles may produce an enlargement (hypertrophy) of the calf muscles in the legs. Within several years Duchenne Muscular Dystrophy affects the muscles of the upper trunk and arms. Eventually all the major muscles are affected. The early symptoms of Duchenne Muscular Dystrophy may include falling, a waddling walk (gait) and awkwardness. Generally these earliest signs are attributed to clumsiness. By the age 3 to 5 years, generalized muscle weakness becomes more obvious. Parents may be falsely encouraged by a seeming improvement between the ages of 3 and 7, but this may be due to natural growth and development. Weakness progresses rapidly after age 8 or 9, resulting in the inability to walk or stand alone. Leg braces may make walking possible for a year or two, but by early adolescence walking becomes impossible. In the late stages of Duchenne Muscular Dystrophy there is a noticeable shortening of muscles and the loss of muscle tissue. This may result in the inability to move the major joints of the body (fixed contractures). There may also be a noticeable increase in the curvature of the spine (scoliosis). Lung capacity may decrease, resulting in an increased susceptibility to respiratory infections. Tests are available to detect muscular dystrophy either before or after birth. The prenatal genetic test determines whether the fetus is carrying the Duchenne Muscular Dystrophy gene. The postnatal test uses antidystrophin antibodies to locate dystrophin in muscle tissue. Dystrophin is a protein normally found in muscles. People with Duchenne Muscular Dystrophy are deficient in dystrophin whereas people with Becker Muscular Dystrophy have a normal amount of dystrophin in the tissue, but the molecule is abnormally small or large. People with Becker Muscular Dystrophy generally have the same symptoms as those with Duchenne Muscular Dystrophy. However, the symptoms of Becker Muscular Dystrophy generally appear later in life than those of Duchenne Muscular Dystrophy, and they do not progress as quickly. Causes Duchenne Muscular Dystrophy is a rare neuromuscular disorder that is inherited as an X-linked recessive trait. The gene that is responsible for this disorder has been identified on the short arm of the X chromosome. Symptoms develop due to a lack of the protein dystrophin in the muscles. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions that are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Approximately 30 percent of patients with Duchenne Muscular Dystrophy have no family history of the disorder. This can mean that the genetic mutation is new in those families (spontaneous). The disorder is diagnosed by finding a deficiency of dystrophin in the muscles. Affected Population All of the muscular dystrophies combined together affect approximately 40,000 people in the United States. Duchenne Muscular Dystrophy is one of the most prevalent forms of Muscular Dystrophy. This type of Muscular Dystrophy affects males almost exclusively. It is estimated that approximately 1 in every 4,000 newborn males has Duchenne Muscular Dystrophy in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Duchenne Muscular Dystrophy. Comparisons may be useful for a differential diagnosis: Glycerol Kinase Deficiency is a rare inborn error of metabolism that produces adrenal cortical insufficiency and adrenal atrophy. The major characteristics of this disorder are muscular weakness and developmental delays. The muscle atrophy seen in Glycerol Kinase Deficiency is almost indistinguishable from that in Duchenne Muscular Dystrophy. Many patients have muscle wasting and weakness with elevated creatine kinase levels that can be identified through laboratory tests. Batten Turner Muscular Dystrophy is a rare form of muscular dystrophy that is present at birth. The initial symptoms of this disorder in the infant may be a generalized "floppiness" and lack of muscle tone (hypotonia). Later muscular weakness may make the child prone to falling and stumbling. Early motor development and milestone achievements may be minimally delayed. As a rule, walking becomes normal later in life, but physical activities may be hampered. (For more information on this disorder, choose "Batten Turner Muscular Dystrophy" as your search term in the Rare Disease Database). Therapies: Standard Treatment for Duchenne Muscular Dystrophy is symptomatic and supportive. Physical therapy and orthopedic devices can alleviate some of the symptoms of this disorder. Therapies: Investigational The gene that is defective in people with Duchenne Muscular Dystrophy appears to serve as the blueprint for the manufacture of the protein dystrophin in muscle tissue. Symptoms occur when dystrophin is completely absent from the muscles. With this knowledge, scientists are investigating how to replace dystrophin in the body of people with Duchenne Muscular Dystrophy. Scientists are studying the use of the corticosteroid drug, prednisone, as a treatment for Duchenne Muscular Dystrophy. Preliminary results suggest that prednisone improves muscle strength in patients affected by this disorder. It is not yet clear whether prolonged treatment with corticosteroids will be safe and effective since these drugs can have severe side effects. This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Duchenne Muscular Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3561 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 OQP 01-720-8055 Society for Muscular Dystrophy International P.O. Box 479 Bridgewater, Nova Scotia, Canada B4V 2X6 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1916-1922. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2253-2255. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 118-121. RANDOMIZED, DOUBLE-BLIND SIX-MONTH TRIAL OF PREDNISONE IN DUCHENNE'S MUSCULAR DYSTROPHY. J.R. Mendell, et al.; new Eng J of Med (June 15, 1989, issue 320(24)). Pp. 1592-1597. Muscular Dystrophy, Duchenne+( .(pagetitle 37: Muscular Dystrophy, Duchenne 04020.TXT Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 590: Muscular Dystrophy, Emery-Dreifuss _________________________ ** IMPORTANT ** It is possible that the main title of the article (Emery-Dreifuss Muscular Dystrophy) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms EMD Rigid Spine Syndrome Dreifuss-Emery Type Muscular Dystrophy With Contractures Tardive Muscular Dystrophy Information on the following diseases can be found in the Related Disorders section of this report: Duchenne Muscular Dystrophy Myotonic Muscular Dystrophy Becker Muscular Dystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Emery-Dreifuss Muscular Dystrophy is a rare, often slowly progressive form of muscular dystrophy affecting the muscles of the arms, legs, face, neck, spine and heart. Major symptoms may include muscle wasting and weakness particularly in the elbows, Achilles tendons, and upper back muscles as well as the heart. Symptoms Emery-Dreifuss Muscular Dystrophy is usually first noticed in early childhood, around the age of four or five, with the onset of slowly progressive muscle weakness in the legs causing the child to walk on the toes. Shoulder muscles eventually show a marked weakness and walking takes on a characteristic waddle. Later the neck may be involved and the spine may become rigid. Heart problems are a very prominent feature and may result in serious complications. Causes The cause of Emery-Dreifuss is thought to be a defective gene and it is inherited as an X-linked trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Recently, however, a new form of the disease has appeared that affects females with very similar symptoms to those of Emery-Dreifuss. This may suggest more than one mode of inheritance. Affected Population Emery-Dreifuss is a very rare disorder affecting males almost exclusively. Related Disorders Symptoms of the following disorders can be similar to those of Emery-Dreifuss. Comparisons may be useful for a differential diagnosis: Duchenne Muscular Dystrophy is characterized by damage to muscle fibers. It starts in very early childhood or even before birth, but visible symptoms of weakness generally do not appear before the age of two or three. Neck muscles and the large muscles of the legs and the lower trunk are the first to be affected. Over a period of several years, muscle wasting progresses to the upper trunk and the arms, eventually involving all the major muscle groups. Usually around the age of eight or nine, the child is no longer able to stand or walk. Duchenne Muscular Dystrophy has an X-linked recessive pattern of inheritance affecting boys almost exclusively. (For more information on this disorder, choose "Duchenne" as your search term in the Rare Disease Database). Myotonic Dystrophy is an inherited disorder involving the muscles, vision, and endocrine glands. It may also produce mental deficiency and loss of hair. It usually begins during young adulthood and is marked initially by an inability to relax muscles after contraction. Loss of muscle strength, mental deficiency, cataracts, reduction of testicular function, and frontal baldness are also symptomatic of this disorder. Tripping, falling, difficulty in moving the neck, lack of facial expression and a nasal sounding voice are among many symptoms that can result from selective muscle involvement. (For more information on this disorder, choose "Myotonic Dystrophy" as your search term in the Rare Disease Database). Becker Muscular Dystrophy is a late onset, X-linked, type of muscular atrophy. Usually developing in young men during their twenties or thirties, it has a slowly progressive, relatively mild course. Therapies: Standard Treatment of Emery-Dreifuss may include physical therapy and active and passive exercise. Agencies which provide services to handicapped people and their families may be of benefit. In the case of serious heart involvement cardiac pacemakers are usually implanted and treatment with antiarrhythmic drugs may become necessary. Genetic counseling will be of benefit to families affected by this disorder. Other treatment is symptomatic and supportive. Therapies: Investigational Heart transplantation has been attempted in Emery-Dreifuss Muscular Dystrophy patients with serious cases of heart involvement. More research is required to determine the long-term outcome of this procedure on patients with this form of muscular dystrophy. Clinical trials are underway to define the functionally impaired cardiac and skeletal muscle physiology and the cardiac status of carrier females. Interested persons may wish to contact: Louis J. Elsas, II, M.D. Emory University, Division of Medical Genetics 2040 Ridgewood Drive Atlanta, GA 30322 (404) 727-5863 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Emery-Dreifuss Muscular Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 0QP 01-720-8055 Society for Muscular Dystrophy International P.O. Box 479 Bridgewater, Nova Scotia, Canada B4V 2X6 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.1432-1433. X-LINKED MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY (EMERY-DREIFUSS TYPE). A. E. Emery, Clin Genet (November, 1987, issue 32 (5)). Pp. 360-367. CARDIOLOGIC EVALUATION IN A FAMILY WITH EMERY-DREIFUSS MUSCULAR DYSTROPHY. G. Pinelli, et al.; G. Ital Cardiol (July, 1987, issue 17 7)). Pp. 589-593. LETHAL CARDIAC CONDUCTION DEFECTS IN EMERY-DREIFUSS MUSCULAR DYSTROPHY. A. H. Oswald, et al.; S Aft Med J (October, 1987, issue 72 (8) ). Pp. 567-570. Muscular Dystrophy, Emery-Dreifuss !pagetitle 590: Muscular Dystrophy, Emery-Dreifuss 04021.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 921: Muscular Dystrophy, Fukuyama Type _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fukuyama Type Muscular Dystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Cerebromuscular Dystrophy, Fukuyama Type FCMD Fukuyama Disease Micropolygyria With Muscular Dystrophy Muscular Dystrophy, Congenital With Central Nervous System Involvement Muscular Dystrophy, Congenital Progressive With Mental Retardation Information on the following diseases can be found in the Related Disorders section of this report: Batten Turner Muscular Dystrophy Duchenne Muscular Dystrophy General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fukuyama Type Muscular Dystrophy is a rare form of Muscular Dystrophy that is inherited as an autosomal recessive trait. Symptoms of this disorder begin before the age of nine months and include mental retardation, loss of muscle tone or tension and weakness of the muscles. This disorder is predominantly found in Japan. Symptoms Patients with Fukuyama Type Muscular Dystrophy are floppy at birth and usually have problems sucking and swallowing. They have a weak cry and there is a loss of muscle tone as well as weakness of the muscles. The joints in the knees and elbows may be in a fixed position (contractures) and reflexes of the tendons are poor. Few patients with this form of Muscular Dystrophy learn to walk. Mental retardation is found in all patients and some have seizures. A sunken chest, and a severe form of grand mal seizures called Status Epilepticus has been found in a few patients with Fukuyama Type Muscular Dystrophy. Causes Fukuyama Type Muscular Dystrophy is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Fukuyama Type Muscular Dystrophy affects males slightly more often than females. This form of Muscular Dystrophy has been found in Japan almost exclusively. In recent years there have been a few Caucasian cases reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Fukuyama Type Muscular Dystrophy. Comparisons may be useful for a differential diagnosis: Batten Turner Muscular Dystrophy is a congenital form of Muscular Dystrophy. The precise cause of Batten Turner Muscular Dystrophy is not known. However, the disorder may be inherited as an autosomal recessive trait. This disorder manifests itself in early childhood and may first appear as a floppiness in infancy. This is followed by frequent falling and stumbling which is associated with a mild muscular weakness and generalized loss of muscle tone (hypotonia). Although walking usually becomes normal later in life, there may be a residual handicap in the performance of physical activities. (For more information on this disorder, choose "Batten Turner Muscular Dystrophy" as your search term in the Rare Disease Database). Duchenne Muscular Dystrophy is the most rapidly progressive form of muscular dystrophy and one of the most common. This muscle-wasting disorder, which affects boys almost exclusively, typically has it's onset between the ages of two and five and progresses rapidly. For a brief period, between ages three and seven, the child's natural growth and development may produce a deceptive improvement in this condition. But muscle degeneration continues, resulting in weakness that advances rapidly after the age of eight or nine. (For more information on this disorder, choose "Duchenne Muscular Dystrophy" as your search term in the Rare Disease Database). Therapies: Standard Patients with Fukuyama Type Muscular Dystrophy may benefit from physical therapy to help prevent joints from becoming fixed. For patients who have seizures, anti-convulsant drugs such as phenytoin, valproic acid, phenobarbitol, clonazepam, ethusuximide, primidone, corticotropin, and corticosteroid drugs are all being used to help prevent and control seizures. (For more information on seizures choose "Epilepsy" as your search term in the Rare Disease Database). Genetic counseling will be of benefit for patients and their families. Therapies: Investigational For patients who have Grand Mal Status Epliepticus, the orphan drug Fosphentoin is being tested. This experimental drug is manufactured by Warner-Lambert Co., 2800 Plymouth Rd., Ann Arbor., MI, 48105. Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. The genes that cause several types of muscular dystrophy have been identified, and scientists are studying ways to replace the proteins manufactured by these genes in the muscles of people with muscular dystrophy. This disease entry is based upon medical information available through July 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fukuyama Type Muscular Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 OQP 01-720-8055 Society For Muscular Dystrophy International P.O. Box 479 Bridgewater, Nova Scotia, Canada B4V 2X6 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914)-728-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. P. 1357. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. P. 1182. Muscular Dystrophy, Fukuyama Type pagetitle 921: Muscular Dystrophy, Fukuyama Type 04022.TXT #Copyright (C) 1992 National Organization for Rare Disorders, Inc. 911: Muscular Dystrophy, Landouzy-Dejerine _________________________ ** IMPORTANT ** It is possible that the main title of the article (Landouzy-Dejerine Muscular Dystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Facio-scapulo-humeral Dystrophy Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy, Infantile FMD FSHD Muscular Dystrophy, Facioscapulohumeral Information on the following diseases can be found in the Related Disorders section of this report: Central Core Disease Kugelberg-Welander Syndrome Scapuloperoneal Myopathy Nemaline Myopathy General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Landouzy-Dejerine Muscular Dystrophy is a neuromuscular disorder inherited as an autosomal dominant trait. Weakness of the facial muscles giving a mask-like appearance as well as weakness of the shoulder girdle typically appear anytime during the first two decades of life. The amount of muscle weakness can vary from slight to severe. A more severe form of Landouzy-Dejerine Muscular Dystrophy is apparent during infancy and has a rapid progression. Symptoms Landouzy-Dejerine Muscular Dystrophy is characterized by muscle weakness of the face and shoulder girdle. The amount of muscle weakness can be slight, slowly progressive, rapidly progressive or there can be a few muscles that cannot move at all. Initially weakness of the facial muscles may cause the patient to have trouble blowing or puckering the lips. As the muscle weakness becomes more severe, a mask-like facial expression develops and the patient cannot close the eyes while sleeping. When the shoulder girdle becomes affected it becomes difficult to lift the arms above the head. The muscles of the neck and shoulder blade become weak and waste away. Some patients may eventually not be able to raise their arms to eye level. Landouzy-Dejerine Muscular Dystrophy can vary in how the symptoms manifest themselves even among related family members, and progression of the muscle weakness can vary widely between patients. Some patients may have: a condition in which the wrist is flexed down and cannot be flexed up (wrist-drop); affected muscles of the hip girdle; forward curvature of the spine; a condition in which the foot is flexed down and cannot voluntarily be flexed up (foot drop); sensorineural hearing loss; abnormalities of the blood vessels in the retina of the eye; and/or part or all of certain muscles missing at birth. A more severe form of Landouzy-Dejerine Muscular Dystrophy is present during infancy. This form of the disorder progresses rapidly causing severe weakness of the muscles and the inability to walk by the age of ten years. Causes Landouzy-Dejerine Muscular Dystrophy is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Landouzy-Dejerine Muscular Dystrophy is a very rare disorder that affects males and females in equal numbers. The incident rate varies among different locations and ethnic groups. There has been a high incidence of people in Utah and southern Germany afflicted with Landouzy-Dejerine Muscular Dystrophy. Related Disorders Symptoms of the following disorders can be similar to those of Landouzy-Dejerine Muscular Dystrophy. Comparisons may be useful for a differential diagnosis: Central Core Disease is an inherited muscular disorder characterized by weakness of muscles during childhood. The thigh and upper arm muscles are weak and soft, with diminished tone. The legs are usually most severely affected. This disorder does not progress and by about the age of six years, most children can walk. Central Core Disease is inherited as an autosomal dominant trait. (For more information on this disorder, choose "Central Core Disease" as your search term in the Rare Disease Database). Kugelberg-Welander Syndrome is a rare inherited disorder. Major symptoms may include wasting and weakness in the muscles of the arms and legs, twitching, clumsiness in walking, and eventually loss of reflexes. This disorder usually appears during the first ten to twenty years of life. (For more information on this disorder, choose "Kugelberg-Welander Syndrome" as your search term in the Rare Disease Database). Scapuloperoneal Myopathy is a genetic disorder characterized by a weakness and wasting of muscles. Symptoms are usually limited to the shoulder blade area (scapula) and the smaller of the two leg muscle groups below the knee (peroneal). Facial muscles may be affected in a few cases. The leg symptoms often appear before the shoulder muscles become weakened. Progression rates vary between cases. (For more information on this disorder, choose "Scapuloperoneal Myopathy" as your search term in the Rare Disease Database). Nemaline Myopathy is a hereditary muscular disease characterized by weakness and "floppiness" of skeletal muscles. This disorder is evident from birth. Thighs and upper arms are thin and extremely weak along with the muscles of the trunk. Muscle tone is very poor, the muscles are soft and the child seems "floppy". (For more information on this disorder, choose "Nemaline Myopathy" as your search term in the Rare Disease Database). Therapies: Standard Physical therapy may help prevent contractures in patients with Landouzy-Dejerine Muscular Dystrophy. Orthopedic devices may be helpful depending on the extent of the disability. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through May 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Landouzy-Dejerine Muscular Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 OQP 01-720-8055 Society for Muscular Dystrophy International P.O. Box 479 Bridgewater, Nova Scotia, Canada B4V 2X6 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914)-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 626-7. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1183-4. A CLINICALLY HOMOGENEOUS GROUP OF FAMILIES WITH FACIOSCAPULOHUMERAL (LANDOUZY-DEJERINE) MUSCULAR DYSTROPHY: LINKAGE ANALYSIS OF SIX AUTOSOMES: S.J. Jacobsen, et al.; Am J Hum Genet (September, 1990, issue 47(3)). Pp. 376-88. Muscular Dystrophy, Landouzy-Dejerine d fo9$ <$pagetitle 911: Muscular Dystrophy, Landouzy-Dejerine 04023.TXT %Copyright (C) 1992 National Organization for Rare Disorders, Inc. 904: Muscular Dystrophy, Limb-Girdle _________________________ ** IMPORTANT ** It is possible that the main title of the article (Limb-Girdle Muscular Dystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Erb Muscular Dystrophy Leyden-Moebius Muscular Dystrophy LGMD Muscular Dystrophy I Pelvofemoral Muscular Dystrophy Information on the following diseases can be found in the Related Disorders section of this report: Kugelberg-Welander Syndrome Muscular Dystrophy, Becker Myopathy, Scapuloperoneal Polymyositis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Limb-Girdle Muscular Dystrophy is a rare disorder that may be inherited as an autosomal recessive or, in rare cases, an autosomal dominant trait. This disorder is characterized by weakness and wasting of the muscles of the hip and shoulders. The symptoms of Limb-Girdle Muscular Dystrophy may first occur during childhood, the second decade of life or during middle age. The muscle weakness may spread from the upper limbs to the lower limbs or vice versa, and it typically progresses slowly although some patients experience a rapid progression of the disorder. Symptoms The major symptoms of Limb-Girdle Muscular Dystrophy are a progressive wasting and weakness of the muscles of the hip and shoulder areas. This weakness may spread from the upper limbs to the lower limbs or vice versa. Typically the progression of Limb-Girdle Muscular Dystrophy varies although severe disability in walking is usually seen within twenty to thirty years of onset. The first sign of the disorder is usually difficulty in walking up the stairs or lifting the hands above the head. The long muscles that stretch over the bone of the upper arm and forearm, and the muscles just under the skin on the thumb side of the forearm are weaker than the large muscles that run along the entire length of the back of the upper arm. Some patients with Limb-Girdle Muscular Dystrophy may also develop: neck muscle weakness and fixed joints (contractures) in later stages of the disorder; muscles that become swollen with deposits of fat and fiber-like tissue (pseudohypertrophy); and/or severe lower back pain. Causes Limb-Girdle Muscular Dystrophy is a rare form of muscular dystrophy which may be inherited as an autosomal dominant trait or in some rare cases an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Limb-Girdle Muscular Dystrophy is a very rare disorder that affects males and females in equal numbers. Typically this disorder is detected between the ages of ten and twenty-five. A large affected Swiss family has been reported as well as a group of affected patients in Scotland. Related Disorders Symptoms of the following disorders can be similar to those of Limb-Girdle Muscular Dystrophy. Comparisons may be useful for a differential diagnosis: Becker Muscular Dystrophy is a rare muscular disorder inherited as an X-linked recessive trait. This disorder is characterized by wasting of the muscles usually during the second or third decade of life. This slowly progressive disorder affects males almost exclusively. Muscles of the hips and shoulders are weakened, walking abnormalities develop, and mild mental retardation may be present. Eventually, other more severe symptoms may involve the heart and lungs. (For more information on this disorder choose "Becker Muscular Dystrophy as your search term in the Rare Disease Database). Kugelberg-Welander Syndrome is a rare disorder that is inherited as an autosomal recessive trait. Major symptoms of this disorder may include wasting and weakness in the muscles of the arms and legs, twitching, clumsiness in walking and eventual loss of reflexes. This disorder is not apparent at birth but usually appears during the first ten to twenty years of life. (For more information on this disorder, choose "Kugelberg-Welander Syndrome" as your search term in the Rare Disease Database). Polymyositis is a systemic connective tissue disorder characterized by inflammatory and degenerative changes in the muscles, leading to weakness and some degree of muscle atrophy. The areas mainly affected are the hip, shoulder and chest muscle. The symptoms of this disorder may start gradually or suddenly and often wax and wane for no apparent reason. (For more information on this disorder, choose "Polymyositis" as your search term in the Rare Disease Database). Scapuloperoneal Myopathy is a genetic disorder thought to be inherited as an autosomal dominant trait. This disorder is characterized by a weakness and wasting of muscles. Symptoms are usually limited to the shoulder blade area and the smaller of the two leg muscle groups below the knee (peroneal). Facial muscles may be affected in a few rare cases. The leg symptoms often appear before the shoulder muscles become weakened. Progression rate varies between cases. This disorder may also occur in combination with several other disorders. (For more information on this disorder choose "Scapuloperoneal Myopathy" as your search term in the Rare Disease Database). Therapies: Standard Patients with Limb-Girdle Muscular Dystrophy may benefit from physical therapy and support and bracing of weak joints or muscles (orthotics). Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. Since the genes for several types of muscular dystrophy have been identified by scientists, it is recommended that patients with Limb-Girdle MD receive genetic counseling in order to rule out diagnosis of other forms of muscular dystrophy. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Limb-Girdle Muscular Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise DR. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Strokes (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 OQP 01-720-8055 Society for Muscular Dystrophy International P.O. Box 479 Bridgewater, Nova Scotia, Canada B4V 2X6 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 627, 1356. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1184-5. CLINICAL AND GENETIC INVESTIGATION IN AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY: J.M. Gilchrist, et al.; Neurology (January, 1988, issue 38(1)). Pp. 5-9. Muscular Dystrophy, Limb-Girdle &pagetitle 904: Muscular Dystrophy, Limb-Girdle 04024.TXT )Copyright (C) 1992 National Organization for Rare Disorders, Inc. 905: Muscular Dystrophy, Oculo-Gastrointestinal _________________________ ** IMPORTANT ** It is possible that the main title of the article (Oculo-Gastrointestinal Muscular Dystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Intestinal Pseudoobstruction with External Ophthalmoplegia Oculogastrointestinal Muscular Dystrophy Ophthalmoplegia-Intestinal Pseudoobstruction Viceral Myopathy-External Ophthalmoplegia Information on the following diseases can be found in the Related Disorders section of this report: Intestinal Pseudoobstruction Kearns-Sayre Syndrome Muscular Dystrophy, Oculopharyngeal Ophthalmoplegia, Progressive External General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Oculo-Gastrointestinal Muscular Dystrophy is a very rare form of muscular dystrophy that affects females more often than males. It is inherited as an autosomal recessive trait. The major characteristics of this disorder are droopy eyelids (ptosis), loss of movement of the external muscles of the eye (external ophthalmoplegia), and a progressive condition in which the intestinal walls are unable to contract normally causing abdominal pain, diarrhea, constipation, and malabsorption of nutrients (progressive intestinal pseudo-obstruction). Symptoms Symptoms of Oculo-Gastrointestinal Muscular Dystrophy may be apparent during childhood or may not appear until late adulthood. Patients with childhood onset tend to have a rapid progression of the disorder while patients with the adult onset type usually have a milder course. The main symptoms of this disorder are droopy eyelids, loss of movement of the external muscles of the eye (external ophthalmoplegia), and a progressive condition in which the intestinal walls are unable to contract normally (progressive intestinal pseudo-obstruction). Intestinal Pseudo-Obstruction is a digestive disorder in which the intestinal walls do not contract normally (peristalsis) and consequently food does not move forward normally through the digestive tract. This problem is often presumed to be caused by an intestinal obstruction, but no such blockage exists. Abdominal pain, diarrhea, constipation, malabsorption of nutrients leading to weight loss and/or (in infants) failure to thrive, enlargement of various parts of the small intestine or bowel and/or vomiting may occur. Other symptoms found in some patients with Oculo-Gastrointestinal Muscular Dystrophy may be: weakness of the sides of the face; swelling and wasting of the nerves on the sides of the body, hands and feet; diminished sensitivity to stimulation and/or a decrease in deep tendon reflexes. Causes Oculo-Gastrointestinal Muscular Dystrophy is thought to be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Oculo-Gastrointestinal Muscular Dystrophy is a very rare disorder that affects females more often than males with a ratio of six females to every one male. This disorder may occur at birth or symptoms may first occur during the fifth decade of life. There have been approximately seven cases of this type of muscular dystrophy reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Oculo-Gastrointestinal Muscular Dystrophy. Comparisons may be useful for a differential diagnosis: Intestinal Pseudoobstruction is a digestive disorder that may occur with no known cause or as a component of various other disorders such as Scleroderma, Myxedema, Amyloidosis, Muscular Dystrophy, Hypokalemia, Chronic Renal Failure, or Diabetes Mellitus. Drug toxicity as result of anticholinergic drugs and opiate narcotics may also cause Intestinal Pseudoobstruction. Symptoms are thought to be caused by paralysis of the intestines or abnormalities of the nerves in the intestinal wall. (For more information on this disorder, choose "Intestinal Pseudoobstruction" as your search term in the Rare Disease Database). Kearns-Sayre Syndrome is a rare neuromuscular disorder characterized by paralysis of the eye, face and mouth muscles in combination with vision and hearing deficits. The heart muscle is always involved and in some patients brain function can be affected. (For more information on this disorder, choose "Kearns-Sayre Syndrome" as your search term in the Rare Disease Database). Oculopharyngeal Muscular Dystrophy is a rare disorder that typically presents itself during the fourth to eighth decades and is inherited as an autosomal dominant trait. Symptoms of this disorder are drooping of the upper eyelids, progressive difficulty in swallowing, weakness of the muscles of the throat and eventually, weakness of the muscles of the shoulder and pelvic girdles. Oculopharyngeal Muscular Dystrophy affects males and females equally. Progressive External Ophthalmoplegia is a rare disorder in which there is drooping of both upper eyelids. This is followed by the loss of movement of the eye (ophthalmoplegia). Patients eventually develop a backward tilt of the head in order to compensate for the eye problems. This disorder is often associated with diabetes mellitus, hypoparathyroidism, hyperaldosteronism, thyroid disease, ataxia, spasticity, degeneration of the retina and other disorders. Progressive External Ophthalmoplegia can be a symptom of another disorder or it may be inherited. Therapies: Standard In severe cases of Intestinal Pseudoobstruction patients may require long-term parenteral or enteral nutrition. In parenteral feeding a patient is fed through a tube directly into the veins (intravenous), beneath the skin, into a muscle, or into the bone marrow of the spinal cord. Enteral feeding involves being fed through a tube directly into the stomach. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational The orphan drug cisapride, which induces motility in the intestines (peristalsis) is being tested for treatment of Intestinal Pseudoobstruction. Further testing is required since results have not been fully documented for all but the most severe cases of Intestinal Pseudoobstruction. The drug is manufactured by Janssen Pharmaceutica. For more information, physicians can contact: Pediatric Gastrointestinal Motility Center Dr. Paul Hyman, Chief Harbor UCLA Medical Center 1124 W. Carson St., Trailer C-1 Torrance, CA 90502 Research on birth defects, inherited disorders and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. The genes that cause several types of muscular dystrophy have been identified, and scientists are studying ways to replace the proteins manufactured by these genes in the muscles of people with muscular dystrophy. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Oculo-Gastrointestinal Muscular Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 Muscular Dystrophy Group of Great Britain and Northern Ireland Nattrass House 35 Macaulay Road London, England SW4 OQP 01-720-8055 Society for Muscular Dystrophy International P.O. Box 479 Bridgewater, Nova Scotia, Canada B4V 2X6 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 American Society of Adults with Pseudoobstruction 19 Carrol Rd. Woburn, MA 01801 (617) 938-7571 North American Pediatric Pseudoobstruction Society 16 Mammmola Way Medford, MA 02155 (617) 395-4255 For information on Parenteral or Enteral Nutrition, contact: PEN Parent Education Network 203 Brookfield Dr. Straford, WI 54484 (715) 687-4551 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1526. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1185-6. OCULOGASTROINTESTINAL MUSCULAR DYSTROPHY: V. Ionasescu, Am J Med Genet (May, 1983, issue 15(1)). Pp. 103-12. Muscular Dystrophy, Oculo-Gastrointestinal *pagetitle 905: Muscular Dystrophy, Oculo-Gastrointestinal 04025.TXT ` [ Copyright (C) 1989 National Organization for Rare Disorders, Inc. 654: Mutism, Elective _________________________ ** IMPORTANT ** It is possible that the main title of the article (Elective Mutism) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms EM Information on the following diseases can be found in the Related Disorders section of this report: Aphasia Pervasive Developmental Disorder Autism Developmental Expressive Language Disorder General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Elective Mutism is a rare psychiatric condition of childhood characterized by the refusal to speak in social situations. Ability to understand spoken language and to speak is usually not impaired. Excessive shyness, anxiety, depression, and controlling manipulative behavior may also occur. Symptoms Children with elective mutism most commonly refuse to speak at school, but usually talk normally at home. Less commonly, they refuse to speak in nearly all social situations. They may communicate by gestering, nodding their heads, or uttering sounds or one-syllable words. Elective mutes may be excessively shy, socially isolated and withdrawn. Clinging, anxious, and depressed behavior may also occur. They may refuse to go to school, throw temper tantrums, and be manipulative. They may also refuse to do, do the opposite of, or do something else when asked to perform task (negativism). Functioning in school and social situations may be impaired. Elective mutes commonly are compliant, reticent, and almost 'frozen' around strangers. In most cases this condition lasts only a few weeks or months; however, a few have continued for several years. Causes Particular personal and family characteristics may contribute to the appearance of Elective Mutism. Children can be susceptible to Elective Mutism if they have recently immigrated, been hospitalized or traumatized at a young age, been socially isolated, have an underlying language or speech disorder or problem, or are mentally retarded. Elective mutes may come from families that are extremely shy and reserved. The term 'elective' means that these children choose not to speak rather than becoming mute due to an underlying physical abnormality. Affected Population Elective Mutism usually occurs before age five; however, it may only become evident with entry into school. This disorder is slightly more common in females than in males. Related Disorders Symptoms of the following disorders can be similar to those of Elective Mutism. Comparisons may be useful for a differential diagnosis: Delayed speech and language development can be signs of a nervous system abnormality, a thinking/learning (cognitive) difficulty, or a hearing problem. This delayed development can also be signs of emotional, social, family, or behavioral problems. The possibility of abnormalities of tracheal ('windpipe') and laryngeal ('voice box') function or oral-motor development should be investigated by a physician. Aphasia is a defect or loss of language function. Comprehension or expression of words is impaired as a result of injury to the language centers in the brain. The most common form of aphasia occurs in people who have had a stroke or head injury. However, it can also occur in children as a congenital disorder. The severity of the brain injury determines the extent of impairment. Severe damage may cause the patient not to understand any information related to language. Smaller injuries may cause selective language impairment. Pervasive Developmental Disorders comprise a group of uncommon psychiatric disorders characterized by impairment in social skills, in the development of verbal and nonverbal communication skills, and in imaginative activity. There may be delays in developing intellectual skills, language and speech, posture and movements. The severity and type of these impairments vary greatly from child to child. The most well-known Pervasive Developmental Disorder is Autism. Autism is a lifelong neurological disorder characterized by onset before 30 months of age, retarded development of communication and language, lack of normal response to people, and extreme sensitivity to changes in their environment. About 75% of Autistic children have lower than normal IQ's. Occasionally, a child shows distinct and unusual skills in music, mathematics, or in using spatial concepts. Children with Autism may have mild, moderate, or severe symptoms. Boys are affected four times more frequently than girls. (For more information on this disorder, choose "Autism" as your search term in the Rare Disease Database). Developmental Expressive Language Disorder is an uncommon disorder characterized by impairment in the development of expressive language. Language development is slow with speech beginning late and progressing slowly. Severe forms usually occur before age three. Less severe forms may not be evident until early adolescence. Therapies: Standard Initially, children with Elective Mutism should undergo extensive medical evaluation to rule out other possible causes. The evaluation should include hearing tests to assure that the child is not deaf. Treatment of Elective Mutism consists of psychotherapy and behavior management. The therapies that may be effective in treating Elective Mutism are reinforcement conditioning, counter-conditioning, and shaping (successive approximations). Reinforcement conditioning consists of rewarding the patient when something has been done correctly. Counter-conditioning involves developing new behaviors that are not compatible with the undesirable behaviors. Shaping is a method for developing complex behaviors by progressively reinforcing simple behaviors that will eventually lead to the desired complex behavior. To maintain the positive changes that the Elective mute has learned through behavior modification, any family problems must be resolved. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Elective Mutism, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Elective Mutism Support Group 99-52 - 66th Road, 1J Forest Hills, NY 11375 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) National Mental Health Association 1021 Prince Street Alexandria, VA 22314 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 References DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3d.--Revised: R.L. Spitzer, et al., eds; American Psychiatric Association, 1987. Pp. 32-33, 38-39, 45, 87-88. STRANGER REACTION AND ELECTIVE MUTISM IN YOUNG CHILDREN: M. Lesser-Katz; Am J Orthopsychiatry (July, 1986: issue 56(3)). Pp. 458-469. A COMPARISON OF ELECTIVE MUTISM AND EMOTIONAL DISORDERS IN CHILDREN: R. Wilkins; Br J Psychiatry (February, 1985: issue 146). Pp. 198-203. SPEECH AND LANGUAGE DISORDERS IN CHILDREN: D.C. Van Dyke, et al.; Am Fam Physician (May, 1984: issue 29(5)). Pp. 257-268. Mutism, Elective_! b!pagetitle 654: Mutism, Elective 04026.TXT $Copyright (C) 1985, 1986, 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 50: Myasthenia Gravis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Myasthenia Gravis) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms ERB Goldflam Disease Myasthenia Gravis Pseudoparalytica MG Familial Infantile Myasthenia Gravis Transitory Neonatal Myasthenia Gravis Congenital Myasthenia Gravis Generalized Myasthenia Gravis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Myasthenia Gravis (MG) is a chronic neuromuscular disease characterized by weakness and abnormally rapid fatigue of the voluntary muscles, with improvement following rest. Any group of muscles may be affected, but those around the eyes and the muscles used for swallowing are the most commonly involved. They also are the most resistant to therapy. Symptoms The onset of Myasthenia Gravis may be sudden with severe generalized weakness, but more often the symptoms in early stages are subtle and the progression so gradual that the disease is not readily identified. Symptoms vary depending upon which muscles are affected. The muscles most frequently involved in the early stages are those used in talking, swallowing, and chewing. The patients's voice tends to become nasal and during conversation may fade until almost unintelligible. Muscle weakness in the throat and neck area represents a significant danger gravis since food can accidentally become trapped in the trachea. Weakness of the eye muscles, resulting in drooping eyelids (ptosis) and diplopia is also an early sign. The condition becomes worse in the afternoon or evening and improves in the morning or after rest. Similarly, weakness of the limbs is a frequent characteristic of myasthenia gravis, and is most pronounced after exercise and at the end of the day. In the majority of cases, the course of the disease is punctuated with periods of greater and lesser weakness. Short term aggravation of symptoms can be provoked by a host of factors, including excessive physical activity, emotional upset, menstruation, and pregnancy. Complete spontaneous disappearance of symptoms has been reported in rare instances. The most feared complication of the myasthenia gravis patient is a "crisis". The term is applied to sudden, severe muscle weakness and especially a weakness of muscles involved in respiration. Myasthenic crisis is considered to be a sudden increase in severity of the basic disease that may occur during menstruation, infection (such as flu), excessive physical activity, emotional upset, and pregnancy. Cholinergic crisis, which has similar symptoms, is caused by over-dosage of anticholinesterase agents. Infants of mothers with myasthenia gravis sometimes have a transient form of the disease. Weakness is present at birth and lasts from 18 to 50 days with return of normal function. Causes Recent scientific evidence indicates that Myasthenia Gravis may be caused by an autoimmune reaction involving binding of antibodies to a membrane protein which obstructs nerve transmission in the muscles. This obstruction causes the muscles to become weaker with repetitive use. Autoimmune disorders occur when the body's natural defenses against invading organisms (antibodies), for unknown reasons, suddenly begin to attack perfectly tissue. Affected Population Approximately 100,000 people in the United States have myasthenia gravis. Myasthenia gravis can strike any individual at any age at any time. Symptoms generally appear earlier in females, with a peak age of onset between 15 and 35 years, compared with 40 to 70 years in males. Generalized myasthenia gravis is more common in younger females and conversely, symptoms limited to the eye muscles are more frequent in older males. However, any form can appear at any age and in either sex. Therapies: Standard For nearly 40 years the anticholinesterase drugs, especially pyridostigmine and neostigmine, have been the mainstays of symptomatic relief. A patient's condition may worsen temporarily before improving. Recently, scientists at the National Institute of Neurological and Disorders and Stroke are employing a new treatment for Myasthenia Gravis -long-term use of a high-single-dose, alternate-day oral prednisone regimen. This has proven extremely beneficial over long periods in a majority of patients treated. Patients over age 40, especially males, appear to respond best to this treatment. A surgical procedure for removing the thymus ("thymectomy") has benefited a number of myasthenia gravis patients, many of whom were severely affected. Recent studies have led a number of physicians to believe that thymectomy should be performed routinely in most myasthenia gravis patients. Certain drugs can provoke worsening of symptoms in the myasthenic patient and should be avoided. These include curare, quinidine and quinine. Occasionally quinine may be unknowingly self-administered in the form of tonic water from a gin and tonic. Other drugs that may aggravate MG symptoms are some of the antibiotics. Therapies: Investigational The National Institute of Neurological Disorders and Stroke (NINDS) has studied plasmapheresis as a treatment for Myasthenia Gravis. Plasmapheresis (plasma exchange) is a method for removing unwanted elements (toxins, metabolic substances, and plasma parts affected by disease) from the blood. It is performed by removing blood, separating the plasma from the other blood products, and replacing the plasma with clean human plasma. In Myasthenia Gravis, the immune system appears to attack the transmitter nerves at the muscle and nerve junctions, nerve pathways and certain nerve endings (acetylcholine receptors). Plasmapheresis has been used successfully to strengthen patients before surgical removal of the thymus gland (thymectomy), and during the postoperative period. It can also be valuable in lessening symptoms during immune suppression drug treatment and during acute crisis attacks. However, more research is needed before plasmapheresis becomes a standard therapy, particularly because side effects of this treatment have not been fully evaluated. The effects of plasmapheresis are temporary, and it is not commonly used for routine treatment because of high cost and the effects tend to wear off after a short period of time. Cyclosporine, a potent drug that suppresses the immune system, is being tested as a treatment for Myasthenia Gravis. Some patients have shown gains in strength after using this drug. However, more research is necessary before cyclosporine can be used as a standard treatment for this disorder. Studies are being conducted in the use of Sandoglobulin and the immunosuppressant drug azathioprine as treatments for Myasthenia Gravis. Further investigation is needed to determine it's safety and effectiveness. In 1990 the Office of Orphan Drug Product Development awarded a New Grant Award to Dr. Donald B. Sanders of Duke University of Duke University, Durham, NC for his work in the use of 3,4-DAP in the treatment of Myasthenia Gravis and Lambert-Eaton Syndrome. Intravenous gamma globulin is being tested for treatment of Myasthenia Gravis; however, so far the effects are temporary. This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Myasthenia Gravis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Myasthenia Gravis Foundation, Inc. 53 W. Jackson Blvd., Suite 660 Chicago, IL 60604 (800) 541-5454 (312) 427-6252 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 For more information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1449. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2285-7. Myasthenia Gravis &pagetitle 50: Myasthenia Gravis 04027.TXT ,Copyright (C) 1988, 1989, 1991 National Organization for Rare Disorders, Inc. 458: Mycosis Fungoides _________________________ ** IMPORTANT ** It is possible the main title of the article (Mycosis Fungoides) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Granuloma Fungoides DISORDER SUBDIVISIONS Vidal-Brocq Mycosis Fungoides Information on the following disorders may be found in the Related Disorders section of this report: Discoid Lupus Erythematosus Eczema Leprosy Lichen Planus Lymphocytic Infiltrate of Jessner (Benign Lymphocytic Infiltrate of the Skin) Lymphocytic Leukemia, Chronic Lymphocytoma Cutis Parapsoriasis Lichenoides Chronica (Parapsoriasis Varioliformis Chronica) Sezary Syndrome (Sezary Reticulosis Syndrome; Sezary Erythroderma) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mycosis Fungoides is a chronic progressive lymphocyte disorder arising in the skin. In advanced cases, ulcerated tumors and infiltration of lymph nodes by diseased cells may occur. The disorder may spread to other parts of the body including the gastrointestinal system, liver, spleen, or brain. Symptoms STAGE I: The first sign of Mycosis Fungoides is usually generalized itching (pruritus), and pain in the affected area of the skin. Sleeplessness (insomnia) may also occur. Red (erythematous) patches scattered over the skin of the trunk and the extremities appear. These lesions may resemble other skin disorders such as Psoriasis, Parapsoriasis, Lichen Planus, or Eczema. STAGE II: The second stage is called the plaque or infiltrating stage. Bluish red plaques develop which are initially small and elevated. The plaques may enlarge and run together resembling a skin disorder known as exfoliative dermatitis. The lymph nodes may develop another disorder (lipomelanotic reticulosis), characterized by abnormal development of cells called macrophages, and black colored fatty tissue. Additionally, inflammation of the lymph nodes (lymphadenitis) may occur. STAGE III: The third stage is the fungoid or tumor stage. Tumors appear resembling mushrooms which are round or lobulated. Lesions are 1 to 15 cm (1/2 to 6 inches) in diameter, bluish or red-brown in color, with ulcerations. Skin layers may thicken and atypical lymphoid cells may infiltrate the upper skin layer in bands. These cells may also infiltrate the clear spaces in the lower skin layers causing necrosis. STAGE IV: This disorder may next spread throughout the body, marked by fever, weight loss, and anemia. There may be gastrointestinal involvement with or without ulceration of the intestines. The liver and spleen may become enlarged. Coughing and difficulty swallowing (dysphagia) may also occur. The heart muscle may also be affected. If the brain is involved, eye pain and loss of clear vision may occur. Causes The exact cause of Mycosis Fungoides is not known. It is probably a malignant growth of lymph tissue (lymphoma) originating in the skin, or possibly a young blood cell (reticulum cell) lymphoma. Affected Population Mycosis Fungoides rarely occurs before age 40. It affects males twice as often as females. Related Disorders Symptoms of the following skin disorders may resemble those of Mycosis Fungoides. Comparisons may be useful for a differential diagnosis: Discoid Lupus Erythematosus is a chronic and recurrent autoimmune disorder primarily affecting the skin. It is characterized by sharply circumscribed spots (macules) and plaques displaying redness (erythema), plugging of follicles, scales, vascular lesions (telangiectasia), and wasting (atrophy). There are two varieties: one with lesions above the chin, the other with or without facial involvement but causing skin lesions on the rest of the body. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database.) Eczema (dermatitis) is a common superficial inflammation of the skin, characterized by extremely dry and cracked skin with blisters (when acute), redness, swelling, oozing, crusting, and scaling. It is usually itchy and commonly associated with allergies. Leprosy (Hansen's Disease) is a chronic infectious disorder caused by bacteria (Mycobacterium leprae). It tends to occur in tropical and subtropical areas of the world. Skin, mucous membranes, eyes and peripheral nerves may be involved. Nerve damage can result in loss of sensation and movement in the face, hands and feet. This in turn can lead to crippling and disfigurement. Blindness may result from eye complications. The prognosis with treatment is good. (For more information on this disorder, choose "Leprosy" as your search term in the Rare Disease Database.) Lichen Planus is a recurrent, itchy, inflammatory eruption of the skin which is characterized by small separate, angular spots that may flow together into rough scaly patches. It is often accompanied by lesions in the mouth. Women are most commonly affected by the disorder. (For more information on this disorder, choose "Lichen Planus" as your search term in the Rare Disease Database.) Lymphocytic Infiltrate of Jessner (Benign Lymphocytic Infiltrate of the Skin) is a skin disorder characterized by benign accumulations of lymph cells in the skin, whereas Mycosis Fungoides is a malignant infiltration of lymph cells. These small lesions are solid, pink or red, and appear on itchy and reddened areas of the face, neck and/or back. Lesions may remain unchanged and then spontaneously resolve after several years, leaving no scars. Chronic Lymphocytic Leukemia is characterized by an abnormal accumulation of lymph cells from the lymph nodes and tissues. These cells infiltrate the bone marrow and replace the normal blood forming elements. The disorder, almost three times more common in males than in females, occurs chiefly between the ages of 50 to 70, but may occur at any age. Parapsoriasis Lichenoides Chronica (Parapsoriasis Varioliformis Chronica) is a relatively benign, chronic, scaly skin disorder characterized by elevated spots (papules). It may occur at any age and is not easily treatable. (For more information, choose "Psoriasis" as your search term in the Rare Disease Database.) Sezary Syndrome (Sezary Reticulosis Syndrome; Sezary Erythroderma) is a generalized redness of the skin (erythroderma) in which areas of the skin fall off in scales. It is caused by infiltration of the skin by young blood (reticular) cells. The disorder is associated with intense itching, loss of hair, swelling, and overdevelopment of the horn layer of the skin (hyperkeratosis). Changes in skin pigment, fingernails, and toe nails may occur. Bone marrow and lymph nodes are normal in patients with this disorder but abnormal young red blood cells may often be found. Therapies: Standard Mycosis Fungoides may be treated with electron beam radiation, local application of the cytotoxic alkylating drug mechlorethamine and psoralen. Ultraviolet A (PUVA) radiation or exposure to sunlight may also be helpful. Therapies: Investigational In advanced stages of Mycosis Fungoides, injections into the muscles with high-dose recombinant leukocyte A interferon was tested in clinical trials. Initial results indicate this treatment may be effective. Side effects can be reduced by lowering the dosage. However, more research is needed before this treatment can be approved for safe, general use. Cyclosporine (Sandimmune) may be of potential benefit for treating a number of dermatologic diseases. These include Pemphigus and Bullous Pemphigoid, Posterior Uveitis and Behcet's Syndrome, collagen vascular disorders such as severe Dermatomyositis, Sjogren's Syndrome, and Scleroderma, Mycosis Fungoides, and Alopecia Areata. Certain types of skin grafts have also shown improvement after cyclosporine treatment, in some cases. However, this drug may also be associated with severe and life-threatening side effects which would limit its use in many patients. Careful monitoring of this drug by a physician is necessary to guard against possible toxic side effects. Relapses can occur when the drug is discontinued. More research is needed before cyclosporine can be recommended as a treatment for all but the most severe cases of the disorders listed above. Even for the most severe cases its use is still experimental, and long-term effects are unknown. The orphan drug Methotrexate USP with Laurocapram has received approval for testing from the FDA in the treatment of Mycosis Fungoides. The drug is manufactured by Whitby Research, Inc., Richmond, VA. This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mycosis Fungoides, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Mycosis Fungoides Network Dept. of Dermatology, Pavillion A-3 U C Medical Center Cincinnati, OH 45267-0523 (513) 558-4644 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 The Skin Cancer Foundation 475 Park Ave. South New York, NY 10016 (212) 725-5176 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with many types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. References ALPHA-INTERFERON TREATMENT OF CUTANEOUS T CELL LYMPHOMA AND CHRONIC LYMPHOCYTIC LEUKEMIA: K.A. Foon, et al.; Semin Oncol (December 1986: issue 13(4 Suppl 5)). Pp. 35-39. COMBINED TOTAL BODY ELECTRON BEAM IRRADIATION AND CHEMOTHERAPY FOR MYCOSIS FUNGOIDES: I.M. Braverman, et al.; Journal Am Acad Dermatol (January 1987: issue 16 (1 Pt 1)). Pp. 45-60. CUTANEOUS MALIGNANCIES AND METASTATIC SQUAMOUS CELL CARCINOMA FOLLOWING TOPICAL THERAPIES FOR MYCOSIS FUNGOIDES: E.A. Abel, et al.; Journal Am Acad Dermatol (June 1986: issue 14(6)). Pp. 1029-1038. Mycosis Fungoides peri%- (-pagetitle 458: Mycosis Fungoides 03996.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 806: Meningitis, Tuberculous _________________________ ** IMPORTANT ** It is possible the main title of the article (Meningitis, Tuberculous) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Tuberculous Meningitis TBM Information on the following disorders may be found in the Related Disorders section of this report: Meningitis Encephalitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Tuberculous Meningitis (TBM) is a form of meningitis caused by a specific bacteria known as Mycobacterium Tuberculosis. Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation can begin suddenly (acute) or develop gradually (subacute). In Tuberculous Meningitis, the disorder develops gradually. Symptoms may include fever, headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may occur. Treatment with antibiotics and other drugs is usually effective against the infection. Symptoms Tuberculous Meningitis involves the central nervous system. Headaches and behavioral changes may be noticed initially. Fever, headache, a stiff neck, and vomiting may also occur. Symptoms among older children and adults may progress from irritability to confusion, drowsiness, and stupor, possibly leading to coma. Untreated, this disorder can lead to seizures, "communicating hydrocephalus" (accumulation of fluid in the brain cavity), deafness, mental retardation, paralysis of one side of the body (hemiparesis) and other neurological abnormalities. (For more information on communicating hydrocephalus, choose "hydrocephalus" as your search term in the Rare Disease Database). Testing for Tuberculous Meningitis may include imaging techniques such as CT scans or magnetic resonance imaging (MRI). Diagnosis is made by examination of the cerebrospinal fluid. Causes Tuberculous Meningitis is a rare complication that occurs in some patients who have or have had tuberculosis (TB), especially miliary tuberculosis. It can also occur in people who have been exposed to the bacteria that causes TB. This form of meningitis is caused by a specific bacteria known as Mycobacterium Tuberculosis. (For more information on tuberculosis, choose "tuberculosis" as your search term in the Rare Disease Database). Affected Population Tuberculous Meningitis is a rare complication that occurs in some patients who have or have had tuberculosis (TB), or were exposed to the TB bacteria. It is usually found in children aged one to five years although it may occur at any age. Related Disorders Symptoms of the following disorders may resemble those of Tuberculous Meningitis. Comparisons may be useful for a differential diagnosis: In general, Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation may be caused by different types of bacteria, viruses, fungi, malignant tumors, or reactions to certain injections into the spinal canal. (For more information on other forms of meningitis, choose "meningitis" as your search term in the Rare Disease Database). Encephalitis is a brain infection. There are different types of this disorder which are caused by different types of viruses. Encephalitis may also be caused by hypersensitivity initiated by a virus or other protein that is foreign to the body. Symptoms may include headache, drowsiness, hyperactivity, and/or general weakness. This disorder may have some symptoms similar to those of Meningitis such as a stiff neck, altered reflexes, confusion, speech disorders, convulsions, paralysis and coma. (For more information choose "Encephalitis" as your search term in the Rare Disease Database). Therapies: Standard Meningitis is usually treated with antibiotic drugs used against the bacteria causing the infection. These may include isoniazid, rifampin, streptomycin, and ethambutol. Treatment should last for at least 9 months to one year. Corticosteroid drugs such as prednisone may also be of benefit. Therapies: Investigational This disease entry is based upon medical information available through August 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Tuberculous Meningitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1691. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1497, 1502. THE MERCK MANUAL, Volume 1, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp, and Dohme Laboratories, 1987. Pp. 121-122. Gd-DTPA-ENHANCED MR IMAGING OF THE BRAIN IN PATIENTS WITH MENINGITIS: COMPARISON WITH CT. K. H. Chang, et al.; AJR Am J Roentgenol (April 1990; issue 154 (4)). Pp. 809-816. TUBERCULOUS MENINGITIS IN CHILDREN: TREATMENT WITH ISONIAZID AND RIFAMPICIN FOR TWELVE MONTHS. P. Visudhiphan and S. Chiemchanya; J Pediatr (May 1989; issue 114 (5)). Pp. 875-879.' Meningitis, Tuberculous pitzk pagetitle 806: Meningitis, Tuberculous 03997.TXT `+Q+Copyright (C) 1992 National Organization for Rare Disorders, Inc. 916: Meningococcemia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Meningococcemia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Meningococcal Disease Meningococcemia-Meningitis Disorder Subdivisions: Fulminant Meningococcemia (also known as Waterhouse-Friderichsen Syndrome) Chronic Meningococcemia Information on the following diseases can be found in the Related Disorders section of this report: Rocky Mountain Spotted Fever Henoch-Schonlein Purpura Acute Vasculitis Rheumatic Fever Toxic Shock Syndrome Bacterial Endocarditis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Meningococcemia is an infectious disease that occurs rarely. However, there are years when epidemics of the illness occur. Major symptoms may include upper respiratory tract infection, fever, skin rash and lesions, eye and ear problems and possibly shock (a sudden state of extreme physical depression which could cause a life-threatening situation). Symptoms Meningococcemia is characterized by sudden intense headache, nausea, fever, vomiting, skin rash and in cases associated with meningitis, a stiff neck. The patient may first complain of an upper respiratory infection. Chills may develop, then skin rash on the arms or legs and the trunk. Diarrhea may also be present. Later the rash may become widespread or develop into bleeding spots under the skin (petechiae, ecchymoses, or purpura). There may be associated swelling, muscle pain, skin deterioration or gangrene in the arms and legs. Pneumonia may also develop along with the other symptoms if the person has a suppressed immune system. In cases where meningitis occurs along with meningococcemia, the patient may have the symptoms listed above along with the combination of headache, confusion, stiff neck, and muscle pain from irritation of membranes surrounding the brain and spinal cord (meningismus). (For more information on this disorder, choose "Meningitis" as your search term in the Rare Disease Database). Disorder Subdivision Fulminant Meningococcemia is also known as Waterhouse-Friderichsen Syndrome and is the most severe form of the disorder. The disease comes on very suddenly and the progression of the symptoms is very rapid. In less than a few hours the patient has very high fever, chills, weakness, vomiting and severe headache. A red rash appears on the arms and legs and spreads very quickly over the body including the eyes and nose. The patient's blood pressure may drop dangerously and the fever may also drop dramatically. The patient may go into shock. Without immediate medical treatment this disorder can be life-threatening. Chronic Meningococcemia is a rarer form of the disease. It is characterized by fever that comes and goes over a period of weeks or months. Muscle and joint pain with headache as well as a skin rash may also come and go. This form of the disorder may also include an enlarged spleen. Causes Meningococcemia is caused by infection with the meningococci bacteria (Neisseria memingitidis) which are gram-negative diplococci bacteria. There are various groups of this bacteria that cause different forms of the disease and they are grouped by strains A,B,C,D,X,Y,Z, 29E and W135. These groups can be identified by testing the blood, scrapings of the skin rash and samples of the cerebrospinal fluid of the patient. Testing may take up to five days as the cultures are very slow growing. Infection with the bacteria is usually caused by a carrier. The natural place for the bacteria to be located is in either the nose or throat of the carrier, and they can be spread by airborne or close contact methods. The carrier may spread the infection for weeks or months if they are not diagnosed and treated. Affected Population Meningococcemia affects males and females in equal numbers. However, most cases develop in persons twenty years of age or younger and half of these cases are in children under five years of age. In the United States 1.2 cases per 100,000 occur annually. Winter and spring are the most common seasons of the year when cases are reported. Epidemics occur under crowded conditions and tend to occur at 20 to 30 year intervals. In other parts of the world epidemics are usually caused by the Group A strain of the bacteria. During epidemics, rates of 5 to 24 cases per 100,000 persons have occurred. In Sao Paulo, Brazil, during 1974 the epidemic rate was 370 per 100,000 persons infected with Meningococcemia. In the United States, the most prevalent Group strains of the bacteria are B,C,Y, and W135. Related Disorders Symptoms of the following disorders can be similar to those of Meningococcemia. Comparisons may be useful for a differential diagnosis: Rocky Mountain Spotted Fever is a tick-borne disease that begins with an incubation period of from two to twelve days. A gradually or abruptly beginning fever may be followed after three to five days by a pink or purplish colored rash on the wrists and ankles. The fever and rash usually become more severe for seven to fourteen days. The rash may not develop in all cases, possibly making diagnosis difficult. A blood test is necessary to confirm the diagnosis. (For more information on this disorder, choose "Rocky Mountain" as your search term in the Rare Disease Database). Shoenlein-Henoch Purpura is one of a group of disorders characterized by purplish or brownish red discolorations on the skin. These spots may be large or small. Internal bleeding may occur in various areas of the body. This blood vessel disorder may affect the skin, joints, gastrointestinal system, kidneys, and in a very few cases the central nervous system. (For more information on this disorder, choose "Shoenlein-Henoch" as your search term in the Rare Disease Database). Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls. This inflammation causes a narrowing of the inside of the vessel and can obstruct the flow of blood to the tissues. Red or purple patches of discoloration may develop under the skin. Arteries and veins of all sizes and in all parts of the body may be affected. It may be localized or affect multiple areas of the body with inflammatory and destructive lesions. There may be muscle pain, joint pain, fever, weight loss and loss of appetite, headache, and generalized weakness. (For more information on this disorder, choose "Vasculitis" as your search term in the Rare Disease Database). Rheumatic Fever is an inflammatory syndrome that can occur following a streptococcal infection. Patients initially experience moderate fever, a general feeling of ill health, a sore throat, fatigue and a red rash. Major complications can include heart disease, joint pain and arthritis, involuntary abrupt limb movements with characteristic grimaces and skin symptoms. (For more information on this disorder, choose "Rheumatic" as your search term in the Rare Disease Database). Toxic Shock Syndrome symptoms appear very suddenly. Initially, there is a fever of 102 to 105 degrees F, headache, sore throat, and conjunctivitis. Other early symptoms include profound lethargy, periods of disorientation, vomiting, severe diarrhea, and a diffuse sunburn-like rash leading to sloughing of skin after several days. In severe cases, the syndrome may progress to shock (dangerously low blood pressure and circulatory collapse) within forty-eight hours. (For more information on this disorder, choose "Toxic Shock" as your search term in the Rare Disease Database). Infective Endocarditis usually has a very sudden onset. Complaints of low back pain, pain in the joints (arthralgia) or in one or more muscles (myalgia) are common. These symptoms usually appear early in the disease, occasionally as the only initial symptoms. Fever, night sweats, chills, headache and loss of appetite may also occur. Blood or blood cells may be present in the urine (hematuria), small red or purple spots composed of blood (petechiae) may cover the skin of the upper trunk and there may also be pale, oval spots on the retina of the eye. (For more information on this disorder, choose "Endocarditis" as your search term in the Rare Disease Database). Therapies: Standard Meningococcemia is usually treated with Penicillin or Ampicillin. In adults the method of treatment is often through intravenous Penicillin G. In children penicillin is still the treatment of choice, however, other organisms must be ruled out before treatment is begun. For persons who are unable to take penicillin, other antibiotics are used such as: cefuroxime, cefotaxime or ceftriaxone. In persons who survive severe meningococcal septicemia there may be ongoing problems with veins and arteries. There are usually serious orthopedic problems. If gangrene occurs amputation may be necessary. These patients should have continuing medical evaluations as a precaution against other conditions that can arise in later years. During times of epidemics, chemoprophylaxis (Rifampin) is used to protect persons exposed to or in close contact with infected patients. Therapies: Investigational This disease entry is based upon medical information available through May 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Meningococcemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy & Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1611-1617. CLINICAL DERMATOLOGY, 2nd Ed.; Thomas P. Habif, M.D., Editor: The C.V. Mosby Company, 1990. Pp. 210-211. CHONDRO-OSSEOUS GROWTH ABNORMALITIES AFTER MENINGOCOCCEMIA, A CLINICAL AND HISTOPATHOLOGICAL STUDY., Grogan, D.P., et al.; J Bone Joint Surg (AM), July, 1989, (issue 71 (6)). Pp. 920-928. Meningococcemia G (Ac, f,pagetitle 916: Meningococcemia 03998.TXT &Copyright (C) 1989, 1992, 1993 National Organization for Rare Disorders, Inc. 603: Menkes' Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Menkes' Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Steely Hair Disease Kinky Hair Disease Trichopoliodystrophy X-linked Copper Malabsorption X-linked Copper Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Wilson's Disease Primary Biliary Cirrhosis Indian Childhood Cirrhosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Menkes' Disease is a genetic disorder of copper metabolism beginning before birth. Copper accumulates in excessive amounts in the liver, and is deficient in most other tissues of the body. Structural changes occur in the hair, brain, bones, liver and arteries. Symptoms Menkes' Disease primarily affects males and is characterized by stubby, tangled, sparse, steely or kinky hair that is easily broken. The hair is often white, ivory, or gray in color. Unusual facial features include pudgy cheeks and abnormal eyebrows. Affected infants are often born prematurely. Lower than normal body temperature (hypothermia) and excess bilirubin in the blood (hyperbilirubinemia) may occur causing a yellow appearance (jaundice). Hypothermia may also occur in older infants. In some cases, early symptoms may resolve, and normal or slightly slowed development may proceed for two to three months. At approximately three months of age, severe developmental delay, loss of early development skills, and convulsions may occur. Brain abnormalities such as a blood clot at the base of the brain (subdural hematoma) and/or rupture or thrombosis of arteries in the brain may occur. Spastic dementia and seizures may eventually arise. Weakened bones (osteoporosis) due to abnormal copper metabolism can result in fractures. The combination of subdural hematoma and bone fractures may lead to an incorrect diagnosis of child abuse. Emphysema, bladder abnormalities, degeneration of the retina and cysts of the iris have also been described. In some cases, symptoms may be very mild and only a few typical symptoms may appear. Causes Menkes' Disease is inherited as an X-linked recessive trait. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Affected Population An Australian study of Menkes' Disease from 1966 to 1971 suggested an incidence of 1 in 35,500 live births. A 1980 study modified this figure to 1 in 90,000 live births. Other scientists estimate the number of cases to be approximately 1 in 50,000 to 1 in 100,000. Related Disorders Symptoms of the following disorders can be similar to those of Menkes' Disease. Comparisons may be useful for a differential diagnosis: Wilson's Disease is a rare genetic disorder of copper metabolism characterized by excess storage of copper in the body tissues, particularly in the liver, brain and corneas of the eyes. It leads eventually to liver disease, brain dysfunction, and a characteristic rusty-brown colored ring around the cornea of each eye known as a Kayser-Fleischer ring. Symptoms usually do not appear in early infancy and patients do not have the characteristic kinky hair of Menkes' Disease. (For more information on this disorder, choose "Wilson" as your search term in the Rare Disease Database). Primary Biliary Cirrhosis (PBC), also known as Hanot's Cirrhosis, is a rare condition occurring mainly in women. Four pathologic stages occur in increasing severity. Gradual deterioration of the small bile ducts inside the liver causes a blockage in the flow of bile (cholestasis) and liver enlargement. In time, retention of chemicals in the liver cause further damage. Bile acids are absorbed abnormally from the liver into the blood and soft tissues, causing itching accompanied by yellow skin discoloration (jaundice). Dietary and bone problems can also result. Copper retention in the liver, also present in Menkes' Disease, can also occur. (For more information on this disorder, choose "PBC" as your search term in the Rare Disease Database). Indian Childhood Cirrhosis is a familial and probably genetically determined disease. An extremely large amount of copper accumulates in the liver, similar to that of Menkes' Disease. Therapies: Standard Prenatal diagnosis of Menkes' Disease and various forms of intravenous or oral copper supplementation begun early may be of some benefit. Copper nitriloacetate is the only form of copper that has proved to be absorbed from the intestine in Menkes' Disease patients. Genetic counseling may be recommended for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on Menkes' Disease is aimed at the discovery of a form of copper which can bypass the disturbance in copper transport and deliver the copper to the enzymes that require it, especially in the brain. Trials of monoamine oxidase inhibitors are underway since some of the more serious effects of the disease may be the result of defective catecholamine synthesis. Studies of the effects of Vitamin C on copper absorption are also underway to discover methods of releasing some of the high accumulations of copper in the liver and intestines. However, more research is needed to determine long-term effects of these experimental treatments. An investigational treatment using the drug ethambutol is being tested by the members of The Albert Einstein College of Medicine. Doctors who wish to enroll patients in the study may contact: Herbert Scheinberg or Janna C. Collins Albert Einstein College of Medicine 1300 Morris Park Ave., Ullmann 517 Bronx, NY 10461 (212) 430-2091 Scientists are conducting genetic linkage studies to determine if Menkes' Disease and X-linked Ehlers-Danlos are located at the same place on the same gene. These disorders tend to display similar problems with copper metabolism. Families with more than one affected male or carrier females may wish to participate in studies to help determine the exact relationship of the genetic linkage in the two disorders. Interested persons may contact Dr. Yang at (510) 596-6916 or Dr. Packman at (415) 476-4337. Another researcher working on Menkes Disease is Dr. Stephan Kaler. Dr. Kaler is persuing his work at the National Institute of Health, Bldg. 10, Rm. 9S-242, 9000 Rockville Pike, Bethesda, MD, 20892, (301) 496-9101. This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Menkes' Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Corporation for Menkes' Disease 5720 Buckfield Court Fort Wayne, IN 46815 (219) 436-0137 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1414-1415. THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1251-1266. METALLOTHIONEIN GENE REGULATION IN MENKES' SYNDROME: D.H. Hamer; Arch Dermatol (October 1987, issue 123 (10)). Pp. 1384a-1385a. LIFE-SPAN AND MENKES KINKY HAIR SYNDROME: REPORT OF A 13-YEAR COURSE OF THIS DISEASE: C. Sander, et al.; Clin Genet (March 1988, issue 33 (3)). Pp. 228-233. MENKES SYNDROME IN A GIRL WITH X-AUTOSOME TRANSLOCATION: S. Kapur, et al.; Am J Med Genet (February 1987, issue 26(2)). Pp. 503-510. GENETIC DISEASES OF COPPER METABOLISM: J.R. Prohaska; Clin Physiol Biochem (1986, issue 4(1)). Pp. 87-93. Menkes' Disease 'pagetitle 603: Menkes' Disease 03999.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 459: Mesenteritis, Retractile _________________________ ** IMPORTANT ** It is possible the main title of the article (Retractile Mesenteritis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Mesenteric Panniculitis Sclerosing Panniculitis Non-specific Sclerosing Mesenteritis Nodular Mesenteritis Information on the following disease can be found in the Related Disorders section of this report: Weber-Christian Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Retractile Mesenteritis, also known as Mesenteric Panniculitis, is a disorder that affects the digestive tract membranes. It is characterized by infection, inflammation and intestinal obstructions. Major symptoms include abdominal pain, nausea, vomiting, weight loss, and fever. Symptoms Initial symptoms of Retractile Mesenteritis include a general feeling of ill health, fever, weight loss, fatigue, abdominal pain, nausea, and vomiting. The mesentery is a double fold of thin membrane (peritoneum) surrounding part of the intestines and other abdominal organs. This double layered membrane connects the intestines with the posterior wall of the abdominal cavity. Retractile Mesenteritis occurs if this connecting membrane becomes thickened, infiltrated with abnormal cells, fibers, or calcium infiltrated tissue (calcifications). Intestines may become obstructed, abnormally separated, kinked, or grown together. In late stages, patients may have small bowel obstruction and intestinal lymphatic obstruction, producing protein-losing disease of the intestinal tract (enteropathy), excess fat in the stools (steatorrhea), and accumulation of fluid in spaces between tissues and organs in the abdominal cavity (ascites). Since nutrients are not properly absorbed by the body, rapid weight loss can occur if the condition is not properly treated. Causes The exact cause of Retractile Mesenteritis is not known. The changes in the abdominal cavity membrane (mesentery) may be caused by infection, or obstructed blood flow into the membrane due to narrowing of arteries by spasms or other diseases. Affected Population Retractile Mesenteritis tends to affect elderly persons, and occurs in males more often than females. Related Disorders Symptoms of the following disorder can be similar to those of Retractile Mesenteritis. Comparisons may be useful for a differential diagnosis: Weber-Christian Disease is characterized by fever and the formation of crops of nodules in fatty tissue under the skin (subcutaneous tissue). The abnormal nodules may be similar to changes found in abdominal cavity membrane (mesentery) in patients affected by Retractile Mesenteritis. Retractile Mesenteritis is also called "Mesenteric Weber-Christian Disease". However, Weber-Christian usually affects adult women between the ages of twenty and forty years. (For more information on this disorder, choose "Weber-Christian" as your search term in the Rare Disease Database). Therapies: Standard Treatment of infection or inflammation in patients with Retractile Mesenteritis usually consists of the steroid drug prednisone and the immunosuppressant drug azathioprine. Surgery may be necessary if an intestinal blockage does not respond to drug treatment. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Retractile Mesenteritis, please contact National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 References SUCCESSFUL TREATMENT OF A PATIENT WITH RETRACTILE MESENTERITIS WITH PREDNISONE AND AZATHIOPRINE: G.N. Tytgat, et al.; Gastroenterology (August 1980, issue 79(2)). Pp. 352-356. SCLEROSING MESENTERITIS. RESPONSE TO CYCLOPHOSPHAMIDE: R.W. Bush, et al.; Arch Intern Med (March 1986, issue 146(3)). Pp. 503-505. RETRACTILE MESENTERITIS INVOLVING THE COLON: BARIUM ENEMA, SONOGRAPHIC, AND CT FINDINGS: F.J. Perez-Fontan, et al.; AJR (November 1986, issue 147 (5)). Pp. 937-940. Mesenteritis, Retractile pagetitle 459: Mesenteritis, Retractile 04000.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 636: Metaphyseal Chondrodysplasia, McKusick Type _________________________ ** IMPORTANT ** It is possible that the main title of this article (Metaphyseal Chondrodysplasia, McKusick Type) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Cartilage-Hair Hypoplasia Cartilage-Hair Hypoplasia with Short-Limbed Dwarfism CHH Information on the following disorders can be found in the Related Disorders section of this report: Hypochondroplasia Metaphyseal Chondrodysplasia, Jansen Type Metaphyseal Chondrodysplasia, Schmid Type General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Metaphyseal Chondrodysplasia (McKusick Type) is a progressive genetic bone disorder. It is characterized by progressive short-limbed dwarfism caused by abnormal development of the cartilage at the ends of the long bones. Fine sparse hair on the head, eyebrows and eyelashes also occurs. Symptoms Metaphyseal Chondrodysplasia (McKusick Type) is characterized by progressive short-limbed dwarfism. Bones at the periphery of the body such as hands, feet and knees are primarily affected. Fingers are usually excessively flexible (hypermobile). The spine may be affected. The hair is fine and sparse on the head, eyebrows and eyelashes. Adults with this disorder may reach a height of about 4 feet. Symptoms vary greatly in severity, ranging from mild to severe. Causes Metaphyseal Chondrodysplasia (McKusick Type) is inherited through autosomal recessive genes. Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, he or she will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Metaphyseal Chondrodysplasia (McKusick Type) is a rare disorder affecting males and females in equal numbers. The disorder is more common in Finland than in other countries. It was first identified in Amish communities in the United States Related Disorders Symptoms of the following disorders can be similar to those of Metaphyseal Chondrodysplasia (McKusick Type). Comparisons may be useful for a differential diagnosis: Hypochondroplasia is an autosomal dominant genetic disorder characterized by small stature with disproportionately short limbs. Hands and feet are short and broad. The relative shortening of the limbs may be mild. Mild bowleg and heel abnormalities may also be present. The head tends to be broad, with a prominent forehead. Metaphyseal Chondrodysplasia (Jansen Type), also known as Metaphyseal Chondrodysplasia, Murk Jansen Type, is a rare autosomal dominant genetic disorder characterized by progressive, short-limbed dwarfism. The spine, pelvis and lower legs are distorted. The chin recedes and the fingers are very short. Sclerosis occurs in the skull bones, including those of the inner ear, leading to deafness. Metaphyseal Chondrodysplasia (Schmid Type) is a rare autosomal dominant genetic disorder characterized by moderate, progressive shortening of stature. Bowed legs and a waddling gait also occur. Adult height reaches about 140 cm (4 ft., 8 in.). Therapies: Standard Physiotherapy and orthopedic treatment may be helpful for patients with Metaphyseal Chondrodysplasia (McKusick Type). Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Metaphyseal Chondrodysplasia, McKusick Type, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 (301) 649-3275 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF Short Stature Foundation P.O. Box 5356 Huntington Beach, CA 92615-5356 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 488-489, 1107. THE JANSEN TYPE OF METAPHYSEAL CHONDRODYSPLASIA: CONFIRMATION OF DOMINANT INHERITANCE AND REVIEW OF RADIOGRAPHIC MANIFESTATIONS IN THE NEWBORN AND ADULT: J. Charrow, et al.; American Journal Med Genet (June 1984: issue 18(2)). Pp. 321-327. METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE. CLINICAL AND RADIOGRAPHIC DELINEATION WITH A REVIEW OF THE LITERATURE: R.S. Lachman, et al.; Pediatr Radiol (1988: issue 18(2)). Pp. 93-102. Metaphyseal Chondrodysplasia, McKusick Type dy c_ pagetitle 636: Metaphyseal Chondrodysplasia, McKusick Type 04001.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 870: Metatropic Dysplasia I _________________________ ** IMPORTANT ** It is possible that the main title of the article (Metatropic Dysplasia I) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Chondrodystrophy, Hyperplastic Form Dwarfism, Metatropic Metatropic Dwarfism Metatropic Dwarfism Syndrome Metatropic Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Kniest Syndrome Morquio Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Metatropic Dysplasia I is a rare genetic disorder characterized by extremely small stature, with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis which develops into short trunk dwarfism. Symptoms Metatropic Dysplasia I is characterized by abnormal skeletal development. Patients with this disorder typically have short ribs, short deformed arms and legs, kyphoscoliosis (abnormal curvature of the spine) and extremely short stature. A long narrow thorax, bulging joints with limited mobility of the knees and hips, and unusual increased extension of the finger joints are typical features. An unusually long torso, which later develops into short trunk dwarfism due to curvature of the spine, is an early feature of Metatropic Dysplasia I. The spine develops a forward hump-like curvature causing a humpback. X-rays show growth insufficiency of the vertebral column with flattening of vertebrae and often growth insufficiency in the arm and leg bones at the hip and shoulder joints. A crescent-like iliac causing a hump at the end of the spine is also apparent. Causes Metatropic Dysplasia I can be inherited as an autosomal dominant or autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Metatropic Dysplasia I is a very rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Metatropic Dysplasia I. Comparisons may be useful for a differential diagnosis: Kniest Syndrome is a rare type of dwarfism that is characterized by unusually short arms and legs, a round face with hollow or depressed areas, swelling and stiffness of the joints, and a stiff drawing up (contractures) of the fingers. A cleft palate, curvature of the spine (scoliosis), vision and hearing problems may also occur. (For more information on this disorder, choose "Kniest" as your search term in the Rare Disease Database). Morquio Syndrome is a metabolic disorder characterized by an accumulation of keratan sulfate. Bony abnormalities of the head, chest, hands, knees, and spine may occur as a result of this defect. Intelligence is usually normal. The bony abnormalities of the spine can result in spinal cord compression. There also may be enlargement of the liver, curvature of the spine, a back flow of blood from the aortic valve of the heart into the left ventricle of the heart, as well as a loss of hearing. (For more information on this disorder, choose "Morquio" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Metatropic Dysplasia I is symptomatic and supportive. When partial dislocation of the segments of the spinal column at the top of the spine (cervical vertebrae) is present, the joint between the two vertebrae can be fused together. This procedure should be done in order to prevent damage to the cervical part of the spinal cord. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Metatropic Dysplasia I, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Metatrophic Dysplasia Helpline 3393 Geneva Dr. Santa Clara, CA 95051 (408) 244-6354 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Parents of Dwarfed Children 11524 Colt Terr. Silver Spring, MD 20902 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1323. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 318. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1135-36. ODONTOID HYPOPLASIA WITH VERTEBRAL CERVICAL SUBLUXATION AND VENTRICULOMEGALY IN METATROPIC DYSPLASIA: M. Shohat, et al.; J Pediatr (February, 1989, issue 114(2)). Pp. 239-43. Metatropic Dysplasia IE pagetitle 870: Metatropic Dysplasia I 04002.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 709: Microvillus Inclusion Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Microvillus Inclusion Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Congenital Familial Protracted Diarrhea Congenital Microvillus Atrophy Davidson's Disease Familial Enteropathy Information on the following diseases can be found in the Related Disorders section of this report: Lactose Intolerance Familial Chloride Diarrhea Infantile Diarrhea With Abnormal Hair Congenital Sodium Diarrhea General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Microvillus Inclusion Disease causes chronic, severe, watery diarrhea in infants starting at birth or within seventy-two hours after birth. The disorder progresses as the child matures. Symptoms Microvillus Inclusion Disease is characterized by severe, large amounts of watery diarrhea appearing at birth or within seventy-two hours. The diarrhea persists even after oral feeding is stopped and does not decrease with age. Infants affected by this disorder require total intravenous feeding. The diarrhea often results in dehydration and acidosis which may cause kidney failure, requiring the infant to be hospitalized. There may also be related growth retardation and developmental delay. Causes Microvillus Inclusion Disease is thought to be caused by a basic defect in the cells in the intestinal wall (brush-border assembly and differentiation) of the small intestine and colon. It is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Microvillus Inclusion Disease affects males and females in equal numbers. It is evident at birth or within seventy-two hours after birth. Related Disorders Symptoms of the following disorders can be similar to those of Microvillus Inclusion Disease. Comparisons may be useful for a differential diagnosis: Lactose Intolerance is a malabsorption syndrome which results from impaired absorption of a sugar found in milk (lactose). This nutrient are normally absorbed in the small bowel. Lactose Intolerance is characterized by diarrhea and abdominal distention causing stomach pain and gas (flatulence) occuring after ingestion of milk. A lack of one or more intestinal enzymes results in an inability to digest certain carbohydrates. Lactase, maltase, isomaltase, and sucrase usually split complex sugars into simple sugars. In patients with an intolerance for Lactose, the enzyme lactase which digests this sugar in the small bowel is lacking. (For more information on this disorder, choose "Lactose" as your search term in the Rare Disease Database). Familial Chloride Diarrhea is a malabsorption syndrome of autosomal recessive inheritance. This disorder is apparent during the first few weeks of life and is characterized by an abnormally large number of watery stools containing an excess of chloride. Infants born with this disorder are often premature. Infantile Diarrhea with Abnormal Hair is another malabsorption syndrome of autosomal recessive inheritance. The disorder usually develops around the third week of life with a rapidly progressive course. It is characterized by severe unexplained diarrhea, low birth weight and large, low-set, simple ears, flat nasal bridge, and large mouth. Black, kinky hair that easily falls out and a lack of normal amino acids is another feature of this syndrome. Congenital Sodium Diarrhea is inherited as a recessive genetic trait. It occurs as a result of a defective sodium exchange in the bowels. The disorder is usually present at birth and is characterized by profuse watery diarrhea and a swollen abdomen. Therapies: Standard Treatment of Microvillus Inclusion Disease is accomplished through intravenous feeding. There may be long-term complications of the intravenous feeding such as: blood poisoning (septicemia), liver failure (cirrhosis), and gallbladder disorders that affect children with Microvillus Inclusion Disease. Therefore, the affected child must be carefully monitored by a physician. Other treatment of Microvillus Inclusion Disease is symptomatic and supportive. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational Scientists have been testing an analogue of somatostatin (Sandostatin) for treatment of prolonged diarrhea. It shows some promise in decreasing the amount of diarrhea which results in excessive loss of fluid (dehydration). This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Microvillus Inclusion Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MICROVILLUS INCLUSION DISEASE: AN INHERITED DEFECT OF BRUSH-BORDER ASSEMBLY AND DIFFERENTIATION, E. Cutz, et al.; New Eng J of Med, (March, 9, 1989, issue 320 (10)). Pp. 646-651. BIOCHEMICAL ABNORMALITY IN BRUSH BORDER MEMBRANE PROTEIN OF A PATIENT WITH CONGENITAL MICROVILLUS ATROPHY. L. Carruthers, et al.; J Pediatr Gastroenterol Nutr (December, 1985, issue 4 (6)). Pp. 902-907. MICROVILLUS INCLUSION DISEASE: SPECIFIC DIAGNOSTIC FEATURES SHOWN BY ALKALINE PHOSPHATASE HISTOCHEMISTRY. B.D. Lake, J Clin Pathol (August, 1988, issue 41 (8)). Pp. 880-882. Microvillus Inclusion Disease the 1 pagetitle 709: Microvillus Inclusion Disease 04003.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 205: Mikulicz Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Mikulicz Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dacryosialoadenopathy Dacryosialoadenopathia Mikulicz-Sjogren Syndrome Mikulicz-Radecki Syndrome von Mikulicz Syndrome, also known as Mikulicz Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mikulicz Syndrome is a benign chronic lymphocytic infiltration and enlargement of the tonsils, and glands near the ear (parotid), beneath the upper jaw bone (submaxillary), tear (lacrimal), and salivary glands. This condition causes excessive dryness of the mouth and eyes. Symptoms Mikulicz Syndrome is characterized by dryness of the mouth which may cause difficulty in swallowing and tooth decay, absent or decreased tears, and blurred vision. Symmetric, painless, hard swellings (tumefactions) of the tear and salivary glands occur and recur during the course of the disease, which waxes and wanes. Causes The causes of Mikulicz Syndrome are unknown, although it is suspected to be an autoimmune disorder. The disease may be associated with chronic lymphocytic leukemia, lymphosarcoma, Hodgkin's Disease, tuberculosis, sarcoidosis or systemic lupus erythematosus. It can also be part of a familial disorder which often occurs in combination with Sjogren Syndrome. Some scientists have speculated that Mikulicz Syndrome and Sjogren Syndrome may actually be the same disorder. Related Disorders Sjogren Syndrome is a degeneration of the tear and salivary glands which may be associated with arthritis. Malignant and benign salivary gland tumors can also cause swelling of the salivary glands. Mumps is an acute, contagious, generalized viral infection usually causing the painful enlargement of the salivary glands, most commonly those near the ear (the parotids). Parotid enlargement can also be drug-related (e.g., caused by iodides or guanethidine). Obstruction of the duct from the parotid gland to the mouth (Stensen's duct) by a stone can also cause swelling of the parotid gland. Therapies: Standard Diagnosis of Mikulicz Syndrome is accomplished by means of a biopsy. Treatment of this disorder is symptomatic. A soft moist diet can reduce the pain caused by chewing and swallowing. In severe cases, artificial saliva can be used to moisten the mouth, and, in most cases, artificial tears should be used to keep the eyes moist and thus avoid infection. Therapies aimed at treating the underlying cause of the disease may also be initiated. Examples include radiation therapy if the primary condition is Hodgkin's Disease or a lymphosarcoma, antibiotics if the underlying disease is syphilis or tuberculosis, and corticosteroids are applied if the cause is sarcoidosis. If lymphocytic leukemia is the underlying cause, it is usually treated with cancer chemotherapy drugs. If the primary condition is Systemic Lupus Erythematosus (SLE) or Sjogren Syndrome, anti-inflammatory and anti-malarial drugs are prescribed for treating the mild forms of these disorders and corticosteroids are used when the disease is more severe. (For more information of Systemic Lupus Erythematosus and Sjogren Syndrome, please choose "Lupus" and "Sjogren" as your search terms in the Rare Disease database.) Therapies: Investigational This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mikulicz Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 Sjogren Syndrome Foundation 382 Main St. Port Washington, NY 11050 (516) 767-2866 National Sjogren Syndrome Association 3201 W. Evans Dr. Phoenix, AZ 85023 (800) 385-6772 or (602) 993-7227 References THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NJ, 1987. Pp. 2040, 2323. Mikulicz Syndrome pagetitle 205: Mikulicz Syndrome 04004.TXT .c.Copyright (C) 1992 National Organization for Rare Disorders, Inc. 891: Miller Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Miller Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Postaxial Acrofacial Dysostosis Acrofacial Dysostosis, Postaxial Type Genee-Wiedemann Syndrome Acrofacial Dysostosis, Type Genee-Wiedemann Information on the following diseases can be found in the Related Disorders section of this report: Treacher Collins Syndrome Nager Syndrome Goldenhar-Gorlin Syndrome Oral-Digital-Facial Syndrome Juberg-Hayward Syndrome Hemifacial Microsomia General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Miller Syndrome is a very rare genetic disorder. Major symptoms may include shortening of the upper and lower limbs, cupped ears, lower eyelid abnormalities (coloboma) and lack of development of the lower jaw. Symptoms Miller Syndrome is characterized by a lack of development of the lower jaw sometimes with clefting of the soft palate or lip. There is a lack of development of the long bones in the arms and legs causing a shortening of those limbs. The nose may be very broad at the base. There may be missing, webbed or incompletely formed fingers or toes. Downward slanting of the eyelids and incomplete development (coloboma) of the lower eyelid may result in chronic eye infections. The ears may be cupped forward and be lower on the head than normal. Some deformities may cause breathing and swallowing difficulties in the newborn making insertion of breathing and feeding tubes necessary. Occasionally, there may be other problems such as heart defects, the backward flow of stomach or kidney contents, extra nipples, problems with joints in the arms, legs and hips and hearing loss. Causes Miller Syndrome is thought to be caused by autosomal recessive inheritance. However, the exact mode of transmission is still under investigation. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Miller Syndrome is a rare disorder that affects males slightly more often than females in the number of cases reported so far. Related Disorders Symptoms of the following disorders can be similar to those of Miller Syndrome. Comparisons may be useful for a differential diagnosis: Treacher Collins Syndrome is characterized by underdevelopment of the cheek (malar), the lower jaw (mandibular) and jaw bones, slanted eyes, notching of lower eyelids, and a receding chin. Underdevelopment of the jaw may cause problems in swallowing or breathing for the newborn. Tubes may have to be inserted to aid the infant in feeding and breathing. The outer upper area of the ear (pinna) may be malformed as well as the external hearing canal (auditory meatus). The eardrum (tympanic membrane) may be replaced with a bony plate. The combination of a longer than normal face with a beaklike nose, receding chin and acute deafness, are characteristic of people with Treacher Collins Syndrome. (For more information on this disorder, choose "Treacher-Collins" as your search term in the Rare Disease Database). Nager Acrofacial Dysostosis (Mandibulofacial Dysostosis) is a rare hereditary disorder marked by unusual facial development. Cleft lip and palate, defective development of bones in the jaw and arms, smaller than normal thumbs, hearing loss, and ear deformities are characteristics of this disorder. (For more information on this disorder, choose "Nager" as your search term in the Rare Disease Database.) Goldenhar-Gorlin Syndrome is a rare congenital disorder that involves unusual facial characteristics. The facial structure of people with Goldenhar Syndrome may include partial absence of the upper eyelid or an unusual slant of the eyelid, abnormal shape of the skull (asymmetry), the forehead may be sharply prominent, the nostrils may be absent or closed, the roof of the mouth may be clefted (cleft palate), and there may be abnormal growth of the jaw. Paralysis of the eye muscles may occur. Unusual cysts on the eyeball, cysts in fatty tissue at the edge of the eye and skin growths around the ears (skin tags) may also occur. Malformations of the spinal column including open spine (spina bifida), fusion of the top of the spine to the lower edge of the skull, incomplete development of one side of the spinal column and more than the normal number of vertebrae may also be present. (For more information on this disorder, choose "Goldenhar" as your search term in the Rare Disease Database). Oral-Facial-Digital Syndrome is a rare genetic disorder characterized by episodes of neuromuscular disturbances, split tongue, splits in the jaw, midline cleft lip, overgrowth of the membrane that supports the tongue (frenulum), a broad based nose, vertical folds of skin covering the inner angle where the eyelids meet (epicanthic folds), more than the normal number of fingers and/or toes, and shorter than normal fingers and/or toes. (For more information on this disorder, choose "Oral-Facial-Digital" as your search term in the Rare Disease Database). Juberg-Hayward Syndrome (Orocraniodigital Syndrome) is a rare hereditary disorder characterized by cleft lip and palate, a smaller then normal sized head, deformities of the thumbs and toes, and growth hormone deficiency resulting in short stature. Hemifacial Microsomia (HFM) is a syndrome that affects one in 5,000 births. It can be confused with a Treacher Collins-like Syndrome. However, it is not genetic. Although it can cause abnormalities on both sides of the face, they are always uneven whereas in Treacher Collins Syndrome both sides of the face appear equally affected. The facial nerve is frequently paralyzed in Hemifacial Microsomia. The variety of features of HFM include: underdevelopment of the lower jaw, tilting of the face to one side, ear deformities (microtia), facial nerve weakness in forty percent of patients, cleft-like notching of the affected corner of the mouth (macrostomia), and underdevelopment of the cheek and eye on the affected side of the face. Other less common abnormalities include fatty tumors over the eye, abnormalities of the vertebrae and ribs, cleft lip/palate, and heart and kidney abnormalities which are very rare. Therapies: Standard Treatment of Miller Syndrome may consist of surgery to insert breathing and feeding tubes in infants who are unable to breath or eat due to deformities of the palate or jaw. Tubes may also need to be inserted into the ears. There may be a need for multiple plastic surgeries to correct eye and jaw defects. Physical therapy is necessary for aid in walking and using hands. Surgery and speech therapy is often necessary when cleft palate or lip is present. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Scientists are studying various surgical methods to improve the appearance of patients with craniofacial and other birth defects affecting the head, eyes and jaw. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. To participate in this study, families with Miller Syndrome should contact: Eric A. Wulfsberg, M.D. Karen Supovitz, M.S. Division of Human Genetics University of Maryland School of Medicine Baltimore, MD 20201-1703 (410) 328-3815 This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Miller Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Foundation for Nager & Miller Syndromes 721 South Carlisle ST South Bend, IN 46619 (219) 289-5611 NIH/National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE The American Cleft Palate Foundation, Inc. 331 Salk Hall University of Pittsburgh Pittsburgh, PA 15621 (412) 681-9620 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 (800) 535-3643 American Society for Deaf Children 814 Thayer Ave Silver Spring, MD 20910 (301) 585-5400 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1435-1436. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 214-215. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-in-Chief; Blackwell Scientific Publications, 1990. Pp. 45-46. MILLER'S SYNDROME. ANAESTHETIC MANAGEMENT OF POSTAXIAL ACROFACIAL DYSOSTOSIS. Richards, M., Anaesthesia, August, 1987, (issue 42 (8)). Pp. 871-874. PATHOGENESIS OF CLEFT PALATE IN TREACHER COLLINS, NAGER, AND MILLER SYNDROMES., Sulik, K.K., et al,; Cleft Palate J, July, 1989, (issue 26 (3)). Pp. 209-216. discussion 216. A ADAPTATION OF THE MILLER PATIENT CLASSIFICATION SYSTEM FOR THE POSTANESTHESIA CARE UNIT AT CHILDREN'S HOSPITAL OF EASTERN ONTARIO., Kay, J. et al,; J Post Anesth Nurs, August, 1990, (issue 5 (4)). Pp. 239-246. Miller Syndrome /pagetitle 891: Miller Syndrome 04005.TXT `#T#Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 564: Mitral Valve Prolapse Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Mitral Valve Prolapse Syndrome) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms MVPS Mitral Leaflet Syndrome Systolic Murmur Click Syndrome Billowing Posterior Mitral Leaflet Syndrome Mitral Click-Murmur Syndrome Ballooning Posterior Leaflet Syndrome Barlow Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Marfan Syndrome Rheumatic Endocarditis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mitral Valve Prolapse Syndrome is a heart disorder. The exact cause is unknown. It can be a symptom of other disorders such as connective tissue diseases or muscular dystrophy, or it may occur by itself. Major symptoms include chest pain and/or palpitations, accompanied by a heart murmur. An Shortness of breath, fatigue, light-headedness and dizzy spells may, in some cases, progress to an inability to breathe except when sitting in an upright position. There is a characteristic click heard through a stethoscope upon physical examination. Blood may flow back through the heart valve (mitral regurgitation) causing other complications. Symptoms Most patients with Mitral Valve Prolapse Syndrome have no noticeable symptoms. When symptoms appear, fatigue, weakness, palpitations and dizzy spells occur. Others may experience chest pains or have a history of heart murmur. An irregularity of the normal rhythm of the heart (arrhythmia) may develop. Examination with a stethoscope may reveal sounds of multiple clicks and nonejection clicks. The murmurs are identifiable by soft blowing sounds which are variable and may be heard separately or only at certain times. The flow of blood back through the valve (mitral regurgitation) does not occur in all cases and may be trivial, slowly progressive, or sudden and severe. Serious complications may be associated with the use of oral contraceptives in women with mitral valve prolapse. The rest of the cardiac system usually functions normally. In rare cases, mitral valve prolapse may result in inflammation of the sac around the heart (endocarditis), stroke, or congestive heart failure. Causes Mitral Valve Prolapse Syndrome can be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single abnormal gene, contributed by either parent, "overrides" the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a fifty percent chance of inheriting the disorder. Males and females will be affected in equal numbers.) Some cases of Mitral Valve Prolapse may develop as a result of neuroendocrine or autonomic nerve dysfunction. The loosening of the connective tissue which acts as the flap of the valve (mitral valve leaflets) may occur. Additionally the fibrous cords that hold the mitral valve to the interior of the heart wall (chordae tendineae) may become elongated and cause this disorder. Abnormally contracting left ventricular wall segments may also be a cause of MVP, or it may develop after rheumatic fever if the heart is affected. Changes in heart valves may also occur as a consequence of connective tissue disorders. (For more information, choose "Connective Tissue Disorder" as your search term in the Rare Disease Database.) Affected Population Mitral Valve Prolapse affects males and females, but it most often appears in women of childbearing age. Related Disorders Symptoms of the following disorders can be similar to those of Mitral Valve Prolapse. Comparisons may be useful for a differential diagnosis: Marfan Syndrome is an inherited disorder of connective tissue that primarily affects the bones and ligaments, the eyes, the cardiovascular system, and the lungs. People with this disorder are unusually tall, and they have large hands and feet. The most serious symptoms of Marfan Syndrome involve the heart. Untreated, the disorder can cause sudden death; with treatment patients can live a normal life span. (For more information on this disorder, choose "Marfan" as your search term in the Rare Disease Database). Rheumatic Fever is an infectious disease that can occur following streptococcal infections such as strep throat. A few days or weeks after recovery from the strep infection patients experience feelings of ill health (malaise), fatigue and swelling of one or more joints. Major complications can include heart disease, joint pain and arthritis, involuntary abrupt limb movements (chorea) with characteristic facial grimaces, and possible skin symptoms. Treatment should begin as soon as possible, and be maintained for months or even years to help prevent serious complications such as rheumatic heart disease. Rheumatic fever can be avoided if strep throat is vigorously treated and cured with antibiotics. (For more information on this disorder, choose "Rheumatic Fever" as your search term in the Rare Disease Database). Therapies: Standard Testing for mitral prolapse usually involves the following diagnostic tests: chest X-ray, electrocardiogram, echocardiography, cardiac catheterization and angiography, radionuclide studies, exercise testing or ambulatory electrocardiogram (ECG) recordings. Surgery is not usually recommended. However, in rare cases mitral valve prolapse may be treated by replacement of the affected valve. The use of oral contraceptives by women with mitral valve prolapse is contraindicated, and antibiotics should be prescribed before surgical procedures (such as tooth extractions and other minor or major surgery) as a preventive measure to avoid infection. Therapies: Investigational Drugs such as beta blockers and moricizene (Ethmozine) may alleviate many of the heart rhythm abnormalities (arrhythmias and tachycardias) associated with mitral valve prolapse. Other symptoms such as palpitations, dizziness, and fainting spells may also respond to these drugs. This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mitral Valve Prolapse, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Coaltion of Heritable Disorders of Connective Tissue c/o National Marfan Foundation 382 Main St. Port Washington, NY 11050 (516) 944-5412 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles: INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 475-482. MITRAL VALVE PROLAPSE SYNDROME. EVIDENCE OF HYPERADRENERGIC STATE; H. Boudoulas, et al.; Postgrad Med (February 29, 1988, Spec No:). Pp.152-162. COMPLEX VENTRICULAR ARRHYTHMIAS ASSOCIATED WITH THE MITRAL VALVE PROLAPSE SYNDROME. EFFECTIVENESS OF MORICIZINE (ETHMOZINE) IN PATIENTS RESISTANT TO CONVENTIONAL ANTIARRHYTHMICS; C.M. Pratt, et al.; Am J Med (April, 1986, issue 80(4)). Pp. 626-632. MITRAL VALVE PROLAPSE IN WOMEN WITH ORAL CONTRACEPTIVE-RELATED CEREBROVASCULAR INSUFFICIENCY. ASSOCIATED PERSISTENT HYPERCOAGULABLE STATE. M.B. Elam, et al.; Arch Intern Med (January, 1986, issue 146 (1)). Pp. 73-77. Mitral Valve Prolapse Syndromem$ p$pagetitle 564: Mitral Valve Prolapse Syndrome 04006.TXT `![!Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 338: Mixed Connective Tissue Disease (MCTD) _________________________ ** IMPORTANT ** It is possible the main title of the article (Mixed Connective Tissue Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Connective Tissue Disease MCTD General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mixed Connective Tissue Disease is a collagen disorder. MCTD is often used to describe what may be an overlapping group of connective tissue disorders that cannot be diagnosed in more specific terms. The syndrome is characterized by arthritic, cardiac, pulmonary and skin manifestations, kidney disease, muscle weakness, and dysfunction of the esophagus. Symptoms Raynaud's Phenomenon may precede disease manifestations by months or years, and is consists of coldness or numbness of the fingers and/or toes. Raynaud's occurs in approximately eighty-five percent of patients with MCTD. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database). Pain in multiple joints (polyarthralgia) or arthritis similar to rheumatoid arthritis, occurs in almost all patients. Muscle weakness due to inflammation (myopathy) with or without tenderness is also common. Puffiness of the hands with swelling (edema) and increased collagen content in the skin (found in two-thirds of patients with MCTD), may be also be present. Other frequent skin findings include lupus-like rashes (including reddish brown patches), erythematous patches (redness) over the knuckles, violet discoloration of the eyelids, non-scarring loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia). Dysfunction of the esophagus (hypomotility) may be found in eighty percent of patients with MCTD, including many who show no other symptoms. Abnormalities in lung function have been found in eighty percent of patients tested. In some patients, lung involvement may lead to breathing difficulties. Heart involvement appears to be less common in MCTD than lung problems. However, two-thirds of children in one pediatric study had evidence of pericarditis, myocarditis and aortic insufficiency. Kidney disease occurs in only ten percent of patients with MCTD and is often mild. On occasion, however, it can become a major problem. Neurologic abnormalities are noted in only ten percent of patients with MCTD. These findings may include a functional disturbance of facial sensation due to involvement of the fifth cranial nerve (trigeminal sensory neuropathy), a cognitive disorder caused by or associated with impaired brain tissue function (organic mental syndrome), blood vessel constriction causing "vascular" headaches, a mild form of meningitis (aseptic meningitis), seizures, blockage of a cerebral vessel (cerebral thrombosis) or hemorrhage, and various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies). Moderate anemia and a reduction in the white blood cell count (leukopenia) occur in thirty to forty percent of cases. Fever, disease of the lymph nodes (lymphadenopathy), enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and intestinal involvement may also occur in a few cases. MCTD may be similar to, or overlap with systemic lupus erythematosus (SLE), scleroderma, progressive systemic sclerosis (PSS) and polymyositis. For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: Lupus, Scleroderma, PSS, or Polymyositis. Causes The exact cause of Mixed Connective Tissue Disease is unknown, although certain findings suggest that a dysfunction of the immune system may be involved, or in some cases it may be genetic. MCTD appears to be an autoimmune disorder. Autoimmune syndromes are caused by the body's natural defenses (antibodies) against invading organisms which, for unknown reasons, begin to attack healthy tissue. Affected Population Onset of Mixed Connective Tissue Disease can occur from four years of age to eighty years. Average age of onset is thirty seven-years. Approximately eighty percent of patients are female. The disease may occur worldwide. Related Disorders Systemic Lupus erythematosus (SLE) is an inflammatory connective tissue disease that can affect many parts of the body including the joints, skin and internal organs. Lupus is a disease of the body's immune system, most often striking young women between the ages of fifteen and thirty five years. Scleroderma, also known as progressive systemic sclerosis, refers to a group of chronic connective tissue disorders characterized by fibrosis, degenerative changes, and vascular abnormalities in the skin. Scleroderma is characterized by chronic hardening and shrinking of the connective tissues of any part of the body, although the term literally means "hardening of the skin." Polymyositis is a connective tissue disease characterized by inflammatory and degenerative changes in the muscles with some degree of muscle atrophy. For more information on the above disorders, choose "Lupus," "Scleroderma," and "Polymyositis" as your search terms in the Rare Disease Database. Therapies: Standard Although no controlled studies have been performed, many of the manifestations of MCTD appear to respond to therapy with corticosteroids. Mild forms of the disease appear to be controlled by nonsteroidal anti-inflammatory drugs or low doses of corticosteroids. When more severe involvement of major organs occurs, larger doses of corticosteroids may be of benefit. This drug treatment also seems to improve skin symptoms and functioning of the esophagus and lungs. Therapies: Investigational Research into connective tissue diseases is ongoing. The primary goal at this time is to understand the cause. Discovery of the mechanisms which cause this group of diseases would be a major step forward in discovering better treatment or a cure. This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mixed Connective Tissue Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Coalition of Heritable Disorders of Connective Tissue c/o National Marfan Foundation 382 Main St. Port Washington, NY 11050 (516) 944-5412 Arthritis Foundation 1314 Spring Street NW Atlanta, GA 30309 (404) 872-7100 Scleroderma Society 1725 York Ave., Suite 29F New York, NY 10128 United Scleroderma Foundation P.O. Box 350 Watsonville, CA 95077 1-800-722-HOPE (outside CA) Scleroderma Info Exchange 106 Quaker Drive West Warwick, RI 02893 Sjogren's Foundation 29 Gateway Drive Great Neck, NY 11021 (516) 487-2243 National Lupus Foundation 5430 Van Nuys Blvd., Suite 206 Van Nuys, CA 91401 Lupus Foundation of America 1717 Massachusetts Ave. NW, Suite 20 Washington, DC 20036 (209) 328-4550 Lupus Foundation of America Inc. P.O. Box 2446 Victorville, CA 92393 Systemic Lupus Erythematosus Foundation 149 Madison Ave., 10th Floor New York, NY 10016 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References PRIMER ON THE RHEUMATIC DISEASES, 8th Ed: Gerald P. Rodnan, M.D., et. al., eds.; Published by the Arthritis Foundation, Atlanta, GA 1986. Pp. 65-66. Mixed Connective Tissue Disease (MCTD)u" x"pagetitle 338: Mixed Connective Tissue Disease (MCTD) 04007.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 451: Moebius Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Moebius Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Mobius Syndrome Congenital Facial Diplegia Syndrome Congenital Oculofacial Paralysis Information on the following disease can be found in the Related Disorders section of this report: Facioscapulohumoral Muscular Dystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Moebius Syndrome is a hereditary disorder predominately characterized by paralysis of the face. Facial nerve development is absent or diminished causing abnormalities of the facial muscles and jaw. Other central nervous system dysfunctions may cause abnormalities in the hands, hips, and feet. This disorder is thought to be genetic and is present at birth. Mental retardation occurs in approximately ten percent of cases. Symptoms Moebius Syndrome is identifiable at birth by a masklike expression most apparent during crying or laughing. The mouth and eyes may remain open during sleep due to facial nerve or muscle abnormalities. Eyes may become ulcerated because they are not lubricated with sufficient tears in the absence of blinking. Facial weakness or paralysis may cause difficulty in feeding during infancy and later can contribute to speech problems. Muscle paralysis can also cause oral fluid secretions to be breathed into the lungs possibly leading to bronchopneumonia. Abnormal skin folds on each side of the nose next to the eyes (epicanthus), abnormally small eyes, and defective development of the jaw and tongue may also occur. Children with this disorder may have more than five or fewer than five fingers on a hand. Fingers may also be webbed, stiffened, and/or shortened. Toes may also be stiffened in some cases, clubfeet may be present, and the hips may be dislocated at birth. This disorder may also occur in conjunction with Poland Syndrome. (For more information on this disorder, choose "Poland" as your search term in the Rare Disease Database.) Causes Moebius Syndrome is thought to be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Symptoms may be caused by incomplete development of facial nerves, other cranial nerves, and other parts of the central nervous system. Affected Population Moebius Syndrome is present at birth and affects males and females in equal numbers. It is a very rare birth defect. Related Disorders Symptoms of the following disorder can be similar to those of Moebius Syndrome. Comparison may be useful for a differential diagnosis: Facioscapulohumoral Muscular Dystrophy, also known as Landouzy-Dejerine Muscular Dystrophy, involves muscle weakness and wasting of the face, shoulders, and arms. This disorder is genetic and usually begins between nine and twenty years of age although it can begin during early childhood. The face is masklike, flattened and expressionless. Patients are often unable to raise their arms above the head. Shoulder blades are prominent. In later stages, weakness extends to the pelvis and legs. Therapies: Standard Treatment of Moebius Syndrome involves muscle transfer surgery or cosmetic surgery. Abnormal eye muscle alignment due to paralyzed muscles and other muscle abnormalities affecting the face, jaw, hands and/or feet may be corrected. Local eye medication may be helpful if eyes become too dry or ulcerated. A special diet may help prevent aspiration of fluid into the lungs and tube feeding may be necessary during infancy to maintain good nutrition. Speech therapy in conjunction with corrective vocal cord surgery may improve articulation. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Moebius Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Moebius Syndrome Support Group 6449 Gerald Ave. Van Nuys, CA 91406 (818) 908-9288 Moebius Syndrome Support Group 21 Shields Rd. Whitley Bay, Tyne and Wear, NE25, 8UT, England NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Association for Congenital Facial Paralysis 928 Hanover Lane Dyer, IN 46311 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society for the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 About Face 99 Crowns Lane Toronto, Ontario M6R 3PA Canada (416) 944-3223 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References EXTRAOCULAR MUSCLE APLASIA IN MOEBIUS SYNDROME: E.I. Traboulsi, et al.; J Pediatr Ophthalmol Strabismus (May-June 1986, issue 23(3)). Pp. 120-122. ABNORMAL B.A.E.P. IN A FAMILY WITH MOEBIUS SYNDROME: EVIDENCE FOR SUPRANUCLEAR LESION: M. Stabile, et al.; Clin Genet (May 1984, issue 25(5)). Pp. 459-463. MOEBIUS SYNDROME. CASE REPORT WAS A 30-YEAR FOLLOW-UP: D.C. Morello, et al.; Plast Reconstr Surg (September 1977, issue 60(3)). Pp. 451-453. Moebius Syndrome pagetitle 451: Moebius Syndrome 04008.TXT $Copyright (C) 1986, 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 299: Morquio Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Morquio Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mucopolysaccharidosis IV MPS IV Morquio Disease DISORDER SUBDIVISIONS Morquio Syndrome A Galactosamine-6-Sulfatase Deficiency Morquio-Brailsford Syndrome Osteochondrodystrophy Deformans Chondroosteodystrophy Morquio Syndrome B Beta-Galactosidase Deficiency Morquio Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. Morquio Syndrome (MPS IV) exists in 2 forms: Morquio Syndromes A and B are due to a deficiency in the enzyme N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. Deficiency of either enzyme leads to an accumulation of keratan sulfate and bony abnormalities of the head, chest, hands, knees and spine may occur as a result of this metabolic defect, with preservation of intellect. The skeletal abnormalities in MPS IV-B are usually milder than in MPS IV-A. Symptoms Developmental abnormalities occurring in Morquio Syndrome may be detected as early as 18 months to 2 years of age. The skeletal abnormalities are milder in Morquio Syndrome A than in Morquio Syndrome B. These may include an enlarged head, a broad mouth, prominent cheekbones, an unusually small nose, widely spaced and thinly enameled teeth, and widely separated eyes with corneal clouding. Later, patients tend to develop abnormally short necks, short barrel chests, disproportionately long arms, enlarged and possibly hyperextensible wrists, stubby hands and "knock knees". Together with the misaligned knees and knobby joints, the child may be "pigeon-toed", causing a wobbly gait. The joint laxity and bony abnormalities of the spine can result in life-threatening spinal cord compression. Surgery to stabilize the upper cervical spine, usually by spinal fusion, can be lifesaving. There may also be enlargement of the liver, curvature of the spine (thoracic kyphoscoliosis), flow of blood from the aorta back into the left ventricle of the heart (aortic regurgitation), and hearing loss. Causes Morquio Disease is an autosomal recessive hereditary disorder in which a deficiency of galactosamine 6 sulfatase in type A of the disorder, and a deficiency of beta-galactosidase in type B, leads to an accumulation of keratan sulfate in the urine. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Morquio Syndrome affects males as often as females. The disorder occurs in less than 1 in 100,000 live births except in the French-Canadian population where it is known to be the most common type of mucopolysaccharidoses. Related Disorders There are many types of Mucopolysaccharidosis. Information about each of these types of MPS can be located in the Rare Disease Database. (For more information, choose "MPS Disorders" as your search term in the Rare Disease Database.) DiFerrante syndrome (mucopolysaccharidosis VIII) is a disorder described in a single patient with clinical and biochemical features of Morquio and Sanfilippo syndromes. The disorder had been reported to be due to a deficiency of glucosamine-6-sulfate sulfatase. Subsequently, this disorder was called MPS VIII (DiFerrante syndrome). Dr. DiFerrante later found that the enzyme was normal in his patient, and the disorder had been misdiagnosed. Therefore, DiFerrante syndrome is not a valid medical disorder. The Mucolipidoses are a family of similar disorders, producing symptoms very much like those of the Mucopolysaccharidoses. I-cell disease, or Mucolipidosis Type II, resembles Hurler syndrome and the two disorders are very difficult to distinguish. I-cell disease has similar physical and mental deterioration as MPS I, but usually occurs earlier and is more severe. I-cell diseases is characterized by diffused deficiency of lysosomal enzymes with the cell and is not associated with excretion of mucopolysaccharides in the urine. Pseudo-Hurler Polydystrophy (Mucolipidosis III) is also transmitted by autosomal inheritance, but it is characterized by a deficiency of multiple lysosomal enzymes needed to break down mucopolysaccharides. ML III affects males more often than females, and can be identified by such symptoms as claw-like hands, somewhat coarse facial features, dwarfism and pain in the hands. Intelligence tends to be normal in most patients, but mild mental retardation is sometimes present. Ganglioside Sialidase Deficiency (Mucolipidosis IV) is a disorder of unknown cause characterized by early clouding of the cornea, mild to moderate mental retardation and enlargement of spleen and liver. (For more information on the Mucolipidoses, choose "ML Disorder" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Morquio Syndrome is symptomatic and supportive. Physical therapy and special educational services may be helpful. Genetic counseling may be helpful to the parents of patients with Morquio Syndrome. Prenatal diagnosis is now possible for this disorder. Therapies: Investigational Since prenatal diagnosis is now possible through amniocentesis and sampling of a tissue layer in the embryo (chorionic villus sampling), new treatments aimed at checking early development of Morquio Syndrome are now under study. One method involves replacing defective enzymes via enzyme replacement therapy and/or bone marrow transplants. Scientific study of gene replacement in animal models raises the hope that gene replacement may someday be made available to people with genetic disorders such as Morquio Syndrome. The Mayo Clinic is investigating the use of Alpha Interferon as a treatment for Morquio Syndrome. For more information, physicians can contact: Morie A. Gertz, M.D. Dept. of Hematology & Internal Medicine Mayo Clinic Rochester, MN 55905 (507) 284-2511 This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Morquio Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 MPS (Mucopolysaccharidoses) Research Funding Center, Inc. 1215 Maxfield Road Hartland, MI 48029 (313) 363-4412 National MPS Society 17 Kramer Street Hicksville, NY 11801 (516) 931-6338 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Society of Mucopolysaccharide Diseases, Inc. 382 Parkway Blvd. Flin Flon, Manitoba, Canada R8A OK4 Society of MPS Diseases 30 Westwood Drive Little Chalfont, Bucks, England For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MPS Society Brochure. BIRTH DEFECTS COMPENDIUM, 2nd ed.: Daniel Bergsma, ed: March of Dimes, 1979. P. 732. MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A McKusick; Johns Hopkins University Press, 1983. Pp. 840-841.. Morquio Syndrome %pagetitle 299: Morquio Syndrome 04009.TXT - -Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc. 656: Motor Neuron Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Motor Neuron Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Motor Neurone Disease Motor Neuron Syndrome Motoneuron Disease Motoneurone Disease Disorder Subdivisions: Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease) Primary Lateral Sclerosis Werdnig-Hoffmann Disease (Infantile Spinal Muscular Atrophy) Kugelberg-Welander Syndrome (Juvenile Spinal Muscular Atrophy) Spinal Muscular Atrophy Progressive Bulbar Palsy (Duchenne's Paralysis) Benign Focal Amyotrophy Information on the following diseases can be found in the Related Disorders section of this report: Benign Congenital Hypotonia Nemaline Myopathy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Motor Neuron Disease is a group of serious disorders characterized by progressive degeneration of motor neurons (neurons combine to form nerves). Motor neurons control the behavior of muscles. Motor Neuron Diseases may affect the upper motor neurons, nerves that lead from the brain to the medulla (a part of the brain stem) or to the spinal cord, or the lower motor neurons, nerves that lead from the spinal cord to the muscles of the body, or both. Spasms and exaggerated reflexes indicate damage to the upper motor neurons. A progressive wasting (atrophy) and weakness of muscles which have lost their nerve supply indicate damage to the lower motor neurons. Symptoms Generally, a Motor Neuron Disease is characterized by muscle weakness, wasting (atrophy), and normal intellectual functioning. For specific symptoms, see each of the forms of Motor Neuron Disease in the Disorder Subdivision section. The different forms affect certain motor neurons, thus certain symptoms are associated with each of them. Also, there may be overlap of the different forms, thus overlap of their associated symptoms. DISORDER SUBDIVISIONS Debate still exists on whether there are distinct forms of Motor Neuron Disease or if they are variants of Amyotrophic Lateral Sclerosis. Symptoms of the different forms may overlap. AMYOTROPHIC LATERAL SCLEROSIS (LOU GEHRIG'S DISEASE) or 'ALS' is the most well known Motor Neuron Disease. It affects both the upper and lower motor neurons. Clumsy hands, weakness in the legs, or difficulty in swallowing and slow speech may be the first signs. The disease progresses to involve muscles all over the body. Coughing, difficulty in breathing, progressive wasting and weakness, and spasticity or stiffness of muscles may occur. ALS affects adults, men more than women, usually between the ages of 40 and 70. (For more information on this disorder, choose "ALS" as your search term in the Rare Disease Database). PRIMARY LATERAL SCLEROSIS affects adults. It is characterized by progressive degeneration of the upper motor neurons. Difficulty in speech and swallowing, semi- or complete paralysis of the legs and/or arms, and muscle twitching and spasticity may occur. Males and females are affected equally by this rare disease. (For more information on this disorder, choose "Primary Lateral Sclerosis" as your search term in the Rare Disease Database.) WERDNIG-HOFFMANN DISEASE (INFANTILE SPINAL MUSCULAR ATROPHY) is a severe Motor Neuron Disease that affects infants. It is characterized by weakness, twitching, and wasting of the muscles of the body. Breathing, excretory, and feeding difficulties may occur. It is a hereditary form of Motor Neuron Disease. The more serious and progressive form of Werdnig-Hoffmann Disease becomes evident within the first few months of life. This rare disease is estimated to occur in 1 out of every 1,000,000 live births per year. It affects males and females equally. (For more information on this disorder, choose "Werdnig-Hoffmann" as your search term in the Rare Disease Database). KUGELBERG-WELANDER SYNDROME (JUVENILE SPINAL MUSCULAR ATROPHY) is a serious disorder usually appearing in the first ten to twenty years of life. It is characterized by muscle wasting and weakness in the arms and legs, twitching, difficulties in walking, and eventual loss of reflexes. The muscles of the eye, heart, and anal sphincter (ring of muscles that prevents passage of feces) may be affected causing vision problems, irregular heartbeat, and loss of bowel control. Kugelberg-Welander is a hereditary form of Motor Neuron Disease. This rare disease tends to have a higher incidence and severity in males than in females. (For more information on this disorder, choose "Kugelberg-Welander" as your search term in the Rare Disease Database). PROGRESSIVE SPINAL MUSCULAR ATROPHY is a slowly progressive Motor Neuron Disease. Muscle weakness and wasting may begin in the hands and eventually affect the arms, shoulders, legs, and the rest of the body. Muscle twitching may occur in the limbs and tongue. PROGRESSIVE BULBAR PALSY is a severe Motor Neuron Disease usually occurring in childhood. It affects the muscles of the tongue, lips, palate, pharynx (back of the throat), and larynx ('voice-box'). Weakness and wasting of these muscles may cause difficulties in chewing, swallowing, and talking. Respiratory problems may also occur. Causes The exact cause of most types of Motor Neuron Disease is not known. Werdnig-Hoffmann Disease, Kugelberg-Welander Syndrome, and Progressive Bulbar Atrophy are forms of Motor Neuron Diseases that effect children or young adults. They are inherited as an autosomal recessive trait. Human traits including the classic genetic diseases are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population The affected populations of the different forms of Motor Neuron Disease varies. In general, all forms are rare. For more information, see the specific forms in the Disorder Subdivisions section. Related Disorders Symptoms of the following disorders can be similar to those of Motor Neuron Disease. Comparisons may be useful for a differential diagnosis: Benign Congenital Hypotonia is a nonprogressive neuromuscular disorder affecting newborns. It is characterized by muscle weakness or 'floppiness.' The cause of this disorder is not known and symptoms may improve with age. (For more information on this disorder, choose "Hypotonia" as your search term in the Rare Disease Database). Nemaline Myopathy is a hereditary muscular disease affecting newborns. It is characterized by muscle weakness or 'floppiness.' The limbs and trunk are affected which may affect posture. Reflexes may be absent. There may be swallowing and breathing problems. Although progression occurs, some improvement may be seen as the muscles grow. (For more information on this disorder, choose "Nemaline" as your search term in the Rare Disease Database). Symptoms of other neuromuscular diseases may mimic Motor Neuron Disease. Examination by a neurologist is necessary to determine if the patient has motor neuron disease or another type of neuromuscular disease. Therapies: Standard Treatment of Motor Neuron Disease is symptomatic and supportive. Certain drugs may be used to control muscle symptoms: baclofen for spasticity, quinine for cramps, diazepam for muscular contractions, and pyridostigmine to improve nerve-to-muscle message transmission. Various respiratory aids can be used to help a patient breathe. When swallowing becomes difficult, nutrition can be maintained by the use of various devices or by the use of softer more nutritious foods. Methods that help control excess saliva if the patient has difficulty swallowing may also be used. Devices that help the patient continue daily activities such as braces, hand splits, limb supports, or a wheelchair are important. Bedridden patients can be made more comfortable with sheepskins or water mattresses. Genetic counseling may be of benefit to patients and their families with a hereditary form of Motor Neuron Disease. Therapies: Investigational Scientists are conducting extensive ongoing research on Motor Neuron Diseases in the areas of nerve growth factors, axonal transport, androgen receptors in motor neurons, DNA/RNA changes, and metabolic studies of the neuromuscular junction. Several drug studies are underway to learn if pharmaceuticals may slow the progression of these disorders. Syntex-Synergen Neuroscience of Boulder, CO, is sponsoring an orphan product for the treatment of motor neuron diseases. The chemical name is ciliary neurotrophic factor, recombinant human. This disease entry is based upon medical information available through June 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Motor Neuron Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The Amyotrophic Lateral Sclerosis Society 21021 Ventura Blvd., Suite 321 Woodland Hills, CA 91364 (818) 340-7500 For information about Motor Neuron Diseases that occur during childhood: Families of Spinal Muscular Atrophy P.O. Box 1465 Highland Park, IL 60035 (708) 432-5551 For genetic information and genetic counseling referrals for inherited Motor Neuron Diseases: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 NIH/National Center for Education in Maternal and Child Health (NCEMCH) 38th & R Streets, NW Washington, DC 20057 (202) 625-8400 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 683. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2243-2244. Motor Neuron Disease#. &.pagetitle 656: Motor Neuron Disease 04010.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 619: Mountain Sickness, Acute _________________________ ** IMPORTANT ** It is possible that the main title of the article (Acute Mountain Sickness) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms AMS Mountain Sickness High Altitude Illness Hypoxia Puna Soroche Mareo Disorder Subdivisions: High Altitude Pulmonary Edema (HAPE) High Altitude Cerebral Edema (HACE) Information on the following diseases can be found in the Related Disorders section of this report: Subacute Infantile Mountain Sickness General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Acute Mountain Sickness is a group of symptoms that may occur in some people who ascend rapidly to altitudes higher than 8200 ft. (2500 m). Major symptoms may include headaches, nausea, vomiting, and insomnia. Symptoms Acute Mountain Sickness may occur during the first 8 to 24 hours after a person reaches a high elevation (altitude). The occurrence, severity, and duration of Acute Mountain Sickness varies with the rate and ultimate height of the climb and with an individual's susceptibility. Headache, poor appetite, nausea, vomiting, tiredness, and poor sleep may occur. There may be abnormal sounds during breathing (rales), bleeding of the retina (light-sensitive layer inside the eye), and excess fluid under the skin (peripheral edema). Decreased urination (oliguria), inability to coordinate voluntary muscle movements (ataxia), and impaired thinking may also occur. Severe (Chronic) Mountain Sickness patients may develop oxygen-deficient tissues (hypoxia) and excessive amounts of red blood cells (polycythemia). Causes Symptoms of Acute Mountain Sickness occur because there is less oxygen at higher altitudes, and the body's tissues receive less oxygen. People may be susceptible to Acute Mountain Sickness if their cells need more oxygen than normal or if they cannot tolerate decreased oxygen levels at high altitudes. People that urinate infrequently are especially susceptible to Acute Mountain Sickness. Affected Population Acute Mountain Sickness affects males and females in equal numbers when they ascend to high altitudes very rapidly. Related Disorders Symptoms of the following disorders can be similar to those of Acute Mountain Sickness. Comparisons may be useful for a differential diagnosis: Subacute Infantile Mountain Sickness is a severe disorder of infants. It may occur when infants are born at low altitudes and then taken to higher elevations. Thickening of the arteries to the lungs and enlargement of their openings may occur. There may also be thickening and enlargement of the cavities of the heart. The following disorders may be associated with Acute Mountain Sickness as secondary characteristics. They are not necessary for a differential diagnosis: High Altitude Pulmonary Edema (HAPE) is a severe complication of Acute Mountain Sickness which involves high levels of fluids, proteins and cells in the lung. Symptoms may include breathing difficulties, coughing, abnormal sounds during breathing, and rapid heart beat. The skin may turn blue or purple (cyanosis). Headaches, vomiting, memory problems, disorientation, loss of consciousness, bleeding of the retina, and excessive fluid in the optic disks (papilledema) may also occur. High Altitude Cerebral Edema (HACE) is a severe consequence of Acute Mountain Sickness which involves extra fluid in the brain. It may occur when the central nervous system is deprived of oxygen. Symptoms may include headaches, inability to coordinate voluntary muscle movements (ataxia), and loss of consciousness. Double vision (diplopia), visual and auditory (hearing) hallucinations, and papilledema may also occur. Therapies: Standard Descending from a high altitude is the most successful treatment for Acute Mountain Sickness. For mild cases, rest, frequent small meals, no alcohol, and acetaminophen for headache may be all that is needed. Dexamethasone, an anti-inflammatory and anti-allergic drug, and the diuretic acetazolamide may be used for more severe cases. To prevent Acute Mountain Sickness , a slow climb, staying 2 to 5 days at a middle altitude (staging), or the use of the drug dexamethasone or acetazolamide may be recommended. Therapies: Investigational Researchers are investigating oxygen therapy and the combination of dexamethasone and acetazolamide for the treatment of Acute Mountain Sickness. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Acute Mountain Sickness, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Institute of Environmental Health Sciences Public Affairs Office P.O. Box 12233 Research Triangle Park, NC 27709 (919) 541-3345 References CURRENT CONCEPTS: ACUTE MOUNTAIN SICKNESS: T.S. Johnson, et al.; N Engl J Med (September 29, 1988: issue 319(13)). Pp. 841-845. CLINICAL FEATURES OF PATIENTS WITH HIGH-ALTITUDE PULMONARY EDEMA IN JAPAN: T. Kobayashi et al.; Chest (November, 1987: issue 92(5)). Pp. 814-821. HIGH ALTITUDE CEREBRAL OEDEMA: C. Clarke; Int J Sports Med (April, 1988: issue 9(2)). Pp. 170-174. Mountain Sickness, Acute pagetitle 619: Mountain Sickness, Acute 04011.TXT "Copyright (C) 1989 National Organization for Rare Disorders, Inc. 617: Moyamoya Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Moyamoya Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Moya Moya Disease Moya-moya Disease Moyamoya Syndrome Cerebrovascular Moyamoya Disease Information on the following diseases can be found in the Related Disorders section of this report: Cerebrovascular Accident (CVA) or (Stroke) Cerebral Vascular Malformations General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Moyamoya disease is a progressive disease that effects the blood vessels in the brain (cerebrovascular). It is characterized by narrowing and/or closing of the main artery to the brain (carotid). This lack of blood may cause paralysis of the feet, legs or the upper extremities. Headaches, various vision problems, mental retardation, and psychiatric problems may also occur. Symptoms Moyamoya disease may occur at any age. The age of onset tends to determine the various symptoms. Cerebral bleeding (hemorrhage) and anemia, headaches, speech disorders, and sudden onsets of recurrent paralysis usually occur in juvenile Moyamoya patients. Children afflicted with Moyamoya disease may have convulsions or involuntary movements. Some may show signs of mental retardation. Patients tend to develop one or more of the following visual disturbances: blindness in one half of the visual field of one or both eyes (hemianopia), double vision (diplopia), bilaterally (right and left) decreased visual clearness (acuity), and the inability to recognize objects. Fainting, intracranial hemorrhage below the middle covering of the brain (subarachnoid) followed by accumulation of excessive amounts of watery fluid in the optic disks (papilledema) may also occur. Neurosis (mainly anxiety) usually occurs in adult Moyamoya patients. Patients usually have sudden insufficiencies of blood supplies in the brain (cerebral infarctions) which can lead to brain tissue death. Causes The exact cause of Moyamoya disease is not known. It is thought to be inherited as an autosomal recessive trait in a small number of cases. (Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Studies suggest oral contraceptive use may possibly contribute to a small number of Moyamoya cases in women, although this has not been definitely confirmed. Pregnancy may also contribute to the development of Moyamoya. Affected Population Moyamoya disease occurs mainly in females under the age of 20, particularly of Japanese origin. In one Japanese study, 7% of the cases were familial. Familial cases, including identical twins, have also been reported in Europe. Related Disorders Symptoms of the following disorders can be similar to those of Moyamoya disease. Comparisons may be useful for a differential diagnosis: A Cerebrovascular Accident (stroke) occurs because the blood supply to the brain has been cut off or decreased. Thrombotic strokes occur when a clot has narrowed or completely closed an artery in the neck or head. This is the result of the buildup of fat-containing materials and calcium (plaque) on the inner linings of the blood vessels. Embolic strokes occur when a clot breaks away from the diseased artery in another part of the body and clogs a smaller artery in the brain. Hemorrhagic strokes occur when a blood vessel ruptures in or around the brain, depriving that area of blood. Each type of stroke has its own symptoms, progression, and prognosis. Clumsiness, headaches, speech difficulties, weakness or complete paralysis of one or both sides of the body may occur. Stiff neck, nausea, vomiting, and unconsciousness are also common symptoms. Vascular malformations (abnormal blood vessels) of the brain are classified into arteriovenous malformations (abnormal arteries and veins), cavernous malformations (enlarged channels of blood vessels), venous malformations (abnormal veins), and the telangiectasias (enlarged capillary-sized vessels). Malformations in the brain may cause recurrent headaches, seizures, and hemorrhaging. Hemorrhaging in the brain may cause cerebrovascular accidents (strokes). Therapies: Standard Angiograms and Magnetic Resonance Imaging (MRI) are diagnostic tests that can show the brain's blood vessels to see if they are indicative of Moyamoya disease. Effective treatment of Moyamoya has been unsuccessful in the past; however, surgical treatment and drug therapy research is encouraging. There are five surgical treatments currently in use: Encephalomyosynangiosis (EMS), Encephaloduroarteriosynangiosis (EDAS), Encephalomyoarteriosynangiosis (EMAS), Superficial Temporal-to-Middle Cerebral Artery (STA-MA) Bypass, and Indirect Non-Bypass Revascularization. Response of patients to these complex and very complicated surgeries varies. Drug therapy now in use is intravenous administration of verapamil, a calcium-channel blocker which dilates certain blood vessels. The disease may also stabilize after a progressive course. Genetic counseling may be of benefit for patients and their families if they have the hereditary form of Moyamoya Disease. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers are investigating two types of drugs that may be effective in treating Moyamoya disease: calcium-channel blockers and anti-aggregating (anti-blood clotting) drugs. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Moyamoya Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Families with Moyamoya Network 14197 E. Kansas Pl., #105 Aurora, CO 80012 1282 Skylark Dr., RR #3 Cedar Rapids, IA 52403 (319) 362-8315 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Children's Brain Diseases Foundation for Research 350 Parnassus, Suite 900 San Francisco, CA 94117 (415) 566-5402 (415) 565-6259 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1068. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2213-2214. CEREBRAL INFARCTION DUE TO MOYAMOYA DISEASE IN YOUNG ADULTS: A. Bruno, et al.; Stroke (July, 1988: issue 19(7)). Pp. 826-833. OCULAR SYMPTOMS OF MOYAMOYA DISEASE: S. Noda, et al.; Am J Ophthalmol (June 15,1987: issue 103(6)). Pp. 812-816. PITFALLS IN THE SURGICAL TREATMENT OF MOYAMOYA DISEASE. OPERATIVE TECHNIQUES FOR REFRACTORY CASES: S. Miyamoto et al.; J Neurosurg (April, 1988: issue 68(4)). Pp. 537-543. TREATMENT OF ACUTE DEFICITS OF MOYAMOYA DISEASE WITH VERAPAMIL: M.J. McLean et al.; Ann Acad Med Singapore (January, 1985: issue 14(1)). Pp. 65-70. Moyamoya Disease $pagetitle 617: Moyamoya Disease 03980.TXT +Copyright (C) 1987, 1989, 1990 National Organization for Rare Disorders, Inc. 336: Measles _________________________ ** IMPORTANT ** It is possible the main title of the article (Measles) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Rubeola Morbilli Nine Day Measles General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Measles is a highly contagious disease occurring primarily in children. This disease is characterized by fever, cough, acute nasal mucous membrane discharge (coryza), inflammation of the lining of the eyelids (conjunctivitis), a spreading rash, and eruption of small, irregular, bright red spots (Koplik's spots) on the inner cheeks in the mouth with a minute bluish or white speck in the center of each. Because measles can be contracted from someone whose symptoms have not yet appeared, it is often difficult to avoid exposure. Measles ceases to be contagious four days after appearance of the rash. Although concerted efforts have been made to eliminate measles in the United States, increasing numbers of cases have been reported recently in some areas. This may be due in part to a drastic rise in the cost of vaccine, shortage of supplies due to liability insurance problems, or fear by the public of possible side effects of vaccines. This is in spite of strict observance of immunization/attendance requirements by school officials. However, parents may underestimate the need for this immunization. Usually measles and the danger of its complications can be avoided by timely immunization. Symptoms Measles usually begins like a common cold after a seven to fourteen day incubation period, with sinus congestion, a runny nose, a cough, and red, irritated eyes. Two days later, although often unnoticed, Koplik's spots (small red spots with blueish-white specks in the center) form inside the mouth opposite the molars. After four days of these worsening symptoms, a telltale rash appears first on the face and neck, then on the trunk, arms and legs. Patients may have some degree of sensitivity to light. After two to four days of listlessness, the rash, cough, stuffiness and red eyes (conjunctivitis) abruptly improve. If no complications have set in, measles has run its course by the tenth day. Measles patients can have lowered resistance to infections such as bronchitis, ear infections, or other bacterial infections. Possible direct complications may include pneumonia and inner ear infections such as otitis media and mastoiditis which can possibly lead to deafness. Encephalitis, which occurs in up to one out of 1,000 measles cases, can result in mental retardation. In some extreme cases, corneal ulceration may occur. Measles virus may also be associated with Subacute Sclerosing Panencephalitis (SSPE), a slow virus infection. (Slow viruses may stay dormant in humans for extended periods of time, then for reasons yet unknown, may become reactivated.) SSPE is a chronic brain disease of children and adolescents that can occur months to years (usually years) after an attack of measles. SSPE can cause intellectual deterioration, convulsive seizures, coma and motor abnormalities. (For more information on this disorder, choose "SSPE" as your search term in the Rare Disease Database.) Causes Measles is caused by a paramyxovirus. The virus infiltrates the nose and mouth (nasopharynx), and is highly contagious. Affected Population Measles affects males and females equally, and can occur worldwide. Supposedly on the verge of extinction in the United States in 1983 when only 1,497 cases were reported, measles (rubeola) rebounded to a total of 2,813 in 1985. As of May 1986, a total of 1,976 Americans (more than in all of 1983) had been afflicted. The licensing of the first widely used measles vaccines in 1963, followed shortly by an improved version, reduced the number of reported cases from a pre-vaccine total of 525,000 annually to the record low in 1983, which reflects a ninety-nine percent decline. Related Disorders Rubella, or three-day measles, is marked by mild constitutional symptoms that may result in abortion, stillbirth, or congenital defects in infants born to mothers infected during the early months of pregnancy. Other symptoms may include a two to three week incubation period with no recognizable symptoms, mild course of short duration, low fever, rash (less extensive than other types of measles), a reddish flush simulating that of scarlet fever which may be noticed on the face, enlargement of lymph nodes, and a normal blood count. Symptoms are usually mild in children with Rubella. Adults characteristically experience fever, discomfort, headache, weakness or exhaustion, stiff joints, and mild nasal membrane inflammation (rhinitis). Encephalitis is a rare complication that has occurred during extensive outbreaks of rubella among young adults in the armed services. Transient testicular pain is also a frequent complaint in affected adult males. (For more information on rubella, choose "rubella" as your search term in the Rare Disease Database, and see the related article in the Prevalent Health Conditions/Concerns area of NORD Services.) Scarlet Fever is an infection caused by a bacteria that usually affects the mouth/throat area (pharynx), but may also affect the skin or birth canal. Patients may experience headache, abdominal pain, nausea, and a skin rash. Rarely, complications are lymphocytic meningitis and hepatitis. A reddish flush may be apparent on the face, chest and extremities, with tiny red spots in some cases. The disease is much milder now than in the past, and complications are rare when properly treated. Roseola Infantum (Exanthem Subitum or Pseudorubella) is an acute disease of infants or very young children characterized by high fever, absence of localizing symptoms or signs, and appearance of red spots (a rubelliform eruption) simultaneously with, or following, lowering of the fever (defervescence). The cause and mode of transmission are not known, but the disease is probably communicable and caused by a neurodermotropic virus. It occurs most often in the spring and fall. Minor local epidemics have been reported. Atypical Measles Syndrome (AMS) is most common in adolescents and young adults and usually associated with prior immunization using the original killed measles vaccines, which are no longer in use. However, live measles vaccine administration has also been known to precede development of AMS, perhaps as a result of inadvertent inactivation due to improper storage. Presumably, inactivated measles virus vaccines do not prevent wild virus infection and can sensitize patients so that disease expression is altered significantly. AMS may begin abruptly, with high fever, toxicity, headache, abdominal pain, and cough. The rash may appear one to two days later, often beginning on the extremities. Swelling (edema) of the hands and feet may occur, pneumonia is not uncommon, and nodular densities in the lungs may persist for three months or longer. Therapies: Standard In general, once a person is infected, there is little to do other than let measles run its course, and make the patient as comfortable as possible. The use of aspirin to treat viral diseases in children and young adults should be avoided because of the risk of Reye Syndrome, a rare but life-threatening condition. (For more information on this disorder, choose "Reye" as your search term in the Rare Disease Database.) Bed rest and a light diet seem to be of benefit. Vaccination for measles is the most effective method found to prevent outbreaks of measles. Vaccine failure occurs in just ten percent of cases. The vaccine approved in 1963 is no longer in use. Anyone who received one of these vaccines between 1962 and 1969 should be reimmunized with the current vaccine. This new live vaccine is strong enough to produce immunity to measles, but not so strong as to produce severe reactions. The age for vaccination has also changed. Currently, measles vaccination is now recommended at fifteen months - after antibodies passed on by the mother have disappeared. Some authorities advocate lowering the age to twelve or even six months, with revaccination at fifteen months, when measles is usually epidemic. Children should be vaccinated before exposure to measles, or within seventy-two hours of exposure, if the protection is to be effective. The American Academy of Pediatrics recommends that an initial immunization of measles, mumps, and rubella (MMR) be given at fifteen months of age and a second MMR immunization be given at the beginning of middle school or junior high school. The new recommendation for measles immunization consists of two doses of vaccine - one at 15 months of age and the second one at four to six years of age. Students entering college and medical personnel with direct patient contact should also have a second vaccination. (For more information concerning vaccination schedules, see "New Recommended Schedule for Active Immunization of Normal Infants & Children" in the Prevalent Health Conditions/Concerns area of NORD Services.) Pregnant women exposed to measles should have their immunity tested to avoid possible risk to their unborn babies. Rubella, more than any other type of measles, can pose a great risk to fetuses. Therapies: Investigational The number of anti-viral agents which may be useful in treating measles is still limited. Immunoglobulins and interferons, as well as a variety of immune stimulators or immune modulators, are possible therapies that are still undergoing further investigational evaluation at this time. This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Measles, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References MEASLES ON THE REBOUND: Stephen J. Ackerman; FDA Consumer (October 1986, issue). Pp. 18-21. IMMUNOTHERAPY IN VIRUS DISEASES: H. Schulte-Wissermann, et. al.; Monatsschr Dinderheilkd (April 1986, issue 134(4)). Pp. 172-81. Measles ,pagetitle 336: Measles 03981.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 661: Meckel Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Meckel Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Meckel-Gruber Syndrome Gruber Syndrome Dysencephalia Splanchnocystica Information on the following diseases can be found in the Related Disorders section of this report: Smith-Lemli-Opitz Syndrome (SLO Syndrome; RSH Syndrome) Joubert Syndrome Potter's Syndrome Ullrich-Feichtiger Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Meckel Syndrome is a rare inherited disorder. Major symptoms may include, congenital deformities of the brain resulting in mental retardation. Malformations of the hands and feet, and bone deformities of the arms and legs may also occur. In males genitals may fail to develop properly. Kidney, pancreas and liver may also be abnormal. Symptoms The symptoms which identify Meckel Syndrome consist of brain abnormalities and failure of the brain to fully develop. Additionally, cystic growths in the kidneys and fibrous growths in the ducts of the liver and pancreas may occur. More than five fingers on the hands may be present as well as more than five toes on the feet and shortening or bowing of the long bones of the arms and legs. In males the testicles may contain abnormal cysts and they may fail to descend or grow properly. Causes Meckel Syndrome is inherited as an autosomal recessive trait. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal). Meckel Syndrome can be identified in pregnant women during the fifth month of pregnancy either through ultrasound testing or by checking cells taken from the fluid surrounding the fetus (amniocentesis). Affected Population Meckel Syndrome affects males and females in equal numbers. The incidence of this syndrome worldwide varies from 1 in 140,000 to 1 in 9,000 births. Higher than usual concentrations of people with Meckel Syndrome occurs in India and Finland. Related Disorders Symptoms of the following disorders can be similar to those of Meckel Syndrome. Comparisons may be useful for a differential diagnosis: Smith-Lemli-Opitz Syndrome (SLO Syndrome; RSH Syndrome), is a rare hereditary neurological disorder characterized by a smaller than normal size head, mental retardation, low pressure in the fluid of the eyes, incomplete development of the male genitalia, short nose with displaced nostrils and a smaller than normal size opening of the stomach (pyloric stenosis). (For more information on this disorder, choose "Smith-Lemli-Opitz" as your search term in the Rare Disease Database). Joubert Syndrome is a very rare hereditary neurological disorder marked by malformations of the area of the brain which controls balance and coordination, neuromuscular and eye movement disturbances. Additionally, psychomotor retardation, and/or respiratory abnormalities may develop. Some of the symptoms may decrease with age. (For more information on this disorder, choose "Joubert Syndrome" as your search term in the Rare Disease Database). Potter's Syndrome is a rare hereditary disorder marked by congenital cysts of the Kidneys and liver. The patients also suffer from cerebral hemorrhage, aortic aneurysm and high blood pressure. Ullrich-Feichtiger Syndrome exhibits the same symptoms as Meckel Syndrome with the addition of some facial deformities including small jaws and cleft palate. It also is marked by extra fingers. Therapies: Standard Treatment of Meckel Syndrome is symptomatic and supportive. Genetic counseling is recommended for families affected by this disorder. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Meckel Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp.606-607, 1096, 1250. ARE BOWING OF LONG TUBULAR BONES AND PREAXIAL POLYDACTYOL SIGNS OF THE MECKEL SYNDROME? F. Majewski, et al.; Hum Genet (1983, issue 65 (2)). Pp. 125-133. THE MECKEL SYNDROME: CLINICOPATHOLOGICAL FINDINGS IN 67 PATIENTS; R. Salonen, et al.; Am J Med Genet (August, 1984, issue 18 (4)). Pp. 671-689. A NEW SYNDROME WITH FEATURES OF THE SMITH-LEMLI-OPITZ AND MECKEL GRUBER SYNDROMES IN A SIBSHIP WITH CEREBELLAR DEFECTS: A.C. Casamassima, et al.; Am J Med Genet (February, 1987, issue 26 (2)). Pp. 321-336. STUDIES ON THE ELEVATED AMNIOTIC FLUID SP 1 IN MECKELS'S SYNDROME; MODIFIED GLYCOSYLATION OF SP1; M. Heikinheimo, et al.; Placenta (July-August, 1987, issue 8 (4)). Pp. 427-432. Meckel Syndrome pagetitle 661: Meckel Syndrome 03982.TXT Copyright (C) 1986, 1990, 1992 National Organization for Rare Disorders, Inc. 127: Mediterranean Fever, Familial _________________________ ** IMPORTANT ** It is possible that the main title of the article (Familial Mediterranean Fever) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Siegel-Cattan-Mamou Syndrome Armenian Syndrome Benign Paroxysmal Peritonitis Familial Paroxysmal Polyserositis Mediterranean Fever Periodic Amyloid Syndrome Periodic Peritonitis Syndrome Recurrent Polyserositis Reimann's Syndrome Reimann Periodic Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Familial mediterranean fever (FMF) is a hereditary disorder characterized by recurrent bouts of fever and inflammation of the serous membranes, which line the inside of the body cavity and the various organs that protrude into it. FMF occurs in persons of Armenian, Arabic, or Sephardic Jewish ancestry, and affects males more often than females. The disorder has a good prognosis in the absence of complications. The causes of Familial Mediterranean Fever are not known. Symptoms The first symptoms of Familial Mediterranean Fever usually appear between the ages of five and fifteen, although onset occasionally occurs in young adulthood or early middle age. Attacks recur at intervals of weeks or months, and usually last twenty-four to forty-eight hours, although sometimes they can last as long as one week. In women, attacks may correspond with menstrual periods. Fever, sometimes severe abdominal and stabbing chest pain (due to inflammation of the pleural and peritoneal membranes), and occasionally, arthritis and skin lesions, characterize the attacks. The patient may feel unable to breathe deeply because of pain (pleurisy). Pain occurs in the larger joints and lasts 2 to 3 days. Skin lesions consist of painful, reddish, swollen areas, usually on the lower legs. A major complication of Familial Mediterranean Fever is amyloidosis particularly affecting the kidneys. (For more information on Amyloidosis, choose "amyloidosis" as your search term in the Rare Disease Database.) This can lead to kidney failure. In the United States, drug addiction is an important complication, usually resulting from the use of narcotics to alleviate pain during attacks. Causes Familial Mediterranean Fever is inherited through an autosomal recessive mechanism. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Scientists have located the gene that results in the development of Familial Mediterranean Fever in non-Ashkanazi Jews on the short arm of chromosome 16. The biochemical or structural defect in this disease is not known. Inherited metabolic or endocrine defects are possibilities. Affected Population Familial Mediterranean Fever preferentially affects persons of Armenian, Arabic, or Sephardic Jewish ancestry. More males than females are affected. Therapies: Standard Colchicine prevents attacks for reasons that are not understood. In larger quantities, it stops attacks that are already in progress. Narcotics should not be used routinely to control pain because of the possibility of drug addiction. Surgery is of no benefit. When amyloidosis has destroyed the kidneys, renal transplantation or renal dialysis may be necessary. Therapies: Investigational This disease entry is based upon medical information available through June 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Familial Mediterranean Fever, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Institute of Diabetes, Digestive & Kidney Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 147, 795, 1196-9. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 255. Mediterranean Fever, Familial MAN1 pagetitle 127: Mediterranean Fever, Familial 03983.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 585: Medium-Chain Acyl CoA Dehydrogenase Deficiency _________________________ ** IMPORTANT ** It is possible that the main title of this article (Medium-Chain Acyl CoA Dehydrogenase Deficiency) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Acyl CoA Dehydrogenase Deficiency, Medium-Chain Nonketotic Carnitine Deficiency Carnitine Deficiency MCAD Deficiency MCADH Deficiency Dicarboxylicaciduria Information on the following disorders can be found in the Related Disorders section of this report: Glutaricaciduria II Reye Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Medium-Chain Acyl CoA Dehydrogenase Deficiency (MCAD) is a metabolic disorder characterized by a deficiency of the enzyme medium chain CoA dehydrogenase which is needed for the breakdown of medium chain fatty acids. This enzyme plays a central role in the metabolism of fats. Low blood sugar (hypoglycemia), lack of energy (lethargy) and possibly coma, as well as fatty changes in the liver, may also occur. During hypoglycemic periods, tests usually show massive amounts of dicarboxylic acid in the urine. Symptoms Medium-Chain Acyl CoA Dehydrogenase Deficiency is a form of organic acidemia. It is characterized by intermittent low blood sugar levels (hypoglycemia) after fasting, as well as fatigue, and sometimes coma. During periods of hypoglycemia, tests usually show excessive amounts of dicarboxylic acids in the urine of 6 to 8 carbon atoms in length. The chemical compound suberylglycine appears to be diagnostic for this condition. Fatty changes in the liver may also occur. Symptoms first appear during childhood or early adolescence. Causes CoA Dehydrogenase Deficiency is a hereditary disorder transmitted through autosomal recessive genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, he or she will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Affected Population Medium-Chain Acyl CoA Dehydrogenase Deficiency has an incidence of about 1 in 10,000 live births. It first appears during infancy and early childhood and males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders are similar to those of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Comparisons may be useful for a differential diagnosis: Glutaricaciduria II: There are two forms of this disorder which occur during different stages of life. They are both forms of organic acidemias which are a group of metabolic disorders characterized by excess acid in the blood and urine. 1) Glutaricaciduria IIA (GA IIA). This neonatal form of Glutaricaciduria II is a very rare, sex-linked hereditary disorder characterized by large amounts of glutaric and other acids in blood and urine. Some researchers believe the disorder is caused by a defect in the breakdown of acyl-CoA compounds. 2) Glutaricaciduria IIB (GA IIB; Ethylmalonic Adipicaciduria) is the milder, adult form of Glutaricaciduria II. This disorder, inherited through autosomal recessive genes, is characterized by acidity of the body tissues (metabolic acidosis), and a low blood sugar level (hypoglycemia) without an elevated level of ketones in body tissues (ketosis). Large amounts of glutaric acid in the blood and urine are caused by a deficiency of the enzyme "Multiple acyl-CoA dehydrogenase". (For more information, choose "Glutaricaciduria II" as your search term in the Rare Disease Database.) Reye Syndrome is a combination of acute brain disease (encephalopathy) and fatty degeneration of the abdominal organs. This disorder tends to follow some acute viral infections such as flu or chicken pox in combination with certain toxic substances such as aspirin. In addition to these viruses and toxins, deficiencies of the enzymes needed in the breakdown of ammonia to urine appear to be a contributing factor. Symptoms occur suddenly and progress quickly, leading to coma. (For more information, choose "Reye" as your search term in the Rare Disease Database.) Therapies: Standard Symptoms of Medium-Chain Acyl CoA Dehydrogenase Deficiency may be prevented by not allowing children with this deficiency to fast for prolonged periods of time. Sometimes children have to be awakened at night for feedings. Others may be fed intravenously or parenterally overnight. The usefulness of restricting the amino acids lysine, hydroxylysine and tryptophan (which generate glutaric acid when they are metabolized) is not established at the present time. Acute episodes of acidity in blood and body tissues (acidosis) and dehydration are treated with fluids and bicarbonate. Many of the adverse effects of organic acidemias are due to secondary carnitine depletion. Such patients should have plasma carnitine measured and, if deficient, begin a supplement of 100-300 mg/kg/day of oral l-carnitine. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on medium Chain Acyl CoA Dehydrogenase Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Support Group for Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD) 805 Montrose Dr. Greensboro, NC 27410 (919) 547-0196 Organic Acidemia Association 522 Lander St. Reno, NV 89512 (702) 322-5542 British Organic Acidemia Association 5 Saxon Rd. Ashford, Middlesex TW15 1QL England National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 800-801. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds; McGraw Hill, 1983. P. 238. CATALYTIC DEFECT OF MEDIUM-CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY: LACK OF BOTH COFACTOR RESPONSIVENESS AND BIOCHEMICAL HETEROGENEITY IN EIGHT PATIENTS: B.A. Amendt, et al.; J Clin Investi (1985: issue 76). Pp. 963-969. DICARBOXYLIC ACIDURIA: DEFICIENT 1-(14)C-OCTANOATE OXIDATION AND MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE IN FIBROBLASTS: W.J. Rhead, et al.; Science (1983: issue 221). Pp. 73-75. Medium-Chain Acyl CoA Dehydrogenase Deficiency "pagetitle 585: Medium-Chain Acyl CoA Dehydrogenase Deficiency 03984.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 226: Medullary Cystic Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Medullary Cystic Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Familial Juvenile Nephronophthisis Renal-retinal Dysplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Medullary Cystic disease is a diffuse kidney disease, either genetic or congenital in origin, which usually appears in children or young adults (juvenile nephropthisis). It is characterized by a gradual increase of urea and other by-products of protein breakdown in the blood (uremia) due to progressive failure of kidney function. Symptoms Symptoms of Medullary Cystic disease usually begin during the first two decades of life, though the disease has been observed in patients in their sixties. Passing large amounts of urine (polyuria) due to the inability of the kidneys to concentrate the salts dissolved in the urine is often the earliest symptom; this condition is resistant to treatment with vasopressin. Patients commonly pass excessive amounts of sodium in the urine which may be severe enough to require extra sodium intake to prevent extracellular volume depletion. Acidity of the body tissue (acidosis) with or without relatively high chloride in the blood (hyperchloremia) may be present. Retarded growth and evidence of bone disease are common in these children. In many patients, these problems develop slowly over a period of years; the body may, in fact, compensate for the problems so much that they are not recognized until significant uremia symptoms appear later in life due to kidney failure (uremia). Laboratory findings are similar to those in patients with chronic renal failure. Protein in the urine (proteinuria) is minimal or absent, and the urinary sediment is not remarkable. X-rays of the urinary tract demonstrates only small kidneys, but ultrasound and special X-rays (arteriography) may reveal medullary cysts. Causes Medullary Cystic disease is possibly a recessive hereditary disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Fifty percent of patients with Medullary Cystic disease are diagnosed in childhood. Related Disorders Medullary Sponge Kidney is characterized by tubular dilatation or faulty development of the collecting tubules of the kidney. It leads to urinary stasis and kidney stones (nephrocalcinosis). Polycystic Kidney disease is an inherited kidney disorder characterized by many bilateral cysts which cause enlargement of the kidney size, while reducing, by compression, the normal functioning kidney tissue. Therapies: Standard The treatment of Medullary Cystic disease consists of careful management of uremia when it occurs. Diet must be carefully monitored. An increase of caloric intake should be coupled with a reduction in the total content of dietary protein. Sufficient carbohydrates and fats should be consumed to provide energy and prevent the body from metabolizing its own proteins. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Medullary Cystic Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 The National Kidney Foundation 2 Park Ave. New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1631. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 645-8. Medullary Cystic DiseaseG pagetitle 226: Medullary Cystic Disease 03985.TXT Copyright (C) 1986, 1989, 1990 National Organization for Rare Disorders, Inc. 223: Medullary Sponge Kidney _________________________ ** IMPORTANT ** It is possible the main title of the article (Medullary Sponge Kidney) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Sponge Kidney Tubular Ectasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Medullary Sponge Kidney is a hereditary congenital defect characterized by dilation of the terminal collecting ducts in the kidneys. Often small calcium oxalate stones (calculi) appear in these ducts. This condition may affect one or both kidneys. Symptoms One or both kidneys may be affected in Medullary Sponge Kidney. Some of the papillary collecting ducts in the kidneys are dilated. This disorder is commonly associated with blood in the urine (hematuria) which can be recurrent. Infections of the urinary tract often are the first sign of an underlying abnormality. Kidney stones (nephrolithiasis) with renal colic, loin pain, and the excretion of small stones is one of the more prominent features of Medullary Sponge Kidney. The stones form in the dilated portions of the collecting ducts. They may consist of calcium oxalate, calcium phosphate and other types of calcium salts. The disease seldom progresses to end stage renal failure, although reduced glomurular filtration rates have been observed. The most common functional abnormalities include the inability of the kidney to concentrate the salts that are excreted as urine, and acidity of the body tissues (systemic acidosis) secondary to renal tubular acidosis. Kidney stones (nephrolithiasis) are a common clinical problem for patients with this disorder; it has been observed that 13% of patients who develop kidney stones have Medullary Sponge Kidney. Causes Medullary Sponge Kidney is an autosomal dominant hereditary disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) A possible relationship between hyperparathyroidism and Medullary Sponge Kidney has been suggested. Affected Population Medullary Sponge Kidney is more common in males than in females. Therapies: Standard Patients with Medullary Sponge Kidney should take sufficient fluids in order to excrete about 2 liters of urine each day. Patients with too much calcium in the urine (hypercalciuria) may benefit from long-term therapy with thiazide diuretics as well as a high fluid intake. For patients with calcium urolithiasis and normal calcium excretion, oral phosphate therapy may be useful. A low calcium diet may prevent stone formation and thereby reduce obstruction complications. Patients should visit a physician at least yearly for routine urinalysis. Therapies: Investigational Calcium Acetate is a new orphan drug being used in the treatment of hyperphosphatemia in end stage renal disease (ESRD). It is manufactured by Pharmedic Co., 130 Exmoor Ct., Deerfield, IL 60015. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Medullary Sponge Kidney, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 The National Kidney Foundation 30 East 33rd St. New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1631. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 645-8. Medullary Sponge Kidney ). k pagetitle 223: Medullary Sponge Kidney 03986.TXT Copyright (C) 1986, 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 300: Medulloblastoma _________________________ General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. A Medulloblastoma is a tumor in the cerebellum (a part of the brain), located in the lower rear portion of the skull (posterior fossa). About half of medulloblastomas are confined to the connecting bridge between the two halves of the cerebellum (vermis), and the other half actually invade the cerebellum or the brainstem (pons and medulla). Symptoms In infants with Medulloblastoma, the first sign of a brain tumor may be increased head size with no indication of discomfort or other symptoms. Two general categories of symptoms can be identified: those due to increased pressure inside the skull and those resulting from the tumor's effect on tissues of the brain. Increased pressure in the skull may be due to several factors. Because the skull is composed of bone and cannot expand to accommodate a growing mass, the tumor may press on and displace normal brain tissue which is very easily damaged. Or the tumor may cause swelling (edema) of the brain or interfere with spinal fluid excretion which add to the "mass effect". The most common initial symptom of a Medulloblastoma is vomiting, with or without nausea, just after waking up in the morning. This type of vomiting may be caused by, and an indication of increased intracranial pressure. However, vomiting can also occur in the absence of pressure due to a disturbance of the brain itself. Headache, often severe enough to wake the child and frequently present in the early morning, is also attributed to increased intracranial pressure. After vomiting the child often feels fine again. Because this unusual pattern of vomiting is often ignored, confused with the flu, or attributed to emotions, the tumor often progresses until other, more specific symptoms occur. Other symptoms associated with increased intracranial pressure are irritability, sluggishness or drowsiness (lethargy), personality change and impaired attention or memory. The vomiting pattern tends to occur with increasing frequency as the tumor grows. The cerebellum coordinates skilled muscle activity such as walking and speech; signs of cerebellar involvement may be present as the Medulloblastoma affects normal tissue. The initial signal of a cerebellar problem is commonly a change in the way a child walks such as stumbling, or uncoordinated movements (ataxia or ataxic gait). Depending on the exact location of the tumor, a variety of additional symptoms may be present. Muscle weakness, increased involuntary muscle contraction (spasticity), change in reflexes such as the knee tap, limp muscles (hypotonicity), stiff neck often causing a tilt of the head, imperfect eye coordination such as crossed eyes (strabismus), and rapid movement of the eyeballs (nystagmus) are frequent signs. They may also indicate which brain structures the tumor is affecting. Neurologists and neurosurgeons are the appropriate medical professionals to diagnose and treat Medulloblastomas. Causes The cause of Medulloblastoma, like most brain tumors, is unknown. Affected Population Although Medulloblastomas have been found in newborn babies as well as people in their 70's, this tumor is most commonly found in children between 4 and 8 years of age, with a peak incidence at 5 1/2 years. Boys of this age are twice as likely to have this type of tumor as girls, but the sexual predisposition tends to lessen with increasing age. Two other peaks of occurrence have been reported during childhood; one at 3 years and one at 7-9 years. A smaller peak exists between 20 and 24 years of age. Eighty percent of all Medulloblastomas occur in children 15 years or younger. Therapies: Standard It is common for Medulloblastoma to block the normal flow of spinal fluid, causing it to accumulate in the brain. Shunting may be necessary to remove the excess fluid and decrease intracranial pressure prior to removal of the tumor. The use of this procedure is controversial, due to the risk of spreading the tumor (metastasis) via the shunt to other parts of the body. SURGERY--Surgical removal of the tumor (posterior fossa craniectomy) is the treatment of choice. This surgery is necessary to remove the bulk of the tumor and to allow other treatment methods, such as chemotherapy or radiation, to be more effective. RADIATION--This tumor tends to be easily destroyed by radiation. Radiation therapy usually begins about a week after surgery and should include irradiation of the entire brain and spine, with a booster dose to the posterior fossa. The Medulloblastoma may spread throughout the brain and spinal cord (neuroaxis), hence the entire central nervous system must be irradiated. Some hospitals report a 60%-70% 5 year survival rate in Medulloblastoma patients when the tumor has been apparently totally removed, followed by radiation treatment. CHEMOTHERAPY--High risk patients with Medulloblastoma are those who are less than 3 years old, having extensive tumor before surgery, marked residual tumor after surgery, or those whose tumor has spread beyond the cerebellum. They may benefit from chemotherapy such as Vincristine or CCNU. This additional drug treatment is prescribed in the hope that it will delay or prevent recurrence of the tumor. Therapies: Investigational Ongoing research into new treatments for Medulloblastoma is conducted at the National Cancer Institute (see "Resources" section of this entry). This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Medulloblastoma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Brain Tumor Research 2910 West Montrose Ave. Chicago, IL 60618 (312) 286-5571 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. References ABOUT MEDULLOBLASTOMA; W. Kretzmer et al.: Association for Brain Tumor Research, 1985. Medulloblastoma onec# pagetitle 300: Medulloblastoma 03987.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 235: Meige Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Meige Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Brueghel syndrome Blepharospasm Oromandibular Dystonic syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Meige syndrome is a neurological movement disorder. It is characterized by abnormal jerky movements of the muscles of the face, jaw, eyebrows and spasm of the muscle around the eye. There may also be tongue, throat, and possible respiratory spasms. Symptoms Meige syndrome is characterized by impaired voluntary movements (dyskinesia), ceaseless rapid involuntary jerky movements (chorea), and disordered tension of all muscles (dystonia) of the facial musculature such as the jaws and the eyebrows. Rapid eye blinking and spasms of the muscles around the eye (blepharospasm) can cause the inability to control movement of the eyelids, resulting in involuntary closure of the eyes intermittently. The trunk and the extremities may be involved, but this is less common than facial involvement. Tongue, throat, and possible respiratory system spasms may also occur. Onset of Meige's syndrome is gradual, occurring usually in individuals over 50 years of age. Causes The specific cause of this neurological movement disorder is not known. Malfunction of brain chemicals (neurotransmitters) has been implicated in Meige's syndrome. Affected Population Meige's syndrome usually affects people over 50 years of age although it can occur at younger ages. Related Disorders Benign Essential Blepharospasm is a disorder affecting the circular muscle around the eye. It is characterized by strong involuntary contractions of this muscle resulting in intermittent loss of control over eyelid movements. The blepharospasm is similar, but other facial muscles are also involved in Meige's syndrome. (For more information on blepharospasm, choose Benign Essential Blepharospasm as your search term in the Rare Disease Database.) Therapies: Standard Drugs used to treat the blepharospasm of Meige syndrome include the following: a. diazepam, a tranquilizer b. levodopa, an anti-parkinsonian agent c. methyldopa, an antihypertensive d. trihexyphenidyl, an anticholinergic e. lithium (which is also used to treat manic depression) f. baclofen (Lioresal), a muscle relaxant g. clonazepam (Clonopin), an anticonvulsant Therapies: Investigational Botulinum A Toxin is being used experimentally on Meige Syndrome. This orphan drug (brand name Oculinum) is injected into muscles in order to halt spasms by temporarily paralyzing the muscle. Treatment must be repeated within a few months when the spasms return. This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Meige Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Dystonia Medical Research Foundation 8383 Wilshire Blvd. Beverly Hills, CA 90211 (213) 852-1630 Dystonia Medical Research 1 E. Wacker Dr., Suite 2900 Chicago, IL 60601-20998 Benign Essential Blepharospasm Research Foundation, Inc. (BEBRF, Inc.) P.O. Box 12468 Beaumont, TX 77726-2468 (409) 832-0788 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2150-1. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1421. Meige Syndrome= pagetitle 235: Meige Syndrome 03988.TXT )Copyright (C) 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 684: Melanoma, Malignant _________________________ ** IMPORTANT ** It is possible that the main title of the article (Malignant Melanoma) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Melanoma Nevus Pigmentosa Melanocarcinoma Melanoblastoma Melanotic Carcinoma Melanosarcoma Melanoepithelioma Melanoscirrhus Disorder Subdivisions: Acral Lentiginous Melanoma Juvenile Melanoma Malignant Lentigo (Melanoma) Information on the following diseases can be found in the Related Disorders section of this report: Basal Cell Carcinoma Squamous Cell Carcinoma Kaposi's Sarcoma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Malignant Melanoma is a common skin cancer that arises from the melanin cells of the upper layer of the skin (epidermis) or from similar cells that can be found in moles (nevi). This type of skin cancer may send down roots into deeper layers of the skin. Some of these microscopic roots can spread (metastasize) causing new tumor growths in vital organs of the body. Symptoms In early stages most melanomas do not produce any specific symptoms. Later they may appear as a lesion that does not heal, or an existing mole that shows changes in size or color. A physician should be consulted when any lesion, pigmented or not, becomes itchy, burns, softens or hardens, forms a scab, bleeds, becomes surrounded by a reddened or inflamed area, changes color, size or shape. Disorder Subdivisions: Acral Lentiginious melanoma is a malignant skin cancer that occurs in areas that are not excessively exposed to sunlight and where hair follicles are absent. Juvenile Melanoma is a benign, elevated, pink to purplish-red papule, with a slightly scaly surface. It usually appears on the face, especially the cheeks. This type of melanoma most often occurs before puberty and has been mistaken for malignant melanoma. Malignant Lentigo (Melanoma) is a precancerous area on the skin, that resembles a freckle. It can be brown or black in color, irregular in shape, and it usually occurs on the face. This type of Melanoma occurs most often in older people. Causes The exact cause of Malignant Melanoma is unknown. Excessive exposure to the sun, particularly before puberty, and living in areas that are closer to the sun, increases the risk of developing skin cancer. There may be a genetic predisposition for malignant melanoma which may be transmitted through autosomal dominant genes. Human traits including the classic genetic diseases are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. A genetic predisposition to an illness means that some people may carry the defective gene but never get the disorder unless something in the environment triggers the disease process. Affected Population Malignant Melanoma affects males and females in equal numbers. The incidence of these types of skin cancers is increasing at a far faster rate than any other cancers. The risk of melanoma is higher in Caucasians than in those of more darkly pigmented races. It is even a greater risk for those with blue eyes and fair complexion. Related Disorders Symptoms of the following disorders can be similar to those of Malignant Melanoma. Comparisons may be useful for a differential diagnosis: Basal Cell Carcinoma is a common skin cancer. It may appear as small, shiny, firm nodules; ulcerated, crusted lesions; or flat, scar-like hardened patches which may bleed. This type of skin cancer is difficult to differentiate from psoriasis or localized dermatitis without a biopsy. Squamous Cell Carcinomas usually appear on sun-exposed areas of the skin, but may occur anywhere on the body. The lesions begin as a small red elevation or patch with a scaly or crusted surface. They may become nodular, sometimes with a warty surface. In some, the bulk of the lesion may lie below the level of the surrounding tissue. A biopsy is essential to diagnose this disorder. Kaposi's Sarcoma may appear as small pigmented (tan to purple) papules, plaques, nodules, tumors or ulcers. This type of skin cancer can infiltrate the body, involving the oropharynx and gastrointestinal tract, disseminating to other organs such as the liver, lung and bone. Chemotherapy has been helpful in treating Kaposi's Sarcoma. Until the last 10 years it was seen mostly in older men of Ashkenazi Jewish or Mediterranean descent, and those with a compromised immune system. The more recent increased incidence of Kaposi's Sarcoma is due to AIDS (Acquired Immunodeficiency Syndrome); about 30% of those with AIDS will also get Kaposi's Sarcoma. Therapies: Standard The treatment for Malignant Melanoma depends on the level, stage and location of the skin cancer at the time of diagnosis. For stage 1 disease, surgery to remove the affected area is a wide excision with 5-cm margins around the lesion. In some locations, such as the face, smaller margins must be accepted. If the cancer has progressed to the lymph nodes, Stage 2, a complete removal of the involved nodes (lymphadenectomy) must be done. Regular follow-ups are advisable and should include an annual chest X-Ray. For patients with metastatic disease, certain chemotherapeutic agents (drugs), are being used alone or in combination with other drugs. Decarbazine, used in this manner has resulted in a temporary remission for some patients. A course of treatment that includes high-dose alkylating agents such as cyclophosphamide, cisplatin, and carmustine, may also be effective as a treatment for Malignant Melanoma. Therapies: Investigational at the present time there are several new drug studies dealing with Malignant Melanoma. Scientists are trying to develop drugs to enhance the immune system, including a vaccine. The drug Interferon, used alone or in combination with other chemotherapeutic agents, is also being tested. Autologous bone marrow transplants are being done experimentally for treatment of Malignant Melanoma. More research must be conducted to determine long-term safety and effectiveness of these drugs and procedures. The Office of Orphan Products Development has awarded a New Grant Award for the year 1990 to Dr. Jean Claude Bystryn of New York Medical Center, New York, NY, for clinical trial work of a Polyvalent Antigen Vaccine for treatment of Melanoma. Clinical trials are underway to study Interleukin-2 and Tumor-Infiltrating Lymphocytes in patients with Melanoma. Interested persons may wish to contact: Timothy J. Eberlein, M.D. Brigham and Women's Hospital 75 Francis St. Boston, MA 02115 (617) 732-6799 to see if further patients are needed for this research. The orphan product Melphalan, trade name Alkeran for injection, is being tested by the FDA as a treatment for Metastic Melanoma. The product is being sponsored by Burroughs Wellcome, Co., 3030 Cornwallis Rd., Research Triangle Park, NC, 27709. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Malignant Melanoma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Melanoma Foundation 750 Menlo Avenue Suite 250 Menlo Park, CA 94025 (415) 326-3974 Helping Hand 12 Arlington St. Portland, ME 04101 The Skin Cancer Foundation 475 Park Avenue South New York, NY 10016 (212) 725-5176 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 485. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1109, 1111, 1372. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Research Laboratories., 1982. Pp. 1164. IMMUNOTHERAPY FOR MALIGNANT MELANOMA, VACCINES. JC Bystryn; MEL LET (Vol. 4; No. 2 1986). CHANGING TRENDS IN MELANOMA. CM Balch, M.D.; ed.-in-chief; MEL LET (Vol. 5, No. 1, 1987). MALIGNANT MELANOMA. TREATMENT WITH HIGH DOSE COMBINATION ALKYLATING AGENT CHEMOTHERAPY AND AUTOLOGOUS BONE MARROW SUPPORT. TC Shea; ARCH DERMATOL, (June 1988; 124(6)). Pp. 878-884. Melanoma, Malignant *pagetitle 684: Melanoma, Malignant 03989.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 599: Melkersson-Rosenthal Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Melkersson-Rosenthal Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Melkersson Syndrome MRS Cheilitis Granulomatosa Information on the following diseases can be found in the Related Disorders section of this report: Bell's Palsy Amyloidosis, Type V General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Melkersson-Rosenthal Syndrome is a rare neurological disorder. Recurrent swelling (edema) of the face, especially the lip, is accompanied by intermittent paralysis and a fissured tongue (lingua plicata). This disorder usually begins during childhood. Symptoms Melkersson-Rosenthal Syndrome is characterized by chronic swelling of the face and peripheral facial paralysis (affecting one or both sides of the face) that tends to relapse. In some cases, a fissured tongue (lingua plicata) may also occur. Facial swelling may only involve one lip, although both lips can be affected. Long-term swelling may cause facial or lip tissue to eventually be increased by excessive fibrous tissue. Lengthy intervals may separate occurrences, and swelling may not occur at the same time as the paralysis. In rare cases, the facial paralysis may become permanent. Causes The exact cause of Melkersson-Rosenthal Syndrome is not known. It is believed to be inherited as an autosomal dominant trait with incomplete penetrance. (In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Incomplete penetrance means that all characteristics of a particular trait may not be manifested in all those who inherit the gene.) Other researchers believe that Melkersson-Rosenthal Syndrome is an autoimmune disease. Autoimmune disorders are caused when the body's natural defenses (antibodies) against invading organisms suddenly begin to attack healthy tissue. Some cases may be linked to abnormal immune reactions by blood cells which produce antibodies to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal cells, or thyroid. Affected Population Melkersson-Rosenthal Syndrome usually begins during childhood and tends to affect females more often than males. This disorder was originally identified in Europe. Related Disorders Symptoms of the following disorders can be similar to those of Melkersson-Rosenthal Syndrome. Comparisons may be useful for a differential diagnosis: Bell's Palsy is a unilateral facial paralysis of sudden onset resulting from ischemia or compression of the facial nerve (cranial nerve VII) in its canal in the temporal bone. It is non-progressive and benign, and may be partial or complete. The affected muscles usually regain their function after one or two months, although in cases of extensive nerve damage, all or part of the paralysis may be permanent. (For more information on this disorder, choose "Bell" as your search term in the Rare Disease Database). Amyloidosis, Type V, also known as cerebral arterial or Iceland type Amyloidosis, results from the extracellular accumulation of amyloid, a glycoprotein, in quantities sufficient to cause dysfunction. Symptoms such as facial paralysis or swelling similar to Melkersson-Rosenthal Syndrome may occur in some cases. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of facial paralysis in Melkersson-Rosenthal Syndrome may involve surgery to decompress the facial nerve. However, caution should be used in recommending this procedure since it may not be effective in all patients. Abnormally swollen lips may be reduced by surgical intervention. Local injections of triamcinolone acetonide solution may provide improvement in some patients. Other treatment is symptomatic and supportive. Therapies: Investigational A pilot study involving the anti-Leprosy drug clofazimine as a treatment for Melkersson-Rosenthal Syndrome is underway. The mode of action clofazimine takes in this disorder is not well understood. Therefore, more intensive research is necessary before complete therapeutic value can be evaluated. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Melkersson-Rosenthal Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 486. MELKERSSON-ROSENTHAL SYNDROME: M.W. Minor, et al.; J Allergy Clin Immunol (July 1987, issue 80 (1)). Pp. 64-67. INTRALESIONAL T LYMPHOCYTE PHENOTYPES AND HLA-DR EXPRESSION IN MELKERSSON-ROSENTHAL SYNDROME: L. Ronnblom, et al.; Int J Oral Maxillofac Surg (October 1986, issue 15 (5)). Pp. 614-619. TOTAL FACIAL NERVE DECOMPRESSION IN RECURRENT FACIAL PARALYSIS AND THE MELKERSSON-ROSENTHAL SYNDROME: A PRELIMINARY REPORT: M.D. Graham, et al.; Am J Otol (January 1986, issue 7 (1)). Pp. 34-37. THE MELKERSSON-ROSENTHAL SYNDROME: W. B. Wadlington, et al.; Pediatrics (April 1984, issue 73 (4)). Pp. 502-560. Melkersson-Rosenthal Syndrome pagetitle 599: Melkersson-Rosenthal Syndrome 03990.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 650: Melnick-Needles Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Melnick-Needles Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms MNS Melnick-Needles Osteodysplasty Osteodysplasty of Melnick and Needles Osteodysplasty Information on the following disease can be found in the Related Disorders section of this report: Multiple Epiphyseal Dysplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Melnick-Needles Syndrome is a genetic disorder characterized by abnormal bone development. Prominent eyes, an extremely small lower jaw, bowing of the bones in the arms and legs, and other bone abnormalities may occur. Symptoms Melnick-Needles patients have a particular facial appearance with prominent, widely-spaced eyes, full cheeks, small facial bones, and an unusually small lower jaw (micrognathia). The skull may be slow to develop. The way in which Melnick-Needles patients bring their teeth together (bite) may be abnormal. The upper arms and the last bones in the fingers (distal phalanges) may be shorter than normal. One of the short bones of the arm (radius) and of the leg (fibula) may be bowed. The distal (farthest from the body) ends of the long bone of the arm (humerus) and of the two short bones of the leg (tibia, fibula) may be flared. The connection between the long bone of the leg (femur) and the hip may be misaligned (coxa valga), producing an unusual walking pattern (gait). Melnick-Needles patients may also have a relatively small chest cavity (thoracic cage) with irregular ribbon-like ribs, a short collarbone (clavicle), and narrow shoulders. The lower part of their chest has a hollow shape (pectus excavatum). The vertebrae may be longer than normal. Part of the pelvis (ilium) may also be flared. Occasionally, dislocation of the hip may occur. Also, the tube that runs from the kidney to the bladder (ureter) may be abnormally narrow. This may lead to urine retention and kidney problems. Patients with Melnick-Needles Syndrome may develop osteoarthritis of the back and/or hip in later years. The shape of the pelvis in females may make normal childbirth difficult. Melnick-Needles patients may be unusually susceptible to respiratory infections. Height usually is not affected. Causes Confusion exists on the exact mode of inheritance of Melnick-Needles Syndrome. This disorder appears to be an X-linked dominant trait; however, autosomal recessive inheritance has also been suggested. Melnick-Needles Syndrome may also occur as a mutation without any family history of bone disease. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe condition. Sometimes affected males die before birth so that only female patients survive. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Melnick-Needles Syndrome occurs at birth and affects more females than males. Related Disorders Symptoms of the following disorder can be similar to those of Melnick-Needles Syndrome. Comparisons may be useful for a differential diagnosis: Multiple Epiphyseal Dysplasia is a hereditary bone disorder that affects females and males equally. It is detectable between two and five years of age with the appearance of a waddling gait. Patients may experience pain as a result of osteoarthritis in the joints. Body size tends to be almost normal, with the exception of the hands and feet which are disproportionately small. Therapies: Standard Treatment of Melnick-Needles Syndrome is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Melnick-Needles Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: K.L. Jones; W.B. Saunders Company, 1988. Pp. 528-529. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1050, 1337. MELNICK-NEEDLES SYNDROME IN MALES: M. Krajewska-Walasek, et al.; Am J Med Genet (May, 1987: issue 27(1)). Pp. 153-158... Melnick-Needles Syndrome' pagetitle 650: Melnick-Needles Syndrome 03991.TXT Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders, Inc. 272: Meniere Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Meniere Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Endolymphatic Hydrops Labyrinthine Hydrops Labyrinthine Syndrome Lermoyez Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Meniere's Disease is a disorder characterized by recurrent prostrating dizziness (vertigo), possible hearing loss and ringing sounds (tinnitus). It is associated with dilation of the membranous labyrinth (endolymphatic hydrops) in the ear. Symptoms The attacks of dizziness (vertigo) in Meniere Disease appear suddenly and usually last a few hours. Vertigo consists of the sensation that the room or objects are rotating around the patient. The dizziness often subsides gradually. The attacks may be associated with nausea and vomiting. The patient may have a recurrent feeling of fullness or pressure in the affected ear, and hearing tends to fluctuate. Over the years hearing may progressively worsen. The unusual noises heard by the patient (tinnitus) may be constant or intermittent. The sounds may be more intense before, after or during an attack of vertigo. Usually, one ear is affected, but both ears are involved in 10% to 15% of patients with Meniere's Disease. (For more information on tinnitus, choose "tinnitus" as your search term in the Rare Disease Database.) In Lermoyez's variant of Meniere Disease, hearing loss and tinnitus may precede the first attack of vertigo by months or years, and the hearing may improve with onset of the vertigo. Sometimes Meniere Disease can occur without vertigo. In this type of the disorder, the endolymphatic distention is limited to the cochlea, the snailshell-like spiral tube in the inner ear. Causes The cause of Meniere Disease is not known. Possibly the membrane between the inner and middle ear has become more porous, causing a change in the osmotic pressure in the labyrinth. Local disturbance of the salt/water balance leading to edema of the fluid inside the labyrinth (endolymph), characterizes this disorder but it is not clear why this occurs. Other possible causes are disturbance of the autonomic regulation of the endolymphatic system; local allergy of the inner ear; and vascular disturbance of a layer of fibrous vascular tissue covering the outer wall of the cochlear duct (stria vascularis). Stress and emotional disturbances are often associated with an increase in frequency of the attacks. Affected Population Onset of Meniere Disease is most common during the fifth decade of life. The disorder occurs somewhat more frequently in males than in females. A recent study suggests that 0.4 percent of the population in the United States may be affected by Meniere's Disease. Therapies: Standard Symptomatic relief of the dizziness can sometimes be obtained with anticholinergic drugs such as atropine or scopolamine. These minimize gastrointestinal symptoms mediated by the tenth cranial nerve. Antihistamines such as diphenhydramine, meclizine or cyclizine can sedate the vestibular system. Barbiturates such as phenobarbital can be used for general sedation during severe attacks. Diazepam appears to be particularly effective in relieving the distress of severe dizziness by sedating the vestibular system. An operation to implant a shunt to drain off excess fluid thus relieving pressure on the inner ear can lend temporary relief of dizziness and hearing loss. In order to keep dizziness messages from going to the brain, surgeons may also cut the vestibular nerve, although this is a high-risk procedure and may result in cutting the cochlear nerve (which governs hearing) or the nerve which controls the facial muscles. To avoid this, the RVN procedure was developed in 1978. Surgeons remove a small section of bone from behind the outer ear and attach an electrode on the cochlear nerve. A small earphone producing steady clicks is placed in the outer ear. The clicks are picked up by the inner ear, transmitted through the cochlear nerve, and monitored on a computer screen hook-up. A pattern change on the computer would signal any disturbance to the cochlear nerve. The fibers of the vestibular nerve are severed layer by layer. The first few days after this procedure may be difficult, but the dizziness may be relieved with almost no hearing loss. Therapies: Investigational When recurring attacks of vertigo become more frequent and severe, and intensive medical therapy has failed to control them, the patient with Meniere's disease becomes a potential candidate for surgery to help his/her symptoms. Surgery for this disorder presently can be divided into two groups: Conservative and Destructive types. Conservative--used if residual hearing is good or aidable through a hearing aid. Three approaches are used within this category: 1) the endolymphatic shunt; 2) the middle cranial fossa vestibular neurectomy, and 3) the retrolabyrinthine vestibular neurectomy. Destructive--used if residual hearing is poor and cannot be helped with amplification. Three such operations are in use today: 1) the oval window labyrinthectomy; 2) the postauricular labyrinthectomy; and 3) the translabyrinthine vestibular neurectomy. All modern surgical treatment of Meniere's disease involves microsurgical techniques and, in some instances, laser technology. For further information on experimental surgery for Meniere Disease contact: Dr. Margareta Moller Presbyterian University Hospital, Room 948 230 Lothrup St. Pittsburgh, PA 15213 (412) 647-0444 Ear Research Foundation Dept. P, 1921 Floyd St. Sarasota, FL 34239 This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Meniere Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The E.A.R. Foundation ATTN: Meniere's Network 2000 Church Street Nashville, TN 37236 (615) 329-7807 (Voice & TDD) Meniere Crouzon Syndrome Support Network 2375 Valentine Dr., #9 Prescott, AZ 96303 Vestibular Disorders Association 1015 22nd Avenue, D-230 Portland, OR 97210-3079 (503) 229-7348 American Tinnitus Association P.O. Box 5 Portland, OR 97207 (502) 248-9985 NIH/National Institute of Deafness & Other Communication Disorders (NIDCD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 References The Merck Manual of Diagnosis and Therapy: Berkow et al., eds.: Merck Sharp & Dohme (1982). Meniere Disease pagetitle 272: Meniere Disease 03992.TXT Copyright (C) 1986, 1987, 1989 National Organization for Rare Disorders, Inc. 301: Meningioma _________________________ ** IMPORTANT ** It is possible the main title of the article (Meningioma) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Arachnoidal Fibroblastoma Leptomeningioma Dural Endothelioma Meningeal Fibroblastoma DISORDER SUBDIVISIONS Frontal Tumor Temporal Tumor Parietal Tumor General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Meningiomas are benign, slow-growing tumors, classified as brain tumors, but actually growing in the three protective membranes that surround the brain (meninges). Sometimes they cause thickening or thinning of adjoining skull bones. Meningiomas do not spread to other areas of the body. Symptoms Symptoms of Meningioma vary according to the size and location of the tumor. FRONTAL TUMORS: These type of tumors can produce progressive weakness on one side of the body or in a localized area such as a leg. They can also cause seizures that may be limited to one area (focal), or generalized. Mental changes may also occur. Seizures are caused by a disturbance in the electrical activity of the brain. They are usually sudden, brief attacks of altered consciousness, unusual muscle movements, sensations, and/or behavior. The patient with seizures may fall, experience jerky movements, appear to be in a daze or asleep. A focal seizure is localized in one part of the body. (For more information, choose "Epilepsy" as your search term in the Rare Disease database). Mental changes may include drowsiness, listlessness, dullness, or personality changes. If the tumor is in the dominant hemisphere, which is the left side of the brain for right handed persons, it can produce speech difficulties (aphasia). Frontal lobe tumors can also produce loss of sense of smell, blurred or double vision, and loss of bladder control (incontinence or sudden, unexpected urination). TEMPORAL TUMORS: Temporal tumors, particularly in the non-dominant hemisphere, usually cause no symptoms other than seizures. However, some patients loose the ability to recognize and name objects (anomia) if the tumor is in the dominant hemisphere. PARIETAL TUMORS: Meningiomas over the parietal lobe, which lies behind the frontal lobe, may produce either generalized seizures or focal sensory seizures which are characterized by a strange sensation (paresthesia) in a particular part of the body. The inability to identify an object by touching it (astereognosis) can also be caused by meningiomas of the parietal lobe. The most common symptom associated with brain tumors is headache. However, not all tumors cause headaches. Causes The cause of Meningioma is unknown. Meningiomas usually develop from cell clusters associated with arachnoidal villi. Affected Population Meningiomas most frequently occur in middle-aged persons. They are more common in women than in men by a ratio of 3:2. These types of tumors are rare in childhood, and they seldom affect black people in the United States. Therapies: Standard Many meningiomas can be completely removed surgically. Some, due to their location, can only be partially removed. In these areas of the brain, complete removal would carry the risk of damaging a major artery or of destroying a part of the brain. However, even partial removal should provide some relief from symptoms. Because meningiomas grow so slowly, it could be many years before further surgery may be necessary. Radiation and chemotherapy are usually not used to treat meningiomas. If the patient with Meningioma has muscle weakness, coordination problems, or speech impairment, physical, occupational, or speech therapy may be helpful. Complete recovery from symptoms is possible after surgery. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Meningioma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Brain Tumor Research 2910 West Montrose Ave. Chicago, IL 60618 (312) 286-5571 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. References ABOUT MENINGIOMAS: B. Fine et al.; Association for Brain Tumor Research, 1982. Meningioma pagetitle 301: Meningioma 03993.TXT !Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 539: Meningitis _________________________ ** IMPORTANT ** It is possible the main title of the article (Meningitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS: Adult Meningitis Infantile Meningitis Neonatal Meningitis Includes: Waterhouse-Friderichsen Syndrome Information on the following disorder may be found in the Related Disorders section of this report: Encephalitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. The disorder can occur in three different forms: adult, infantile, and neonatal. This inflammation may be caused by different types of bacteria, viruses, fungi, or malignant tumors. Chemical reactions to certain injections into the spinal canal can also cause Meningitis. This inflammation can begin suddenly (acute) or develop gradually (subacute). Adult forms of Meningitis are characterized by fever, headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may occur. Treatment with antibiotics is usually effective against the infection. Symptoms Meningitis in adults and children is often preceded by respiratory illness or a sore throat. In its acute form, the disorder is characterized by fever, headache, a stiff neck, and vomiting. Adults may become seriously ill within 24 hours. In children, the course of the infection may be even shorter. Symptoms among older children and adults may progress from irritability through confusion, drowsiness, and stupor, possibly leading to coma. Dehydration often occurs, and collapse of the blood vessels may lead to shock (Waterhouse-Friderichsen Syndrome), especially when the Meningitis is caused by meningococcus bacteria which spreads to the blood (septicemia). Paralysis of one side of the body (hemiparesis) is uncommon early in the course of Meningitis, but may occur later as a result of tissue death in the brain (cerebral infarction). Meningitis may recur even after treatment with antibiotics. Infantile Meningitis: The course of the disorder is less predictable among infants between 3 months and 2 years of age. Fever, vomiting, irritability, and convulsions usually occur. A high-pitched cry, and a bulging or tight soft spot (fontanel) on the crown of the head (where the parts of the still unhardened bones join) may also occur. Since the incidence of Meningitis is highest among this age group, any unexplained fever needs to be closely watched. Cerebral fluid may accumulate just inside the tough outer membrane covering the brain (subdural effusions) after several days. Typical signs of Meningitis include seizures, a persistent fever, and an enlarging head size. A brain abscess or subdural pus accumulation may also occur. Water accumulating in the brain (hydrocephalus), deafness and slowed mental and physical development are possible effects of Meningitis on the central nervous system. Neonatal Meningitis: Meningitis in newborn babies can begin during the first 4 weeks of life. It may be caused by infections in parts of the body other than the brain or spine. Some cases may arise from complications occurring at birth. The disorder is characterized by subtle and non-specific signs such as jitteriness, interrupted breathing (apnea), vomiting, diarrhea, and a yellowish skin color (jaundice). Usually signs of infection elsewhere in the body (e.g. middle ear infection) are also present. The cerebrospinal fluid can be tested for a definite diagnosis. Meningitis due to Group B pneumococcus bacteria may be present in the first 10 days of life, when it frequently accompanies a lung illness. Usually, however, this form of Meningitis occurs after 10 days of age as an isolated illness. Neonatal Meningitis is also characterized by symptoms such as fever, drowsiness, and seizures. Causes Meningitis can be caused by different bacteria, viruses and organisms such as Neisseria meningitis, Hemophilus influenzae b, Streptococcus (Diplococcus) pneumoniae, Group A Streptococcus, Escherichia coli or other gram-negative organisms (chiefly Pseudomonas), and Staphylococcus aureus. Recurrent Meningitis occurs in special situations: 1) When there is a communication between the brain and the exterior that may be inborn or occur after an injury; 2) When infection occurs in areas close to the meninges as in mastoid infection, sinus infection, brain abscess, accumulation of pus under the outer meninge (subdural empyema), or spinal epidural abscess; 3) When the patient has impaired immunity against bacteria or other causes of illness. Affected Population Neonatal Meningitis usually occurs during the first 4 weeks of life, and predominantly affects infants of low birth weight who have had complications at birth. This form of the disorder occurs in approximately 2 out of 10,000 full-term infants, and in 2 out of 1,000 low birth weight infants. This form of Meningitis predominantly affects males. Related Disorders Symptoms of the following disorders may resemble those of Meningitis. Comparisons may be useful for a differential diagnosis: Encephalitis is a brain infection. There are different types of this disorder which are caused by different types of viruses. Encephalitis may also be caused by hypersensitivity initiated by a virus or other protein that is foreign to the body. Symptoms may include headache, drowsiness, hyperactivity, and/or general weakness. This disorder may have some symptoms similar to those of Meningitis such as a stiff neck, altered reflexes, confusion, speech disorders, possible convulsions, paralysis and coma. (For more information choose "Encephalitis" as your search term in the Rare Disease Database.) Therapies: Standard Meningitis is usually treated with different types of antibiotics used against the specific bacteria causing the infection. These may include ampicillin, chloramphenicol, gentamicin, penicillin, moxalactam, nafcillin, or in tuberculosis cases isoniazid. Children over 2 years of age can be immunized against Meningitis with the Haemophilus influenzae type b polysaccharide vaccine. A vaccine composed of attenuated bacteria with added protein, has been approved for use in children under two years of age to protect them against Haemophilus influenzae type B Meningitis Therapies: Investigational The orphan product, Amphotericin B Lipid Complex, has been sponsored by the Bristol-Myers Squibb Co., P.O. Box 4000, Princeton, NJ, 08543, for the treatment of Cryptococcal Meningitis. This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Meningitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al., eds.; Little Brown, 1987. Pp. 1494-1502. PREVENTION OF HAEMOPHILUS INFLUENZAE TYPE B INFECTIONS IN HIGH-RISK INFANTS TREATED WITH BACTERIAL POLYSACCHARIDE IMMUNE GLOBULIN: M. Santosham, et al.; New England Journal Med (October 8, 1987: issue 317(15)). Pp. 923-929. PROSPECTS FOR PREVENTION OF HAEMOPHILUS INFLUENZAE TYPE B DISEASE BY IMMUNIZATION: D.M. Granoff, et al.; Journal Infect Dis (March 1986: issue 153(3)). Pp. 448-461. CAPSULAR POLYSACCHARIDE OF HAEMOPHILUS INFLUENZAE TYPE B AS A VACCINE: J.C. Parke, Jr.; Pediatr Infect Dis Journal (August 1987: issue 6(8)). Pp. 795-798. Meningitis "pagetitle 539: Meningitis 03994.TXT ,u,Copyright (C) 1990, 1991 National Organization for Rare Disorders, Inc. 819: Meningitis, Bacterial _________________________ ** IMPORTANT ** It is possible the main title of the article (Bacterial Meningitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Bacterial Meningitis Pyogenic Meningitis Information on the following disorder may be found in the Related Disorders section of this report: Meningitis Encephalitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Bacterial Meningitis is a central nervous system disease caused by certain types of bacteria. Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. Inflammation can begin suddenly (acute) or develop gradually (subacute). Major symptoms may include fever, headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may occur. Symptoms Bacterial Meningitis in adults and children is often preceded by respiratory illness or a sore throat. Most forms of bacterial meningitis are acute. In its acute form, the disorder is characterized by sudden fever, headache, a stiff neck, and vomiting. Adults may become seriously ill within 24 hours. In children, the course of the infection may be even shorter. Symptoms among older children and adults may progress from irritability through confusion, drowsiness, and stupor, possibly leading to coma. Dehydration is common. Other symptoms may include chills, sweating, weakness, loss of appetite, or inability to tolerate bright light (photophobia). Later symptoms may include hydrocephalus (accumulation of fluid in the brain cavity), paralysis of one side of the body (hemiparesis), hearing loss, or other neurological abnormalities. Among infants between 3 months and 2 years of age, fever, refusal of feedings, vomiting, irritability, and convulsions usually occur. A high-pitched cry, and a bulging or tight soft spot (fontanel) on the crown of the head (where the parts of the still unhardened bones join) may also occur. Since the incidence of Meningitis is highest among this age group, any unexplained fever needs to be investigated. Cerebral fluid may accumulate just inside the tough outer membrane covering the brain (subdural effusions) after several days. Typical signs of Meningitis include seizures, a persistent fever, and an enlarging head size. A brain abscess or subdural pus accumulation may also occur. Water accumulating in the brain (hydrocephalus), deafness and slowed mental and physical development are possible effects of Bacterial Meningitis on the central nervous system. A neonatal form of Bacterial Meningitis in newborn babies up to 4 weeks old may be caused by infections in parts of the body other than the brain or spine. Some cases may arise from complications occurring at birth. The disorder is characterized by subtle and nonspecific signs such as jitteriness, interrupted breathing (apnea), vomiting, diarrhea, and a yellowish skin color (jaundice). Usually signs of infection elsewhere in the body (e.g. middle ear infection) are also present. The cerebrospinal fluid can be tested for a definite diagnosis. Bacterial Meningitis due to Group B pneumococcus bacteria may be present in the first 10 days of life, when it frequently accompanies a lung illness. Usually, however, this form of Meningitis occurs after 10 days of age as an isolated illness. Other symptoms such as fever, drowsiness, and seizures may occur. Causes Bacterial Meningitis is the most common type of meningitis. Three types of bacteria are responsible for 80% of all Bacterial Meningitis. These are: 1) Hemophilus influenzae (type B), 2) Streptococcus pneumoniae (Pneumococcus), and 3) Neisseria meningitidis (Meningococcus). (For more information on Meningococcal Meningitis, choose "meningococcal" as your search term in the Rare Disease Database). All three types occur most often in winter. Gram-negative bacteria such as Escherichia coli, Klebsiella-Entero, or Pseudomonas often cause Bacterial Meningitis in newborn infants. Other types of bacteria that may cause the disorder are Streptococci, Staphylococci (Staphylococcus aureus) or listeria monocytogenes. Bacterial Meningitis due to hemophilus influenza type B bacteria occurs most often in infants over 1 month old and young children. It usually does not occur in adults except in relation to another condition such as head trauma or impaired immunity. Bacterial Meningitis caused by pneumococcus occurs most often in adults, especially those with alcoholism, chronic otitis (inflammation of the ear), sinusitis (inflammation of the mucous membranes lining the sinuses that open into the nose), mastoiditis (infection of the bone located behind the ear), closed head injury, recurrent meningitis, pneumococcal pneumonia, or sickle cell anemia. (For more information choose "meningitis," or "sickle" as your search terms in the Rare Disease Database). Bacterial Meningitis from gram-negative organisms such as Escherichia coli and Klebsiella-Enterobacter is called Gram-negative Meningitis and frequently occurs after central nervous system trauma or surgery, or from blood poisoning). Newborns or people who have impaired immunity may also become infected. Staphylococcal Meningitis (from Staphylococcus bacteria), another form of Bacterial Meningitis, occurs after blood poisoning (e.g., from endocarditis which is inflammation of the inner lining of the heart), open head trauma, or neurosurgery. Listeria Meningitis is another form of meningitis that occurs in newborns, in patients who have chronic renal (kidney) failure, or adults taking immunosuppressive drugs (e.g. organ transplant patients). (For more information on Listeria, choose "Listeria" as your search term in the Rare Disease Database). Intravenous drug use from unsterilized needles can cause blood poisoning that may lead to Bacterial Meningitis. Of all bacteria causing Bacterial Meningitis, Hemophilus influenza type B is the most common and represents almost half of all Bacterial Meningitis cases. Meningococcal Meningitis represents about 27 per cent, and Pneumococcal Meningitis represents about 11 per cent. Affected Population In the United States, about 20,000 to 25,000 cases of Bacterial Meningitis are reported annually. About 70 per cent of all Bacterial Meningitis occurs in children aged 5 and under, especially those under the age of two. Males are affected more often than females. Bacterial Meningitis in general occurs most often during the first month of a newborn's life and is usually caused by gram-negative bacteria such as Escherichia coli or by group B streptococcus. Bacterial Meningitis caused by Hemophilus influenzae type B occurs most often in infants over 1 month old and young children. Bacterial Meningitis caused by pneumococcus bacteria occurs most often in adults. Related Disorders Symptoms of the following disorders may resemble those of Meningitis. Comparisons may be useful for a differential diagnosis: Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation may be caused by different types of bacteria, viruses, fungi, malignant tumors, or chemical reactions to certain injections into the spinal canal. (For more information on other types of Meningitis, choose "meningitis" as your search term in the Rare Disease Database). Encephalitis is a brain infection. There are different types of this disorder which are caused by different types of viruses. Encephalitis may also be caused by hypersensitivity initiated by a virus or other protein that is foreign to the body. Symptoms may include headache, drowsiness, hyperactivity, and/or general weakness. This disorder may have some symptoms similar to those of Meningitis such as a stiff neck, altered reflexes, confusion, speech disorders, possible convulsions, paralysis and coma. (For more information choose "Encephalitis" as your search term in the Rare Disease Database). Therapies: Standard Testing for Bacterial Meningitis may include imaging techniques such as CT scans or MR imaging. Other testing may include examination of the patient's blood and/or skin. Diagnosis is made by examination of the cerebrospinal fluid. Bacterial Meningitis is usually treated with different types of antibiotics used against the specific bacteria causing the infection. These may include ampicillin, chloramphenicol, gentamicin, penicillin, moxalactam, nafcillin, cefuroxime, cefotaxime, ceftizoxime, oxacillin, vancomycin, or rifampin. The addition of dexamethasone to the antibiotic treatment is also being used and is helpful in reducing meningeal inflammation. For children under 5 who have come in close contact with a person having Meningitis caused by Hemophilus influenzae, the drug rifampin may be prescribed as a preventative measure. Children over 2 years of age can be immunized against Meningitis with the Hemophilus influenzae type b polysaccharide vaccine. A vaccine composed of attenuated bacteria with added protein, has been approved for use in children under two years of age to protect them against Hemophilus influenzae type B Meningitis. Therapies: Investigational This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Bacterial Meningitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 57, 65, 1604-1610. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1494-1502. BACTERIAL MENINGITIS IN OLDER CHILDREN. W. A. Bonadio, et al.; Am J Dis Child (Apr 1990; issue 144 (4)). Pp. 463-465. CEFTRIAXONE ALONE COMPARED TO AMPICILLIN AND CHLORAMPHENICOL IN THE TREATMENT OF BACTERIAL MENINGITIS. N. I. Girgis; Chemotherapy (1988; issue 34 (Suppl 1)). Pp. 16-20. Gd-DTPA-ENHANCED MR IMAGING OF THE BRAIN IN PATIENTS WITH MENINGITIS: COMPARISON WITH CT. K. H. Chang, et al.; AJR Am J Roentgenol (April 1990; issue 154 (4)). Pp. 809-816. Meningitis, Bacterial -pagetitle 819: Meningitis, Bacterial 03995.TXT @(0(Copyright (C) 1990 National Organization for Rare Disorders, Inc. 805: Meningitis, Meningococcal _________________________ ** IMPORTANT ** It is possible the main title of the article (Meningitis, Meningococcal) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Meningococcal Meningitis Bacterial Meningococcal Meningitis Epidemic Cerebrospinal Meningitis Information on the following disorders may be found in the Related Disorders section of this report: Meningitis Encephalitis Rocky Mountain Spotted Fever General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Meningococcal Meningitis is a form of meningitis caused by a specific bacteria known as Neisseria meningitidis. Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation can begin suddenly (acute) or develop gradually (subacute). Symptoms may include fever, headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may occur. Skin rashes occur in about half of all patients with Meningococcal Meningitis. Treatment with antibiotics and other drugs is usually effective against this infection. Symptoms Meningococcal meningitis is one of the three most common types of bacterial meningitis. It progresses more rapidly than any other acute form of bacterial meningitis. Meningococcal Meningitis involves the central nervous system. In adults and children it is often preceded by respiratory illness or a sore throat. In its acute form, the disorder is characterized by fever, headache, a stiff neck, and vomiting. Adults may become seriously ill within hours. In children the course of the infection may be even shorter. Symptoms among older children and adults may progress from irritability to confusion, drowsiness, and stupor, possibly leading to coma. Skin rashes occur in about half of all patients with Meningococcal Meningitis. Swelling or inflammation of the brain (cerebral edema, ventriculitis), or hydrocephalus (accumulation of fluid in the brain cavity) may also occur. Other symptoms may include chills, sweating, weakness, loss of appetite, muscle pain (myalgia) of the lower back or legs, or inability to tolerate bright light (photophobia). (For more information on hydrocephalus, choose "hydrocephalus" as your search term in the Rare Disease Database). Dehydration often occurs, and collapse of the blood vessels may lead to shock (Waterhouse-Friderichsen Syndrome) when the meningococcus bacteria spreads to the blood (septicemia). Later symptoms may include paralysis of one side of the body (hemiparesis), hearing loss, or other neurological abnormalities. The course of Meningococcal Meningitis is less predictable among infants between 3 months and 2 years of age. Fever, refusal of feedings, vomiting, irritability, and convulsions usually occur. A high-pitched cry, and a bulging or tight soft spot (fontanel) on the crown of the head (where the parts of the skull's still unhardened bones join) may also occur. Since the incidence of most types of Meningitis is highest among this age group, any unexplained fever needs to be closely watched. Cerebral fluid may accumulate just inside the tough outer membrane covering the brain (subdural effusions) after several days. Warning signs may include seizures, a persistent fever, and an enlarging head size. A brain abscess or subdural pus accumulation may also occur. Water accumulating in the brain (hydrocephalus), deafness and slowed mental and physical development are possible consequences of Meningitis. Causes Meningococcal Meningitis is caused by a bacteria known as Neisseria meningitidis. There are several types, or serogroups, of Neisseria meningitidis. The most common of these serogroups are A, B, C, D, X, Y, 29E, and W135. Serogroups A, B, C, and Y are responsible for most meningococcal diseases. The bacteria is spread by droplets in the air or close contact with an infected person. It collects in the nasopharynx, or post-nasal space, that connects the nasal cavities with the throat. The bacteria is transported to the membranes (meninges) around the brain or spinal cord by the blood. It usually spreads from nearby infected areas such as the nasal sinuses, or from the cerebrospinal fluid. Affected Population Meningococcal Meningitis primarily affects infants, children, and young adults. Males are affected slightly more than females. Meningococcal Meningitis can occur as an epidemic in subgroups such as people in the military services or students in dormitories. Vaccines can help control meningitis epidemics caused by serogroups A, C, Y, or W135. In the United States, most cases of Meningococcal Meningitis involve infants and military recruits, and tend to be caused by serogroup B of the bacteria. It occurs most often during winter or spring. Between 1984 and 1986, 2,400 to 2,700 cases of meningococcal infection were reported annually in the United States. Related Disorders Symptoms of the following disorders may resemble those of Meningococcal Meningitis. Comparisons may be useful for a differential diagnosis: In general, Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation may be caused by different types of bacteria, viruses, fungi, malignant tumors, or reactions to certain injections into the spinal canal. (For more information on other types of Meningitis, choose "meningitis" as your search term in the Rare Disease Database). Encephalitis is a brain infection. There are different types of this disorder which are caused by different types of viruses. Encephalitis may also be caused by hypersensitivity initiated by a virus or other protein that is foreign to the body. Symptoms may include headache, drowsiness, hyperactivity, and/or general weakness. This disorder may have some symptoms similar to those of Meningitis such as a stiff neck, altered reflexes, confusion, speech disorders, convulsions, paralysis and coma. (For more information choose "Encephalitis" as your search term in the Rare Disease Database). Rocky Mountain Spotted Fever is an acute infectious disorder transmitted to humans through the bite of an infected tick, usually in wooded areas of the midwest, eastern and southeastern United States. Fever and rash are among major symptoms. The rash may not develop in all cases, possibly making diagnosis difficult. Swelling (edema), headache, chills, weakness and muscle pains may also occur. Severe headaches, lethargy, confusion, delirium, focal neurological deficits, increased pressure in the skull leading to pressure on and swelling of the optic disk (papilledema), seizures and/or coma may occur in untreated cases as the nervous system is progressively affected. Some patients may have a stiff neck due to muscle pain (myalgia) or irritation of membranes surrounding the brain and spinal cord tissue (meningismus). (For more information on this disorder, choose "Rocky Mountain Spotted Fever" as your search term in the Rare Disease Database). Therapies: Standard Testing for Meningococcal Meningitis may include imaging techniques such as CT scans or magnetic resonance imaging (MRI). Other testing may include examination of the patient's blood and/or skin. Diagnosis is made by examination of the cerebrospinal fluid. Meningococcal Meningitis is usually treated with antibiotic drugs used against the bacteria causing the infection. Penicillin G or ampicillin are often prescribed. Alternative drugs include chloramphenicol, cefuroxime, cefotaxime, ceftriaxone, or ceftizoxime. Family members of those infected can be treated with Rifampin as a preventative measure; however, for pregnant women, ceftriaxone is recommended. Epidemics caused by the bacteria (Neisseria meningitidis) serogroups A, C, Y, or W135 can be controlled with a meningococcal vaccine that prevents infection in vaccinated people. Therapies: Investigational This disease entry is based upon medical information available through August 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Meningococcal Meningitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 65, 1604-1621. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1494-1502, 1666-1669. BACTERIAL MENINGITIS IN OLDER CHILDREN. W.A. Bonadio, et al.; Am J Dis Child (Apr 1990; issue 144 (4)). Pp. 463-465. CEFTRIAXONE ALONE COMPARED TO AMPICILLIN AND CHLORAMPHENICOL IN THE TREATMENT OF BACTERIAL MENINGITIS. N.I. Girgis; Chemotherapy (1988; issue 34 (Suppl 1)). Pp. 16-20. CONTROL OF AN OUTBREAK OF GROUP C MENINGOCOCCAL MENINGITIS WITH A POLYSACCHARIDE VACCINE. R. G. Masterton, et al.; J Infect (Sept 1988; issue 17 (2)). Pp. 177-182. Gd-DTPA-ENHANCED MR IMAGING OF THE BRAIN IN PATIENTS WITH MENINGITIS: COMPARISON WITH CT. K. H. Chang, et al.; AJR Am J Roentgenol (April 1990; issue 154 (4)). Pp. 809-816.. Meningitis, Meningococcal shoM) P)pagetitle 805: Meningitis, Meningococcal 03964.TXT FuFCopyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 449: Manic Depression, Bipolar _________________________ ** IMPORTANT ** It is possible the main title of the article (Bipolar Manic Depression) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms BMD Bipolar Disorder, Manic Depression Bipolar Disorder, Mixed Manic Depression Manic Depressive Disorder Manic Depressive Illness Manic Depressive Psychosis Includes: Bipolar Disorder, Manic Bipolar Disorder, Depressed Information on the following disorders can be found in the Related Disorders section of this report: Atypical BMD Bipolar II Bipolar Disorder, Atypical Cyclothymic Disorder Dysthymic Disorder (Depressive Neurosis) Major Depression, Single Episode Major Depression, Recurrent General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Bipolar Manic Depression is a mental illness in which intense mood swings occur, usually with remissions and recurrences. Depressive symptoms may be most common and can last at least a full day and perhaps several weeks or longer. Manic symptoms may involve hyperactivity and feelings of invincibility, happiness and restlessness. Symptoms Bipolar Manic Depression consists of two distinct episodes which can alternate every few days or weeks. A manic episode usually consists of an elevated mood with hyperactivity, while a major depressive episode is marked by depression, anxiety, tearfulness and excessive sleepiness, possibly leading to stupor. The course of the disorder varies widely from mild to severe forms. Some individuals may have episodes separated by many years of normal functioning; others may have clusters of episodes; and still others experience an increased frequency of episodes as they get older. However, 20% to 35% of cases follow a chronic course with considerable residual symptomatic and social impairment. MANIC EPISODES: During a manic episode, the patient's predominant mood is either elevated, expansive, or irritable. Associated symptoms of the manic phase include hyperactivity, excessive talking, flights of ideas, inflated self-esteem, decreased need for sleep, distractibility, and excessive involvement in activities which may have an unrecognized potential for painful consequences (i.e. charging large sums of money to credit cards without a thought as to the consequences of having to pay off the loans). The elevated mood may be described as euphoric, cheerful, or "high". Often this good mood has an infectious quality for the uninvolved observer, but is usually recognized as excessive by those who know the individual well. The expansive quality of the mood disturbance is often characterized by unceasing and unselective enthusiasm for interacting with people. Although an elevated mood is considered the most recognizable manic symptom, the predominant mood may also appear as irritability, which may become apparent when the individual's efforts or ideas are thwarted. The hyperactive mood may also involve excessive planning of, and participation in multiple activities (e.g., sexual, occupational, political, religious). Increased sociability, including efforts to renew old acquaintances or calling friends at all hours of the night can also occur. The intrusive, domineering, and demanding nature of these behaviors is not recognized by the person with Manic Depressive illness. Expansiveness, unwarranted optimism, grandiosity, and lack of realistic judgment can frequently lead to irresponsible activities such as buying sprees, reckless driving, foolish business investments, and sexual behavior unusual for the individual. Sometimes these activities have a disorganized, flamboyant, or bizarre quality such as dressing in exceptionally colorful or strange garments, wearing excessive or poorly applied make-up, or distributing candy, money, or advice to passing strangers. Manic speech is typically loud, rapid, and difficult to interrupt. Often it is full of jokes, puns (plays on words), and amusing irrelevancies. In severe cases, it may become theatrical, with dramatic mannerisms or singing. If the manic mood is more irritable than expansive, there may be complaints, hostile comments, and angry tirades. Frequently Bipolar Manic Depression patients experience a nearly continuous flow of accelerated speech with abrupt changes from topic to topic, usually based on understandable associations, distracting stimuli, or plays on words. When this "flight of ideas" is severe, the patient's speech may become disorganized and incoherent. Distractibility is usually intense. The patient may overreact to various irrelevant external stimuli, such as background noise or pictures hanging on the wall. Characteristically, there is inflated self-esteem ranging from intense self-confidence to marked grandiosity, which is often a delusion. For instance, the patient may offer advice on matters about which he/she has no special knowledge, such as how to run a hospital or the United Nations. Despite a lack of any particular talent, a novel may be started, music composed, or publicity sought for some impractical invention. In severe cases, grandiose delusions involving a special relationship to God or some well-known figure from the political, religious, or entertainment world are also common. Almost invariably the patient experiences a decreased need for sleep during manic periods. The individual may awaken several hours before the usual time, full of energy. When the sleep disturbance is severe, the individual may go for days without any sleep at all and yet not feel tired. DEPRESSIVE EPISODES: Mood swings marked by rapid shifts from manic episodes to anger or depression often occur. Depression, expressed by tearfulness, suicidal thoughts, excessive sleep or other depressive symptoms, may last hours, days or weeks. At times, the depressive and manic symptoms may intermingle, occurring together, but more commonly, they alternate. In Mixed Bipolar Disorder, the depressive symptoms tend to be more prominent and last at least a full day. Rarely, hallucinations may appear. Their content is usually clearly consistent with the predominant mood (e.g., the patient may hear God's voice explaining that the individual has a special mission). Persecutory delusions may be based on the idea that the individual is being persecuted because of some special relationship or attribute. Less commonly, the content of the hallucinations or delusions has no apparent relationship to the predominant mood (mood-incongruent). MAJOR DEPRESSIVE EPISODES: Major depressive episodes are primarily characterized by either a bad mood, a loss of interest in all (or almost all) usual activities and pastimes, and often a need to sleep excessively. This disturbance is prominent, relatively persistent, and associated with other symptoms including appetite disturbance, change in weight, sleep disturbance, decreased energy, feelings of worthlessness or guilt, difficulty concentrating or thinking, and thoughts of death or suicide. An individual experiencing a depressive episode will usually describe his or her mood as depressed, sad, hopeless, discouraged, down in the dumps, etc. Sometimes, however, the mood disturbance may be expressed as "not caring anymore", or as a painful inability to experience pleasure. Loss of interest in pleasure is always present in a major depressive episode to some degree, but the individual may not complain of this or even be aware of it, although family members may notice. Withdrawal from friends and family, and neglect of avocations that were previously a source of pleasure, are common. Appetite can be either markedly decreased or increased, with attendant loss or gain in weight. Sleep patterns are commonly disturbed, including either an inability to fall asleep (insomnia), or more often an increased need to sleep (hypersomnia) for many hours each day. Insomnia may be characterized as difficulty falling asleep (initial insomnia), waking up during sleep and then returning to sleep with difficulty (middle insomnia), or early morning awakening (terminal insomnia). Psychomotor agitation may also occur. This symptom is characterized by an inability to sit still, pacing, fidgeting, handwringing, possible pulling or rubbing of hair, skin, clothing, or other objects, outbursts of complaining or shouting, or excessive speech. Psychomotor retardation can also be present and may take the form of slowed speech, increased pauses before answering, low or monotonous speech, slowed body movements, a markedly decreased amount of speech, or an absence of speech (muteness). A decrease in energy level is almost invariably present during an episode of depression. Fatigue persists even in the absence of physical exertion. The smallest task may seem difficult or impossible to accomplish during severe depressions. A sense of worthlessness varies from feelings of inadequacy to completely unrealistic negative evaluations of one's worth. The individual may reproach himself or herself for minor failings that are exaggerated, and may search for some confirmation of the negative self-evaluation from others. The sense of worthlessness and guilt may be delusional. Difficulty in concentrating, slowed thinking, and indecisiveness are also frequent symptoms. The individual may complain about loss of memory and may appear easily distracted. Thoughts of death or suicide are common. There may be fear of dying, the belief that the individual or others would be better off dead, wishes to die, or planned or attempted suicide. The symptoms of Bipolar Manic Depressive illness can be so mild that they may not be recognized, or so severe that a patient may be completely disabled. ASSOCIATED SYMPTOMS OF MAJOR DEPRESSION INCLUDE: A depressed appearance, tearfulness, feelings of anxiety, irritability, fear, brooding, excessive concern with physical health, panic attacks and phobias. Causes Bipolar Manic Depression can be a genetic disorder inherited through dominant genes, either autosomal or sex-linked. A chromosome marker has been identified in some people with this disorder which may lead to the discovery of the defective gene that causes this illness. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However the affected male always has a more severe condition. The exact causative mechanism of this illness is not well understood, but metabolic abnormalities of chemicals in the brain may interfere with the normal transmission of electrical impulses between the nerve cells of the brain. These chemicals (neurotransmitters) include norepinephrine, dopamine, or serotonin. Drugs such as steroidal contraceptives, sedatives, and amphetamines can cause depressive episodes, while corticosteroids, amphetamines, and tricyclic antidepressants may cause manic episodes. Certain infectious diseases such as influenza, mononucleosis, and syphilis can also cause depression and/or manic episodes. The autoimmune disease Lupus, and neurologic disorders such as Parkinson's Disease or Multiple Sclerosis, may also cause depressive mood swings. Stress can trigger these episodes in people who are susceptible to these mood swings. (For more information on these disorders, choose the following words as your search terms in the Rare Disease Database: lupus, ms and Parkinson. Information on syphilis and mononucleosis can be found in the Prevalent Health Conditions/Concerns area of NORD Services.) Affected Population 0.4% to 1.2% of the adult population may have Bipolar Manic Depression although only a small portion may have symptoms severe enough to interfere with functioning. Average age of onset of Bipolar Manic Depression is 35 years old. The disorder appears to affect more females than males. Related Disorders Major Depression is a common mental disorder affecting perhaps 2 million adults in the United States. Recurrent Major Depression involves all the symptoms of a Major Depressive episode, but episodes are recurrent. Cyclothymic Disorder is characterized by a chronic mood disturbance of at least two years' duration, involving numerous periods of depression and a mild form of over-elation and hyperactivity (hypomania). Symptoms may be less severe than those of major depressive and manic episodes. Dysthymic Disorder (Depressive Neurosis) is characterized by a mild chronic depression or loss of interest or pleasure in usual activities and pastimes. Severity and duration of episodes are often less than in a major depressive episode. Atypical Bipolar Disorder is a category for individuals with manic symptoms who cannot be classified as having Bipolar Disorder or Cyclothymic Disorder. For example, an individual who previously had a major depressive episode and now has an episode with mild manic symptoms that are not of sufficient severity and duration to meet the criteria for a manic episode can be classified as Atypical Bipolar Disorder; this illness is also referred to as "Bipolar II". Therapies: Standard Standard treatment of Bipolar Manic Depression is usually with the drug lithium. Several tests should be performed to insure tolerance for this drug. Side effects of lithium therapy which occur often are a need for excessive fluid consumption and frequent urination. Tricyclic antidepressants may also be prescribed to treat depressive episodes. If the patient does not respond to the tricyclics, monoamine oxidase inhibitors (MAOIs) may be prescribed. Psychotherapeutic interventions with patient and family may also be helpful. In general lithium is an effective therapy for Bipolar Disease if a patient complies with the treatment regimen. Since some patients miss the euphoria of manic episodes, they may stop taking the medication against physicians advice. For the depressive symptoms in Bipolar Manic Depression electroconvulsive therapy (ECT) has been used in the most serious cases. Therapies: Investigational Since the chromosome defect that causes Bipolar Disease has recently been identified it is hoped that a genetic test may be developed in the near future. Furthermore, discovery of the gene may lead to a better understanding of Bipolar illness so that it may someday be prevented or more adequately controlled by improved drugs. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Bipolar Manic Depression, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Manic & Depressive Support Group, Inc. 15 Charles Street, 11 H New York, NY 10014 (212) 924-4979 Manic Depressive/Depressive Association P.O. Box 753 Northbrook, IL 60062 (312) 446-9009 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) National Mental Health Association 1021 Prince Street Alexandria, VA 22314 (703) 684-7722 National Alliance for the Mentally Ill 1901 North Fort Meyer Drive, Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 South Juniper Street, Room 902 Philadelphia, PA 19107 (215) 735-2481 Helping Hands 109 Chestnut Street Andover, MA 01810 (617) 475-6888 (617) 475-3388 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References LITHIUM AUGMENTATION IN PSYCHOTIC DEPRESSION REFRACTORY TO COMBINED DRUG TREATMENT: J.C. Nelson, et al.; American Journal Psychiatry (March 1986: issue 143(3)). Pp. 363-366. ATTEMPTED SUICIDE IN MANIC-DEPRESSIVE DISORDER: N. Goldring, et al.; American Journal Psychother (July 1984: issue 38(3)). Pp. 373-383. ECT IN PRIMARY AND SECONDARY DEPRESSION: C.F. Zorumski, et al.; Journal Clin Psychiatry (June 1986: issue 47(6)). Pp. 298-300. DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3d ed.: R.L. Spitzer, et al., Eds; American Psychiatric Association, 1984.) Pp. 206-218. Manic Depression, Bipolar Gpagetitle 449: Manic Depression, Bipolar 03965.TXT Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 420: Mannosidosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Mannosidosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Lysosomal Alpha-D-Mannosidase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Mucopolysaccharidosis, Type I Pseudo-Hurler Polydystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration. A deficiency of the enzyme alpha-D-mannosidase causes the symptoms of this disorder which can vary in severity. Symptoms of the most severe form may begin within the first year of life while a milder form may begin during juvenile or adult years. Symptoms Symptoms of the most severe form of Mannosidosis may begin within the first year of life. This form is characterized by rapid progression of mental retardation, liver and spleen enlargement, skeletal abnormalities, and coarse facial features. A milder form of this disorder involves normal early development although mild to moderate mental retardation may develop during childhood or adolescence. The clinical progression of the disease appears to slow down or stop beyond school age in some patients. Facial abnormalities such as a prominent forehead and jaw, a flattened nose, widely spaced or unevenly developed teeth, a thick tongue and lips, and clouded eye lenses or corneas may develop in both forms of Mannosidosis. The abdomen may become distended with enlargement of the liver and spleen. Growth rates can fluctuate with accelerated early growth, but subsequent impaired growth causing short stature. Thin arms and/or legs with stiff joints may develop. Spinal abnormalities may lead to extreme curvature in some cases. A diminished immune system response can make patients overly susceptible to bacterial infections, particularly of the respiratory system. Hearing loss may occur in either form of Mannosidosis. Causes Mannosidosis is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Symptoms are caused by an inborn error of enzyme metabolism involving abnormal accumulations of carbohydrate compounds (mannose-rich glycoproteins and oligosaccharides) in various tissues and body fluids. Affected Population Mannosidosis is a very rare disorder probably affecting only a few hundred people in the United States. This disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to Mannosidosis. Comparisons may be useful for a differential diagnosis: Mucopolysaccharidoses (MPS disorders) are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. A deficiency of the enzyme alpha-L-iduronidase causes symptoms of Type I MPS disorders. (For more information on MPS Disorders, choose "MPS" as your search term in the Rare Disease Database). Pseudo-Hurler Polydystrophy (Mucolipidosis III) is a genetic disorder beginning during childhood. This disorder is characterized by symptoms such as painless joint stiffness, decreased mobility, short stature, some coarseness of the facial features, mild mental retardation, multiple defective bone formations, and aortic valve heart disease. Mobility may gradually diminish until puberty after which no further changes occur. Pseudo-Hurler Polydystrophy is a milder form of I-cell Disease (Mucolipidosis II). (For more information on Pseudo-Hurler Polydystrophy, use "I-Cell" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Mannosidosis is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Bone marrow transplants as a means of enzyme replacement is under investigation for treatment of lysosomal storage disorders, such as Mannosidosis. More research is needed before direct enzyme replacement therapy or bone marrow transplants can be recommended for use in treating patients with Mannosidosis. Pediatric hematologists are developing an international registry for Blackfan-Diamond Anemia. Families are urged to contact: Dr. Blanche P. Alter Mt. Sinai Medical Center Division of Hematology One Gustave Levy Place New York, NY 10029 (212) 241-8109 This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mannosidosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 736-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 Mannosidosis[ pagetitle 420: Mannosidosis 03966.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 131: Maple Syrup Urine Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Maple Syrup Urine Disease) is not the name you expected. Please check the SYNONYM listing to find the synonyms and disorder subdivisions covered by this article. Synonyms Ketoaciduria Branched Chain Ketonuria Menke's Syndrome I General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Maple syrup urine disease results from abnormal metabolism of the four "branched chain" amino acids (protein building blocks), leucine, isoleucine, valine, and alloisoleucine. Spasticity alternating with poor muscle tone, convulsions, and possibly fatal coma characterize the disease. It derives its name from the odor of patients' urine and sweat. Maple syrup urine disease is a hereditary condition. Symptoms Newborns afflicted with Maple syrup urine disease appear normal at first, but develop symptoms several days later. These include the characteristic odor of sweat and urine, poor feeding, lethargy, and lack of awareness or alertness. Brain damage can occur rapidly and is manifested by spasticity or excessively strong reflexes alternating with periods of flaccidity. If the infant survives past a few months, mental retardation becomes apparent. Blood tests reveal high levels of leucine, isoleucine, and valine. Causes Maple syrup urine disease results from a defective enzyme blocking the decarboxylation of branched chain keto-acids, which include the amino acids leucine, isoleucine, valine, and alloisoleucine. The excessive accumulation of these substances cause severe neurological damage. The disorder is transmitted by an autosomal recessive gene. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Both sexes are affected. Maple syrup urine disease is extremely rare. Therapies: Standard Treatment of Maple Syrup Urine Disease should start as early as possible after birth. Toxins are removed by peritoneal dialysis with exchange transfusions lacking leucine, isoleucine, and valine, or with multiple or prolonged exchange transfusions. Positive calorie supplementation is also recommended. Children with this disorder must stay on a strict diet established by a physician avoiding certain amino acids. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Maple Syrup Urine Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Families with Maple Syrup Urine Disease Route 2, Box 24-A Flemingsburg, KY 41041 (606) 849-4679 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 2084. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1150, 1159. Maple Syrup Urine Disease pagetitle 131: Maple Syrup Urine Disease 03967.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 833: Marcus Gunn Phenomenon _________________________ ** IMPORTANT ** It is possible that the main title of the article (Marcus Gunn Phenomenon) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Jaw-winking Maxillopalpebral Synkinesis Marcus Gunn Ptosis (with jaw-winking) Marcus Gunn (Jaw-Winking) Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Facial Nerve Injury Marin-Amat Syndrome (Inverse Marcus Gunn Phenomenon) Oral-Facial-Digital Syndrome Faciopalpebral Synkinesis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Marcus Gunn Phenomenon is a rare genetic disorder that is usually present at birth. Major symptoms include the upper eyelid of one eye raising rapidly upon movement of the jaw. This disorder can be corrected with surgery. Symptoms The upper eyelid of one eye droops in most patients with Marcus Gunn Phenomenon. The major symptom of this disorder is that upon movement of the lower jaw, the eyelid of the affected eye involuntarily and rapidly raises, causing the eye to open wider. This first becomes apparent soon after the baby is born when, during feeding, sucking causes the eyelid to move up and down. In some patients, one eye may be either crossed or looking away; i.e., deviates in a different direction from the normal eye (strabismus), or one eye may have better sight than the other. Other eye problems (anisometropia, superior rectus muscle palsy) may also be present. Causes Marcus Gunn Phenomenon may be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Marcus Gunn Phenomenon is a rare genetic disorder present at birth. It affects males and females in equal numbers. Related Disorders Marcus Gunn Phenomenon may occur in conjunction with certain other eye disorders such as Duane Syndrome, or possibly Retinitis Pigmentosa. (For more information on these disorders, choose "Duane," or "Retinitis Pigmentosa" as your search term in the Rare Disease Database). Certain types of injury to the facial nerve may produce symptoms similar to Marcus Gunn Phenomenon. Marin-Amat Syndrome is similar to Marcus Gunn Phenomenon except that the eye closes, rather than opens wider, when the jaw moves to open the mouth. This disorder is also referred to as "Inverse Marcus Gunn Phenomenon." Oral-Facial-Digital Syndrome is a rare genetic disorder. In patients with Type III of this syndrome, upon movement of the lower jaw the eyelid involuntarily and rapidly raises, causing the eye to open wider (jaw-winking). More than the normal number of teeth are usually present. Other major symptoms may include disturbances involving the nervous and muscle (neuromuscular) systems, congenital (present at birth) malformations such as cleft palate, other facial deformities, malformation of the hands and feet, shortened limbs and various degrees of mental retardation. (For more information on this disorder, choose "Oral-Facial-Digital" as your search term in the Rare Disease Database). Faciopalpebral Synkinesis is a rare disorder characterized by the upper eyelid of one eye raising when the individual smiles. Therapies: Standard Surgery can correct the eyelid abnormalities of Marcus Gunn Phenomenon. Genetic counseling may be of benefit for patients and their families. Other related eye problems such as strabismus, amblyopia, etc., can be corrected with eyeglasses, surgery and/or drugs. Therapies: Investigational Scientists are trying to identify the gene that causes Marcus Gunn Phenomenon. Research and genetic studies are ongoing. This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Marcus Gunn Phenomenon, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 599. AUDITORY BRAIN-STEM RESPONSES IN MARCUS GUNN PTOSIS. D. J. Creel, et al.; Electroencephalogr Clin Neurophysiol (Jul 1984; issue 59 (4)). Pp. 341-344. LEVATOR SLING FOR MARCUS GUNN PTOSIS. S. M. Betharia and S. Kumar; Br J Ophthalmol (Sep 1987; issue 71 (9)). Pp. 685-689. THE MARCUS GUNN PHENOMENON. A REVIEW OF 71 CASES. S. G. Pratt, et al.; Ophthalmology (Jan 1984; issue 91 (1)). Pp. 27-30. Marcus Gunn Phenomenone pagetitle 833: Marcus Gunn Phenomenon 03968.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 895: Marden-Walker Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Marden-Walker Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Connective Tissue Disorder, Marden-Walker Type MWS Information on the following diseases can be found in the Related Disorders section of this report: Arthrogryposis Multiplex Congenita Cerebro-Oculo-Facio-Skeletal Syndrome Schwartz-Jampel Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Marden-Walker Syndrome is a rare connective tissue disorder that is inherited as an autosomal recessive trait. Patients with this disorder typically have a distinct face, a cleft or high-arched palate, bone joints in a fixed position, growth delay and limited control of muscle movement. Marden-Walker Syndrome affects males more often than females. Symptoms Patients with Marden-Walker Syndrome have distinct facial features including an abnormality of the jaw, droopy eyelids, a flat bridge of the nose, low-set ears, and a fixed facial position. Other characteristics of this disorder are curvature of the spine causing a hunchback, bent joints that will not move (joint contractures), a cleft or high-arched palate, growth delay, and slow muscle movement. Other symptoms of Marden-Walker Syndrome may include a small head circumference, heart abnormalities, an irregular sexual and urinary system, a decrease in bone mass, a breastbone that pushes out or sinks in, a small projecting piece of tissue on the front of the outer ear (preauricular tag), abnormally small eyes, a short neck, a small mouth and/or a low hairline. A condition in which extra tissue causes obstruction of the small intestine (duodenal bands); narrowing of the ring that separates the stomach from the first part of the small intestine causing a blockage in the flow of partly digested food (pyloric stenosis); and/or loss of appetite, failure of the body to absorb nutrients adequately, stomach pain and weight loss caused by a condition in which there are not enough pancreatic hormones or enzymes (pancreatic insufficiency) have all been associated with Marden-Walker Syndrome. Causes Marden-Walker Syndrome is inherited through an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Marden-Walker Syndrome is a very rare disorder that affects males more often than females with a ratio of 11 to 3. There have been approximately twenty cases reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Marden-Walker Syndrome. Comparisons may be useful for a differential diagnosis: Arthrogryposis Multiplex Congenita is a rare congenital disease characterized by reduced mobility of multiple joints at birth due to proliferation of fibrous tissue. Typically the range of motion of the joints of all limbs is limited. (For more information on this disorder choose "Arthrogryposis Multiplex Congenita" as your search term in the Rare Disease Database). Cerebro-Oculo-Facio-Skeletal Syndrome is a genetic degenerative disorder of the brain and spinal chord that is present at birth. The disorder is characterized by an extremely small head, abnormally small eyes, clouding of the eye's lens (cataract), a horizontally narrow opening between the eyelids, abnormally large ears, a small jaw, fixed bending of the elbows and knees, and/or a hunched back. Cerebro-Oculo-Facio-Skeletal Syndrome is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Cerebro-Oculo-Facio-Skeletal Syndrome" as your search term in the Rare Disease Database). Schwartz-Jampel Syndrome is a rare disorder inherited through an autosomal recessive trait. People with this disorder have muscles that do not relax after contracting (myotonia). The main characteristics of Schwartz-Jampel Syndrome are abnormal bone formation and abnormalities of the face and eyes. Other abnormalities that may be found in some patients with this disorder are short stature, low birth weight, a short neck, a pigeon breast, curvature of the spine causing a hunchback and/or a condition in which the joints are bent and will not move (joint contractures). Therapies: Standard Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Marden-Walker Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203)-746-6518 Coalition of Heritable Disorders of Connective Tissue c/o National Marfan Foundation 382 Main Street Port Washington, NY 11050 (516) 944-5412 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association For The Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4464 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1309. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1103-1104. CONGENITAL MYOPATHY WITH OCULO-FACIAL ABNORMALITIES (MARDEN-WALKER SYNDROME): N. Linder, et al.; Am J Med Genet (June, 1991, issue 39(4)). Pp. 377-9. EXPANDED SPECTRUM OF FINDINGS IN MARDEN-WALKER SYNDROME: G.P. Pineda, et al.; Am J Med Genet (August, 1990, issue 36(4)). Pp. 495-9. A 26-MONTH-OLD CHILD WITH MARDEN-WALKER SYNDROME AND PYLORIC STENOSIS: D. Gossage, et al.; Am J Med Genet (April, 1987, issue 26(4)). Pp. 915-9. Marden-Walker Syndrome "pagetitle 895: Marden-Walker Syndrome 03969.TXT 5Copyright (C) 1984, 1985, 1987, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 27: Marfan Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Marfan Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Arachnodactyly Contractural Arachnodactyly Dolichostenomelia Marfanoid Hypermobility Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Acromegaly Ehlers-Danlos Syndrome Homocystinuria Beals Syndrome Cohen Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Marfan Syndrome is an inherited disorder that effects the connective tissues of the heart and blood vessels (cardiovascular system). The musculoskeletal system (ligaments and muscles) is also affected. Major symptoms also include unusual height, large hands and feet, and involvement of the lungs and the eyes. Symptoms People with Marfan Syndrome are unusually tall and thin. Both the face and the limbs are abnormally long. Other features may include excessive joint mobility, flat feet, muscle weakness (hypotonia), a protruding or indented breast bone (sternum) and curvature of the spine (scoliosis). The teeth may be crowded because of an abnormally high palate. Stretch marks (striae) may appear on the skin. Patients with Marfan Syndrome may have significant cardiovascular problems. The most common of these is mitral valve prolapse, which is often without symptoms. Mitral valve prolapse is characterized by the incomplete closure of the heart valve and the backward flow of blood in the heart. Enlargement and degeneration of the aorta, aortic aneurysm (a bulge of the wall of the aorta), and aortic regurgitation (backward flow of blood) are also common. Untreated, these cardiac complications account for most deaths from Marfan Syndrome. About 50 percent of patients with Marfan Syndrome experience an abnormal displacement of the lens within the eyes (ectopia lentis). Another major symptom is nearsightedness (myopia). Other findings that relate to the eye may include an increased axial globe length, flatness of the cornea and occasionally retinal detachment. These conditions are diagnosed by an ophthalmologist (a physician who specializes in eye disease. Emphysema, which causes destructive changes and the loss of elasticity of the lungs, develops in almost all patients with Marfan Syndrome. A collapsed lung (pneumothorax) occurs in 5 percent of patients, either spontaneously or traumatically, and requires immediate attention. Causes Marfan Syndrome is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. The single mutation that causes this disorder has been located on chromosome 15. Penetrance is complete but expression of symptoms (clinical manifestations) may be variable. Penetrance is the regularity with which an inherited trait expresses symptoms in the person who carries the gene. The exact nature of the connective tissue abnormalities that are present in patients with Marfan Syndrome is not well understood by scientists. Affected Population Marfan Syndrome affects males and females in equal numbers. In the United States, about 25,000 to 30,000 people have Marfan Syndrome, many of whom have not been diagnosed. Early diagnosis is crucial to avoid or delay the heart complications of Marfan Syndrome. Related Disorders Symptoms of the following disorders can be similar to those of Marfan Syndrome. Comparisons may be useful for a differential diagnosis: Acromegaly is a slowly progressive disorder characterized by an excess of growth hormone (GH). An excessive amount of this hormone causes an abnormal enlargement of the bones, especially those of the arms, legs and skull. The bones of the forehead and the jaw tend to be the most affected. The jaw protrudes and there is generally an overbite that may lead to the wide separation of teeth. There is thickening of the soft tissues of the body including those of the heart. The liver, spleen and kidneys may also become enlarged as the disease progresses. (For more information on this disorder, choose "Acromegaly" as your search term in the Rare Disease Database). Ehlers-Danlos Syndrome (EDS) describes a group of inherited disorders of connective tissue. The various forms are labeled I to X and the symptoms vary according to the form of the disease, which always effects the joints and skin. Characteristic symptoms include very elastic, fragile skin and a tendency toward easy bruising and bleeding. Another major symptom is the ability to flex the joints beyond their normal range (hyperextensibility). Soft tumor-like growths may be present. Facial characteristics may be normal or the eyes may be widely spaced. (For more information on this disorder, choose "Ehlers-Danlos Syndrome" as your search term in the Rare Disease Database). Homocystinuria is a rare metabolic disorder that is characterized by an abnormal amount of homocystine and methionine in the blood, cerebrospinal fluid and the urine. The symptoms of this disorder include abnormal displacement of the lens of the eyes (ectopia lentis), cataracts, a thinning of the bones (osteoporosis), seizures, mental retardation, blood clots in the lungs (pulmonary emboli), and heart problems. Patients with Homocystinuria may have the signs and symptoms of Marfan Syndrome such as an elongated body and extremities, a depression of the breast bone, and cardiovascular defects. (For more information on this disorder, choose "Homocystinuria" as your search term in the Rare Disease Database). Beals Syndrome is a rare inherited connective tissue disorder. The major features of this disorder include long, thin, "spider-like" fingers and toes; joints that are in the bent position from birth; and deformity of the ears that causes a "crumpled" appearance. Generally the joints that are affected are the fingers, elbows, knees and ankles. There may be severe curvature of the spine (kyphoscoliosis), a forward projection of the breast bone (pectus carinatum) and a cone-like bulge of the eye that may result in blurred vision (keratoconus). (For more information on this disorder, choose "Beals Syndrome" as your search term in the Rare Disease Database). Cohen Syndrome is a rare genetic disorder characterized by multiple facial, mouth, and eye abnormalities. There is muscle weakness, obesity and mental retardation. Generally there is low birth weight, an unusually small head and prominent lips. Other characteristics of Cohen Syndrome may include narrow hands and feet with long fingers and toes and the ability to extend the joints beyond their normal range (hyperextensitivity). There may be deformities of the knees, elbow and spine as well as a slight curvature to the spine (scoliosis). (For more information on this disorder, choose "Cohen Syndrome" as your search term in the Rare Disease Database). Therapies: Standard All Marfan Syndrome patients should avoid sports, heavy lifting and any exercise that increases the strain on the aorta produced by vigorous beating of the heart. Beta-adrenergic blocking drugs such as propranolol and atenolol have proven useful in treating the cardiovascular symptoms. Both drugs help to reduce the strength and frequency of the contractions of the heart. In doing so, they may reduce the strain on the aorta. Beta-blockers generally produce few side effects and may delay, or possibly prevent the need for heart surgery. The dosage needs to be adjusted to the individual patients needs, and therapy should be closely monitored. However, surgical replacement of the aorta may eventually become necessary. In the skeletal system, scoliosis and deformity of the chest may represent a serious problem for people with Marfan Syndrome. Curvatures of the spine of more than 10 degrees should be referred to an orthopedic surgeon for correct management. Some children have been treated with hormones such as estrogen to accelerate the growth cycle and the onset of puberty. This reduces the number of years during which the spine is the most susceptible to deformity. Hormonal treatment has been most effective in females. Although medical side effects are generally minimal and adult height may be reduced by this treatment, the child must deal with the social and psychologic difficulties of becoming sexually mature before his or her peers. Deformities of the sternum in patients with Marfan Syndrome (both protruding and inverted breast deformities) may be corrected surgically. Repair of a chest deformity is best delayed until mid-adolescence at the earliest. The eyes require careful attention from early childhood. Failure to detect any of the several abnormalities that can affect the eyes may result in a dimness of vision and other visual impairment. Increased risk of retinal detachment does demand special attention. The eyes should receive special protection from injury during work or sports. Sports that may involve trauma to the head, such as football, boxing, and diving, should be avoided. Every person with Marfan Syndrome should have a yearly electrocardiogram to check the size and function of the heart and aorta. Impaired functioning of the heart valves may respond to various cardiac medications. However, surgical replacement with an artificial valve may become necessary. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Other beta-adrenergic blocking drugs are being investigated as possible therapies for the cardiovascular symptoms of Marfan Syndrome. Basic research is being conducted on the cause of Marfan Syndrome, including studies of the biochemistry of connective tissue. Scientists are also studying the nature of the genetic defect that causes this disorder. Clinical trials are underway to study all patients with a diagnosis of Marfan Syndrome who are 25 years of age or younger. Interested persons may wish to contact: Dr. Bruce S. Alpert University of Tennessee, Division of Cardiology 848 Adams Ave. Memphis, TN 38103 (901) 522-3380 to see if further patients are needed for this research. Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Marfan Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 National Marfan Foundation 382 Main Street Port Washington, New York, NY 11050 (516) 883-8712 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 696-698. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 2833-2834. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, Editor-In-Chief; Little, Brown and Co., 1987. Pp. 1361. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1122-1123. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1104-1105. MARFAN SYNDROME. WHAT YOU NEED TO KNOW, E.M. Woerner et al.; Postgrad Med (April 1990; 87(5)): Pp. 229-236. THE MARFAN SYNDROME, R.E. Pyeritz; Am Fam Physician (Dec 1986; 34(6)) Pp. 83-94. 83-94. Marfan Syndrome 6pagetitle 27: Marfan Syndrome 03970.TXT `+R+Copyright (C) 1992 National Organization for Rare Disorders, Inc. 868: Marinesco-Sjogren Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Marinesco-Sjogren Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Marinesco-Garland Syndrome Marinesco-Sjogren-Garland Syndrome Marinesco-Sjogren Syndrome-Hypergonadotropic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren Syndrome-Neuropathy Moravcsik-Marinesco-Sjogren Syndrome Myopathy-Marinesco-Sjogren Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Freidreich's Ataxia Lowe's Syndrome Telangiectasia Ataxia Cryptorchidism Peripheral Neuropathy Epilepsy Hypotrichosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Marinesco-Sjogren Syndrome is a rare disorder that is inherited through autosomal recessive genes. The major features of this disorder are a loss of muscle coordination as a result of disease in the cerebellum (cerebellar ataxia), loss of clearness in the eye's lens (cataract), increased muscle tone or tension (spasticity), and mental deficiency. Symptoms Marinesco-Sjogren Syndrome is a neuromuscular disorder causing a lack of coordination of the muscles used for voluntary movement (cerebellar ataxia). (For more information on this disorder, choose "Hereditary Ataxia" as your search term in the Rare Disease Database). Increased muscle tone or spasticity also occurs. Most patients are able to walk during childhood but will need a wheelchair as an adult. Other common features of Marinesco-Sjogren Syndrome are a disease of the eye in which the lens looses it's clearness (cataract), mental retardation, imperfect articulation of speech due to disturbance of muscle control (dysarthria), involuntary rhythmic movement of the eyes (nystagmus), and a condition in which the eyes are crossed (strabismus). Some patients with Marinesco-Sjogren Syndrome may have a small head (microcephaly), a condition in which the joint is bent and will not move due to wasting of muscle fibers (contractures), short stature and/or overproduction of hormones causing the ovaries in females and testes in males not to function properly (hypergonadotropic hypogonadism). Puberty may be delayed and skeletal deformities such as a bulging sternum, curvature of the spine (scoliosis), short bones in the arch of the foot (metatarsals) and fingers (metacarpals), outward twisting of the forearm (cubitus valgus) and a defect in the hip joint making it angle out to the side of the body (coxa valga ) may also occur. Causes Marinesco-Sjogren Syndrome is inherited as an autosomal recessive trait. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Marinesco-Sjogren Syndrome is a rare disorder that affects males and females in equal numbers. There have been approximately 100 documented cases of this disorder in the medical literature. It occurs more frequently in Italy, Scandinavia and sections of Alabama in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Marinesco-Sjogren Syndrome. Comparisons may be useful for a differential diagnosis: Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized by slow degenerative changes of the spinal chord and brain. Dysfunction of the central nervous system affects coordination of the muscles in the limbs. Speech can be affected and numbness or weakness of the arms and legs may develop. Various transitional and overlapping forms of Friedreich's Ataxia can occur. This disorder is inherited through a recessive trait, but it does not start during infancy. (For more information on this disorder choose "Friedreich's Ataxia" as your search term in the Rare Disease Database). Lowe's Syndrome is a rare inherited metabolic disorder characterized by eye abnormalities such as congenital cataracts and glaucoma, bone malformations caused by Vitamin D Resistant Rickets, mental retardation and impairment of kidney function. Symptoms of this disorder become apparent in early infancy. This disorder affects only males and is most common in those with fair coloring. The muscles may be flabby, the joints unusually flexible and there may be little or no muscle reflexes. Other symptoms may include bowed legs, underdeveloped testes, cataracts, excess fatty tissue and wide ranging weight fluctuation. (For more information on this disorder choose "Lowe's Syndrome" as your search term in the Rare Disease Database). Telangiectasia Ataxia, also known as Louis Bar Syndrome, is an inherited progressive form of cerebellar ataxia that usually begins during infancy. Symptoms of this disorder are progressive loss of coordination in the limbs, head and eyes, and lower than normal immune response against infection. Mental deficiency is not present initially, but may appear as the disorder progresses. Telangiectasia Ataxia is inherited as an autosomal recessive trait. (For more information on this disorder, choose "Ataxia, Telangiectasia" as your search term in the Rare Disease Database). The following disorders may be associated with Marinesco-Sjogren Syndrome as secondary characteristics. They are not necessary for a differential diagnosis: Hypotrichosis is a deficiency of hair. Cryptorchidism is a failure of one or both of the testes to move down into the scrotum. Peripheral Neuropathy is a syndrome characterized by sensory, motor, reflex and blood vessel symptoms. These symptoms can occur singly or in any combination. The symptoms of Peripheral Neuropathy are produced by a disease of a single nerve or several nerves in asymmetric areas of the body, or many nerves simultaneously. These symptoms may involve sensory, motor, reflex, or blood vessel function. Lesions, usually degenerative and rarely accompanied by signs of inflammation, may occur in the nerve roots or peripheral nerves. (For more information on this disorder choose "Peripheral Neuropathy" as your search term in the Rare Disease Database). Epilepsy is a central nervous system disorder that is characterized by a sudden, aimless, uncontrollable discharge of electrical energy in the brain. This discharge is sometimes preceded by a strange feeling (aura) and is characterized by a convulsion and/or loss of consciousness. The disease is not usually life threatening and those affected can lead a full and active life if medication controls their symptoms. (For more information on this disorder choose "Epilepsy" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Marinesco-Sjogren's Syndrome is symptomatic and supportive. Surgery is used to remove some types of cataracts. The lens is removed and may be replaced with an implant. Contact lenses may help improve sharpness of vision. During recent years lasers have been used increasingly to remove cataracts. Scoliosis and other orthopedic defects may be helped with surgery and/or orthopedic appliances. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational After removal of the affected lens in children with congenital cataracts an intraocular lens (IOL) has been implanted. If technically feasible, the IOL is implanted in the lens capsule. More research is needed before this implantation can be used more generally to preserve vision and reduce double vision. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Marinesco-Sjogren Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Ataxia Foundation 500 Twelve Oaks Center 15500 Wayzata Blvd. Wayzata, MN 55390 (612) 473-7666 PACK (Parents of Cataract Kids) 179 Hunters Lane Devon, PA 1933 (215) 293-1917 (215) 721-9121 Association for Retarded Citizens of the U.S. P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 (800) 433-0525 National Scoliosis Foundation, Inc. 72 Mount Auburn St. Watertown, MA 02172 (617) 926-0397 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1309. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1105-6. THE MARINESCO-SJOGREN SYNDROME EXAMINED BY COMPUTED TOMOGRAPHY, MAGNETIC RESONANCE, AND 18F-2-DEOXY-D-GLUCOSE AND POSITRON EMISSION TOMOGRAPHY: M.B. Bromberg, et al.: Arch Neurol (November 1990, issue 47(11)). Pp. 1239-42. Marinesco-Sjogren Syndromei, l,pagetitle 868: Marinesco-Sjogren Syndrome 03971.TXT @$3$Copyright (C) 1986, 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 283: Maroteaux-Lamy Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Maroteaux-Lamy Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Arylsulfatase-B Deficiency Mucopolysaccharidosis VI MPS VI Polydystrophic Dwarfism MPS Disorder General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mucopolysaccharidoses are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities. Maroteaux-Lamy Syndrome (MPS Type VI) occurs in three types: a classic severe type, an intermediate type, and a mild type. The syndrome is characterized by a deficiency in the enzyme arylsulfatase B (also called N-acetylgalactosamine-4-sulfatase), which leads to an excess of dermatan sulfate in the urine. In general, growth retardation occurs from 2-3 years of age, with coarsening of facial features and abnormalities in the bones of hands and spine. Joint stiffness also occurs. The intellect is usually normal. Symptoms Signs of Maroteaux-Lamy Syndrome usually appear between 2 and 3 years of age, the most readily detectable symptoms being coarse facial features such as thick nostrils and lips and development of a dwarf-like appearance. Bone abnormalities such as large hands with stubby fingers, stiff joints, a hunched spine, prominent chestbone, and pain in the hip bone all tend to appear after the first 3 to 4 years. Also evident at this time may be a wobbly gait, resulting from inwardly pointed knees and toes. Noisy and strained breathing, intermittent deafness and enlargement of the liver and spleen may also occur. Possible complications include blindness, progressive hearing loss and excessive fluid on the brain (hydrocephalus). (For more information, choose "hydrocephalus" as your search term in the Rare Disease Database.) Causes Maroteaux-Lamy Syndrome is an autosomal recessive inherited disorder in which a deficiency of the enzyme arylsulfatase B causes an excess of dermatan sulfate in the urine. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Maroteaux-Lamy Syndrome affects males and females equally. The incidence of this disorder is unknown. Related Disorders There are many types of Mucopolysaccharidoses. For more information about each of these disorders, choose "MPS Disorder" as your search term in the Rare Disease Database. DiFerrante syndrome (Mucopolysaccharidosis VIII) is a disorder described in a single patient with clinical and biochemical features of Morquio and Sanfilippo syndromes. The disorder had been reported to be due to a deficiency of glucosamine-6-sulfate sulfatase. Subsequently, this disorder was called MPS VIII (DiFerrante syndrome). Dr. DiFerrante later found that the enzyme was normal in his patient, and the disorder had been misdiagnosed. Therefore, Diferrante syndrome is not a valid medical disorder. The Mucolipidoses are a family of similar disorders, producing symptoms very much like those of the Mucopolysaccharidoses (MPS). I-cell disease, or Mucolipidosis Type II, resembles Hurler syndrome and the two disorders are very difficult to distinguish. I-cell disease has similar physical and mental deterioration as MPS I, but usually occurs earlier and is more severe. I-cell disease is characterized by diffused deficiency of lysosomal enzymes within the cell and is not associated with excretion of mucopolysaccharides in the urine. Pseudo-Hurler Polydystrophy (ML III) is also transmitted by autosomal recessive inheritance, but it is characterized by a deficiency of multiple lysosomal enzymes needed to break down mucopolysaccharides. This disorder can be identified by such symptoms as clawlike hands, somewhat coarse facial features, dwarfism and pain in the hands. intelligence tends to be normal in most patients, but mild mental retardation is sometimes present. Ganglioside Sialidase Deficiency (ML IV) is a disorder of unknown cause characterized by early clouding of the cornea, mild to moderate mental retardation and enlargement of liver and spleen. (For more information about the Mucolipidoses, choose "ML Disorder" as your search term in the Rare Disease database.) Therapies: Standard Treatment of Maroteaux-Lamy Syndrome is symptomatic and supportive. Hernias and joint contractures may be corrected by surgery. Physical therapy and hearing aids may benefit patients. Genetic counseling may be helpful to patient and family. Prenatal diagnosis is now possible for this disorder. Therapies: Investigational Since prenatal diagnosis is now possible through amniocentesis and sampling of a tissue layer in the embryo (chorionic villus sampling), new treatments aimed at checking early development of Maroteaux-Lamy Syndrome are now under study. One method involves replacing defective enzymes via enzyme replacement therapy and/or bone marrow transplants. Scientific study of gene replacement in animal models raises the hope that gene replacement may someday be made available to people with genetic disorders such as Maroteaux-Lamy Syndrome. Bone marrow transplantation to treat a young girl with Maroteaux-Lamy Syndrome greatly decreased the size of her enlarged liver and spleen, and improved her cardiopulmonary function, joint mobility, and visual acuity. The successful outcome of the bone marrow transplant demonstrates that toxic compounds that accumulate in the tissues can be removed and metabolized by transplanted cells. However, more research is needed before this treatment will be available for general use. Therapies: Investigational The Mayo Clinic is investigating the use of Alpha Interferon as a treatment for Maroteaux-Lamy Syndrome. For more information, physicians can contact: Morie A. Gertz, M.D. Dept. of Hematology & Internal Medicine Mayo Clinic Rochester, MN 55905 (507) 284-2511 This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Maroteaux-Lamy Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 MPS (Mucopolysaccharidoses) Research Funding Center, Inc. 1215 Maxfield Road Hartland, MI 48029 (313) 363-4412 National MPS Society 17 Kramer Street Hicksville, NY 11801 (516) 931-6338 Society of Mucopolysaccharide Diseases, Inc. 382 Parkway Blvd. Flin Flon, Manitoba, Canada R8A OK4 Society of MPS Diseases 30 Westwood Drive Little Chalfont, Bucks, England National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MPS Society Brochure. MPS Research Funding Center Bulletin. BIRTH DEFECTS COMPENDIUM, 2nd ed.; Daniel Bergsma, ed; March of Dimes, 1979. P. 733. MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A. McKusick; Johns Hopkins University Press. 1983. P. 841. Maroteaux-Lamy Syndrome CancK% N%pagetitle 283: Maroteaux-Lamy Syndrome 03972.TXT @%'%Copyright (C) 1992 National Organization for Rare Disorders, Inc. 879: Marshall Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Marshall Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Deafness-Myopia-Cataract-Saddle Nose, Marshall Type Information on the following diseases can be found in the Related Disorders section of this report: Spondyloepiphyseal Dysplasia Congenita Congenital Syphilis Stickler Syndrome Wagner Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Marshall Syndrome is a rare genetic disorder. Major symptoms may include a distinct face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss. Marshall Syndrome is inherited as an autosomal dominant trait. Symptoms Patients with Marshall Syndrome have a distinct flat sunken midface with a flattened nasal bridge (saddle nose), nostrils that turn upward, and a wide space between the eyes (hypertelorism). The domelike upper portion of the skull (calvaria) is thicker than normal and calcium deposits can be found in the skull (cranium). Eye defects found in patients with Marshall Syndrome are nearsightedness, a disease of the eye in which the lens loses it's clearness (cataract), and a wide space between the eyes making the eyeballs appear to be larger then normal. Hearing loss may be slight or severe and is due to nerve damage distorting sound (sensorineural). Other symptoms that have been found in some patients with Marshall Syndrome are: crossed eyes (esotropia), a condition in which the line of vision is higher in one eye than the other (hypertropia), retinal detachment, glaucoma, protruding upper incisors (teeth) and a smaller than normal or missing nasal bone. Causes Marshall Syndrome is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Marshall Syndrome affects males and females in equal numbers. There have been only approximately 21 cases of this disorder reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Marshall Syndrome. Comparisons may be useful for a differential diagnosis: Spondyloepiphyseal Dysplasia Congenita (SED Congenita) is a rare hereditary disorder with symptoms that can range from mild to severe. It is characterized by flat facial features, nearsightedness (myopia), retinal detachment, cleft palate, clubfoot, short-trunk dwarfism, a waddling gait and normally sized hands and feet. This disorder is inherited as an autosomal dominant trait. (For more information on this disorder, choose "Spondyloepiphyseal Dysplasia Congenita" as your search term in the Rare Disease Database). Congenital Syphilis is a chronic infectious disease caused by a spirochete (treponema pallidum) acquired by the fetus in the uterus before birth. Symptoms of this disease may not show up until several weeks or months after birth and in some cases they may take years to appear. Congenital Syphilis is passed on to the child from the mother who acquired the disease prior to or during pregnancy. Symptoms of early congenital Syphilis include fever, skin problems and low birth weight. In Late Congenital Syphilis the symptoms of the disease do not usually become apparent until two to five years of age. Symptoms of Late Congenital Syphilis may be bone pain, peg-shaped upper central incisors (teeth), blurred vision, eye pain and insensitivity to light, saddle nose, bony prominence of the forehead, short upper jaw bone and deafness. In rare cases the disease may remain latent for years with symptoms not being diagnosed until well into adulthood. (For more information on this disorder, choose "Congenital Syphilis" as your search term in the Rare Disease Database). Stickler Syndrome is a rare genetic disorder inherited as an autosomal dominant trait. This disorder is characterized by congenital abnormalities of the eye, a small jaw and a cleft palate. Degenerative changes in some joints with bone abnormalities may occur early in life. In the past some scientists felt that Marshall Syndrome and Stickler Syndrome were the same disorder. It is now thought that there are distinct differences between the two. Patients with Stickler Syndrome have flat cheekbones and a small jaw which is often described as a flat midface. Patients with Marshall Syndrome have a retracted midface with abnormal frontal sinuses and calcification in the skull. Patients with Stickler Syndrome have a cleft palate while patients with Marshall Syndrome rarely are afflicted with this condition. Deafness is rarely a part of Stickler Syndrome and is often a major part of Marshall Syndrome. (For more information on this disorder, choose "Stickler Syndrome" as your search term in the Rare Disease Database). Wagner Syndrome is a rare disorder inherited as an autosomal dominant trait. This disorder can be expressed in mild, moderate or severe form. It is characterized by facial abnormalities, an underdeveloped jaw, saddle nose, cleft palate, and vision abnormalities. Joint hyperextensibility in the fingers, elbows and knees, and hip deformities may also occur. Patients with Wagner Syndrome do not have retinal detachment as do the patients with Marshall and Stickler Syndromes. Therapies: Standard Marshall Syndrome is treated according to the specific symptoms. Plastic surgery can be performed to improve the saddle nose. Surgery is used to remove some types of cataracts. The lens is removed and may be replaced with an implant. A patch is then worn temporarily. Contact lenses may help improve sharpness of vision. Laser techniques are used to loosen either the cornea, the lens capsule, or other material when they are adhering to the lens. The use of a hearing aid may be beneficial in some cases. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational After the removal of the affected lens in children with congenital cataracts, an intraocular lens (IOL) may be implanted. If technically feasible, the IOL is implanted in the lens capsule. More research is needed before this implantation can be used more generally to preserve vision and reduce double vision. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Marshall Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (203) 746-6518 National Association for Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 615-266-1632 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Foundation for Facial Reconstruction 550 First Ave. New York, NY 11016 (212) 340-6656 American Society for Deaf Children 814 Thayer Avenue Silver Spring, MD 20814 (301) 585-5400 Voice/TTY PACK (Parents of Cataract Kids) 179 Hunters Lane Devon, PA 19333 (215) 293-1917 (215) 721-9121 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 301-496-5133 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 108-9, 480, 601. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 212. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 504-5. Marshall Syndrome resE& H&pagetitle 879: Marshall Syndrome 03973.TXT !Copyright (C) 1990 National Organization for Rare Disorders, Inc. 820: Marshall-Smith Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Marshall-Smith Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms MSS Information on the following disorders can be found in the Related Disorders section of this report: Weaver Syndrome Gigantism Sotos Syndrome McCune-Albright Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Marshall-Smith Syndrome is characterized by unusually quick physical growth and bone development (maturation), usually starting before birth. Other symptoms can include respiratory difficulties, mental retardation, and certain physical characteristics. (Note: Marshall-Smith Syndrome is not to be confused with "Marshall" Syndrome, which is very different from "Marshall-Smith" Syndrome). Symptoms In patients with Marshall-Smith Syndrome growth and bone development (maturation) occur faster than normal. The individual is underweight in relation to his or her height and does not thrive well. Other symptoms include diminished muscle tone (hypotonia), muscle weakness, hernias in the abdomen (umbilical hernias), and/or mental retardation. Slow development of voluntary movements (psychomotor retardation) may also occur. Breathing (respiratory) difficulties commonly occur in patients with Marshall-Smith Syndrome. High-pitched noisy breathing which sounds similar to the wind blowing (stridor), extension of the neck beyond normal limits (hyperextension), or the tongue obstructing the air passage may occur. Physical characteristics of Marshall-Smith Syndrome include excessive hair growth (hypertrichosis), a long head with a prominent forehead, prominent eyes, and/or an upturned nose with a low nasal bridge. The white of the eye (sclerae) may appear bluish. The angle of the lower jawbone on each side of the face as it joins in the front to form the chin (mandibular ramus) may be smaller than average. Generally, the bones of the fingertips (distal phalanges) are narrow but the rest of the bones in the fingers (proximal and middle phalanges) are broad. Infrequently, the leaf-shaped structure in the throat which normally prevents food or liquid from passing into the windpipe (epiglottis) may not develop properly in some patients with Marshall-Smith Syndrome. Absent and/or smaller than normal openings leading from the nasal passages into the post-nasal space (choanal atresia and/or stenosis), an abnormal larynx and/or soft cartilage of the larynx (laryngomalacia), a short breastbone (sternum), or a deep crease between the big toe (hallux) and second toe may occur in some patients. Occasionally, brain abnormalities such as atrophy (cerebral atrophy), larger than normal convolutions of the cerebral cortex (macrogyria), or an absent corpus collosum may occur. (For more information on absence of the corpus collosum, choose "corpus collosum" as your search term in the Rare Disease Database). Defects in the immune system (immunologic defect) are sometimes present. Although rare, some babies with Marshall-Smith Syndrome are born with a sac containing part of the intestines protruding outside the abdominal wall, with the umbilical cord attached (omphalocele). Causes The exact cause of Marshall-Smith Syndrome is unknown. There is no evidence that it is genetic. Affected Population Marshall-Smith Syndrome is a rare disorder present at birth affecting males and females in equal numbers. Symptoms of the syndrome are usually present before birth (prenatal onset). Related Disorders Weaver Syndrome is similar to Marshall-Smith Syndrome in that growth and bone maturation occur faster than normal. However, patients with Weaver Syndrome have normal to above normal weight in relation to their height whereas patients with Marshall-Smith Syndrome are underweight in relation to their height. There are other differences as well. For example, Marshall-Smith Syndrome patients have different physical characteristics, respiratory difficulties, and other symptoms that patients with Weaver Syndrome do not have. (For more information on Weaver Syndrome, choose "Weaver" as your search term in the Rare Disease Database). Gigantism occurs before puberty and is caused by oversecretion of growth hormone. It is characterized by excessive growth during childhood with relatively normal body proportions and sexual development. Height sometimes reaches 7 or 8 feet. Soft tissues are also enlarged. In extreme cases, disease of muscle tissue (myopathy) and abnormalities of nerves distant from the brain and spinal cord (peripheral neuropathy) may occur. Certain hereditary syndromes such as Klinefelter Syndrome, Marfan Syndrome, and some of the lipodystrophies, may include tallness among their symptoms. (For more information choose "gigantism, ""giant," or "peripheral neuropathy" as your search term in the Rare Disease Database). Soto's Syndrome is a rare, hereditary disorder characterized by excessive growth (over the 90th percentile) during the first 4 to 5 years of life. Abnormalities of the nervous system, including aggressiveness, irritability, clumsiness, an awkward gait, and mental retardation sometimes also occur. Physical characteristics also include eyes which appear to be abnormally far apart (hypertelorism) and slanted. (For more information, choose "Soto" as your search term in the Rare Disease Database.) McCune-Albright Syndrome (Osteitis Fibrosa Disseminata) is characterized by an early (precocious) sexual development, a change in bone integrity which produces pain, increasing deformity and disability, and possible changes in skin pigmentation. This syndrome involves the endocrine, muscle and bone systems. Excessive secretion of growth hormone as well as other hormones occurs in some cases. Children with McCune-Albright Syndrome are excessively tall during childhood, but their growth stops early and they usually don't reach normal height during adulthood. (For more information, choose "McCune-Albright" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Marshall-Smith Syndrome is symptomatic and supportive. Aggressive treatment of breathing (respiratory) difficulties is necessary. Special education and related services will be necessary during school years. Therapies: Investigational This disease entry is based upon medical information available through January 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Marshall-Smith Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 134-135. MARSHALL-SMITH SYNDROME: NEW ASPECTS. A. M. Roodhooft, et al.; Neuropediatrics (Nov 1988; issue 19 (4)). Pp. 179-182. MARSHALL-SMITH SYNDROME: TWO CASE REPORTS AND A REVIEW OF PULMONARY MANIFESTATIONS. J. P. Johnson, et al.; Pediatrics (Feb 1983; issue 71 (2)). Pp. 219-223. THE SYNDROMES OF MARSHALL AND WEAVER. N. Fitch; J Med Genet (Jun 1980; issue 17 (3)). Pp. 174-178. Marshall-Smith Syndrome "pagetitle 820: Marshall-Smith Syndrome 03974.TXT Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 441: Mastocytosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Mastocytosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Systemic Mastocytosis Systemic Mast Cell Disease DISORDER SUBDIVISIONS Mast Cell Leukemia Information on the following diseases can be found in the Related Disorders section of this report: Urticaria Pigmentosa General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Mastocytosis is a genetic disorder characterized by abnormal accumulations of specific cells (mast cells) normally found in connective tissue. The liver, spleen, lungs, bone, skin, and sometimes the membrane surrounding the brain and spine (meninges) may be affected. Cases beginning during adulthood tend to involve the inner organs more than the skin, whereas during childhood, the condition is often marked by skin manifestations with minimal organ involvement. Symptoms Mastocytosis is initially characterized by a vague feeling of discomfort or ill health, weakness, nausea, vomiting, heart beat irregularities, weight loss, and/or diarrhea. In adults, this disorder usually occurs with minimal skin involvement. When cases begin during childhood, the skin tends to be affected more than the other organs. Discolored, thickened spots which can join or run together, and dilated blood vessels may appear on the skin. Other skin manifestations may include patches associated with progressive overdevelopment of white blood cells, and chronic flat, patterned skin growths. Discoloration may be minimal in affected skin areas although light rubbing or stroking may produce redness and swelling. The mucous membranes of the mouth, nose, and rectum may be involved. The liver, spleen, and lymph nodes may become enlarged. Bones affected by Mastocytosis may become softened and deteriorate, although some new bone growth may occur with thickening of the outer portions or spongy inner areas of bones. Duodenal ulcer is a rare complication of mastocytosis and may be associated with upper abdominal pain and bleeding. Causes Mastocytosis is a genetic disorder although the exact mode of inheritance is not known. Symptoms may be caused by a an overproduction and release of histamine from connective tissue (mast) cells. These cells accumulate in various organs or in the skin. Histamine is a natural chemical produced by the body that normally causes reactions in smooth muscles and capillaries, and stimulates gastric secretions. Affected Population Mastocytosis affects males and females in equal numbers. It can begin during childhood, but most commonly affects adults. Related Disorders Symptoms of the following disorder can be similar to those of Mastocytosis. Comparison may be useful for a differential diagnosis: Urticaria Pigmentosa is a form of mast cell disease limited to the upper skin layer. A chronic eruption occurs characterized by brownish elevated spots (papules) which may be surrounded by reddened itchy skin when stroked. On the other hand, Mastocytosis is characterized by involvement of various organs with or without the skin symptoms. (For more information on this disorder, choose "Urticaria Pigmentosa" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Mastocytosis is directed at both controlling overproduction and release of mast cells, and blocking the potential effects of too much histamine. Use of a combination of antihistamine drugs such as chlorpheniramine and cimetidine, or cromolyn sodium may be helpful. In advanced stages of mast cell accumulations, surgery may be indicated to improve the functioning of affected organs. Other treatment is symptomatic and supportive. A new drug, oral cromolyn sodium (Gastrocrom R) is being used to stabilize the mast cell membrane, thereby preventing attacks from occuring as well as relieving symptoms of Mastocytosis. The manufacturers of the drug, Fisons Corporation, have in place a Patient Assistance Program, established to provide Gastrocrom R free of charge to needy patients. For more information, patients can write to: Fisons Corp., Gastrocrom Patient Assistance Program, Box 1776, Rochester, NY 14603. Physicians can call the Gastrocrom Mastocytosis Hotline at 1-800-727-6100. Therapies: Investigational Clinical trials are underway to study systemic mast cell stimulation. Interested persons may wish to contact: Dr. L. Jackson Roberts, II 514 Medical Research Bldg. Vanderbilt University Division of Clinical Pharmacology Nashville, TN 37232 (615) 322-3304 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mastocytosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. References MASTOCYTOSIS: A REVIEW: D.H. Stein; Pediatr Dermatol (November 1986, issue 3(5)). Pp. 365-375. Mastocytosis; pagetitle 441: Mastocytosis 03975.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 906: Maxillofacial Dysostosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Maxillofacial Dysostosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Hypoplasia of the Maxilla, Primary Familial Information on the following diseases can be found in the Related Disorders section of this report: Acrodysostosis Hemifacial Microsomia Nager Syndrome Treacher Collins Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Maxillofacial Dysostosis is a rare disorder inherited as an autosomal dominant trait. Major characteristics include an underdeveloped upper jaw, delayed speech as well as poor articulation, down-slanting of the eyelids, and malformations of the external ear. Symptoms The primary symptoms of Maxillofacial Dysostosis are delayed speech with poor articulation, an underdeveloped upper jaw, down-slanting of the eyelids and malformations of the external ear. Other symptoms that have been found in some patients with Maxillofacial Dysostosis are: involuntary movement of the eyes (nystagmus); crossed eyes (strabismus); an indent in the chest (pectus excavatum); incomplete or underdeveloped nipples; a flat skull in the back; and/or a beaked nose with a flat nasal bridge. Although most patients with Maxillofacial Dysostosis have normal intelligence, they are often thought to be mentally retarded due to their language problems. Their progress should be carefully monitored and educators should be informed of this potential problem. Causes Maxillofacial Dysostosis is inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Maxillofacial Dysostosis is a very rare disorder that affects males and females in equal numbers and is detectable at birth. There have been approximately twelve cases reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Maxillofacial Dysostosis. Comparisons may be useful for a differential diagnosis: Acrodysostosis is a rare disorder characterized by underdevelopment of the jaw, improper alignment of the teeth, extremely short hands and feet, a flattened nose, short stature, mental retardation, widely spaced eyes, deformity of the bones in the arms, legs and elbows, and an abnormally short broad head. (For more information on this disorder choose "Acrodysostosis" as your search term in the Rare Disease Database). Hemifacial Microsomia is a syndrome that affects one in 5,000 births. Major features of this disorder may include: underdevelopment of the lower jaw, tilting of the face to one side, deformities of the ear, facial nerve weakness, underdevelopment of the cheek and eye, abnormalities of the vertebrae and ribs, cleft lip/palate, and possibly heart and kidney abnormalities which are very rare. Nager Syndrome is a rare disorder characterized by underdevelopment of the cheek and jaw area of the face, down-sloping of the opening of the eyes, a smaller that normal jaw, lack of development of the internal and external ear with related hearing problems, absent or sparse lower eyelashes, and/or cleft palate. (For more information on this disorder choose "Nager Syndrome" as your search term in the Rare Disease Database). Treacher Collins Syndrome is a rare disorder characterized by underdevelopment of the cheek, lower jaw and jawbones, slanted eyes, notching of the lower eyelids, and a receding chin. Underdevelopment of the jaw may cause problems in the newborn with swallowing or breathing. The outer upper area of the ear may be malformed as well as the external hearing canal. The eardrum may be replaced with a bony plate. The combination of a longer than normal face with a beaklike nose, receding chin and acute deafness, are characteristic of people with Treacher Collins Syndrome. (For more information on this disorder choose "Treacher Collins" as your search term in the Rare Disease Database). Therapies: Standard The facial features in patients with Maxillofacial Dysostosis improve with age often giving a near normal appearance by adulthood. When the malformations of the face are severe, plastic surgery and orthodontic repair may be necessary. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Maxillofacial Dysostosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 1-800-535-3643 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. P. 602. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. P. 1109. Maxillofacial Dysostosis pagetitle 906: Maxillofacial Dysostosis 03976.TXT %Copyright (C) 1993 National Organization for Rare Disorders, Inc. 951: Maxillonasal Dysplasia, Binder Type _________________________ ** IMPORTANT ** It is possible that the main title of the article (Maxillonasal Dysplasia, Binder Type) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Binder Syndrome Maxillonasal Dysplasia Nasomaxillary Hypoplasia Information on the following diseases can be found in the Related Disorders section of this report: Chondrodysplasia, Punctata, Rhizomelic Type Conradi-Hunermann Syndrome Fetal Warfarin Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Binder Type Maxillonasal Dysplasia is a rare disorder that may occur for no apparent reason (sporadically) or may be inherited as an autosomal dominant or autosomal recessive genetic trait. Individuals affected with this disorder have distinct facial features that typically include a small, flat, low-set nose and a protruding chin. Crossed eyes, cleft lip and palate, as well as abnormalities of the cervical spine have also been found in some affected patients. Symptoms Binder Type Maxillonasal Dysplasia is characterized by distinct facial features that include a small, flat, low-set nose with a short underdeveloped partition separating the two nasal cavities (nasal septum). The nasal openings (apertures) may have a "half-moon" appearance and the nasal spine may be absent or underdeveloped. The upper lip may be elevated and rounded and the chin may protrude outward. Other features that have been found in some affected individuals have been crossed eyes (convergent strabismus), a cleft of the lip, upper jaw and palate (labiomaxillopalatine cleft), abnormalities of the cervical spine, protrusion of the lower jaw, and abnormal contact of the teeth of the upper and lower jaws (malocclusions). Some researchers feel that Binder Type Maxillonasal Dysplasia may be a mild form of Chondrodysplasia Punctata that is not properly diagnosed because affected individuals typically seek help at an older age, and the x-ray features of Chondrodysplasia Punctata have disappeared by then. (See related disorders section for information about Chondrodysplasia Punctata.) Causes Binder Type Maxillonasal Dysplasia may appear for no apparent reason (sporadically) or be inherited as an autosomal dominant or autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Binder Type Maxillonasal Dysplasia is a rare disorder that affects males and females in equal numbers. It is detectable at birth but may not be diagnosed until years later. There have been over one hundred cases of this disorder reported in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Binder Type Maxillonasal Dysplasia. Comparisons may be useful for a differential diagnosis: Chondrodysplasia Punctata, Rhizomelic Type, is a rare disorder inherited as an autosomal recessive genetic trait. A flattened face, vision problems, and an accumulation of calcium (calcification) in the hip and shoulder joints may also be present. Spasticity and mental retardation have also occurred in affected patients. Conradi-Hunermann Syndrome is a mild form of Chondrodysplasia Punctata that is inherited as an autosomal dominant genetic trait. Individuals affected with this disorder have distinct facial features with a flattened tip and bridge of the nose. Mild to moderate growth deficiencies typically occur as a result of calcium buildup (calcification) at the ends of the bones (epiphyses). (For more information on this disorder, choose "Conradi-Hunermann Syndrome" as your search term in the Rare Disease Database.) Fetal Warfarin Syndrome is a disorder of altered fetal development. This disorder results from a woman taking the drug warfarin (an anticoagulant) during pregnancy. Affected infants may have facial features similar to Binder Type Maxillonasal Dysplasia. The most consistent feature of this disorder is depression of the bridge of the nose resulting in an upturned, flattened appearance and a deep groove between the nostrils. Growth deficits, recurrent infections and mental retardation may also occur. Therapies: Standard Treatment of Binder Type Maxillonasal Dysplasia may consist of surgery to correct the abnormalities of the nose and jaw when the child is older. A team of orthodontists, oral and plastic surgeons may be used. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Binder Type Maxillonasal Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Craniofacial Family Association 170 Elizabeth St., Suite 650 Toronto, Ontario M5G, 1X8 Canada National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 (800) 535-3643 National Foundation for Facial Reconstruction 550 First Ave. New York, NY 11016 (212) 340-6656 (212) 340-5400 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed., Victor A. McKusick, Editor; Johns Hopkins University Press, 1990. Pp. 700-701. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1110-1111. MAXILLONASAL DYSPLASIA (BINDER'S SYNDROME): A CRITICAL REVIEW AND CASE STUDY: B.B. Horswell, et al., J Oral Maxillofac Surg (February, 1987, issue 45(2)). Pp. 114-22. MAXILLONASAL DYSPLASIA (BINDER'S SYNDROME): I.R. Munro, et al., Plast Reconstr Surg (May, 1979, issue 63(5)). Pp. 657-63. SURGICAL CORRECTION OF THE NOSE AND MIDFACE IN MAXILLONASAL DYSPLASIA (BINDER'S SYNDROME: H Holmstrom, Plast Reconstr Surg (November, 1986, issue 78(5)). Pp. 568-80. THE CRANIOFACIAL MORPHOLOGY IN PERSONS WITH MAXILLONASAL DYSPLASIA (BINDER SYNDROME). A LONGITUDINAL CEPHALOMETRIC STUDY OF ORTHODONTICALLY TREATED CHILDREN: M. Olow-Nordenram, et al., Am J Orthod Dentofacial Orthop (February, 1989, issue 95(2)). Pp. 148-58. CLINICAL AND RADIOLOGIC ASPECTS OF MAXILLONASAL DYSOSTOSIS (BINDER SYNDROME): J. Delaire, et al., Head Neck Surg (Nov-Dec, 1980, issue 3(2)). Pp. 105-22. FAMILIAL VARIANT OF MAXILLONASAL DYSPLASIA: E. Gross-Kieselstein, et al., J Craniofac Genet Dev Biol (1986, issue 6(3)). Pp. 331-4. Maxillonasal Dysplasia, Binder Type gene7& :&pagetitle 951: Maxillonasal Dysplasia, Binder Type 03977.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 160: May-Hegglin Anomaly _________________________ ** IMPORTANT ** It is possible that the main title of the article (May-Hegglin Anomaly) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Leukocytic Inclusions with Platelet Abnormality Dohle's Bodies-Myelopathy Hegglin's Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. The May-Hegglin Anomaly consists of abnormalities of the platelets (blood elements important in clotting after injuries) and certain leukocytes (white blood cells). Symptoms may or may not be present. Treatment is not always necessary, and the prognosis is usually good. This anomaly occurs most often in Greek or Italian populations. Symptoms May-Hegglin Anomaly may be detected at birth although it may remain asymptomatic. When symptoms do occur, they include purpura (a purplish or brownish red discoloration of the skin due to subcutaneous bleeding), nosebleeds, excessive bleeding from the mouth during dental work, headaches, and muscular weakness on one side of the body due to intracranial bleeding. Withdrawal of steroid therapy used to treat some other disorder may precipitate excessive bleeding. Laboratory investigations reveal giant, oddly shaped platelets and characteristic inclusions in the polymorphonuclear leukocytes (a certain kind of white blood cells involved with defense against disease). Platelets may also be mildly reduced in quantity. Causes The May-Hegglin Anomaly is a hereditary condition transmitted by an autosomal dominant gene. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Related Disorders Other disorders of platelet function include Thrombasthenia, Bernard-Soulier Syndrome, Chediak-Higashi Syndrome, the Gray Platelet Syndrome, and various defects of collagen induced platelet aggregation. Platelet disorders are also associated with congenital conditions such as Wiskott-Aldrich Syndrome, Down's Syndrome, Thrombocytopenia with Absent Radius Syndrome, and von Willebrand's Disease. Affected Population The May-Hegglin anomaly occurs primarily in families of Italian or Greek descent. Therapies: Standard No therapy is required for May-Hegglin Anomaly. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on May-Hegglin Anomaly, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung, and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1164. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1048. May-Hegglin Anomaly pagetitle 160: May-Hegglin Anomaly 03978.TXT "Copyright (C) 1987, 1989, 1992 National Organization for Rare Disorders, Inc. 395: McArdle Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (McArdle Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Glycogenosis Type V Glycogen Storage Disease Type V Myophosphorylase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Forbes Disease Pompe Disease Tarui Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. McArdle Disease is a glycogen storage disease. Symptoms of this hereditary metabolic disorder are caused by an inborn lack of the enzyme myophosphorylase. This enzyme is needed for the breakdown of glycogen (the body's form of stored energy) into sugar (glucose) in muscle tissues. In McArdle Disease the breakdown of glucose cannot take place. Severe muscle cramps occur as a result of heavy exercise. Symptoms Diagnosis of McArdle Disease usually does not occur before 10 years of age due to the relatively mild course of the disorder. Children with McArdle Disease usually develop normally. Muscles usually function normally while at rest or during moderate exercise. Only during strenuous exercise do severe muscle cramps occur, usually during late childhood or adolescence. Myoglobin (released during muscle breakdown) can often be detected in urine after strenuous exercise. In severe cases kidney failure may occur if the condition is not treated promptly. The biomedical literature suggests that an abnormality in oxygen transport to the skeletal muscles may also be present in individuals with McArdle Disease. Causes McArdle Disease is an autosomal recessive genetic disorder. It is caused by a lack of the enzyme myophosphorylase. This enzyme is needed for the breakdown of stored energy (glycogen) into sugar (glucose). The lack of sugar during strenuous exercise causes the severe muscle cramps of McArdle Disease. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population All Glycogen Storage Diseases together affect less than 1 in 40,000 persons in the United States. Females and males are affected in equal numbers. Related Disorders Glycogen Storage Diseases are caused by inborn errors of metabolism in which the balance between stored energy (glycogen) and available energy (sugar or glucose) is disturbed. Too much glycogen tends to be stored in the liver and muscles and too little sugar is available in the blood. The following diseases are similar to McArdle Disease. These can be compared to McArdle Disease for a differential diagnosis: Pompe Disease is a hereditary glycogen storage disease. This hereditary metabolic disorder is caused by a lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase). In this disorder, glycogen tends to accumulate in all body tissues, especially in the heart muscle. Forbes Disease (Glycogenosis III; Cori Disease) is another glycogen storage disease inherited through autosomal recessive genes. Symptoms are caused by a lack of a debrancher (amylo-1,6 glucosidase) enzyme. This enzyme deficiency causes excess amounts of glycogen derived from carbohydrates to be deposited in the liver, muscles, and heart. The nerves in the back of the legs and on the sides of the heel and foot (sural nerves) also tend to accumulate excess glycogen. The heart may be involved in some cases. Tarui Disease (Phosphofructokinase Deficiency) is another type of glycogen storage disease. Symptoms of this genetic metabolic disorder are caused by an inborn lack of the enzyme fructophosphokinase in muscle, and a partial deficiency of this enzyme in red blood cells. The deficiency prevents the breakdown of glucose into energy. Tarui Disease is characterized by pain and muscle cramps during muscle stress, but often to a less severe degree than in McArdle Disease. For more information on the above disorders, choose "Pompe," "Forbes," and "Tarui" as your search terms in the Rare Disease Database. Therapies: Standard Diagnosis of McArdle Disease is made from a history of painful muscle cramps during exercise, and from functional testing. Demonstration of a lack of the enzyme muscle phosphorylase (myophosphorylase) confirms the diagnosis. The functional testing consists of a muscle exercise test with blood supply reduced using a blood pressure cuff. A failure to see a rise in the blood lactate, one of the normal breakdown products of glucose in muscle, confirms the diagnosis of McArdle Disease. A muscle biopsy (withdrawal of a very small part of a live muscle through a needle), is performed and tested for myophosphorylase enzyme. Phosphorylase activity will be lacking or absent in the muscles of a patient with McArdle Disease. Treatment usually consists of the avoidance of strenuous exercise. Variable results have been obtained with oral glucose and fructose treatment. For women with McArdle Disease who need a Caesarean section during delivery, special consideration should be given to appropriate anesthesia. Therapies: Investigational Dr. Y.T. Chen at Duke University Medical Center, at the request of the Glycogen Storage Disease Association, is collecting DNA from patients with Glycogen Storage Disease Type I to form a DNA bank for GSDI. Interested patients may contact the Glycogen Storage Diseases Association for further information. The address and phone number of the organization are listed in the Resources section of this report. Clinical trials are underway to study the role of NH3 in ventilary control during exercise. Interested persons may wish to contact: David M. Systrom, M.D. Pulmonary & Critical Care Unit Massachusetts General Hospital Boston, MA 02114 (617) 726-3734 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on McArdle Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Glycogen Storage Diseases Box 896 Durant, IA 52747 (319) 785-6038 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1135. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 2078. McArdle Disease &#pagetitle 395: McArdle Disease 03979.TXT !Copyright (C) 1986, 1987, 1988, 1989, 1991, 1992 National Organization for Rare Disorders, Inc. 183: McCune-Albright Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (McCune-Albright Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Albright Syndrome Polyostotic, Fibrous Dysplasia Osteitis Fibrosa Disseminata Information on the following disease can be found in the Related Disorders section of this report: Neurofibromatosis, Type I (Von Recklinghausen Disease or Peripheral Neurofibromatosis) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. McCune-Albright Syndrome is a multi-system disorder primarily characterized by abnormal fibrous tissue development (dysplasia) in one or more bones, abnormally early puberty, and brown (cafe-au-lait) spots on the skin. Other symptoms may include an overactive thyroid gland (hyperthyroidism), other endocrine abnormalities, and a variety of bone and soft-tissue tumors. Symptoms Individuals with McCune-Albright Syndrome are affected by abnormal fibrous bone tissue growth which may be progressively painful and disabling. These lesions may affect any bone in the body, but most frequently are found in the arms, legs, pelvis, fingers or toes, as well as the ribs and the base of the skull. Susceptibility to fractures, shortening of the limbs, and other bone deformities may occur. Skin abnormalities consist of large brown (cafe-au-lait) spots which tend to have an irregular contour. These spots do not appear in every case of McCune-Albright Syndrome, thus are not necessary for a diagnosis. Early or "precocious" puberty manifests itself more often among female than among male patients. The premature onset of puberty may occur as early as three months of age. In females, the monthly menstrual period occurs followed years later by the development of breasts and growth of axillary hair. Fertility among young patients is very rare, but has been found. Fertility among adults with McCune-Albright Syndrome appears to be normal. Enlargement of the nose, jaw, fingers and toes (acromegaly) may result from an excess of growth hormone secreted by the pituitary gland and possibly excessive growth (gigantism) during childhood. However, growth may stop at an early age, leaving the patient at a shorter height than normal adults. (For more information on this disorder, choose "acromegaly" as your search term in the Rare Disease Database.) Causes The exact cause of McCune-Albright Syndrome is not known. Most cases seem to occur sporadically. Although scientists suspect the disorder may be inherited, this has not yet been proven. The early (false or pseudoprecocious) puberty in females with McCune-Albright may be linked to increased ovarian function caused by increased thyroid gland function (hyperthyroidism), hypercortisolism, excessive growth hormone and hypophaasphatemia or premature activation of the hypothalamic-pituitary-ovarian axis. Scientists believe that in many cases McCune-Albright Syndrome is caused by a mutation of the Gsx gene in early development. Affected Population McCune-Albright Syndrome can affect both sexes. Early or pseudoprecocious puberty occurs in approximately thirty percent of patients, most often among affected females. Since this disorder was first identified by Albright in 1937, hundreds of cases have been described in the American medical literature. Related Disorders Symptoms of the following disorder can be similar to those of McCune-Albright Syndrome. Comparisons may be useful for a differential diagnosis: Neurofibromatosis (NF), Type I, also known as Von Recklinghausen's Disease or Peripheral Neurofibromatosis, is characterized by multiple brown (cafe-au-lait) colored spots on the skin, nerve tumors of varying sizes under the skin, and curvature of the spine or other bones. Disturbances of puberty may also occur. This disorder is inherited as an autosomal dominant trait, whereas the exact cause of McCune-Albright Syndrome is not known. The discolorations of the skin found in Neurofibromatosis I patients are different from those found in McCune-Albright Syndrome patients. (For more information on this disorder, choose "NF" as your search term in the Rare Disease Database). Therapies: Standard Treatment of McCune-Albright Syndrome is symptomatic and supportive. In some severe cases, surgical removal of the thyroid gland may improve persistent increased thyroid function (hyperthyroidism). In other cases, physicians may try to delay puberty through use of hormones. Bone fractures and orthopedic problems are treated by orthopedists. Therapies: Investigational Experimental treatment for premature puberty in females with McCune-Albright Syndrome consists of a trial of the aromatase inhibitor testolactone, which blocks the synthesis of estrogens. More research is required before this therapy can be recommended as a safe and effective therapy for this disorder. Cortical bone grafting has been investigated as a possible treatment for fibrous bone tissue development (fibrous dysplasia), especially when a fracture has occurred. The objective of this experimental procedure is to attain pain relief, union of the fracture, and prevention of deformity. Again, more research is necessary before benefits can be adequately assessed. Investigators in the Reproductive Endocrine Unit at Massachusetts General Hospital are currently studying more about the reproductive function in teenage and adult females with McCune-Albright Syndrome. Interested females will be sent a questionnaire. Patients or parents of patients wishing to learn more about this study can contact: Dr. Lauren S. Frisch Reproductive Endocrine Unit Bartlett Hall Ext., 5th Floor Massachusetts General Hospital Fruit Street Boston, MA 02114 (617) 726-8433, ext. 337 This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on McCune-Albright syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 McCune-Albright Syndrome Division of the MAGIC Foundation 30 Beloak Ct. Baltimore, MD 21236 (301) 529-0653 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References TREATMENT OF PRECOCIOUS PUBERTY IN THE MCCUNE-ALBRIGHT SYNDROME WITH THEAROMATASE INHIBITOR TESTOLACTONE: J.D. Malley, et al.; N Eng J Med (October 30, 1986, issue 315 (18)). Pp. 1115-1119. NEUROFIBROMATOSIS AND ALBRIGHT'S SYNDROME: V.M. Riccardi; Dermatol Clin (January 1987, issue 5 (1)). Pp. 193-203. FIBROUS DYSPLASIA OF THE FEMORAL NECK. TREATMENT BY CORTICAL BONE-GRAFTING: W.F. Enneking, et al.; J Bone Joint Surg [AM] (December 1986, issue 68(9)). Pp. 1415-1422. ACTIVATING MUTATIONS OF THE STIMULATORY G PROTEIN IN THE MCCUNE-ALBRIGHT SYNDROME, Weinstein, L.S., et al.; N Eng J Med, December 12, 1991 (issue 325 (24)). Pp. 1688-1695. THE MCCUNE-ALBRIGHT SYNDROME, THE WHYS AND WHEREFORES OF ABNORMAL SIGNAL TRANSDUCTION, (editorial) Levine, Michael A., New Eng J of Med., December 12, 1991 (issue 325 (24)). Pp. 1738-1740. McCune-Albright Syndrome #pagetitle 183: McCune-Albright Syndrome 03948.TXT @3*3Copyright (C) 1986, 1986, 1987, 1989, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 238: Lyme Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Lyme Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms LD Lyme Arthritis Lyme Borreliosis Information about the following diseases can be found in the Related Disorders section of this report. Rheumatoid Arthritis Brachial Neuritis (Parsonnage-Turner Syndrome) Bell's Palsy Babesiosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lyme disease is an infectious tick-transmitted inflammatory disorder characterized by an early focal skin lesion, and subsequently a growing red area on the skin (erythema chronicum migrans or ECM). The disorder may be followed weeks later by neurological, heart or joint abnormalities. Symptoms The first symptom of Lyme disease is a skin lesion. Known as erythema chronicum migrans, or ECM, this usually begins as a red discoloration (macule) or as an elevated round spot (papule). The skin lesion usually appears on an extremity or on the trunk, especially the thigh, buttock or the under arm. This spot expands, often with central clearing, to a diameter as large as 50 cm (c. 12 in.). Approximately 25% of patients with Lyme disease report having been bitten at that site by a tiny tick 3 to 32 days before onset of ECM. The lesion may be warm to touch. Soon after onset nearly half the patients develop multiple smaller lesions without hardened centers. ECM generally lasts for a few weeks. Other types of lesions may subsequently appear during resolution. Former skin lesions may reappear faintly, sometimes before recurrent attacks of arthritis. Lesions of the mucous membranes do not occur in Lyme disease. The most common symptoms accompanying ECM, or preceding it by a few days, may include malaise, fatigue, chills, fever, headache and stiff neck. Less commonly, backache, muscle aches (myalgias), nausea, vomiting, sore throat, swollen lymph glands, and an enlarged spleen may also be present. Most symptoms are characteristically intermittent and changing, but malaise and fatigue may linger for weeks. Arthritis is present in about half of the patients with ECM, occuring within weeks to months following onset and lasting as long as 2 years. Early in the illness, migratory inflammation of many joints (polyarthritis) without joint swelling may occur. Later, longer attacks of swelling and pain in several large joints, especially the knees, typically recur for several years. The knees commonly are much more swollen than painful; they are often hot, but rarely red. Baker's cysts (a cyst in the knee) may form and rupture. Those symptoms accompanying ECM, especially malaise, fatigue and low-grade fever, may also precede or accompany recurrent attacks of arthritis. About 10% of patients develop chronic knee involvement (i.e. unremittent for 6 months or longer). Neurological abnormalities may develop in about 15% of patients with Lyme disease within weeks to months following onset of ECM, often before arthritis occurs. These abnormalities commonly last for months, and usually resolve completely. They include: 1. lymphocytic meningitis or meningoencephalitis 2. jerky involuntary movements (chorea) 3. failure of muscle coordination due to dysfunction of the cerebellum (cerebellar ataxia) 4. cranial neuritis including Bell's palsy (a form of facial paralysis) 5. motor and sensory radiculo-neuritis (symmetric weakness, pain, strange sensations in the extremities, usually occurring first in the legs) 6. injury to single nerves causing diminished nerve response (mononeuritis multiplex) 7. inflammation of the spinal cord (myelitis). Abnormalities in the heart muscle (myocardium) occur in approximately 8% of patients with Lyme disease within weeks of ECM. They may include fluctuating degrees of atrioventricular block and, less commonly, inflammation of the heart sack and heart muscle (myopericarditis) with reduced blood volume ejected from the left ventricle and an enlarged heart (cardiomegaly). When Lyme Disease is contracted during pregnancy, the fetus may or may not be adversely affected, or may contract congenital Lyme Disease. In a study of nineteen pregnant women with Lyme Disease, fourteen had normal pregnancies and normal babies. If Lyme Disease is contracted during pregnancy, possible fetal abnormalities and premature birth can occur. Causes Lyme disease is caused by a spirochete bacterium (Borrelia Burgdorferi) transmitted by a small tick called Ixodes dammini. The spirochete is probably injected into the victim's skin or bloodstream at the time of the insect bite. After an incubation period of 3 to 32 days, the organism migrates outward in the skin, is spread through the lymphatic system or is disseminated by the blood to different body organs or other skin sites. Lyme Disease was first described in 1909 in European medical journals. The first outbreak in the United States occurred in the early 1970's in Old Lyme, Connecticut. An unusually high incidence of juvenile arthritis in the area led scientists to investigate and identify the disorder. In 1981, Dr. Willy Burgdorfer identified the bacterial spirochete organism (Borrelia Burgdorferi) which causes this disorder. Some researchers believe that genetic factors may determine whether a person with Lyme Disease will be cured with antibiotics, or if they will not respond to antibiotics and consequently suffer from chronic arthritis. Their response is determined by their human leukocyte antigen (HLA) genes located on the 6th chromosome. Affected Population Lyme Disease occurs in wooded areas with populations of mice and deer which carry ticks, and can be contracted during any season of the year. Since first identified in 1975, Lyme Disease has become more common. In 1989, 7400 cases were reported. Lyme disease has spread to at least 45 states. New York accounts for at least 50 percent of the reported cases. Related Disorders Rheumatoid Arthritis is a disorder similar in appearance to Lyme disease. However, the pain in rheumatoid arthritis is usually more pronounced. Morning stiffness and symmetric joint swelling more commonly occur in rheumatoid arthritis, and knotty lumps under the skin may be present over bony prominences. Bony decalcification which can be prominent in Rheumatoid Arthritis is detected on X-rays. (For more information on Rheumatoid Arthritis, please see articles in the Prevalent Health Conditions/Concerns area of NORD Services). Brachial Neuritis, also known as Parsonnage-Turner Syndrome, is a common inflammation of a group of nerves that supply the arm, forearm, and hand (brachial plexus). It is characterized by severe neck pain in the area above the collarbone (supraclavicular) that may radiate down the arm and into the hand. There also may be weakness and numbness (hyperesthesia) of the fingers and hands. Although many cases have no apparent cause, this syndrome may occur following an immunization (tetanus or diptheria), surgery, or infection with Lyme Disease. (For more information on these disorders, choose "Parsonnage-Turner" as your search term in the Rare Disease Database. Bell's Palsy is characterized by sudden onset of facial paralysis resulting from a decreased blood supply to part of the head and compression of the facial nerve. It occurs rapidly over several hours, sometimes following exposure to cold or draft. A slight fever, pain behind the ear, a stiff neck, and unilateral facial weakness and stiffness are among the earliest symptoms. Babesiosis is an infection carried and transmitted by deer ticks. It can cause disease when the tick attaches to humans. Symptoms include a malaria-like illness, fever, lack of appetite, headache, chills, stomach pain, vomiting, and diarrhea. In most people the diseases causes mild symptoms or no symptoms at all. However, in very young children, the elderly and immunosuppressed persons the disease can be life-threatening if left untreated. (For more information on this disorder, choose "Babesiosis" as your search term in the Rare Disease Database.) Therapies: Standard For adults with Lyme disease the antibiotic tetracycline Doxycycline and minocycline is the drug of choice. Penicillin V and erythromycin have also been used. In children penicillin V is recommended rather than tetracycline. Penicillin V is now recommended for neurological abnormalities. It is not yet clear whether antibiotic treatment is helpful later in the illness when arthritis is the most predominant symptom. Treatment should be started as soon as the rash appears, even before the Enzyme Linked Immunoabsorbent Assay (ELISA) test is completed. Results of this test may be inaccurate if patients have had antibiotics soon after contracting Lyme Disease, or in those who have weakened immune systems. If Lyme Disease is contracted during pregnancy, careful monitoring by physicians is highly recommended to avoid possible fetal abnormalities and/or complications. Treatment with penicillin should begin immediately to avoid the possibility of fetal abnormalities. For tense knee joints due to increased fluid flowing in the joint spaces (effusions), the use of crutches is often helpful. Aspiration of fluid and injection of a corticosteroid may be beneficial. If the patient with Lyme disease has marked functional limitation, excision of the membrane lining the joint (synovectomy) may be performed for chronic (6 months or more despite therapy) knee effusions, but spontaneous remission can occur after more than a year of continuous knee involvement. In 1989 a new Lyme Disease antibody test, manufactured by Cambridge Biosciences Corp., was approved by the FDA. This test is being used by local laboratories throughout the nation, making tests more available to the general population. However, it is 97% specific for antibodies to Lyme disease when compared to Western blot tests, but it cannot identify the live bacteria in patients who have not yet developed the antibodies. Lyme Disease may reoccur in some patients resulting in chronic neurologic disorders such as Polyneuropathy and Encephalopathy. These after-effects are treated with antibiotics. Therapies: Investigational Researchers are trying to develop a test that will identify the Lyme disease bacteria in patients who have not yet developed the antibodies. This would enable doctors to diagnose Lyme disease very early in the course of the illness. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lyme Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Lyme Disease Foundation, Inc. P.O. Box 462 384 Merrow Rd. Tolland, CT 06084-0462 (203) 871-2900 American Lyme Disease Foundation, Inc. Royal Executive Park, 3 International Dr. Rye Brook, NY 10573 (914) 934-9155 (800) 876-LYME The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Lyme Disease Clinic Yale New Haven Hospital 333 Cedar St. New Haven, CT 06510 Lyme Disease Clinic Marshfield Clinic 1000 North Oak Ave. Marshfield, WI 54449 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1251. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1726-9. ASSOCIATION OF CHRONIC LYME ARTHRITIS WITH HLA-DR4 AND HLA-DR2, Allen C. Steere, et al.; N. Eng. J. Med, (July 26, 1990, issue 323 (4)). Pp. 219-223. CHRONIC NEUROLOGIC MANIFESTATIONS OF LYME DISEASE, Eric L. Logigian, M.D., et al.; N Eng J Med, (November 22, 1990, issue 323 (21)). Pp. 1438-1444.38-1444. Lyme Disease;4 >4pagetitle 238: Lyme Disease 03949.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 439: Lymphadenopathy, Angioimmunoblastic with Dysproteinemia _________________________ ** IMPORTANT ** It is possible the main title of the article (Angioimmunoblastic Lymphadenopathy with Dysproteinemia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms AILD Immunoblastic Lymphadenopathy Information on the following diseases can be found in the Related Disorders section of this report: Chronic Lymphadenopathy Syndrome Acquired Immune Deficiency Syndrome (AIDS) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Angioimmunoblastic Lymphadenopathy with Dysproteinemia (AILD) is a progressive immune system disorder possibly caused by viral infections, chronic stimulation of immune responses or drug treatments prescribed for other conditions. This disorder occurs mostly among persons over fifty years of age. Fever, chills, sweating, a general feeling of discomfort, weight loss, and/or skin rashes are the major symptoms. In some cases, AILD may evolve into a severe form of lymphoma (a type of cancer). Symptoms Angioimmunoblastic Lymphadenopathy with Dysproteinemia (AILD) is characterized by acute onset with fever, chills, sweating, general discomfort, weight loss, and/or skin rashes. Enlargement of the liver, spleen and lymph nodes, anemia and the presence of excessive immune system defense antibodies (gammaglobulins) in the blood may occur. Infections are common. This disorder may evolve into a severe form of lymphoma (cancer of the lymph tissue) in some cases. Causes Angioimmunoblastic Lymphadenopathy with Dysproteinemia (AILD) is thought to be caused by an over-reaction of the immune system. It may be an early stage in malignant lymphoproliferative disorders, which are cancers of the lymph tissues. Frequently, there is a history of recent drug exposure, insect bite, immunization, viral infections, or other potential immune system stimulations. Affected Population Angioimmunoblastic Lymphadenopathy with Dysproteinemia (AILD) usually affects persons over fifty years of age. Males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Angioimmunoblastic Lymphadenopathy with Dysproteinemia (AILD). Comparisons may be useful for a differential diagnosis: Dermatopathic Lymphadenopathy, also known as Lipomelanic Reticulosis, is characterized by lymph node enlargement with over-production of cells known as histiocytes and macrophages containing fat and the black pigment known as melanin. This disorder may be caused by other skin conditions, particularly those characterized by itching (pruritus) or scaly shedding (exfoliation). Acquired Immune Deficiency Syndrome (AIDS) is characterized by progressive deterioration of the body's ability to ward off infection. Organisms which in a healthy person would either fail to cause disease, cause mild disease, or at least provoke immunity, completely overwhelm the AIDS patient. Patients with severe AIDS also contract various uncommon, life-threatening infections, particularly pneumocystis carinii pneumonia, and have an unusually high incidence of a rare cancer, Kaposi's Sarcoma. Individuals in the early stages of the disease are unusually susceptible to many milder infections. (For more information on this disorder, choose "AIDS" as your search term in the Rare Disease Database and see the AIDS Update section of NORD Services). Therapies: Standard Treatment of Angioimmunoblastic Lymphadenopathy with Dysproteinemia (AILD) involves cyclophosphamides or corticosteroid drugs. These may reduce abnormally large lymph nodes and improve blood cell abnormalities. Infection must be carefully guarded against. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Angioimmunoblastic Lymphadenopathy with Dysproteinemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Immune Deficiency Foundation 3565 Ellicott Mill Drive, Unit B2 Ellicott City, MD 21043 (800) 296-4433 (410) 461-3127 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with many types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References EFFECT OF CYCLOPHOSPHAMIDE THERAPY ON ONCOGENE EXPRESSION IN ANGIOIMMUNOBLASTIC LYMPHADENOPATHY: D.M. Klinman, et al.; Lancet (November 8, 1986, issue 2(8515)). Pp. 1055-1058. ANGIOIMMUNOBLASTIC LYMPHADENOPATHY: W.P. Su; Dermatol Clin (October 1985, issue 3(4)). Pp. 759-768. MODULATION OF C-MYB TRANSCRIPTION IN AUTOIMMUNE DISEASE BY CYCLOPHOSPHAMIDE: J.D. Mountz, et al.; J Immunol (October 1985, issue 135(4)). Pp. 2417-2422. Lymphadenopathy, Angioimmunoblastic with Dyspro...nemia pagetitle 439: Lymphadenopathy, Angioimmunoblastic with Dysproteinemia 03950.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 646: Lymphangioma, Cavernous _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cavernous Lymphangioma) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Chylangioma Information on the following diseases can be found in the Related Disorders section of this report. Lymphedema, Hereditary General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cavernous Lymphangioma is a congenital disorder of the lymph vessels. It is characterized by a mass of lymphoid tissue under the skin. Lymphangioma is usually present at birth but may develop later in life as well. Symptoms Cavernous Lymphangioma is characterized by deep-seated gray, yellowish, or pink lesions on the upper extremities and/or in the neck area. These lesions may also appear on the mouth, tongue, eyelids or eyes and the lower extremities as well. They are considered benign (noncancerous), soft tumors of the lymphatic vessels. They may vary in size and shape. Lymphangiomas may produce prolonged drainage of lymphatic fluid if they are cut or punctured. Causes The exact cause of Cavernous Lymphangioma is not known. Affected Population Cavernous Lymphangioma is a disorder which is usually present at birth and seems to affect males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Cavernous Lymphangioma. Comparisons may be useful for a differential diagnosis: Hereditary Lymphedema is characterized by swelling of subcutaneous tissues. This may be due to obstruction, destruction or underdevelopment of lymph vessels and accumulation of excessive lymph fluid under the skin. This disorder causes swelling (edema) of the foot, leg or arm. Swelling is usually on one side (unilateral) and it is worse during warm weather, prior to menstrual periods, and after an extremity has been hanging downward for a prolonged period of time. There is usually no pain or discomfort. The edema causes a typical mound of swelling on the instep of the foot or the back of the hand. There are usually no skin surface changes and no evidence of obstruction of blood flow in the veins. (For more information on this disorder, choose "Lymphedema" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Cavernous Lymphangioma is usually the removal through surgery of the affected tissue and replacement of the overlying skin. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cavernous lymphangioma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Cancer Society 1599 Clifton Rd. Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) References CAVERNOUS LYMPHANGIOMA OF THE DUODENUM: CASE REPORT AND REVIEW OF THE LITERATURE. M. Davis, et al.; Gastrointest Radiol (1987, issue 12 (1)). Pp. 10-12. CAVERNOUS LYMPHANGIOMA OF THE LIP: REPORT OF A CASE. B.L. Eppley, et al.; J Am Dent Assoc (April, 1985, issue 110 (4)). Pp. 503-504. Lymphangioma, Cavernous pagetitle 646: Lymphangioma, Cavernous 03951.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 410: Lymphangiomyomatosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Lymphangiomyomatosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Pulmonary Lymphangiomyomatosis Pulmonary Lymphangiomyomatosis Syndrome Lymphangioleiomatosis Information on the following disease can be found in the Related Disorders section of this report: Tuberous Sclerosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lymphangiomyomatosis is a progressive lung disorder which primarily affects women during childbearing years. It is marked by progressive breathlessness caused by growth of abnormal spindle shaped smooth muscle cells in the lungs which can block airways. The lymph nodes, thoracic duct or liver may also be affected. Weight loss may occur despite adequate nutrition. Some cases of this disorder have been triggered by injections of hormones such as chorionic gonadotropin. Symptoms Lymphangiomyomatosis affects women exclusively. The first noticeable symptom is usually shortness of breath caused by the progressive abnormal growth of smooth muscle tissue inside the lungs. Air or excess fluid may appear inside the lining (pluera) of the lungs. Eventually, bleeding inside the lungs may occur accompanied by expectorations of blood. The abnormal growth of smooth muscle tissue may also occur in the lymphatic vessels (particularly of the intestines or liver) and in one of the main lymphatic ducts known as the thoracic duct. Chlyus is the milky fluid absorbed by intestinal lymphatic vessels during digestion which normally passes through the thoracic duct and into the veins where it mixes with the blood. When tissue grows abnormally in lymphatic vessels causing blockage or rupture, chlyus or other fluids may also accumulate in the abdominal cavity wall or chest cavity wall. Weight loss may be caused by excessive loss of fat cells through the urine which gives it a milky appearance. Pregnancy or hormone injections may make symptoms of this disorder more severe, and in some rare cases hormones have been implicated as the cause of the disorder. Very rarely, symptoms of Lymphangiomyomatosis may be limited to the lymphatic vessels in the legs. Causes The exact cause of Lymphangiomyomatosis is not known. The disorder may be caused by hormone therapies used to treat other diseases or conditions. Since this illness affects only women, it may also be inherited as a sex-linked trait or possibly people may inherit a genetic disposition to the disorder. Affected Population Lymphangiomyomatosis affects women exclusively, usually during childbearing years. Related Disorders Symptoms of the following disorder can be similar to Lymphangiomyomatosis. Comparison may be useful for a differential diagnosis: Tuberous Sclerosis is a genetic neurological disorder characterized by benign tumors of the brain, internal organs and skin lesions. Lung symptoms (abnormal growth of tissue blocking airways) are much the same as those of Lymphangiomyomatosis. However, the additional symptoms of Tuberous Sclerosis and the earlier onset of symptoms (during infancy or childhood) tend to differentiate these conditions. Tuberous Sclerosis involves additional neurological symptoms including epileptic seizures and varying degrees of mental retardation. Males or females may be affected. Tuberous Sclerosis has been found in conjunction with Lymphangiomyomatosis in a small number of cases. (For more information on this disorder, choose "Tuberous Sclerosis" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Lymphangiomyomatosis is directed at controlling symptoms. Accumulated fluid may be drained through tubes or shunts. A bronchodilator may alleviate breathing difficulties. In some cases, removal of the ovaries (oophorectomy) may result in improvement. The antiestrogen drug tamoxifen may control progression of symptoms. Surgical insertion of a tetracycline irritant (tetracycline pleurodesis) into the membrane surrounding the lungs reduces fluid accumulations. A carefully controlled diet to replace lost fat may or may not improve symptoms. In severe cases, surgical removal of tissue growth from the lungs may be helpful. Therapies: Investigational Additional investigation into the relationship of hormone therapy to the onset of Lymphangiomyomatosis is under way. Hereditary factors are also under study to help determine whether a genetic predisposition is necessary to develop this disorder. The therapeutic use of the synthetic form of the hormone progesterone (progestin) is also being researched, although a complete evaluation of safety and effectiveness as a therapy for Lymphangiomyomatosis is not yet available. This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lymphangiomatosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SUCCESSFUL TREATMENT OF PULMONARY LYMPHANGIOMYOMATOSIS WITH OOPHORECTOMY AND PROGESTERONE: D. Adamson, et al.; Am Rev Respir Dis (October 1985, issue 132(4)). Pp. 916-921. PULMONARY LYMPHANGIOMYOMATOSIS ASSOCIATED WITH TUBEROUS SCLEROSIS. TREATMENT WITH TAMOXIFEN AND TETRACYCLINE-PLEURODESIS: C.M. Luna, et al.; Chest (September 1985, issue 88(3)). Pp. 473-475. LYMPHANGIOMYOMATOSIS WITH CHYLOUS ASCITES: TREATMENT WITH DIETARY FAT RESTRICTION AND MEDIUM CHAIN TRIGLYCERIDES: P.R. Calabrese, et al.; Cancer (August 1977, issue 40(2)). Pp. 895-897. Lymphangiomyomatosis pagetitle 410: Lymphangiomyomatosis 03952.TXT Copyright (C) 1986, 1987, 1989, 1990 National Organization for Rare Disorders, Inc. 239: Lymphedema, Hereditary Types I and II _________________________ ** IMPORTANT ** It is possible that the main title of the article (Hereditary Lymphedema) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Congenital Hereditary Lymphedema (Type I) Milroy Disease (Type I) Nonne-Milroy-Meige Syndrome (Type I) Meiges Lymphedema (Type II) Lymphedema, Hereditary (Type I) Lymphedema, Hereditary (Type II) Familial Lymphedema Praecox (Type II) Disorder Subdivisions: Type I Hereditary Lymphedema Type II Hereditary Lymphedema Information on the following diseases can be found in the Related Disorders section of this report: Hereditary Angioedema Traumatic Lymphoedema General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hereditary Lymphedema is a genetic disorder of the lymphatic system. Major symptoms may include swelling of the tissue under the skin (subcutaneous) resulting from obstruction, destruction or underdevelopment of lymph vessels, and accumulation of excessive lymph fluid. Symptoms A patient with Hereditary Lymphedema has swelling (edema) of the foot, leg or an entire extremity . Swelling usually occurs on one side (unilateral) and it is worse during warm weather, prior to menstrual periods, and after an extremity has been hanging downward for a long period of time. There is usually no pain or discomfort. The edema causes a typical mound of swelling on the instep of the foot or the back of the hand. There are usually no skin surface changes and no evidence of obstruction of blood flow in the veins (venous insufficiency). Milroy's Disease or Congenital Hereditary Lymphedema (Type I), is present from birth, painless, without a tendency to form an ulcer (ulcerate) and may be associated with an obstruction in the gall bladder or stretching of the lymph vessels (lymphangiectasia) in the intestines. Meige's Disease or Hereditary Lymphedema Praecox (Type II), tends to cause particularly severe symptoms below the waist. Onset is usually in the first or second decade of life, often presenting with redness, swelling, pain, and inflammation and possibly a number of related abnormalities, including an extra row of eyelashes (distichiasis), cysts on the covering of the brain (extradural), abnormalities of the vertebrae in the spine, malformation of vessels in the brain (cerebrovascular), yellow nails or hearing loss. Several cases have been reported with an associated cleft palate. Some cases of fluid in the lungs (pleural effusion) have also been noted. (For more information on this disorder, choose "Meige" as your search term in the Rare Disease Database.) Causes Hereditary Lymphedema is inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. (In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child). Affected Population Hereditary Lymphedema usually affects females more often than males. Related Disorders Symptoms of the following disorders can be similar to those of Hereditary Lymphedema. Comparisons may be useful for a differential diagnosis: Hereditary Angioedema symptoms include swelling of parts of the skin, mucous membranes, and sometimes the internal organs due to obstruction of the lymph system. (For more information on this disorder, choose "Hereditary Angioedema" as your search term in the Rare Disease Database). Traumatic Lymphoedema is caused by injury to the lymph system such as bruising that can cause blockage of the lymph vessels. Therapies: Standard The goal in treatment of Hereditary Lymphedema is to eliminate the swelling. This is accomplished by elevation or air (pneumatic) compression of the limb, and then followed by a firm elastic support stocking to be worn from the time the patient arises until he or she retires. Occasionally, diuretics may be helpful by increasing fluid loss. Treatment of related anomalies is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hereditary Lymphedema, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Lymphedema Network 2215 Post St., Ste. 3 San Francisco, CA 94115 1-800-541-3259 National Lymphatic & Venous Diseases Foundation, Inc. P.O. Box 80 218 Monsignor O'Brien Highway Cambridge, MA 02140 (617) 784-4104 (800) 225-2292 NIH/National Heart, Lung, and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 471. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 706. PULMONARY DISEASES AND DISORDERS, 2nd Ed.: A.P. Fishman, M.D.; McGraw-Hill, 1988. Pp. 2134. FAMILIAL LYMPHEDEMA PRAECOX: MEIGE'S DISEASE., E.S. Wheeler, et. al. Plast. Reconstr. Surg. (May, 1981, issue 67(3) Pp. 362-4). Lymphedema, Hereditary Types I and II pagetitle 239: Lymphedema, Hereditary Types I and II 03953.TXT Copyright (C) 1987, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 447: Lymphocytic Infiltrate of Jessner _________________________ ** IMPORTANT ** It is possible the main title of the article (Lymphocytic Infiltrate of Jessner) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Benign Lymphocytic Infiltrate of the Skin Jessner-Kanof Lymphocytic Infiltration of the Skin Information on the following diseases can be found in the Related Disorders section of this report: Lymphocytoma Cutis Mycosis Fungoides Discoid Lupus Erythematosus Leprosy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lymphocytic Infiltrate of Jessner is a skin disorder characterized by benign accumulations of lymph cells in the skin. These small lesions are solid, pink or red in color, and appear on the face, neck, and/or back. Skin surrounding these lesions is itchy and reddened. The lesions may remain unchanged for several years and then spontaneously disappear leaving no scars. Symptoms Symptoms of Lymphocytic Infiltrate of Jessner are itchy lesions, most commonly on the upper face, eyelids, and cheeks. The back and neck may also be affected. These pink or red lesions are typically smooth with no plugging of hair follicles, and may occasionally have clear centers. The skin surrounding the lesions may be reddened and itching. Sensitivity to sunlight may occur, but is unusual. Generally the symptoms disappear after several years. Causes The exact cause of Lymphocytic Infiltrate of Jessner is not known. For unknown reasons, lymph cells abnormally accumulate in the skin. Affected Population Lymphocytic Infiltrate of Jessner affects males and females in equal numbers. The first case identified in the medical literature in the United States occurred in 1953. Related Disorders Symptoms of the following disorders can be similar to Lymphocytic Infiltrate of Jessner. Comparisons may be useful for a differential diagnosis: Lymphocytoma Cutis is characterized by a skin nodule caused by dense accumulation of lymph cells and histiocytes which are cells that are usually found in connective tissue. These lesions often form purplish, yellow-brown, glistening, spherical masses. They may be widespread or limited to a small area, and are separated from the outer layer of the skin (epidermis) by a narrow noninfiltrating layer. Mycosis Fungoides is a chronic progressive lymph disorder which initially resembles eczema or other inflammatory skin disorders. Later, tumors resembling mushrooms tend to appear on the skin. Thickened layers of skin (acanthosis) and a band-shaped infiltration of the upper skin layer by two kinds of atypical lymphoid cells occurs. In advanced cases, ulcerated tumors and cellular infiltrations of lymph nodes may occur. (For more information on this disorder, choose "Mycosis Fungoides as your search term in the Rare Disease Database.) Discoid Lupus Erythematosus is a form of Lupus Erythematosus in which only skin lesions are present. These degenerative plaques commonly appear on the face causing redness, roughness (hyperkeratosis), plugged hair follicles, and dilated blood vessels (telangiectasia). In some cases, this disorder can progress to Systemic Lupus Erythematosus. (For more information on these disorders, choose "Lupus" as your search term in the Rare Disease Database). Leprosy (Hansen's Disease) is a progressive, contagious disorder usually found in warmer climates and characterized by abnormal cell (granulomatous) formations around the nerves in the skin. It is caused by a type of airborne bacteria known as Hansen's Bacillus (Mycobacterium Leprae). (For more information on this disorder, choose "Leprosy" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Lymphocytic Infiltrate of Jessner usually consists of chloroquine or other antimalarial drugs for six weeks to three months. The lesions may also respond to small doses of superficial X-Ray. Other treatment is symptomatic and supportive. Therapies: Investigational When Lymphocytic Infiltrate of Jessner is resistant to other treatment, the experimental drug thalidomide may provide improvement. This drug should not be taken during pregnancy. Thalidomide is not approved for use in the United States. Thalidomide is available from Penn Pharmaceuticals of Tredegar, South Wales. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lymphocytic Infiltrate of Jessner, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References LYMPHOCYTIC INFILTRATION OF THE SKIN (JESSNER AND KANOF): W. Kenneth Blaylock; In Clinical Dermatology. Demis, et al.; Harper & Row, Publishers, 1982. TREATMENT OF JESSNER-KANOF DISEASE WITH THALIDOMIDE: G. Moulin, et al.; Ann Dermatol Venereol (1983, issue 110(8)). Pp. 611-614. LYMPHOCYTIC INFILTRATION OF THE SKIN (JESSNER): A T-CELL LYMPHOPROLIFERATIVE DISEASE: R. Willemze, et al.; Br J Dermatol (May 1984, issue 110(5)). Pp. 523-529. Lymphocytic Infiltrate of Jessner pagetitle 447: Lymphocytic Infiltrate of Jessner 03954.TXT Copyright (C) 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 773: Lymphoma, Gastric, Non-Hodgkins Type _________________________ ** IMPORTANT ** It is possible that the main title of the article (Gastric Lymphoma) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Stomach Lymphoma, Non-Hodgkins Type Non-Hodgkins Gastric Lymphoma Information on the following diseases can be found in the Related Disorders section of this report: Gastric Carcinoma Zollinger-Ellison Syndrome Polyposis, Familial Peutz-Jeghers Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Non-Hodgkins Type Gastric Lymphoma is a very rare form of stomach cancer. It's major symptoms may include abdominal pain, anemia and an abdominal mass. Symptoms Non-Hodgkins Type Gastric Lymphoma is a very rare form of cancer that affects, the stomach. It accounts for approximately five percent of all primary malignant tumors of the stomach, making it one of the rarest forms of stomach cancer. Patients are usually ten years younger than most patients with carcinoma of the stomach. X-rays usually show a bulky mass often associated with lesions such as a stress ulcer, hemorrhagic gastritis, or monilial gastritis. Causes There are approximately 200 different forms of cancer. The exact cause of cancer is unknown, although the immune system and in some cases genetic factors are thought to play a role in the development of certain cancers. There is no known cause of Non-Hodgkins Gastric Lymphoma. Affected Population Gastric Lymphoma affects males more often than females. It occurs at an earlier age ( about ten years earlier) than carcinoma of the stomach. It is more common in persons of Finnish, Thai and Japanese heritage, as well as people living in the mountains of Columbia, South America. Related Disorders Symptoms of the following disorder can be similar to those of Gastric Lymphoma. Comparisons may be useful for a differential diagnosis: Gastric Carcinoma is the third most common gastrointestinal cancer in the United States. Symptoms include lack of the stomach's ability to stretch (distensibility), an ulcerated mass in any portion of the stomach, enlarged gastric folds, and obstructing lesions. The disease occurs predominantly in males over fifty years of age. People with a high consumption of foods high in nitrates and salt seem to develop this type of cancer more readily than persons with diets consisting of more fresh fruits and vegetables. Zollinger-Ellison Syndrome is an unusual ulcerative condition characterized by small tumors of the pancreas, lower stomach wall, spleen or lymph nodes close to the stomach. Large amounts of gastric acid can be found in lower stomach areas where ulcers can form. Pain from these persistent ulcers may be severe. (For more information on this disorder, choose "Zollinger" as your search term in the Rare Disease Database). Familial Polyposis is a hereditary condition characterized by multiple, benign growth (polyps) which develop around puberty in the mucous lining of the gastrointestinal tract. Although the polyps themselves are initially benign, untreated patients with the disorder eventually develop cancer of the large bowel, often during their late thirties. (For more information on this disorder, choose "Polyposis" as your search term in the Rare Disease Database). Peutz-Jeghers Syndrome is characterized by the development of numerous polyps in the stomach, small intestine, and colon occuring with pigmented spots on the skin and mucous surfaces. Low grade malignancies develop in about a a fifth of the untreated patients by their early forties. (For more information on this disorder choose "Peutz-Jeghers" as your search term in the Rare Disease Database). Therapies: Standard Tests to determine whether or not a patient has Gastric Lymphoma or another form of stomach disease can be determined by x-rays, or the use of endoscopic biopsy (tissue obtained through a tube placed in the stomach), or brushing cytoloty (cells obtained by brush washing the stomach). Treatment of Gastric Lymphoma may consist of surgery, radiation therapy, multi-agent chemotherapy or a combination of chemotherapy and radiation. Surgery to resect the stomach may be necessary. The most successful current chemotherapy program is C-MOPP (cyclophosphamide, vincristine (Oncovin), procarbazine, and prednisone). Another chemotherapy in use is the CHOP (cyclophosphamide, doxorubicin, vincristine, prednisone) regimen which is used along with radiation and other drugs to treat Non-Hodgkins Gastric Lymphoma. The drug Leukine, manufactured by Immunex Corp., has received FDA approval as a treatment for Non-Hodgkin's Lymphoma. Therapies: Investigational A drug used in the investigational treatment of Hairy Cell Leukemia, 2-chlorodeoxyadenosine (2CdA) is also being tested in the treatment of other leukemias and malignant lymphomas such as Gastric Lymphoma. The orphan product Technetium Tc-99 Murine Monoclonal Antibody (IgG2a) to BCE (Immuraid-LL-2(99mTc) is being investigated for use in evaluating the extent of disease in patients with Non-Hodgkin's B-cell Lymphoma and in some forms of Leukemia. The product is sponsored by Immunomedics, Inc., 150 Mt. Bethel Rd., Warren, NJ, 07059. The orphan product Cladribine (Leustatin Injection) is being investigated for the treatment of Non-Hodgkins Lymphoma. The product is sponsored by: R.W. Johnson Research Institute Route 202, South P.O. Box 300 Raritan, NJ 08869-0602 This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Gastric Lymphoma, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute (NCI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5583 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1010-1011. RECENT RESULTS OF MULTIMODAL THERAPY OF GASTRIC LYMPHOMA. M.H. Shiu, et al.; Cancer, (October l, 1986, issue 58 (7)). Pp. 1389-1399. PRIMARY GASTRIC LYMPHOMA AND PSEUDOLYMPHOMA. S.S. Jung, et al.; Am Surg (October, 1988, issue 54 (10 )). Pp. 594-597. THE ROLE OF BRUSHING CYTOLOTY IN THE DIAGNOSIS OF GASTRIC MALIGNANCY. I.J. Cook, et al.; Acta Cytol (July-August, 1988, issue 32 (4)). Pp. 461-464. Lymphoma, Gastric, Non-Hodgkins Type3 6 pagetitle 773: Lymphoma, Gastric, Non-Hodgkins Type 03955.TXT ,Copyright (C) 1993 National Organization for Rare Disorders, Inc. 953: Lynch Syndromes _________________________ ** IMPORTANT ** It is possible that the main title of the article (Lynch Syndromes) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndromes I & II) Hereditary Nonpolyposis Colorectal Carcinoma Disorder Subdivision: Lynch Syndrome I (Hereditary Site Specific Cancer) Lynch Syndrome II (Cancer Family Syndrome) Information on the following diseases can be found in the Related Disorders section of this report: Familial Polyposis Crohn's Disease Peutz-Jegher's Syndrome Carcinoid Syndrome General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. The Lynch Syndromes are rare hereditary disorders that usually cause cancer to develop either in the colorectal area or in other sites. Primary cancers may develop in the female genital tract, stomach, brain, breasts, or urological system. The cancers of the colorectal area associated with the Lynch Syndromes usually develop at a younger age than is normally found in other persons with such cancers. Symptoms The Lynch Syndromes are characterized by rare, hereditary cancers that develop at a younger age than normal usually in the colorectal area or in close by areas such as the pancreas. Primary cancers can also develop in other areas of the body in persons of any age who have the genes that predispose a person to the development of these cancers. Rectal bleeding, diarrhea, abdominal pain, and weight loss are usually the first signs when Lynch Syndrome is present. When examined by a doctor polyps or growths in the mucous lining of the small bowel are usually present. Lynch Syndrome I is characterized by hereditary cancers that usually develop in the rectum or colon or in closely related areas such as the small bowel. Lynch Syndrome II is characterized by cancers that develop in the colorectal area or in other sites throughout the body. Often the first sign of the probable development of colorectal cancer is the growth of polyps in the colon or rectum which may be accompanied by pain or bleeding. These polyps are not associated with the growth of multiple polyps as in the disease known as Familial Polyposis (for more information on this disorder, choose "Polyposis" as your search term in the Rare Disease Database). Often the polyp is the first sign that cancer may develop later, especially if other family members have developed colon or rectal cancer. It is also an important sign if these cancers occur at a younger than normal age (colorectal cancer usually occurs after the age of sixty). In some people with this disorder cancer will develop in areas other than the colorectal area such as: the urological system, brain, stomach, breasts, or female genital tract. Causes The Lynch Syndromes are rare cancers believed to be inherited because of a autosomal dominant genetic predisposition (a genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease). Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant predispositions a single copy of the disease gene (received from either the mother or father) may be expressed "dominating" the other normal gene and if environmental conditions trigger the gene it can result in the appearance of the disease. The risk of transmitting the gene from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Some researchers believe that the location of the gene that may be responsible for these forms of hereditary cancers is located on the long arm (q) of the 18th chromosome. More study is necessary to determine if this theory is accurate. Affected Population The Lynch Syndromes affect 5 to 6% of all of the diagnosed forms of colorectal cancers involving 160,000 new cases annually in the United States. The average age of the Lynch syndrome patient is ten to twenty years younger than the average age of most colorectal cancer patients (in the sixth decade). Other forms of cancer associated with the Lynch Syndrome can occur at any age. Related Disorders Symptoms of the following disorders can be similar to those of Lynch Syndromes. Comparisons may be useful for a differential diagnosis: Familial Polyposis is a hereditary condition characterized by multiple, benign growths (polyps) that develop during puberty in the mucous lining of the gastrointestinal tract. Although the polyps themselves are initially benign, (non-cancerous) untreated patients with Familial Polyposis will eventually develop cancer of the large bowel, often during their late thirties or an earlier age. (For more information on this disorder, choose "Polyposis" as your search term in the Rare Disease Database). Crohn's Disease is a form of inflammatory bowel disease characterized by severe chronic inflammation of the wall or any part of the gastrointestinal tract. Pain, bloating, and diarrhea are often present. A solid mass may often be felt (palpated) in the abdomen. Fissures, abscesses, scarring, obstruction to varying degrees, and fistulas develop as a result of the chronic inflammation. (For more information on this disorder, choose "Crohn" as your search term in the Rare Disease Database). Peutz-Jeghers Syndrome is a hereditary condition characterized by multiple, benign growths (polyps) on the mucous lining of the intestinal wall, and dark discolorations on the skin and mucous surfaces. Low grade malignancies develop in about a fifth of the patients. (For more information on this disorder, choose "Peutz-Jeghers" as your search term in the Rare Disease Database). Carcinoid Syndrome is a rare, malignant disease affecting the small bowel, stomach and/or pancreas. Very slow growing tumors can spread (metastasize) to the liver, lungs, and ovaries. Major symptoms include diarrhea, flushing, and wheezing. (For more information on this disorder, choose "Carcinoid" as your search term in the Rare Disease Database). Therapies: Standard The Lynch Syndromes are treated by surgery to remove the colon (colectomy). Other measures that can be taken by members of a family affected by Lynch Syndrome are to begin having examinations of the colon (colonoscopy) at an early age (e.g., 25 years of age) or earlier if malignant polyps have been found; every two to three years; and tests to determine if blood is found in the stool (fecal occult blood test) should be done at this time also. Education about these rare inherited forms of cancer is important to help family members become aware of the possibilities for disease and the need for frequent medical examinations. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Investigational drugs being developed for the treatment of colorectal cancers include fluorouracil with interferon alfa-2a, which is being developed by Hoffmann-LaRoche Inc. In the treatment of colorectal cancers that have metastasized to other locations in the body other drugs are being tested including: anti-TAP immunotoxin being developed by Xoma Corporation, disaccharide tripeptide glycerol dipalmitoyl by Immuno Therapeutics, Inc., Leucovorin adjunct with fluorouracil 2,3 by Burroughs Wellcome Co., Levoleucovorin with fluorouracil by Lederle Laboratories, and trimetrexate glucuronate 2,5 by U.S. Bioscience, Inc. Further studies are also being carried out to determine the exact location of the gene that causes these inherited forms of colorectal cancers. It is hoped that a genetic test will be developed to identify people susceptible to the Lynch Syndromes, and preventive measures may be developed. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lynch Syndromes, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (203) 746-6518 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute (NCI) 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 (800) 4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, 808-524-1234 (Neighbor islands call collect). For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800)-336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 180-181, 183-184. GASTROINTESTINAL DISEASE, PATHOPHYSIOLOGY DIAGNOSIS MANAGEMENT, 4th Ed.: Marvin H. Sleisenger, W.B. Saunders Co., 1989. Pp. 1525-1528. THE MOLECULAR BASIS OF COLON CANCER., Rustgi, A.K., et al.; Annu Rev Med, 1992, (issue 43). Pp. 61-68. GENETICS OF COLON CANCER, Ahnen, D.J., West J Med, June, 1991, (issue 154 (4)). Pp. 700-705. HEREDITARY NONPOLYPOSIS COLORECTAL CANCER (LYNCH SYNDROMES I & II). GENETICS, PATHOLOGY, NATURAL HISTORY, AND CANCER CONTROL, PART I., Lynch, H.T., et al.; Cancer Genet Cytogenet, June, 1991, (issue 53 (2)). Pp. 143-160. ADENOCARCINOMA OF THE SMALL BOWEL IN LYNCH SYNDROME II., Lynch, H.T., et al.; Cancer, November 15, 1989, (issue 64 (10)). Pp. 2178-2183. THE LYNCH SYNDROME II AND UROLOGICAL MALIGNANCIES., H.T. Lynch, et al.; J Urol, January, 1990, (issue 143 (1)). Pp. 24-28. Lynch Syndromes -pagetitle 953: Lynch Syndromes 03956.TXT pagetitle 333: Macroglossia Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 333: Macroglossia _________________________ ** IMPORTANT ** It is possible the main title of the article (Macroglossia) may not be the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Giant Tongue Enlarged Tongue DISORDER SUBDIVISIONS Congenial Macroglossia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Macroglossia can be either a congenital or acquired disorder in which the tongue is disproportionately larger than other oral structures. Sometimes the tongue may protrude from the mouth. Symptoms Macroglossia is a disorder characterized by a tongue that is large in proportion to other structures in the mouth. In the congenital type of the disorder, protrusion of the tongue from the mouth may interfere with feeding of the infant. Later, talking may be affected. The large size of the tongue may also cause abnormal development of the jaw and teeth, resulting in misaligned or protruding teeth. Ulceration and dying tissue on the tip of the tongue may be other symptoms of the disorder. Causes Macroglossia may be congenital, and is often associated with syndromes such as Myxedema, cretinism, acromegaly, amyloidosis, or glycogen storage disease. Macroglossia may be a symptom of Acromegaly, Apert syndrome, Down's Syndrome, Craniofacial Dysostosis, Sturge-Weber syndrome, Hurler syndrome, Greig hypertelorism, Beckwith-Wiedemann syndrome, or mandibulofacial dysostosis. Cystic tumors of the lymph vessels (lymphangiomas) also may be a cause of Macroglossia. For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: acromegaly, amyloidosis, glycogen storage, Apert, Down, Sturge, Hurler, and Beckwith. Affected Population Congenital Macroglossia affects newborn infants. The disorder may affect males and females of all ages. Related Disorders Macroglossia may be an early sign of Acromegaly. In people who have lost their teeth (edentulous), in the absence of dentures, enlargement of the tongue may occur. In Moeller's Glossitis, the tongue is slick, glossy, or glazed. The lesions can be very distressing and persistent. Median Rhomboid Glossitis is a developmental lesion of the tongue. This lesion consists of a smooth, reddish, nodular area on the back portion of the middle third of the tongue. Hairy Tongue is characterized by yellowish, brownish, blackish or bluish discoloration of the tongue. Excessive growth of the threadlike elevations (filiform papillae) in front of the taste buds also occurs. Geographic Tongue is an inflammation of the tongue that may go into remission and recur again. This form of inflammation is characterized by smooth areas on the tongue which may feel slightly sore and sometimes itchy. Severe Acute Glossitis can be caused by local infection, burns, or injury to the tongue. This type of Glossitis may develop rapidly, producing marked tenderness or pain with swelling. In the most severe cases the swelling may be sufficient to cause the tongue to block air passages. For more information on the above disorders, choose tongue, acromegaly, hairy tongue, and geographic tongue as your search terms in the Rare Disease Database. Therapies: Standard In Congenital Macroglossia the size of the tongue may decrease with maturity, relative to other oral structures such as the teeth. In people whose Macroglossia was caused by loss of teeth, the size of the tongue may return to normal when they start wearing dentures. The tongue may be reduced in size by surgery with remodeling of the mouth and orthodontic procedures. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Macroglossia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Glycogen Storage Diseases Box 896 Durant, IA 52747 (319) 785-6038 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 Clinical Smell and Taste Research Center University of Pennsylvania Hospital 3400 Spruce Street, G1 Philadelphia, PA 19104 (215) 662-2653 Department of Oral Biology Connecticut Chemosensory Clinical Research Center University of Connecticut Health Center Farmington, CT 06032 (203) 674-2459 References MACROGLOSSIA: ETIOLOGIC CONSIDERATIONS AND MANAGEMENT TECHNIQUES: F. M. Rizer, et al.; International Journal of Pediatric Otorhinolaryngology (July 1985, issue 9,5) Pp. 189-194. SPONTANEOUS REGRESSION OF ANTERIOR OPEN BITE FOLLOWING TREATMENT OF MACROGLOSSIA: Maisels; British Journal of Plastic Surgery (October 1979, issue 32,4). Pp. 309-314. Macroglossia 03957.TXT #Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 314: Macular Degeneration _________________________ ** IMPORTANT ** It is possible the main title of the article (Macular Degeneration) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Macula Lutea, degeneration Tapetoretinal Degeneration Macular Dystrophy Foveal Dystrophy, Progressive DISORDER SUBDIVISIONS Behr 1 (infantile optic atrophyataxia) Behr 2 (adult or presenile macula lutea retinae degeneration) Stargardt's disease (juvenile macular degeneration) Macular Degeneration, senile Macular Degeneration, disciform General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Macular degeneration is a common hereditary eye (retinal) disorder with several subdivisions: Behr 1 (infantile optic atrophyataxia) Behr 2 (adult or presenile macula lutea retinae degeneration) Stargardt's disease (juvenile macular degeneration) Macular Degeneration, senile Macular Degeneration, disciform This disorder is characterized by a gradual bilateral decrease of vision. Although usually inherited as a dominant trait, a recessive type (Stargardt's disease) is a possible form of central Retinitis Pigmentosa with macular degeneration. (For more information, choose "RP" as your search term in the Rare Disease Database). Ordinary RP does not affect the macula. X-linked hereditary macular dystrophy can be observed in males with color blindness. Macular degeneration can be a static condition for many years but then becomes slowly progressive. Senile macular degeneration patients may be mislabeled as colorblind. This form of the disease could also be associated with neurological dysfunction. Symptoms Central vision is impaired or absent in macular degeneration while peripheral vision remains normal. A vision disturbance in which shapes seem distorted or changing (metamorphopsia) can occur. An area of depressed vision within the visual field surrounded by an area of normal vision (central scotoma) is also symptomatic of this disorder. The onset of Macula Lutea, degeneration (infantile type or Behr disease) is usually before the age of seven years. The juvenile type (Stargardt's) has an onset between eight and fifteen years. The adult form of Behr disease starts at about age twenty. The presenile form (Behr) begins between forty and fifty years of age, and the senile type occurs later in several forms known as atrophic chorioretinitis or exudative disciform degeneration (Junius-Kuhnt disease and Haab senile macular degeneration). Macular degeneration can remain a static condition for many years following a period of slow progression. Causes Macular degeneration is a hereditary disorder. Although usually dominant, a recessive form also exists. The X-linked hereditary trait is observed in males with color blindness. It is also possible that the macular lesions (or the predisposition to have them) are associated with failure of retinal development due to an intrauterine infection while in the womb. In senile macular degeneration, atherosclerosis could be a contributing factor to the genetic predisposition. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Related Disorders Polymorphic Macular Degeneration is a group of eye disorders that includes Sorsby disease and Best disease. This dominant hereditary form of vision disorder is marked by impairment of vision and slightly abnormal color vision. Sorsby disease usually begins between the ages of twenty and forty years and is also called macular cyst or cystoid macular degeneration. Best disease, also called vitelline macular dystrophy, is usually diagnosed between five and fifteen years of age. (For more information, choose "macular degeneration" as your search term in the Rare Disease Database.) Therapies: Standard Ongoing ophthalmic examination and treatment is indicated in macular degeneration, as well as other supportive measures. Genetic counseling for families affected by these disorders can be helpful. Therapies: Investigational Researchers at the Cullen Eye Institute of the Baylor College of Medicine in Houston, Texas are studying inherited retinal diseases including macular degeneration. Families with at least two affected members and both parents living are needed to participate in this program. Other disorders being included in the study are Leber's Congenital Amaurosis, Usher Syndrome (Types I and II), Polymorphic Macular Degeneration, Laurence-Moon-Biedl Syndrome, Rod Monochromacy (Complete Congenital Achromatopsia). Other inherited retinal disorders of interest include blue cone monochromacy (Congenital Incomplete X-linked Achromatopsia), Choroideremia, the Oculo-Cerebro-Renal Syndrome of Lowe, Hereditary X-linked cataracts, and other hereditary diseases with significant visual impact. Laser treatments may be useful in treating macular degeneration. Krypton red laser (KRL) photocoagulation seems to be more suitable than argon blue-green or argon green laser treatments, according to one study, especially in the treatment of swelling (edema) resulting from the degeneration. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Macular Degeneration, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Macular Diseases, Inc. 210 East 64th Street New York, NY 10021 (212) 605-3719 Macular Disease Research Center Eye Research Institute of Retina Foundation 20 Staniford Street Boston, MA 20114 (617) 742-3140 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Stargardt Disease Self Help Network Center for Visual Rehabilitation 219 E. Cole Ave. Wheaton, IL 60187 (708) 690-7115 National Association for the Visually Handicapped 305 East 24th Street New York, NY 10010 (212) 889-3141 Vision Foundation, Inc. 818 Mt. Auburn Street Watertown, Mass. 02172 (617) 926-4232 (800) 852-3029 (within MA) American Foundation for the Blind (AFB) 1010 Vermont Ave., NW, Suite 1100 New York, NY 10011 (202) 393-3666 References Moore, A.T.; Taylor, D.S.; Harden, A.: Bilateral macular dysplasia ('colobomata') and congenital retinal dystrophy. BR J OPHTHALMOL 1985 Sept.; 69(9): 691-9. Smiddy, W.E.; Fine, S.L.; Quigley, H.A.; Hohman, R.M.; Addicks, E.A.: Comparison of krypton and argon laser photocoagulation. Results of stimulated clinical treatment of primate retina. ARCH OPHTHALMOL 1984 July; 102(7) : 1086-92. Public Affairs Pamphlet No. 610, A VISION IMPAIRMENT OF THE LATER YEARS: MACULAR DEGENERATION; Irving R. Dickman; Distributed as a public service by the American Foundation for the Blind. Macular Degeneration#$ &$pagetitle 314: Macular Degeneration 03958.TXT Copyright (C) 1986, 1987, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 315: Macular Degeneration, Polymorphic _________________________ ** IMPORTANT ** It is possible the main title of the article (Polymorphic Macular Degeneration) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Polymorphic Macula Lutea Degeneration Vitelline Macular Dystrophy, also known as Best Disease Cystoid Macular Degeneration, also known as Macular Cysts, or Sorsby Disease Hereditary hemorrhagic Macular Dystrophy Coloboma of Macula Sorsby Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polymorphic Macular degeneration is a dominant hereditary vision disorder which includes Best Disease and Sorsby Disease. Best disease is also called vitelline macular dystrophy. The disorder affects both eyes and is usually diagnosed between five and fifteen years of age. Sorsby disease is also called macular cyst, or cystoid macular degeneration. Symptoms usually begin between twenty and forty years of age. This form of the disorder is marked by impairment of vision, possible color vision abnormality, and can be progressive in nature. Symptoms Polymorphic macular degeneration usually affects the macular region in both eyes. In Sorsby disease, swelling (edema), hemorrhage, exudate and cyst formation are noted. The cysts may vary in size and appearance. The cystic manifestations of the disorder may also appear in other family members. In advanced stages considerable atrophy may be observed. The initial cystic lesion may be overlooked during eye examination because the cyst may be hidden by an overlying or surrounding layer of retinal pigment cells. These cells, in the center of the macula, eventually atrophy. After bursting, the anterior wall of these cysts may become absorbed or covered by pigmentation. In Best disease, changes in the macular region as well as other areas of the eye may be noted before visual impairment occurs. The macular area may show a yellow mass resembling the yolk of an egg. This vitelline lesion may possibly be present at birth. Deep irregular pigmentation inside the eye may develop later. Causes Polymorphic macular degeneration is inherited as a dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) The gene for Best Disease has been mapped on chromosome 11. Affected Population Polymorphic macular degeneration may affect several members of the same family. Sorsby disease may begin between the ages of twenty and forty. The onset of Best disease is usually between the ages of five and fifteen years. Both conditions are rare. Related Disorders Macular degeneration (macula lutea degeneration) is a similar hereditary vision disorder involving both dominant and recessive inheritance patterns. Several subgroups are included in this variant group, including Behr 1 and 2, Stargardt's, disciform macular degeneration, and senile macular dystrophy. (For more information, choose "macular degeneration" as your search term in the Rare Disease Database). Therapies: Standard Ongoing ophthalmic examination and treatment is indicated in macular degeneration, as well as other supportive measures. Genetic counseling for families affected by these disorders can be helpful. Therapies: Investigational Researchers at the Cullen Eye Institute of the Baylor College of Medicine in Houston, Texas are studying inherited retinal diseases including Polymorphic Macular Degeneration. Families with at least two affected members and both parents living are needed to participate in this program. Other disorders being included in the study are Leber's Congenital Amaurosis, Usher Syndrome (Types I and II), Macular Degeneration, Laurence-Moon-Biedl Syndrome, Rod Monochromacy (Complete Congenital Achromatopsia). Other inherited retinal disorders of interest include blue cone monochromacy (Congenital Incomplete X-linked Achromatopsia), Choroideremia, the Oculo-Cerebro-Renal Syndrome of Lowe, Hereditary X-linked cataracts, and other hereditary diseases with significant visual impact. Laser treatments may be useful in treating macular degeneration. Krypton red laser (KRL) photocoagulation seems to be more suitable than argon blue-green or argon green laser treatments, according to one study, especially in the treatment of swelling (edema) resulting from the degeneration. Scientists at the University of Iowa have determined that the gene that results in Polymorphic Macular Degeneration (also known as Best's Disease) is located on chromosome 11. The researchers are hoping that this information will lead to the discovery of the exact gene that causes this disorder. This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polymorphic Macular Degeneration, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Macular Diseases, Inc. 210 East 64th Street New York, NY 10021 (212) 605-3719 Macular Disease Research Center Eye Research Institute of Retina Foundation 20 Staniford Street Boston, MA 20114 (617) 742-3140 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 National Association for the Visually Handicapped 305 East 24th Street New York, NY 10010 (212) 889-3141 Vision Foundation, Inc. 818 Mt. Auburn St. Watertown, Mass. 02172 (617) 926-4232 (800) 852-3029 (within Mass.) American Foundation for the Blind (AFB) 1010 Vermont Ave., NW, Suite 1100 New York, NY 10011 (202) 393-3666 References Moore, A.T., Taylor, D.S., Harden, A. : Bilateral Macular Dysplasia ('colobomata') and Congenital Retinal Dystrophy. BR J OPHTHALMOL, Sept. 1985; 69(9):691-9. Smiddy, W.E., Fine, S.L., Quigley, H.A., Hohman, R.M., Addicks, E.A.: Comparison of Krypton and Argon Laser Photocoagulation: Results of Stimulated Clinical Treatment of Primate Retina. ARCH OPHTHALMOL, July 1984; 102(7):1086-92. Public Affairs Pamphlet No. 610; A VISION IMPAIRMENT OF THE LATER YEARS: MACULAR DEGENERATION; Irving R. Dickman; Distributed as a public service by the American Foundation for the Blind. Macular Degeneration, Polymorphic pagetitle 315: Macular Degeneration, Polymorphic 03959.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 778: Madelung's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Madelung's Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Benign Symmetrical Lipomatosis Launois-Bensaude Multiple Symmetric Lipomatosis MSL General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Madelung's Disease is a disorder of fat metabolism (lipid storage) that results in an unusual accumulation of fat deposits around the neck and shoulder areas. Adult alcoholic males are most often affected, although women and those who do not drink alcohol can also get Madelung's disease. Symptoms Madelung's Disease is characterized by massive deposits of fat predominantly around the head and neck and sometimes in the upper trunk. It is often associated with excessive use of alcohol. There may also be glucose (sugar) intolerance, liver disease and malignant tumors of the lungs. Causes The exact cause of Madelung's Disease is not known. The body's inability to properly metabolize fat indicates that it may be an endocrine disorder. Some scientists believe a predisposition to the disorder may be inherited. However, the mode of transmission has not been determined. Affected Population Madelung's Disease most frequently affects middle aged males. The condition is most common in those who abuse alcohol. However, this disease is also found in women and persons who do not consume alcohol. It is seen more often in Europe than in America. Related Disorders Information on other Lipid Storage and endocrine disorders can be found by typing the word "Lipid" or "Endocrine" as your search term in the Rare Disease Database. Therapies: Standard Treatment of Madelung's Disease consists of surgical removal of the fatty deposits from the areas around the head, neck, shoulders and trunk. Liposuction has been used successfully to remove single fatty tumors. Ultrasound is a helpful tool in the diagnosis of Madelung's Disease. Therapies: Investigational This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Endocrine Society 9650 Rockville Pike Bethesda, MD 20205 301-530-9660 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 References THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Scriver, Beaudet, Sly and Valle, eds.; McGraw Hill, 1989. Pp. 1129-1266. MULTIPLE FAMILIAL ANGIOLIPOMATOSIS; TREATMENT OF LIPOSUCTION. W. R. Kanter, et al.; Ann Plast Surg, (March, 1988, issue 20 (3)). Pp. 277-279. MADELUNG'S LIPOMATOSIS OF THE NECK--A SONOGRAPHIC DIAGNOSIS, M. Drockur, et al.; HNO (March, 1989, issue 37 (3)). Pp. 117-119. MADELUNG'S LIPOMATOSIS OF THE NECK--EXPRESSION OF AN ALCOHOL-INDUCED ENDOCRINE DISORDER. D. Knovver, et al.; HNO (November, 1986, issue 34 (11)). Pp. 474-476. MADELUNG'S DISEASE (BENIGN SYMMETRIC LIPOMATOSIS). N.A. Plotnicov, et al.; Oral Surg Oral Med Oral Pathol, (August, 1988, issue 66 (2)). Pp. 171-175. Madelung's Disease pagetitle 778: Madelung's Disease 03960.TXT #Copyright (C) 1988, 1990 National Organization for Rare Disorders, Inc. 433: Maffucci Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Maffucci Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Multiple Angiomas and Endochondromas Dyschondrodysplasia with Hemangiomas Enchondromatosis with Multiple Cavernous Hemangiomas Kast Syndrome Hemangiomatosis Chondrodystrophica Information on the following diseases can be found in the Related Disorders section of this report: Ollier Disease Klippel-Trenaunay-Weber Syndrome Blue Rubber Bleb Nevus Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Maffucci Syndrome is a rare congenital disorder characterized by multiple benign skin and bone lesions which in some cases, may be progressive. The lesions appear at birth or shortly thereafter, but may not become evident for several years. Symptoms Maffucci Syndrome is marked by benign growths on the skin, cartilage and/or bones. Twenty-five percent of patients exhibit lesions during the first year of life while seventy-eight percent experience symptoms before puberty. Some of the more commonly associated vascular lesions are: 1) Large growths containing blood-filled spaces due to dilation and thickening of the walls of the capillary loops (cavernous hemangiomas) 2) Small thick masses of capillaries (capillary hemangiomas) 3) Dilation of the veins (phlebectasia) Growths of dilated lymph vessels (lymphangiomas) and Blue Rubber Bleb Nevus Syndrome may also occur in conjunction with this disorder. Calcium deposits in veins (phleboliths) are usually found within vascular lesions and may be seen on radiographs. The location of the sites of skin lesions does not necessarily correspond with bone lesions. There may also be lesions of the esophagus, third portion of the small intestine (ileum), and anal mucous membranes. Lesions in the mucous membranes of the mouth and throat (oral mucosa) are common. These lesions often persist. The long bones are affected by abnormal growth of cartilage in the midsection (dyschondroplasia) due to a defect in the bone hardening process (endochondral ossification). During early childhood, cartilaginous tumors (endochondromas) may develop in the small bones of the hands and feet, as well. Skin lesions are firm, fixed, easily palpable nodules that occur on only one side of the body in approximately forty-eight percent of patients. They do not correspond in size if they occur on both sides of the body. Patients are usually short in stature, with thirty-six percent showing significant discrepancies between the length of both legs, often causing curvature of the spine (scoliosis). The bones tend to fracture easily. Occasionally, the internal lesions may ulcerate causing pain from pressure on nerves and blood vessels. Twenty-five to thirty percent of patients with Maffucci's Syndrome develop associated malignancies especially chondrosarcomas. These malignancies develop from bone and soft-tissue lesions. Other malignant connective tissue neoplasms including fibrosarcomas, angiosarcomas, lymphangiosarcomas, interstitial tissue cell tumors (gliomas), embryonic tissue cell (mesenchymal) ovarian tumors, and pancreatic adenocarcinomas have also been described. Causes The exact cause of Maffucci Syndrome is not known, although it is thought to be inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Maffucci Syndrome is a very rare disorder affecting males and females in equal numbers. Less than 105 cases have been documented in the medical literature in the United States since this disorder was first identified in 1881. Related Disorders Symptoms of the following disorders can be similar to those of Maffucci Syndrome. Comparisons may be useful for a differential diagnosis: Ollier Disease is a rare abnormal development of the bones (skeletal dysplasia) usually beginning in childhood. The disease affects bones and cartilage in joints of the arms and legs. Dwarfism can occur when both sides of the body are affected. Pain usually occurs only when bones fracture. (For more information on this disorder, choose "Ollier" as your search term in the Rare Disease Database). Klippel-Trenaunay-Weber Syndrome is a blood vessel disorder combining Nevus Flammeus (a birth mark that is the color of a Port Wine Stain), excessive growth of soft tissue and bone, and varicose veins. Cases range from mild to severe with a variety of complications possible. Onset usually occurs before birth or during early childhood. (For more information on this disorder, choose "Klippel Syndrome" as your search term in the Rare Disease Database). Blue Rubber Bleb Nevus Syndrome is a genetic blood vessel disorder characterized by benign growths in the skin and gastrointestinal tract that are present at birth. The growths in the skin are usually elevated, blue or purplish-red in color, and contain thin-walled sacs that are easily compressed. Other skin lesions may be large, disfiguring, and irregular in size with blue spots (macules), or black dots that merge with normal skin. Additional lesions may develop with age. Therapies: Standard Maffucci Syndrome should be treated on an individual basis due to the wide variety of possible symptoms. The discrepancies in leg length, curvature of the spine (scoliosis), and bone deformities may improve with orthopedic treatment or surgery. Reconstructive surgery may remove or reduce the size of large hemangiomas or lymphangiomas. The malignant neoplasms may be treated by surgery, radiation, chemotherapy, or a combination of these therapies. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Maffucci Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with many types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ENCHONDROMATOSIS WITH HEMANGIOMAS (MAFFUCCI'S SYNDROME): E. Gutman, et al.; South Med J (April 1978, issue 71(4)). Pp. 466-467. CHONDROSARCOMA IN MAFFUCCI'S SYNDROME: T.C. Sun, et al.; J Bone Joint Surg [Am] October 1985, issue 67(8)). Pp. 1214-1219. ANGIOSARCOMA ARISING IN A PATIENT WITH MAFFUCCI SYNDROME: T.I. Davidson, et al.; Eur J Surg Oncol (December 1985, issue 11(4)). Pp. 381-384. Maffucci Syndrome $pagetitle 433: Maffucci Syndrome 03961.TXT 3Copyright (C) 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 434: Malaria _________________________ ** IMPORTANT ** It is possible the main title of the article (Malaria) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Acute Malaria Ague Chronic Malaria Jungle Fever Swamp Fever Paludism Autochthonous Malaria Imported Malaria Induced Malaria Relapsing Malaria Therapeutic Malaria Cerebral Malaria DISORDER SUBDIVISIONS Plasmodium Falciparum Malaria (Falciparum Fever, Malignant Tertian Fever, Malignant Tertian Malaria, Algid Malaria, Gastric Algid Malaria, Dysenteric Algid Malaria, Bilious Remittent Malaria, Cerebral Malaria, Malaria Comatosa, Aesthetivoautumnal Fever, Pernicious Malaria, Remittent Malaria ) Plasmodium Malariae Malaria (Quartan Malaria, Quartan Fever) Plasmodium Ovale Malaria (Ovale Tertian Malaria) Plasmodium Vivax Malaria (Tertian Malaria, Benign Tertian Malaria, Tertian or Vivax Fever) Quotidian Malaria (Quotidian Fever, Double Tertian Malaria) Intermittent Malaria (Tertian or Quartan Malaria) Nonan Malaria (Occurrences every nine days) Blackwater Fever (Hemorrhagic Malaria) Information on the following diseases can be found in the Related Disorders section of this report: Babesiosis Toxoplasmosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Malaria is a communicable parasitic disorder spread through the bite of the Anopheles mosquito. Major symptoms may vary depending on which species of parasite causes the infection and the stage of development of the parasite. Chills and fever commonly occur, although not every case follows the same pattern. Each recurrence becomes milder. Although the disorder was once thought to be under control throughout the world, Malaria is a wide spread infection especially in the tropics where certain types of mosquitos are becoming resistant to pesticides. The annual number of cases reported in the United States has increased in recent years. Symptoms Symptoms of Malaria vary depending on which of the four parasite species is the cause. Severity of symptoms may differ as the parasite goes through three different stages of development in humans. It is possible to contract more than one kind of Malaria at a time. Symptoms may begin a week after exposure to the mosquito or it may show up months later, even with preventive treatment. An incubation period ranging from nine to forty days is usually followed by a feeling of listlessness, loss of appetite, headaches, muscle aches, low fever, and other flu-like symptoms. Then onset of rigidity or spasms usually lasting twenty to thirty minutes may occur. Following this, teeth rattling chills and fever (possibly reaching 107 degrees F.) may last from three to eight hours. Profuse sweating and a feeling of exhaustion mark the end of the feverish stage. Cold sores may appear on the lips or nose, skin may be pale, slightly bluish, or dry and flushed in appearance. An increased heart rate may be associated with heavy breathing. The spleen may become enlarged. Bloody diarrhea rarely may occur. If the brain is involved, headaches or depression may develop. Anemia, marked weight loss, mild yellowish discoloration of the skin (jaundice), swelling of the ankles, digestive difficulties, and muscle weakness can occur. Until drugs are administered, symptoms such as diarrhea, vomiting or nausea may recur. Between episodes of these symptoms, patients may feel well except for tiredness. Without treatment, symptoms often redevelop months or even years later. Although subsequent attacks are often milder due to built-up immunity, the infection can last from one to twenty years. With treatment, patients usually recover and live a normal life span. Cerebral Malaria is a form of Malaria which occurs when the immune system produces a certain protein called "Tumor Necrosis Factor" (TNF) or "cachectin." This complication develops in less than one percent of cases and is often fatal in third world countries. Causes Malaria is most commonly transmitted through the bite of the female Anopheles mosquito which is infected by a malaria parasite (Plasmodium). Plasmodium Falciparum, Plasmodium Ovale, Plasmodium Malariae and Plasmodium Vivax are the four species of the parasite which can affect humans. Additionally, transfusion of blood from an infected donor, or sharing contaminated needles may transmit the infection from one person to another. In very rare cases, the disorder has been transmitted from an infected mother to a fetus. Affected Population According to the Centers for Disease Control (CDC) in Atlanta, GA, Malaria is uncommon in the United States where less than 1,100 cases are diagnosed each year, usually having been contracted abroad. The World Health Organization (WHO) estimates Malaria to be one of the world's major health problems, with at least 100 million new cases reported annually, resulting in more than 1 million deaths. Cerebral complications account for more than half of all Malaria deaths even though this condition develops in less than one percent of cases. Related Disorders Symptoms of the following disorders can be similar to those of Malaria. Comparisons may be useful for a differential diagnosis: Babesiosis is a communicable parasitic infection of animals which on rare occasions may occur in humans. The parasites are transmitted by tick bites and cause premature destruction of red blood cells (hemolytic anemia). Babesiosis may be fatal in people who have had their spleens removed. In other individuals, the disorder usually resolves spontaneously. Initial symptoms may include abdominal pain, headache, chills and fever, lack of appetite, vomiting, and diarrhea. Most cases in the United States seem to have been contracted on islands off the coast of New York and Massachusetts. (For more information on this disorder, choose "Babesiosis" as your search term in the Rare Disease Database). Toxoplasmosis is an infectious disorder that is caused by a parasite (Toxoplasma Gondii). This infection is found worldwide and may be either acquired or transmitted to a fetus from an infected mother. When the disorder is acquired, cases may either resemble mononucleosis or involve lesions of the lungs, liver, heart, skin, muscle, brain, and spinal cord membranes. Lesions are often accompanied by inflammation and in some cases, hepatitis. Acute cases are often characterized by rash, high fever, chills, and prostration. The prognosis for the acquired forms of Toxoplasmosis (of moderate severity) is usually good with treatment and complications are uncommon. However, without treatment this disorder may persist for many months. It is rarely fatal in adults. (For more information on this disorder, choose "Toxoplasmosis" as your search term in the Rare Disease Database). Therapies: Standard Prevention is the most effective means of controlling Malaria. Americans traveling to third world countries where the disease is rampant are advised to begin Chloroquine drug therapy at least two weeks before traveling to areas at risk. These areas include Africa, areas of South and Central America, the Indian subcontinent, Southeast Asia, and areas of Oceania (Papua, New Guinea or Irian Java, the Solomon Islands and Vanuatu). This drug should continue to be taken during travel and for six weeks thereafter. The drug not only helps prevent malaria, but can suppress and eliminate the disease in those who have already been infected by the parasite. Where parasites are known to be resistant to Chloroquine such as Africa, parts of Southeast Asia, and some South Pacific Islands, the drug Fansidar may be used, although some people may have severe reactions to it. This drug must be discontinued if itching, rash, sore throat, or lesions in the mouth or genital areas appear. Quinine or tetracycline drugs can be substituted. The drug Primaquine may be effective if parasites persist in the liver after other drug treatments have been used. Rural areas carry a higher risk for Malaria than cities. Travelers should remain in well screened areas, especially at night when mosquitos usually feed. Clothes should cover most of the body and mosquito netting should be used around the bed. A good insect repellent such as DEET should be used on any exposed area of the skin, and living and sleeping areas should be sprayed with a flying-insect spray containing pyrethrum. Health information for travelers is available from the Centers for Disease Control (CDC) in Atlanta, GA at (404) 329-2572 or from state and local health departments. The publication, "Health Information for International Travel" is available from the Superintendent of Documents, U.S. Government Printing Office, Washington, DC 20402, or (202) 783-3238. The orphan drug Larium has received FDA approval as standard therapy in the prevention and treatment of mild to moderate Malaria. It is manufactured by Hoffman LaRoche, 340 Kingsland St., Nutley, NJ 07110. Therapies: Investigational Experimental treatment for a potentially fatal form of Malaria known as Cerebral Malaria involves blocking the reaction of the immune system protein which causes it. Research on special agents to block this reactive protein known as "tumor necrosis factor" (TNF) or "cachectin" are being studied to determine safety and effectiveness. During the past ten years the number of cases of Malaria in the United States caused by the Plasmodium Falciparum parasite increased tenfold, mostly due to Americans traveling to areas of endemic malaria such as Africa and Thailand. This type of Malaria has typically been treated with intravenous quinine dihydrochloride available only from the Centers for Disease Control (CDC). In an effort to avoid delays in treatment of malaria patients, a new treatment of continuous fusion of intravenous quinidine gluconate has been developed. Preliminary reports indicate that this treatment appears effective. More research is needed to determine the long term safety and effectiveness of this treatment. The drug mefloquine is being investigated as a possible treatment for Malaria associated with the Plasmodium Falciparum parasite. The Food and Drug Administration (FDA) has awarded a research grant to A.G. Mephra, Switzerland, for studies on mefloquine HCT (Mephaquin) as a treatment/vaccination for chloroquine-resistant falciparum malaria. In a few cases, the drug Amodiaquine was investigated for therapeutic value, but was found to be less effective than the drug Chloroquine. These drugs are still under study to analyze side effects and effectiveness. More research is needed before they can be recommended for use in all but the most severe cases of Malaria. For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. Smith-Kline Beecham Pharmaceutical, P.O. Box 1510, King of Prussia, PA, 19406, is sponsoring a new orphan drug, Halofantrine, for the treatment of Malaria caused by strains of P. Falciparum and P. Vivax. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Malaria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 World Health Organization 525 23rd Street Northwest Washington, DC 20037 (202) 861-3200 (202) 861-3305 (Library) References TRAVELERS' ADVISORY: MALARIA STILL THREATENS MUCH OF THE GLOBE: Evelyn Zamula; FDA Consumer (May 1987). Pp. 8-13. AN ULTRASTRUCTURAL STUDY OF THE EFFECTS OF MEFLOQUINE ON MALARIA PARASITES: G.H. Jacobs, et al.; Am J Trop Med Hyg (January 1987, issue 36(1)). Pp. 9-14. AMODIAQUINE LESS EFFECTIVE THAN CHLOROQUINE IN THE TREATMENT OF FALCIPARUM MALARIA IN THE PHILIPPINES: G. Watt, et al.; Am J Trop Med Hyg (January 1987, issue 36(1)). Pp. 3-8. Malaria 4pagetitle 434: Malaria 03962.TXT $Copyright (C) 1984, 1988, 1989, 1990, 1992 National Organization for Rare Disorders, Inc. 8: Malignant Hyperthermia _________________________ ** IMPORTANT ** It is possible the main title of the article (Malignant Hyperthermia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Fulminating Hyperpyrexia Hyperthermia of Anesthesia Malignant Fever Malignant Hyperpyrexia MH Pharmacogenic Myopathy Information on the following disease can be found in the Related Disorders section of this report: Neuroleptic Malignant Syndrome Noonan Syndrome King Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Malignant Hyperthermia is hereditary disorder in which a person does not react appropriately to certain drugs due to a genetic abnormality. The patient develops a rapid, high fever after the administration of general anesthesia or certain muscle relaxants. Drugs that could cause this respond include halothane, cyclopropane, or succinylcholine. Symptoms Malignant Hyperthermia occurs in patients who may have been previously unaffected by anesthesia or injection of muscle relaxants, although a few may have reported previous episodes of muscle cramps or weakness following the administration of certain medications. After certain anesthetic drugs or muscle relaxants are administered, the patient quickly develops a very high fever, sometimes as high as 110 degrees. Muscles twitch and become hard, stiff and rigid. Headache, nausea, vomiting, low blood pressure (hypotension), rapid heart beat (tachycardia) and irregular heartbeat (cardiac arrhythmias) may be present. Major life threatening complications include skeleton muscle degeneration (rhabdomyolysis), renal (kidney) failure, accumulation of fluid in the lungs (pulmonary edema) and disruption of blood clotting mechanisms. Levels of creatine phosphokinase are elevated in the patient. Causes People may inherit a predisposition to malignant hypothermia through an autosomal dominant gene. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or the father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Malignant Hyperthermia may also be related to abnormally high levels of calcium in muscle tissue (sarcoplasmic tissue). The gene that regulates the release of calcium from muscles and causes this disorder has been mapped to region q13.1 of chromosome 19. Affected Population Malignant Hyperthermia is extremely rare. Males and females are affected equally. Since most people have no symptoms unless they take certain drugs, the great majority of people with Malignant Hyperthermia are not diagnosed. Anyone with a relative who died during surgery for an unknown reason may want to be tested for Malignant Hyperthermia. Related Disorders Symptoms of the following disorders can be similar to those of Malignant Hyperthermia. Comparisons may be useful for a differential diagnosis: Boys affected with King syndrome (slanted low set eyes, receding chin, webbed neck, spinal abnormalities and short stature) or perhaps Noonan syndrome may experience Malignant hyperthermia and should be monitored closely during procedures requiring anesthesia. (For more information on this disorder, choose "Noonan Syndrome" as your search term in the Rare Disease Database). A similar syndrome may also occur in myotonic disorders, Duchenne muscular dystrophy, branchial hypertonic myopathy, central core disease or in a congenital myopathy with dysmorphic features. It is not yet known exactly what percentage of patients with these muscle disorders are at risk. (For more information on this disorder, choose "Duchenne Muscular Dystrophy" as your search term in the Rare Disease Database). Neuroleptic Malignant Syndrome is a potentially fatal reaction to any of a group of antipsychotic drugs or major tranquilizers (neuroleptics). These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental or emotional disorders. Symptoms of Neuroleptic Malignant Syndrome include a very high fever (102 to 104 degrees), irregular pulse, rapid heartbeat (tachycardia), increased rate of respiration (tachypnea), muscle rigidity, altered mental states, high or low blood pressure and profuse perspiration. (For more information on this disorder choose "Neuroleptic Malignant Syndrome" as your search term on the Rare Disease Database). Therapies: Standard Malignant Hyperthermia is best prevented by presurgical detection of those at risk. The most successful test for early detection involves a biopsy of muscle from the thigh. This test is generally reserved for patients from families where a Malignant Hyperthermia episode has occurred, or for patients who have had a suspicious reaction to anesthesia. The test is available at a few test centers in the United States. In those who are susceptible to Malignant Hyperthermia, surgery is often performed under regional or local anesthesia. Malignant Hyperthermia patients should be certain that the drug dantrolene sodium is available at a hospital where they are to undergo surgery. Dantrole sodium is a drug that can stop progress of symptoms if given immediately when the reaction to anaesthesia is identified as Malignant Hyperthermia. Therapies: Investigational Scientists studying Malignant Hyperthermia are attempting to develop a less invasive diagnostic test for this disorder and are also trying to develop more effective therapies for the syndrome. Dr. Ron Gregg and Dr. Kirk Hogan at the University of Wisconsin are trying to develop a test to identify persons at risk for Malignant Hyperthermia. Members of families in which two or more persons have developed Malignant Hyperthermia are needed for the study. Interested parties may contact: Dr. Kirk Hogan University of Wisconsin Dept. of Anesthesiology CSC B6/387 600 Highland Ave. Madison, WI 53792 (608) 262-6042 This disease entry is based upon medical information available through August 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Malignant Hyperthermia please contact: National Organization of Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 847-0407 Malignant Hyperthermia Association of the United States P.O. Box 191 Westport, CT 06881-0191 (203) 847-0407 The North American MH Registry Department of Anesthesia Penn State College of Medicine P.O. Box 850 Hershey, PA 17033 For names of on-call physicians available to treat MH emergencies, call 24 hours a day: Medic Alert Foundation International (209) 634-4917 Ask for: INDEX ZERO, Malignant Hyperthermia Consultant List. For Genetic Information and Genetic Counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 Following is a list of Malignant Hyperthermia clinics: Mayo Clinic Dept. of Anesthesiology 200 1st St., SW Rochester, MN 55905 (507) 285-5601 University of Texas Medical Branch at Galveston Dept. of Anesthesiology Galveston, TX 77550 (409) 761-1906 Hahnemann University Medical School Dept. of Anesthesiology Broad and Vine Streets Philadelphia, PA 19102 (215) 448-7960 Massachusetts General Dept. of Anesthesiology Room ACC3 Fruit Street Boston, MA 02114 (617) 726-8800 University of Toronto MH Investigatory Unit Room 5268 Medical Sciences Building Toronto, Ontario M5S-1A References MENDELIAN INHERITANCE IN MAN, 9th ed.: Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 499-500. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders., 1990. Pp. 2262-2263. MALIGNANT HYPERTHERMIA. J.L. Moore & E.L. Rice. American Family Physician (May 1992; 45(5)). Pp. 2245-51. MALIGNANT HYPERTHERMIA. R.E. Larew. Postgrad Med (June 1989; 85(8)). Pp. 117-8, 128-9. Malignant Hyperthermia &pagetitle 8: Malignant Hyperthermia 03963.TXT 'Copyright (C) 1989 National Organization for Rare Disorders, Inc. 734: Mallory-Weiss Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Mallory-Weiss Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mallory-Weiss Laceration Mallory-Weiss Tear Gastroesophageal Laceration-Hemorrhage Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Boerhaave Syndrome Esophagus Perforation Gastritis, Chronic Erosive Zollinger-Ellison Syndrome Hiccups Peptic Ulcer Esophageal Varices General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mallory-Weiss Syndrome is a laceration of the mucous membrane in the junction between the esophagus and the stomach (gastroesophageal). It is usually caused by severe vomiting and can lead to hemorrhaging. Symptoms Mallory-Weiss Syndrome is characterized by a tear in the mucous membrane of the junction between the stomach and esophagus. It is most commonly characterized by abdominal pain, a history of severe vomiting, and vomiting blood (hematemesis). The blood is often clotted and has the appearance of "coffee grounds". The stools will be black and tarry (melena). In cases where there is a substantial loss of blood there may be shock and collapse. A diagnosis of this disorder can be made by visual examination of the esophagus membrane through an endoscope. Causes In Mallory-Weiss Syndrome the tear between the stomach and esophagus is usually caused by severe vomiting. It can also result from a severe trauma to the chest or abdomen, chronic hiccups, intense snoring, lifting and straining, alcoholism, an inflammation of the lining of the stomach (gastritis) or esophagus (esophagitis), hiatus hernia, convulsions or CPR (cardiopulmonary resuscitation). Cancer patients undergoing chemotherapy may get this disorder as a complication of chemotherapy. Affected Population Mallory-Weiss Syndrome accounts for about 10% of all gastrointestinal bleeding episodes. It is more common in alcoholics and affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Mallory-Weiss Syndrome. Comparisons may be useful for a differential diagnosis: Zollinger-Ellison Syndrome is a rare disorder characterized by small tumors (usually in the pancreas) which secrete a hormone that produces excess amounts of stomach acids that cause ulcers. These tumors can also appear in the lower stomach wall, spleen or lymph nodes close to the stomach. Large amounts of gastric acid can be found in lower stomach areas where many ulcers form. Ulcers can appear suddenly even in areas where they are rarely found, may persist following treatment, and can be accompanied by diarrhea. Prompt medical treatment of these ulcers is necessary to prevent complications such as bleeding and perforation. (For more information on this disorder, choose "Zollinger" as your search term in the Rare Disease Database.) Chronic Erosive Gastritis is a common inflammation of the stomach characterized by multiple lesions in the mucous lining, causing ulcer-like symptoms. These symptoms may include a burning and heavy feeling in the pit of the stomach, mild nausea, vomiting, loss of appetite and weakness. In severe cases there can be bleeding of the stomach which may result in anemia. Some people with this disorder, especially chronic aspirin users, may show no apparent symptoms until the disease has advanced. An accurate diagnosis can be made by a physician's visual inspection of the stomach using a gastroscope. (For more information on this disorder, choose "Gastritis, Chronic Erosive" as your search term in the Rare Disease Database.) Boerhaave's Syndrome is a very serious disorder that is characterized by a rupture of the esophagus. It usually occurs from severe vomiting after excessive eating. Those with this disorder may have severe stomach and chest pain, shortness of breath (dyspnea), rapid heartbeat (tachycardia), a blue discoloration of the skin (cyanosis) and eventually circulatory failure due to the loss of blood (shock) through the esophagus. Surgery is usually required to repair this type of rupture. It is important that this disorder be diagnosed promptly so that medical treatment may be administered as soon as possible. Esophagus Perforation is a rupture of the esophagus. When the rupture occurs in the throat area there may be swelling of the neck and continuous pain that extends from the chest to the back. If it occurs in the chest, there may be vomiting, upper abdominal pain, shortness of breath (dyspnea), and severe chest pain. This disorder can be caused by chemical burns in the throat, complications due to an inflammation of the esophagus (esophagitis), peptic ulcer, or an abnormal growth (neoplasm). Diagnostic medical procedures such as endoscopy or gastroscopy can also cause perforation of the esophagus. Peptic Ulcer is a very common disorder characterized by lesions of the mucous membranes of the esophagus, stomach or duodenum. These lesions are caused by an over-secretion of acid or pepsin and are characterized by pain, heartburn, nausea and vomiting. Esophageal Varices are dilated, enlarged, and tortuous veins, arteries or lymphatic vessels at the lower end of the esophagus as a result of portal hypertension; they are superficial and liable to ulceration and massive bleeding. The following disorder may be associated with Mallory-Weiss Syndrome. It is not necessary for a differential diagnosis: Chronic hiccups are sudden, involuntary repeated spasms of the diaphragm. They can last for hours or days, or they recur very often with only a few hours relief between spasms. The persistence of hiccups may indicate a serious illness. Some of the illnesses that include persistent hiccups as a symptom are: pleurisy of the diaphragm, pneumonia, uremia, alcoholism, disorders of the stomach or esophagus, and bowel diseases. Hiccups may also be associated with pancreatitis, pregnancy, bladder irritation, liver cancer, hepatitis, surgery, tumors, lesions and gastroesophageal tears. (For more information on this disorder, choose "Hiccups" as your search term in the Rare Disease Database.) Therapies: Standard In many cases, bleeding caused by Mallory-Weiss Syndrome will stop without treatment. In cases where the bleeding persists, treatment may include sealing the lesion by applying heat or chemicals (cauterization) or high frequency electrical current (electrocoagulation). Blood transfusions and/or the vasopressive drug, pitressin, may be required. Direct pressure may also be used by inserting a catheter which is surrounded by a balloon. The balloon is then inflated (balloon tamponade) to stop the bleeding. Surgery is usually not necessary unless the bleeding cannot be controlled by conservative measures. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers are studying the effectiveness of embolization as a treatment for massive uncontrolled bleeding of the esophagus. This procedure consists of inserting a substance, such as gelfoam, bucrylate, or alcohol (ethanol) and stainless steel coils into the affected area. Further studies will be necessary to determine long-term safety and effectiveness of this treatment. The orphan drug sodium tetradecyl sulfate (Sotradecol) is being used as an experimental treatment for bleeding esophageal varices. For more information on the Orphan Drug sodium tetradecyl sulfate, physicians can contact Elkins-Sinn, Inc., 2 Esterbrook Lane, Cherry Hill, NJ 08003-4099. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mallory-Weiss Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 82. THE MERCK MANUAL, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1987. Pp. 724. UPPER GASTROINTESTINAL BLEEDING. J. Lancaster; PRIM CARE, (March 1988, issue 15 (1)). Pp. 31-41. MULTIPOLAR ELECTROCOAGULATION IN THE TREATMENT OF ACTIVE UPPER GASTROINTESTINAL TRACT HEMORRHAGE. A PROSPECTIVE CONTROLLED TRIAL. L. Laine; N ENGL J MED, (June 25, 1987, issue 316 (26)). Pp. 1613-1617. MALLORY-WEISS TEAR. A COMPLICATION OF CANCER CHEMOTHERAPY. M. Fishman, et al.; CANCER, (December 1, 1983, issue 52 (11)). Pp. 2031-2032. SNORE-INDUCED MALLORY-WEISS SYNDROME. J. Merrill; J CLIN GASTROENTEROL, (February 1987, issue 9 (1)). Pp. 88-89. MALLORY-WEISS SYNDROME. A STUDY OF 224 PATIENTS. C. Sugawa, et al.; AM J SURG, (January 1983, issue 145 (1)). Pp. 30-33. PERCUTANEOUS TRANSHEPATIC EMBOLIZATION OF GASTROPHAGEAL VARICES: RESULTS IN 400 PATIENTS. C.L. Hermine, et al.; (April 1989, issue 152 (4)). Pp. 775-760. Mallory-Weiss Syndrome%( ((pagetitle 734: Mallory-Weiss Syndrome 03932.TXT @+:+Copyright (C) 1991, 1992 National Organization for Rare Disorders, Inc. 858: Leukemia, Chronic Lymphocytic _________________________ ** IMPORTANT ** It is possible the main title of the article (Chronic Lymphocytic Leukemia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Chronic Lymphatic Leukemia CLL Information on the following diseases can be found in the Related Disorders section of this report: Hairy Cell Leukemia Hodgkin's Disease Non-Hodgkin's Lymphoma Waldenstrom Macroglobulinemia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the Resources section of this report. Chronic Lymphocytic Leukemia is a malignant blood disorder in which there is an increased number of white blood cells formed in the lymphoid tissue. This uncontrolled buildup and enlargement of lymphoid tissue can occur in various sites of the body such as the lymph nodes, spleen, bone marrow, and lungs. There are many different forms of Leukemia which are all characterized by an overabundance of white blood cells. In Chronic Lymphocytic Leukemia the disease occurs in the lymphoid tissue. The lymph vessels, which return fluids to the circulatory system, and the lymph nodes, which are a mass of tissue separated into compartments by connective tissue, make up the immune system. The lymph nodes serve as filters, removing foreign particles, tissue debris, and bacterial cells from the circulation. When this system is not working properly, the body's defenses cannot fight off foreign particles. In the majority of cases, Chronic Lymphocytic Leukemia is the result of a rapid production of B lymphocyte cells (a short-lived type of white blood cell that is responsible for the production of vertebrate serum proteins that include antibodies). A small percentage of Chronic Lymphocytic Leukemia cases stem from the overproduction of T lymphocyte cells (a type of white blood cell that have a long life and are important in the resistance of disease). Symptoms One quarter of the patients with Chronic Lymphocytic Leukemia have no symptoms when first diagnosed. The disease is discovered during a routine exam or blood test. Early signs of Chronic Lymphocytic Leukemia may be fatigue, weight loss, loss of appetite (anorexia), labored breathing, low-grade fever, a feeling of fullness in the abdomen due to an enlarged spleen, and night sweats. Bacterial infections such as skin infections, fluid and inflammation of the lungs (pneumonia), and inflammation of the sinuses (sinusitis) often occur. As the disorder advances, the patient loses the ability to fight off infections. Viral infections become an increasing concern. An abnormally high sensitivity to insect bites may also occur. In the later stages of the disorder, the liver, spleen, and lymph nodes may steadily increase in size. Chronic Lymphocytic Leukemia may also invade other tissues such as the skin, eye socket (orbit), mucous membrane that lines the inside of the eyelids (conjunctivae), lungs, sacs that line the chest (pleura), heart, and gastrointestinal tract. Swelling and a yellow pigment of the skin (jaundice) may also occur. Causes Like most other forms of leukemia, the exact cause of Chronic Lymphocytic Leukemia is not known. When the disorder results from a rapid production of B Lymphocyte cells, it is often inherited through autosomal dominant genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Chronic Lymphocytic Leukemia occurs in multiple family members more often than any other type of leukemia. Sibling, especially brothers, seem to have the highest occurrence. Other types of leukemia can occur from exposure to radiation. However, the cause is unknown in most cases. Affected Population Chronic Lymphocytic Leukemia is twice as common in males as in females. This is the most common type of leukemia occuring in multiple family members. The average age of patients is sixty, and the occurrence increases with age. Chronic Lymphocytic Leukemia almost never affects children and is rare under the age of thirty. In the United States, three out of every 100,000 people will be afflicted with this disorder. Related Disorders Symptoms of the following disorders can be similar to those of Chronic Neutropenia. Comparisons may be useful for a differential diagnosis. Hairy Cell Leukemia is a type of blood cancer characterized by the presence of abnormal mononuclear blood cells called "hairy cells," and by a deficiency of other blood cell elements. Symptoms of this disorder may include fatigue, weight loss, abdominal pain, weakness, and easy bruising. (For more information on this disorder, choose "Hairy Cell Leukemia" as your search term in the Rare Disease Database. Hodgkin's Disease is a form of cancer of the lymphatic system, especially the lymph nodes (places where lymphatic vessels unite). Fever, night sweats, swollen glands, and weight loss may occur. Most often a lymph node in the neck is affected. (For more information on this disorder, choose "Hodgkin's Disease" as your search term in the Rare Disease Database). Infectious Mononucleosis is a very prevalent disorder characterized by fever, fatigue, swollen glands, and an abnormally large number of lymphocytes (type of white blood cells) in the blood. It is caused by the Epstein-Barr virus. This disorder is most prevalent in places where young people live in close quarters such as colleges or military. Non-Hodgkin's Lymphomas are a group of cancers of the lymphatic system. Swollen lymph nodes in the neck or groin occur and usually spread throughout the body. Symptoms of this disorder may be anemia (abnormally low levels of red blood cells), weight loss, fever, night sweats, and weakness. (For more information on this disorder, choose "Non-Hodgkin's Lymphoma" as your search term in the Rare Disease Database). Waldenstrom's Macroglobulinemia is a malignant lymph node and blood cell disorder. Large quantities of homogenous immunoglobulin-M (IgM) protein molecules are present in the blood. The most frequent symptoms are an enlarged spleen and liver, abnormalities of the peripheral lymph glands, weakness, anemia, fatigue, and excessive bleeding, especially from the nose and mouth. This disorder tends to run in families and occurs mainly in older males. (For more information on this disorder, choose "Waldenstrom" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Chronic Lymphocytic Leukemia includes platelet transfusions which are used for bleeding associated with a persistent decrease in the number blood platelets (thrombocytopenia). When anemia is present, transfusions of packed red blood cells are usually given. Antibiotics are used to combat bacterial infections usually related to a decrease in the number of leukocytes (lymphopenia) and a low level of gammaglobulin in the blood. Radiation, anticancer, and corticosteroid drugs may be used to prevent the spread of white cells in the lymph tissues. Genetic counseling may be of benefit for patients and families if they have the hereditary form of this disorder. Therapies: Investigational Various antibodies (MoAbs) derived from a single cell are being used in large quantities against the spreading of Chronic Lymphocytic Leukemia. MoAbs combined with other drugs are also being tested at this time. The orphan drug Marinol is currently under investigation as a treatment for Chronic Lymphocytic Leukemia. The drug is manufactured by Warner Lambert Company, 2800 Plymouth Rd., Ann Arbor, MI, 48105-2430. The orphan product Technetium Tc-99m Murine Monoclonal Antibody (IgG2a) to BCE (Immuraid-LL-2(99mTc) is being investigated for use in evaluating the extent of disease in patients with Chronic Lymphocytic Leukemia and some forms of non-Hodgkin's type Lymphoma. The product is sponsored by Immunomedics, Inc., 150 Mt. Bethel Rd., Warren, NJ, 07059. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Chronic Lymphocytic Leukemia, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Leukemia Society of America 733 Third Ave. New York, NY 10017 (212) 573-8484 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 570-71. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 994-98. HEMATOLOGY, 4th Ed.: William J. Williams, et al., Editors; McGraw-Hill, Inc., 1990. Pp. 1005-20. Leukemia, Chronic Lymphocytic thiQ, T,pagetitle 858: Leukemia, Chronic Lymphocytic 03933.TXT %Copyright (C) 1989, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 695: Leukemia, Chronic Myelogenous _________________________ ** IMPORTANT ** It is possible that the main title of the article (Chronic Myelogenous Leukemia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Chronic Myeloid Leukemia Chronic Granulocytic Leukemia Chronic Myelocytic Leukemia GML CGL Information on the following diseases can be found in the Related Disorders section of this report: Polycythemia Vera Myelofibrosis-Osteosclerosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Chronic myelogenous leukemia is characterized by an excessive amount of white blood cells in the bone marrow, spleen, liver and blood. As the disease progresses, the leukemic cells invade other areas of the body including the intestinal tract, kidneys, lungs, gonads and lymph nodes. There are two phases to chronic myelogenous leukemia. The first phase, or chronic phase, is characterized by an overproduction of white blood cells. An advanced phase is called the acute phase or blast crisis. At this point, over 50% of the cells in the bone marrow are immature malignant cells (blast cells or promelocytes). In the acute phase, the leukemia is very aggressive and does not respond well to therapy. Approximately 85% of all patients with chronic myelogenous leukemia enter the acute phase. Symptoms Many patients with chronic myelogenous leukemia show nonspecific symptoms at the time of diagnosis. The most common symptoms are fatigue, weakness, itchiness, night sweats, abdominal discomfort or weight loss. An enlarged spleen is usually discovered upon physical examination. Chronic myelogenous leukemia is commonly diagnosed when a patient is undergoing blood tests for some other reason. When the acute phase of chronic myelogenous leukemia occurs, the patient experiences severe weight loss, high fever, bone pain, enlargement of the liver and spleen, pain in the joints (arthralgia), excess calcium in the blood and hemorrhages appearing as patches of purplish discoloration on the skin and mucous membranes. Causes The exact cause of chronic myelogenous leukemia is not known. It is believed that in some cases excessive exposure to radiation increases an individual's chances of developing the disease. Blood samples of patients with chronic myelogenous leukemia show the presence of abnormal and useless cells that reproduce more rapidly than normal cells. Ninety percent of these neoplastic cells show a consistent rearrangement of chromosomes. This rearrangement is the result of a transference of genetic material from chromosome 22 to chromosome 9 and vice versa. As a result of this transference, chromosome 22 ends up shorter than normal. This shortened chromosome is known as the Philadelphia chromosome, and the possibility that it plays a role in the onset of the disease or in the reproduction of neoplastic cells is being investigated. Affected Population Chronic myelogenous leukemia is slightly more prevalent in males than in females. It may occur at any age, but predominately appears between the 30's and 40's. Related Disorders Symptoms of the following disorders can be similar to those of chronic myelogenous leukemia. Comparisons may be useful for a differential diagnosis: Polycythemia Vera is a chronic disorder of the bone marrow. It is characterized by an increase in the number of red blood cells (erythrocytosis) and hemoglobin concentration in the blood. The initial symptoms are fatigue, drowsiness, itchiness and dizziness. (For more information on this disorder, choose "Polycythemia" as your search term in the Rare Disease Database). Myelofibrosis-Osteosclerosis is a disorder characterized by the growth of fibrous tissue in the bone marrow causing anemia, weakness and fatigue due to constant replacement of normal bone marrow cells. Episodes of severe pain in the abdomen, the bones and joints also may occur. (For more information on this disorder, choose "Myelofibrosis" as your search term in the Rare Disease Database). There are many other types of leukemia that may mimic chronic myelogenous leukemia. The leukemias are malignant disorders of white blood cells. Therapies: Standard Treatment of chronic myelogenous leukemia includes radiation therapy to the spleen and chemotherapy. The objective is to reduce both the spleen size and the white blood cell count, inducing a remission. The most commonly prescribed drugs are hydroxyurea or busulfan. Since decreasing the bone marrow's production of white blood cells does not ordinarily change the natural course of chronic myelogenous leukemia toward the acute stage, more aggressive therapies are also being tried. These include other chemotherapeutic drugs, early removal of the spleen, and bone marrow transplantation. The most success has been achieved with bone marrow transplantation. The best recipients for bone marrow transplantation are under the age of 40. Transplantation must be done before the onset of the acute phase of chronic myelogenous leukemia, since successful results of marrow transplantation after the acute phase has begun are not as high. The acute phase of chronic myelogenous leukemia proceeds aggressively and rapidly. Some patients seem to respond temporarily to vincristine and prednisone therapy, but in general chemotherapy may be ineffective. There is less chance of a second remission during the acute phase. The FDA recently approved the orphan drug Idamycin (Idarubicin hydrochloride) for use in the treatment of Chronic Myelogenous Leukemia. Idarubicin is manufactured by Adria Laboratories. Other treatment is symptomatic and supportive. Therapies: Investigational Interferon Alfa-2a, Recombinant (Roferon-A) is a new orphan drug being used in the treatment of Chronic Myelogenous leukemia (CML). It is manufactured by Hoffman-LaRoche, Inc., 340 Kingsland St., Nutley, NJ 07110. Of ninety-six patients treated with this therapy, remission occurred in seventy for up to a period of thirty months. Amgen, Inc., 1840 Dehavilland Dr., Thousand Oaks, CA, 91320, is developing an orphan drug to be used in the treatment of myelodysplastic syndromes. The name of the drug is Recombinant-Methionyl Granulocyte-Colony Stimulating Factor (Neupogen). The Office of Orphan Products Development gave a New Grant Award to Dr. Walter A. Blatter in 1990 for his work with immunotherapy of Myelcid Leukemia using Anti-9-blocked Ricin Immunoconjugate. Dr. Blatter is with ImmunoGen, Inc. of Cambridge, MA. For acute attacks of CML, Medarex, Inc., 12 Commerce Ave., West Lebanon, NH, 03784, has developed the biologic Monoclonal Antibody PM81. Idarubicin (Idamycin) is a new orphan product being used in the treatment of Chronic Myelogenous Leukemia. The drug is manufactured by: Adria Laboratories P.O. Box 16529 Columbus, OH 42316-6529 This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Chronic Myelogenous Leukemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Leukemia Society of America 733 Third Avenue New York, NY 10017 (212) 573-8484 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1081-1083. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D. ed.-in-chief; Merck, Sharp & Dohme Laboratories., 1982. Pp. 755-756. BLAST CRISIS Of PHILADELPHIA CHROMOSOME-POSITIVE CHRONIC MYELOCYTIC LEUKEMIA (CML). B. Anger et al; BLUT, (Sep. 1988; 57(3):131-7. BONE MARROW TRANSPLANTATION FOR CHRONIC MYELOGENOUS LEUKEMIA IN CHRONIC PHASE. J.M. Goldman et al; ANN INTERN MED, (Jun 1988; 108(6):806-14. INTERFERON-ALPHA PRODUCES SUSTAINED CYTOGENIC RESPONSES IN CHRONIC MYELOGENOUS LEKUEMIA., M. Talpaz, et al., Ann Intern Med, (April 1, 1991, issue 114). Pp. 532-538. Leukemia, Chronic Myelogenous &pagetitle 695: Leukemia, Chronic Myelogenous 03934.TXT Copyright (C) 1986, 1988, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 269: Leukemia, Hairy Cell _________________________ ** IMPORTANT ** It is possible the main title of the article (Hairy Cell Leukemia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Leukemic Reticuloendotheliosis Information on the following diseases can be found in the Related Disorders section of this report: Leukemias Letterer-Siwe Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Hairy Cell Leukemia is a type of blood cancer characterized by the presence of abnormal mononuclear blood cells called "hairy cells", and by a deficiency of other blood cell elements (pancytopenia). Symptoms Onset of Hairy Cell Leukemia is usually gradual. Symptoms include vague abdominal pain, a feeling of abdominal fullness, malaise, fatigue, weakness, weight loss and easy bruising. A heavy infiltration of red pulp and sinuses of the spleen by hairy cells occurs. Similar hairy cells infiltrate bone marrow, lymph nodes and liver. The disorder may be chronic. If the spleen is removed (splenectomy) a long survival rate is common. In some cases the onset of Hairy Cell Leukemia may be acute. In these cases the prognosis may not be as good as with the chronic type. Causes The cause of Hairy Cell Leukemia is unknown. Affected Population Hairy Cell Leukemia affects about 6,000 persons in the United States. Most of the patients are males of fifty years old or older. Related Disorders Leukemias are the generalized cancerous (neoplastic) disorders of the blood forming tissues, such as bone marrow. They primarily affect tissues forming the white blood cells (leukocytes). There are many different types of Leukemias. Letterer-Siwe disease (Abt-Letterer-Siwe disease, or Systemic Aleukemic Reticuloendotheliosis) is an autosomal recessive hereditary disorder characterized by generalized enlargement of lymph nodes, liver and spleen, combined with a persistent, spiking, low-grade fever. Symptoms include pallor, discrete yellowish-brown spotty elevated (maculopapular) lesions, sometimes with ulceration. Therapies: Standard Until recently, treatment of Hairy Cell leukemia consisted of surgically removing the spleen. The drug methotrexate (with leucovorin as an antidote against its toxic effects) was commonly used to treat this disorder. Glucocorticoids (i.e., for vasculitic symptoms), and alkylating agents are other commonly used drugs. The orphan drug Alpha Interferon has been approved by the FDA for use in treatment of Hairy Cell Leukemia. The drug is manufactured by Hoffman-LaRoche and Schering Plough. Interferon is a hormone naturally produced by the body to fight viral infections. Clinical trials conducted prior to FDA approval indicate that two years after treatment with Alpha Interferon was begun, 92%-94% of treated patients were alive, compared to fewer than 50% of patients treated with conventional therapies. The disease went into remission in 75% to 90% of patients treated with Alpha Interferon. Treatment with Alpha Interferon may include daily injections for up to 6 months, followed by maintenance injections 3 times weekly. Side effects mimic flu-like symptoms which diminish over time. The orphan drug Nipent has been approved by the FDA for patients who do not respond to ordinary therapy for Hairy Cell Leukemia. The drug is manufactured by Warner-Lambert. The drug Leustatin (cladribine or 2CDA) has been approved for treatment of HCL. This drug has proved to be an effective drug in the therapy of Hairy Cell Leukemia. Therapies: Investigational Interleukin-2 has been used on an experimental basis to restore natural killer cell activity in Hairy Cell Leukemia. The drug deoxycoformycin is being used in clinical trials on patients with Hairy Cell Leukemia. Information about obtaining this drug can be located through the Comprehensive Cancer Center (Dr. Eric Kraut), Ohio State University, Columbus, Ohio, or the Investigational Drug Branch of the National Cancer Institute in Bethesda, Maryland. This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Hairy-Cell Leukemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Hairy Cell Leukemia Foundation P.O. Box 72 Newtonville, MA 02160 (617)-244-8478 Leukemia Society of America 733 Third Avenue New York, NY 10017 (212) 573-8484 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) References Recombinant Alpha-2 Interferon in the Treatment of Hairy Cell Leukemia: Thompson JA et al.: Cancer Treatment Rep 69 (7-8): 791-3 (1985 Jul-Aug). Splenectomy for Hairy Cell Leukemia; A Clinical Review of 63 Patients: Van Norman AS et al.: Cancer 57 (3): 644-8 (1986 Feb 1). Therapeutic Options in Hairy Cell Leukemia: Groopman JE: Seminaries in Oncology 12 (4 Suppl 5): 30-4 (1985 Dec). LASTING REMISSIONS IN HAIRY-CELL LEUKEMIA INDUCED BY A SINGLE INFUSION OF 2-CHLORODEOXYADENOSINE, Piro, Lawrence, et al.; N Eng J Med, (April 19, 1990, issue 322 (16)). Pp. 1117-1121. Leukemia, Hairy Cell pagetitle 269: Leukemia, Hairy Cell 03935.TXT B|BCopyright (C) 1989 National Organization for Rare Disorders, Inc. 676: Leukodystrophy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Leukodystrophy) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Disorder Subdivisions: Refsum's Disease Cerebrotendinous Xanthomatosis Metachromatic Leukodystrophy Globoid Leukodystrophy (Krabbe's Disease) Adrenoleukodystrophy Sudanophilic Leukodystrophy (Schilder's Disease Pelizaeus-Merzbacher Brain Sclerosis Canavan's Disease Alexanders Disease Information on the following diseases can be found in the Related Disorders section of this report: Multiple Sclerosis Gaucher's Disease Tay-Sachs Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leukodystrophy is the name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath or white matter of the brain, causing the various types of leukodystrophy. The myelin sheath, which acts as insulation of the nervous system, is composed of different lipids (fatty substances). Thus defects in production and degradation of these lipids can lead to the many ways in which these diseases can manifest themselves. Symptoms Leukodystrophy affects the white matter of the brain or insulation (myelin sheath) of the nervous system made up of the brain, the spinal cord and nerves. The symptoms of the disease tend to get worse as the patient gets older. Most of the leukodystrophies are present at birth though some may appear more slowly over time. The particular chemical defect determines the type of leukodystrophy a person will have. The myelin sheath is made up of a number of fatty substances or lipids that protect and insulate it. When this protection is defective the brain, spinal cord and nerves can be seriously impaired. Leukodystrophy causes the patient to have problems with movement, vision, hearing, feeling and thinking. Infants or children who initially appear healthy will begin to change as they mature. Parents will notice the child's mental abilities are deteriorating, or the way the child walks has changed, or the child's vision is poor. There can also be muscle stiffness or floppiness, paralysis or convulsions. These symptoms may occur slowly or they can happen quickly according to the type of leukodystrophy affecting the child. DISORDER SUBDIVISIONS: Refsum Syndrome is a type of leukodystrophy inherited as a recessive trait. Symptoms may include a degenerative nerve disease, peripheral neuropathy, impaired muscle coordination, walking difficulties (ataxia), a progressive vision disorder (retinitis pigmentosa), and bone and skin changes. This disorder is believed to be due to the absence of phytanic acid hydroxylase in the blood, an enzyme needed for the metabolism of phytanic acid which is found in dairy products, beef, lamb and some seafoods. It is characterized by the accumulation of phytanic acid in the plasma and tissues. (For more information on this disorder please choose "Refsum" as you search term in the Rare Disease Database). Cerebrotendinous Xanthomatosis is a type of Leukodystrophy which is related to the chemical cholestanol in the myelin sheath. It is inherited as an autosomal recessive trait. Cerebrotendinous Xanthomatosis is characterized by deposits of lipid granulomatosis especially in the brain and other tissues. The plasma shows high cholesterol levels but the cholesterol level in the blood is normal. Progressive cerebellar ataxia, (usually beginning after puberty), juvenile cataracts, and spinal cord involvement are symptoms of the disorder. It is possible to detect persons who are carriers of this disorder, as well as a prenatal diagnosis for pregnant women. Metachromatic Leukodystrophy is inherited as an autosomal recessive genetic trait. It affects the brain and spinal cord. The disease is characterized by progressive paralysis and dementia. It occurs in the following forms: Infantile, Juvenile, and Adult onset MLD, and a form of MLD which is due to a deficiency of Cerebroside Sulfatase Activator. MLD usually begins gradually in a child or adult who previously appeared healthy. Some subtle change in the patient's thought processes, memory, behavior, or walking pattern is noticeable. Sometimes a disturbance in vision, or less commonly in hearing, or numbness in parts of the body may be the first symptoms. (For more information on this disorder choose "Metachromatic" as your search term in the Rare Disease Database). Krabbe's Leukodystrophy is a rare genetic lipid storage disorder caused by a deficiency of the enzyme galactoside beta-galactosidase (galactosyl-ceramidase). This causes the myelin sheath surrounding nerves in the brain to degenerate (demyelination). Characteristic globoid cells appear in affected areas of the brain. It is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness, deafness and pseudobulbar palsy. Symptoms of Krabbe's usually first occur between three and five months of age. A later-onset form occurs at eighteen months of age or later. (For more information on this disorder choose "Krabbe's" as your search term in the Rare Disease Database). Adrenoleukodystrophy (ALD) can be inherited in two ways: x-linked or autosomal recessive. Both are characterized by destruction of the lipid sheaths surrounding the nerves in the brain. All types of ALD are characterized by an accumulation of very long chain fatty acids, which is a type of fat molecule that accumulates in the body's tissues, especially in the adrenal gland and the white matter of the brain. There are three different types of Adrenoleukodystrophy, each distinguished by the time of onset and by the features that are present. Childhood ALD affects only males between the ages of four and eight years. There are behavioral changes, signs of decreased adrenal gland function and neurological symptoms. Adolescent or adult onset ALD affects only males and first appears around the age of twenty one. It includes progressive leg stiffness, paralysis of the legs and gait abnormalities (ataxia). Neonatal ALD begins at birth and affects both males and females. It is characterized by seizures, decreased muscle tone, mental retardation, vision problems, enlargement of the liver and adrenal insufficiency. It affects both the white and grey matter of the brain. (For more information on this disorder choose "ALD" as your search term in the Rare Disease Database). Schilder's Disease is an infantile form of leukodystrophy. It is similar to Neonatal ALD in that the chemical missing from the myelin sheath is also a very long chain fatty acid. It is inherited as an autosomal recessive disease and affects males and females equally. Pelizaeus-Merzbacher Brain Sclerosis usually appears in early infancy, although there is also a type that occurs later in childhood. The child fails to develop normal head control and grows very slowly. There is lack of eye control and involuntary motor movements. Later, there may be tremors, grimacing, weakness, unsteady gait, and muscle contractures. In cases of later onset, speech deteriorates, arms and legs become spastic and mental retardation occurs. (For more information choose "Peliazeus" as your search term in the Rare Disease Database). Canavan's Leukodystrophy occurs in early infancy with the development of microscopic fluid filled spaces in the white matter of the brain. The first symptoms are loss of muscle control. Floppiness and weakness occur in the muscles supporting the head. There are feeding problems, mental retardation, and apathy. The head becomes enlarged as the brain swells, and the bones of the skull do not fuse normally. This very rare form of leukodystrophy most frequently affects male and female infants of Eastern European Jewish ancestry. (For more information on this disorder choose "Canavan's" as your search term in the Rare Disease Database). Alexander's Disease is the rarest of the leukodystrophies. The destruction of the white matter in the brain is accompanied by the formation of fibrous, deposits known as Rosenthal fibers. Onset occurs in infancy, affecting mostly males and resulting in mental and physical retardation. As in Canavan's Leukodystrophy there is progressive enlargement of the brain and head, spasticity of the limbs, and in some cases seizures. It is inherited as an autosomal recessive genetic trait. The exact myelin chemical which causes the disorder is unknown. (For more information choose "Alexander's" as your search term in The Rare Disease Database). Causes Leukodystrophy is caused by a breakdown in the chemicals that make up the myelin sheath in the nervous system or white matter in the brain. Leukodystrophy in infants and children can occur because of either autosomal recessive or X-linked genetic traits. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Leukodystrophy that occurs in adults is caused by autosomal dominant genetic traits. In autosomal dominant disorders, a single abnormal gene, contributed by either parent, "overrides" the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a 50% change of inheriting the disorder. Males and females are affected in equal numbers. (For more detailed information about the genetic transmission of all forms of Leukodystrophy, choose "Leukodystrophy" as you search term in the Rare Disease Database). Affected Population The Leukodystrophies can affect either adults or children. However it is more common in children. It can also affect males and females equally but in some types it affects only males. Some types of Leukodystrophy tend to affect persons of Eastern European Jewish ancestry, and other types affect persons of all heritages. Related Disorders Symptoms of the following disorders can be similar to those of Leukodystrophy. Comparisons may be useful for a differential diagnosis: Multiple Sclerosis is a chronic disease affecting the myelin sheath of the brain and spinal cord (central nervous system). It may be progressive, relapsing and remitting, or stable. MS consists of small lesions called plaques that form randomly throughout the brain and spinal cord. These plaques on the myelin sheath prevent proper transmission of nervous system signals. Symptoms may include visual and speech problems, numbness, walking difficulty and loss of bladder or bowel control. MS affects adults, and its cause is unknown. (For more information on this disorder, choose "MS" as your search term in the Rare Disease Database). Gaucher's Disease is a genetic disease of lipid metabolism caused by the failure to produce the enzyme glucocerebrosidase. It is the most common of the lipid storage diseases. There are three types of Gaucher's disease. All three are characterized by the presence of lipid-laden (Gaucher) cells in the bone marrow and other organs such as the spleen and liver. (For more information on this disorder, choose "Gaucher" as your search term in the Rare Disease Database). Tay-Sachs Disease is a genetic disorder that causes the progressive destruction of the central nervous system in children. It is generally found among children of Eastern European Jewish heritage. Children with Tay-Sachs appear normal at birth and seem to develop normally until the age of about six months when they begin to deteriorate. There is general weakness, loss of vision, feeding difficulties and absence of normal development. The disease is progressive. (For more information on this disorder, choose "Tay-Sachs" as your search term in the Rare Disease Database). Therapies: Standard Treatment of most leukodystrophies is symptomatic and supportive. There are treatments for Refsum's Disease and Cerebrotendinous Xanthomatosis. The treatment for Refsum's consists of a diet which restricts the intake of foods containing phytanic acid. Therapy for Cerebrotendinous Xanthomatosis is with chenodeoxycholic acid. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational Researchers are studying ways to control metabolism of long chain fatty acids with the hope of developing treatments for several forms of leukodystrophy. Additionally, geneticists are trying to identify the genes that cause certain types of leukodystrophy in order to understand the biochemical defects that cause these disorders. For more information about clinical and genetic research projects contact the United Leukodystrophy Foundation which is listed in the resources section of this report. This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leukodystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 895-3211 (800) 728-5483 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 Adrenoleukodystrophy (ALD) Project Hugo M. Moser, M.D. John F. Kennedy Institute 707 North Broadway Baltimore, MD 21205 (301) 522-5405 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France Tay-Sachs and Allied Diseases Association 17 Sydney Road Barkingside, Ilford, Essex, England 01-550-8989 For Genetic Information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 205, 573. THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp.857-905. Leukodystrophy}C Cpagetitle 676: Leukodystrophy 03936.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 157: Leukodystrophy, Canavan's _________________________ ** IMPORTANT ** It is possible that the main title of the article (Canavan's Leukodystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Spongy Degeneration of the Brain Van Bogaert-Bertrand Syndrome Familial Idiocy with Spongy Degeneration of Neuraxis Canavan-Van Bogaert-Bertrand Disease Canavan's Disease Spongy Degeneration Spongy Degeneration of CNS Spongy Degeneration of White Matter Spongy Disease Van Bogaert-Bertrand Type Spongy Degeneration General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Canavan's Leukodystrophy is a rare brain disease affecting infants which usually becomes evident after the first six months of life. Individuals with this disorder lack sufficient quantities of an enzyme known as aspartoacylase which is responsible for breaking down a chemical (N-acetylaspartic acid or NAA) present in high concentrations in the brain. The appropriate breakdown of this chemical may either prevent damaging buildup in the brain or trigger chemical reactions necessary for proper brain function. A slow progressive degeneration of the brain occurs in this type of Leukodystrophy, as well as progressive paralysis and blindness. Symptoms Onset of Canavan's Leukodystrophy is in early infancy, with the loss of previously acquired skills. The first symptoms include feeding difficulties, progressive mental retardation, apathy, muscular flaccidity (floppiness) and weakness, especially in the muscles supporting the head. The head becomes progressively enlarged as the brain swells and the bones of the skull fail to fuse normally. Vision, and sometimes hearing, deteriorate due to nerve degeneration. Spasticity and paralysis develop. Mental deterioration progresses with time. Neurologic examination reveals decreased muscle tone (floppiness) and optic atrophy. The brain itself is enlarged. Cyst-like spaces pervade the white matter, and the myelin sheath "insulating" the neuron's axons is destroyed in most parts of the brain. Computerized axial tomography (CAT scan) demonstrates severe white matter changes, and helps to rule out hydrocephalus. Pneumonia may develop due to depressed chest movement while breathing. Causes Canavan's Leukodystrophy is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Canavan's Leukodystrophy affects people of East European Jewish ancestry. The disorder is familial; infants of both sexes are affected. Related Disorders Alexander's Disease is an infantile form of leukodystrophy characterized by an enlarged brain, mental retardation, failure to thrive, spasticity and possibly seizures. Adrenoleukodystrophy (Schilder's Disease or Schilder's Encephalitis Periaxalis Diffusa) is a rare, sex-linked recessive metabolic disorder that occurs in males and is characterized by adrenal atrophy and widespread, diffuse demyelination (destruction of the myelin sheath of nerve cells). This produces mental deterioration, corticospinal dysfunction and blindness. For more information on the above disorders, choose "Alexander" and "Adrenoleukodystrophy" as your search terms in the Rare Disease Database. Therapies: Standard Treatment of Canavan's Leukodystrophy is symptomatic and supportive. Discomfort may be alleviated by means of supportive care. Therapies: Investigational The enzyme responsible for Canavan's Leukodystrophy has been identified. This finding may lead to the development of prenatal diagnostic tests and possibly development of therapies to treat this disorder. A study is underway to establish reliable diagnostic urine, blood and enzymatic tests for Canavan's patients. A group of researchers is currently doing studies on peroxisomal diseases such as Canavan's Leukodystrophy. They seek to obtain blood and urine samples, and possibly skin biopsies, from affected patients and families. Liver biopsy tissue and tissues obtained postmortem can also be extremely valuable in furthering this research. Prior arrangements are advisable for the latter. These studies are for research purposes only. They offer no immediate promise of any help for affected children, nor of improved counseling for families. For more information, please contact: Dr. Anne B. Johnson Dept. of Pathology--K427 Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 (212) 430-2492 This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Canavan's Leukodystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 895-3211 (800) 728-5483 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France National Foundation for Jewish Genetic Diseases 250 Park Avenue New York, NY 10177 (212) 682-5550 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 For more information on genetics and genetic counseling, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2216. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1013. Leukodystrophy, Canavan's pagetitle 157: Leukodystrophy, Canavan's 03937.TXT %Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 379: Leukodystrophy, Krabbe's _________________________ ** IMPORTANT ** It is possible the main title of the article (Krabbe's Leukodystrophy) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Galactocerebrosidase Deficiency Galactoside Beta-Galactosidase Deficiency Galactosylceramidase Deficiency Galactosyl Ceramide Lipidosis Globoid Leukodystrophy Krabbe's Disease Leukodystrophy, Globoid Cell Sphingolipidosis Information on the following diseases can be found in the Related Disorders section of this report: Adrenoleukodystrophy Canavan's Leukodystrophy Metachromatic Leukodystrophy Alexander's Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Krabbe's Leukodystrophy is a very rare hereditary lipid storage disorder caused by a deficiency of the enzyme galactoside beta-galactosidase (galactosyl-ceramidase). This causes the myelin sheath surrounding nerves in the brain to degenerate (demyelination). Characteristic globoid cells appear in affected areas of the brain. This metabolic disorder is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness, deafness and pseudobulbar palsy. Symptoms Onset of Krabbe's Leukodystrophy in the predominant infantile form (90% of cases) occurs between 3 and 5 months of age. A late-onset form of the disorder occurs at 18 months or a later age. Infants affected by Krabbe's Leukodystrophy are fretful and apathetic. Vomiting and partial unconsciousness are other possible symptoms. The lower extremities may have spastic contractions. Seizures characterized by alternating contraction and relaxation (clonic), or by continuous tension (tonic), may also occur. Affected infants are hypersensitive to sounds and noises. Mental and physical development may be slow. Because of degeneration of certain parts of the brain, the legs are sometimes rigidly extended at the hip and knee; the arms may be rotated at the shoulder and extended at the elbow; and the ankles, toes and fingers may be flexed (decerebrate rigidity). Blindness caused by brain cortex degeneration may also occur. Patients with Krabbe's Leukodystrophy may also have difficulty swallowing (dysphagia). Causes Krabbe's Leukodystrophy is a hereditary disorder transferred to offspring through recessive genes. It is caused by a deficiency of the enzyme galactoside beta-galactosidase (galactosyl ceramidase). This enzyme is needed for the metabolism of galactocerebroside (galactosyl ceramide), a component of the fatty sheath around the nerves (myelin). The demyelination of the nerve cells in the large hemispheres of the brain (and in the brain stem) causes the neurological symptoms of Krabbe's Leukodystrophy. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population About 1 in 40,000 newborn babies in the United States is affected with Krabbe's Leukodystrophy. Males are affected as often as females. Related Disorders There are many related forms of Leukodystrophy. For more information on these disorders, choose "Leukodystrophy" as your search term in the Rare Disease Database. Adrenoleukodystrophy (ALD, or Schilder's Disease) is one of many different leukodystrophies. The disorder may appear in two distinct genetic forms: sex-linked and Neonatal ALD. Both are characterized by destruction of the lipid sheaths surrounding the nerves (demyelination) in the brain. However, they differ in the mode of inheritance, severity and type of symptoms. All types of ALD are characterized by an accumulation of Very Long Chain Fatty Acids (VLCFA), which is a type of fat molecule that accumulates in the body's tissues, especially in the adrenal gland and the white matter of the brain. An accumulation of lymph and plasma cells around the blood vessels in the central nervous system may also occur. Canavan's Leukodystrophy (Spongy Degeneration of the Brain) is a form of leukodystrophy which causes the white matter of the brain to be replaced by microscopic fluid-filled spaces. This disorder, a hereditary disease in children, is characterized by structural abnormalities and deterioration of motor, sensory, and intellectual functions. It seems to affect persons of Eastern European Jewish ancestry most frequently. The disorder is progressive and degenerative. Metachromatic Leukodystrophy (MLD) is an autosomal recessive inherited disease which affects the brain and spinal cord. The disease is characterized by progressive paralysis and dementia. Alexander's Disease is an infantile form of leukodystrophy characterized by an enlarged brain, mental retardation, failure to thrive, spasticity and possibly seizures. For more information on the above disorders, choose "Adrenoleukodystrophy," "Canavan," "MLD," and "Alexander" as your search terms in the Rare Disease Database. Therapies: Standard Krabbe's Leukodystrophy can be diagnosed by testing the activity of the enzyme galactocerebrosidase (galactosylceramidase) in fibroblast cells obtained from an infant or from a fetus by amniocentesis. Treatment for Krabbe's Leukodystrophy is symptomatic and supportive. Genetic counseling may be helpful for families of children affected by this illness. Therapies: Investigational Current research is directed toward the identification and cloning of genes, and defining the specific gene abnormality responsible for the leukodystrophy. Bone marrow transplantation is being researched as a possible treatment for Krabbe's Leukodystrophy patients. This involves extracting cross-matched bone marrow from a healthy donor and injecting it into a patient. The healthy bone marrow cells enter the general circulation and migrate through the blood to marrow cavities in the patient's bones. The new marrow cells begin to grow and produce new white blood cells and platelets. This procedure involves risks which must be balanced against possible benefits. It is used experimentally in the most severe cases of this disorder. Bone marrow transplantation is being tested as a treatment for infantile Krabbe's Leukodystrophy. Bone marrow transplantation is not recommended for patients with relatively advanced neurological symptoms. More research is needed to determine the safety and effectiveness of this procedure. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Krabbe's Leukodystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 895-3211 (800) 728-5483 Adrenoleukodystrophy (ALD) Project Hugo M. Moser, M.D. John F. Kennedy Institute 707 North Broadway Baltimore, MD 21205 (301) 522-5405 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France For more information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References A CORRELATIVE SYNOPSIS OF THE LEUKODYSTROPHIES: P. Morell; Neuropediatrics (September 1984: Suppl. 15). Pp. 62-65. PRENATAL DIAGNOSIS OF KRABBE DISEASE USING A FLUORESCENT DERIVATIVE OF GALACTOSYLCERAMIDE: M. Zeigler, et al.; Clinica Chimica Acta (October 15, 1984: issue 142,3). Pp. 313-318. Leukodystrophy, Krabbe's &pagetitle 379: Leukodystrophy, Krabbe's 03938.TXT Copyright (C) 1986, 1987, 1988 National Organization for Rare Disorders, Inc. 212: Leukodystrophy, Metachromatic _________________________ ** IMPORTANT ** It is possible the main title of the article (Metachromatic Leukodystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms MLD Arylsulfatase A Deficiency ARSA Metachromatic Form of Diffuse Cerebral Sclerosis Diffuse Cerebral Sclerosis Cerebroside Sulfatase Deficiency Greenfield Disease Leukoencephalopathy Metachromatic Leukoencephalopathy Sulfatide Lipidosis Sulfatidosis DISORDER SUBDIVISIONS Late Infantile Metachromatic Leukodystrophy Juvenile MLD, also known as Juvenile Onset Metachromatic Leukodystrophy Adult Metachromatic Leukodystrophy Metachromatic Leukodystrophy Due to Lack of Cerebroside Sulfatase Activator General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Metachromatic Leukodystrophy (MLD) is an autosomal recessive inherited disease which affects the brain and spinal cord. The disease is characterized by progressive paralysis and dementia. It appears in the following forms: (Late) Infantile Metachromatic Leukodystrophy Onset of this form of the disorder is usually in the second year of life. Clinical features are motor impairment, rigidity, mental deterioration and sometimes convulsions. Juvenile Metachromatic Leukodystrophy Onset of Juvenile MLD occurs between the ages of 4 and 10 years. Adult Metachromatic Leukodystrophy Onset of this form of MLD occurs after 16 years of age. Dystonia (abnormal muscle tone) and impaired articulation or stuttering (dysarthria) is a symptom of Adult MLD. Metachromatic Leukodystrophy Due to Deficiency of Cerebroside Sulfatase Activator The clinical picture for this type of Leukodystrophy is the same as Juvenile MLD. Symptoms The manifestations of Metachromatic Leukodystrophy (MLD) usually begin gradually in a child or adult who previously has appeared healthy. Most commonly, some subtle change in the patient's thought processes, memory, behavior, or gait will be noticeable. Sometimes a disturbance in vision, or less commonly in hearing, or numbness in parts of the body may be the first symptom. Often in the early stages of the disorder, the signs and symptoms of Metachromatic Leukodystrophy are vague and difficult to recognize or diagnose. Causes Metachromatic Leukodystrophy (MLD) is an autosomal recessive inherited disorder caused by a deficiency in the enzyme arylsulfatase A. Arylsulfatase A is an enzyme which acts on the sulfatide of the fatty white sheath (myelin) of the nerve cells in the brain and the spinal cord. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Metachromatic Leukodystrophy affects persons of both sexes and all nationalities. Related Disorders Amaurotic Familial Idiocy (Tay-Sachs disease) is a genetic Disorder occurring in children which causes progressive deterioration of the central nervous system. It is generally found among children with Jewish heritage and becomes clinically evident at about 6 months of age. Sandhoff Disease, a variant of Tay-Sachs Disease, is clinically indistinguishable from the more common form of Tay-Sachs Disease, but occurs in the general population. (For more information on the above disorders, choose "Tay-Sachs" and "Sandhoff" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Metachromatic Leukodystrophy is symptomatic and supportive. Therapies: Investigational Current research is directed toward the identification and cloning of genes, and defining the specific gene abnormality responsible for the leukodystrophy. Bone marrow transplantation is being researched as a possible treatment for Metachromatic Leukodystrophy patients. This involves extracting cross-matched bone marrow from a healthy donor and injecting it into the patient. The healthy bone marrow cells enter the general circulation and migrate through the blood to marrow cavities in the patient's bones. The new marrow cells begin to grow and produce new white blood cells and platelets. This procedure involves risks which must be balanced against possible benefits. It is used experimentally in the most severe cases of this disorder. Bone marrow transplantation is being tested as a treatment for late infantile Metachromatic Leukodystrophy. Bone marrow transplantation is not recommended for patients with relatively advanced neurological symptoms. More research is needed to determine the safety and effectiveness of this procedure. This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Metachromatic Leukodystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 United Leukodystrophy Foundation, Inc. 2304 Highland Drive Sycamore, IL 60178 (815) 895-3211 (800) 728-5483 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1013. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2215-6. Leukodystrophy, Metachromatic pagetitle 212: Leukodystrophy, Metachromatic 03939.TXT Copyright (C) 1986, 1989, 1990 National Organization for Rare Disorders, Inc. 229: Lichen Planus _________________________ ** IMPORTANT ** It is possible the main title of the article (Lichen Planus) is not the name you expected. Please check the SYNONYMS listing the find the alternate names and disorder subdivisions covered by this article. Synonyms Csillag's Disease Guttate Morphea Guttate Scleroderma Lichen Planus Sclerosus Atrophicus Zambusch's Disease, also known as von Zambusch's Disease White Spot Disease Hallopeau's Disease I Lichen Ruber Planus General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lichen Planus is a recurrent, itchy, inflammatory eruption of the skin which is characterized by small separate, angular spots that may coalesce into rough scaly patches. It is often accompanied by oral lesions. Women are most commonly affected by the disorder. Symptoms Onset of Lichen Planus may be abrupt or gradual. The initial attack persists for weeks or months, and intermittent recurrences may be noted for years. The primary spots are 2 to 4 mm in diameter with angular borders, a violet color and a distinct sheen in cross-lighting. Rarely, blisters may develop. Moderate to severe itching may be present, and it often does not respond to treatment. The lesions are usually distributed symmetrically, most commonly on the joint surfaces of the wrists and on the legs, trunk, glans penis, and mucous membrane of the mouth and vagina. Lesions are occasionally generalized, but the face is rarely involved. The lesions may become large, scaly and warty (Hypertrophic Lichen Planus), particularly on the lower legs. During the acute phase, new spots may appear along a site of minor skin injury such as a superficial scratch. Hyperpigmentation and sometimes atrophy may develop as lesions persist. Rarely, a patchy scarring baldness of the scalp is present. The mucous membrane of the mouth is involved in approximately 50% of patients with Lichen Planus, often before skin lesions develop. The mucous membrane of the cheek, tongue margins and in areas without teeth show asymptomatic ill-defined bluish-white linear lesions; these lesions may be net-like at first and increase in size in an angular configuration. An erosive form may occur in which the patient complains of shallow, often painful recurrent ulcerations of the mouth. Chronic increases in severity and remissions are common. Causes The cause of Lichen Planus is not known. Some metals such as arsenic, bismuth, gold, or exposure to certain chemicals used in developing color-photography may cause an eruption indistinguishable from Lichen Planus. Quinacrine taken for long period of time may produce hypertrophic Lichen Planus of the lower legs as well as other dermatological and systemic disturbances. Affected Population Lichen Planus affects 6 to 7 times as many women as men. Onset usually occurs around 40 to 50 years of age. Children are rarely affected. Related Disorders Candidiasis is a chronic infection of the skin, nails, scalp, and mucous membranes. (For more information on this disorder, choose "Candidiasis" as your search term in the Rare Disease Database. Erythema Multiforme is an inflammatory eruption characterized by symmetric red, swollen or blistery lesions of the skin and mucous membranes. Therapies: Standard Asymptomatic Lichen Planus does not require treatment. If a drug or chemical is suspected to be the cause, its use should be discontinued. In symptomatic Lichen Planus, antihistamines may decrease itching. Localized itchy or hypertrophic areas may be treated with triamcinolone acetonide suspension diluted with saline and superficially injected into the lesion, or with occlusive corticosteroid therapy. Tretinoid solution may also be beneficial in treating Lichen Planus. For erosive oral lesions, viscous lidocaine mouthwashes before meals and triamcinolone acetonide in emollient dental paste may be helpful. Erosive oral lesions and widespread severely itchy skin lesions often require a systemic corticosteroid such as oral prednisone. Unfortunately, skin lesions may return after systemic prednisone has been stopped. In this case, continued low dosage of a systemic corticosteroid may be tried. Therapies: Investigational In a 1989 study of thirteen patients with Lichen Planus who had not responded to other therapies, the investigational drug Temarotene appeared to help most patients after four to six months of therapy. Temarotene (RO-15-0778) is manufactured by Hoffman LaRoche. More research is needed to determine the safety and effectiveness of this drug. Scientists are studying the use of Cyclosporine (a drug that suppresses the immune system, normally used by organ transplant patients) on Lichen Planus. Rubbed into the skin three times each day, preliminary tests indicate that cyclosporine may be an effective treatment in Lichen Planus. More study is needed, however, to determine long-term safety and effective treatment for this disorder. Cyclosporine is also being investigated as a mouth wash treatment for patients with oral Lichen Planus. Preliminary studies suggest that this drug may be an effective treatment for oral symptoms. It is also used experimentally on certain autoimmune disorders since modification of the immune system may stop antibodies from attacking normal tissue. The drug is manufactured by Sandoz drugs. This disease entry is based upon medical information available through August 1990 . Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lichen Planus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 2286. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2326-8. EFFECT OF TOPICAL CYCLOSPORINE RINSE ON ORAL LICHEN PLANUS, A Double-Blind Analysis, Drore Eisen, et al.; N Eng J Med (August 2, 1990, issue 323 ( )). Pp. 290-2394. Lichen Planus pagetitle 229: Lichen Planus 03940.TXT Copyright (C) 1986, 1988, 1989 National Organization for Rare Disorders, Inc. 252: Lichen Sclerosus _________________________ ** IMPORTANT ** It is possible the main title of the article (Lichen Sclerosus) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Lichen Sclerosus et Atrophicus White-spot disease Csillag's disease Hallopeau I Disease Guttate Morphea Guttate Scleroderma Von Zambusch Disease Information on the following diseases can be found in the Related Disorders section of this report: Scleroderma Lichen Planus Carcinoma of the Vulva Hyperplastic Dystrophy Paget's Disease of the Vulva General Discussion ** IMPORTANT ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lichen Sclerosus is a chronic skin disorder that most commonly affects women between forty and sixty years of age, although cases have been identified among younger females as well. This disorder is characterized by skin changes of the vulva, although other body sites can be affected as well. In some very rare cases, males have also been affected. Lichen Sclerosus can develop concurrently with other skin abnormalities. Symptoms Lichen Sclerosus usually affects the vulva in women. It is characterized by abnormal changes in the external genitalia and usually occurs between the ages of forty and sixty. Skin tissue often becomes thin, shiny, and parchment-like. Fissures, cracks, and purplish patches (ecchymoses) appear frequently. An eruption of white pimples, either separate or joined together, containing a central depression or a black plug of hard skin (visible microscopically) occurs. Swelling of the skin, overgrowth of the superficial skin layer (epidermal hyperkeratosis), atrophy, and mid-dermal inflammation are accompanied by soreness and itching. Atrophy and shrinkage of the skin of the vagina and vulva, often accompanied by a chronic inflammatory reaction in the deeper tissues (kraurosis vulvae) may also occur. Lichen Sclerosus is not a premalignant disease. In males, Lichen Sclerosus is characterized as disease of the foreskin of the penis although it may occur in other areas of the body. The opening in the end of the foreskin narrows and may become scarred. Discoloration and skin changes also occur. Causes The exact cause of Lichen Sclerosus is not known. It may be due to an autoimmune process, an injury, or may follow radiation therapy. Autoimmune disorders are caused when the body's natural defenses against foreign substances (antibodies) suddenly begin to attack healthy tissue. Some cases of Lichen Sclerosus may be linked to formation of antibodies to a thyroid protein (thyroglobulin), organ wall (parietal) cells, adrenal cells, or the thyroid. Some scientists believe that a genetic predisposition to Lichen Sclerosus exists. Affected Population Lichen Sclerosus predominantly affects females, usually between the ages of forty and sixty. Cases involving younger females and males have also been identified in the medical literature in the United States. Females are affected at a ratio of six to seven times more often than males. Related Disorders Symptoms of the following disorders can be similar to those of Lichen Sclerosus. Comparisons may be useful for a differential diagnosis: Scleroderma refers to a group of chronic disorders characterized by fibrosis, degenerative changes, vascular abnormalities, and excess collagen in the skin. Scleroderma is the chronic hardening and shrinking of the connective tissues of any part of the body, although the term literally means "hardening of the skin". Lichen Sclerosus can occur concurrently with Scleroderma. (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). Lichen Planus is a recurrent, itchy, inflammatory eruption of the skin which is characterized by small separate, angular spots that may merge into rough scaly patches. It is often accompanied by oral lesions. Women are most commonly affected by the disorder. (For more information on this disorder, choose "Lichen Planus" as your search term in the Rare Disease Database). Carcinoma of the Vulva is a malignant neoplasm associated with a number of disorders and is characterized by abnormal changes in skin layer cells of the vulva. Changes can resemble those of Lichen Sclerosus in very serious cases, but will continue to progress or may occur in other areas of the body as well. Cases of Lichen Sclerosus occurring in conjunction with this condition have been identified. Hyperplastic Dystrophy affecting the vulva represents an epithelial cell response to an injury and is usually accompanied by itching. It may be caused by ingestion of foods with high acid content or contact with a chemical such as a laundry detergent, body soap, hygiene sprays, dye in toilet paper, or other various substances that come in contact with the skin. Some fabrics or tight clothing may cause this condition, or there may be no apparent cause in some cases. Corticosteroid cream often clears up the skin symptoms. This medication may be used as a continued maintenance treatment in patients who have recurrences when applications are stopped. Therapies: Standard Treatment of Lichen Sclerosus consists of applications of testosterone to the affected areas in females. Surgical removal of affected skin layers may be of benefit in very severe cases. Therapies: Investigational Research on the use of the drug Etretinate (Tigason) as a treatment for Lichen Sclerosus is underway. However, more tests to determine safety and effectiveness are necessary before this drug can be recommended for use in all but the most severe cases of Lichen Sclerosus. This disease entry is based upon medical information available through February 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lichen Sclerosus, please contact: For more information on Lichen Sclerosis et Atrophicus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. P. 1419, 2341. Lichen Sclerosus pagetitle 252: Lichen Sclerosus 03941.TXT nFnFCopyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, 460: Lipodystrophy ** IMPORTANT ** It is possible the main title of the article (Lipodystrophy) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Barraquer-Simons Disease Koebberling-Dunnigan Syndrome Simons Syndrome Smith Disease Hollaender-Simons Disease Lawrence-Seip Syndrome Whipple Disease Leprechaunism Congenital Lipodystrophy Acquired Lipodystrophy Acquired Partial Lipodystrophy Insulin Lipodystrophy Cephalothoracic Lipodystrophy Unilateral Partial Lipodystrophy Familial Lipodystrophy Lipoatrophic Diabetes Mellitus Mesenteric Lipodystrophy Membranous Lipodystrophy Nasu Lipodystrophy Centrifugal Lipodystrophy Progressive Lipodystrophy Berardinelli-Seip Syndrome Seip Syndrome DISORDER SUBDIVISIONS Total Lipodystrophy Partial Lipodystrophy Localized Lipodystrophy Information on the following diseases can be found in the Related Disorders section of this report: Diencephalic Syndrome Cushing Syndrome Multiple Symmetric Lipomatosis Congenital Adrenal Hyperplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lipodystrophies are a group of rare metabolic disorders which can be either inherited or acquired. They are characterized by abnormalities in fatty (adipose) tissue associated with total or partial loss of body fat, abnormalities of carbohydrate and lipid metabolism, severe resistance to naturally occurring and synthetic insulin, and immune system dysfunction. These disorders are differentiated by degrees of severity, and by areas or systems of the body affected. Lipodystrophies can also be associated with other disorders and various developmental abnormalities. Symptoms Lipodystrophies may affect a small area of the body, a large part of the body, or the entire body. Extreme decreases of fat tissue over the entire body (Total Lipodystrophy) may be inherited or acquired. The inherited form is present at birth (congenital) and is characterized by marked absence of fat tissue in the face, trunk and limbs with prominent muscles. The acquired form usually begins during childhood or adulthood with loss of fatty tissue also noticeable in the face, trunk, and limbs. Congenital generalized Lipodystrophy is another inherited form of Lipodystrophy present at birth which is characterized by generalized absence of fat tissue under the skin, but without prominent muscles. Abnormal carbohydrate and lipid metabolism occur in both the inherited and the acquired forms. Leprechaunism is a rare inherited form of Total Lipodystrophy that includes characteristic facial features, growth retardation before birth, enlargement of sex organs, marked deficiency of fatty tissue under the skin, and other skin abnormalities. Metabolic problems can occur, and many affected infants exhibit extreme failure to thrive. (For more information on Leprechaunism, please choose "Leprechaun" as your search term in the Rare Disease Database.) Other symptoms of Total Lipodystrophies may include prominent-appearing muscles due to the lack of fat tissue under the skin, jaw muscles that appear to stand out, sunken cheeks, and a wrinkled forehead. The bones and muscles may be clearly outlined, and the abdomen is often distended. Skeletal growth and maturation appear to be accelerated in some cases. Mild to moderate high blood pressure may occur, and the liver tends to become enlarged (hepatomegaly). In some cases, metabolic abnormalities may not develop until Diabetes Mellitus first appears, usually after the onset of puberty. Excessive fatty acids in the blood (hyperlipidemia), and over-production of body heat (hypermetabolism) may then occur. The following conditions may be associated with forms of Total Lipodystrophy: Acanthosis Nigricans (a skin disorder characterized by gray or black darkening and thickening of the skin which occurs frequently in Lipodystrophy patients around the onset of puberty), Acromegaly (gigantism), excessive hair growth (hirsutism or hypertrichosis), eruptive yellowish spots on the skin, and thickened skin. Generalized hyperpigmentation, liver disease, central nervous system disorders, an enlarged heart, and enlargement of external genitalia may also develop. Mental retardation has been associated with a few cases of Lipodystrophy. (For more information on any of the above mentioned disorders or conditions, choose the appropriate name as your search term in the Rare Disease Database). Partial Lipodystrophy may be either inherited or acquired and is usually marked by the absence of fat tissue under the skin. Facial involvement, and wasting (atrophy) of the extremities or the trunk may or may not occur. The acquired form of partial Lipodystrophy is the most common form of Lipodystrophy, and is also known as "cephalothoracic progressive lipodystrophy". This condition is often progressive and may occur on only one side of the body. It has been associated with kidney disease, Diabetes Mellitus, hyperpigmentation, excessive hairiness (hirsutism), an enlarged liver, and the presence of excessive amounts of fatty acids in the blood (hyperlipemia). A cold sensation in involved areas, vague abdominal complaints or vomiting, frequent diarrhea, headaches, nervousness and fatigue are the major symptoms of Partial Lipodystrophy. A rapid heartbeat, lack of nerve conduction in fingers or toes resulting in tingling and/or coldness (Raynaud's phenomenon), and excessive sweating may also occur. Various conditions are associated with Partial Lipodystrophy including central nervous system dysfunction, Hyperthyroidism, Diabetes Mellitus, menstrual disorders, ovarian abnormalities, and underdevelopment of sex organs (hypogonadism). Liver enlargement and kidney dysfunction (which is more serious) have been observed in some patients. Loss of protein through the urine occurs more frequently in Partial Lipodystrophy than in other forms of Lipodystrophy. (For more information on Diabetes Mellitus, or any other disorders or conditions mentioned above, choose the appropriate name as your search term in the Rare Disease Database). When Partial Lipodystrophy occurs in conjunction with Diabetes Mellitus (Lipoatrophic Diabetes), it can be either inherited or acquired, and generalized or partial. The acquired form may begin during childhood or adulthood and may involve part of the body or the entire body. It often develops following an acute illness, but may arise without warning. Both the congenital and acquired forms are associated with abnormalities in carbohydrate metabolism, which can be manifested by low blood sugar (hypoglycemia), excessive loss of glucose through the urine (glucosuria), increased plasma insulin levels, and insulin resistance. The inherited form is characterized by fat atrophy of the limbs and trunk without involvement of the face and neck. The disorder usually begins at puberty but may not appear until middle age. Other conditions which may be associated with Lipoatrophic Diabetes include insulin resistance, high blood sugar (hyperglycemia), severely elevated levels of triglycerides in the blood (hypertriglyceridemia) and eruptive yellow nodules or plaques on the skin (xanthomas). In affected females, the vaginal labia are enlarged, and the ovaries tend to develop cysts. Acanthosis Nigricans (a skin disorder characterized by gray or black darkening and thickening of the skin which occurs frequently in Lipodystrophy patients around the onset of puberty), is usually present. Kidney and liver disease usually do not occur. Acquired Lipoatrophic Diabetes usually begins during adolescence or early adulthood. It resembles congenital Total Lipodystrophy due to the occurrence of Acanthosis Nigricans, excessive amounts of lipid in the blood (hyperlipidemia), and liver-spleen enlargement (hepatosplenomegaly) which may be due to cirrhosis of the liver. Insulin-resistant Diabetes Mellitus is almost always present, but neurologic, heart, and kidney abnormalities are usually absent. Partial Lipodystrophy associated with developmental abnormalities is inherited, non-progressive and involves the face and buttocks. It begins during infancy or early childhood, and is associated with vision problems (Rieger's Anomaly), short stature, underdevelopment of the midface, lack of normal hair growth on the scalp (hypotrichosis), and insulin-deficient Diabetes. Tooth abnormalities also occur. Localized Lipodystrophies have easily identifiable, multiple lesions often associated with inflammation of part of the abdominal wall (lymphocytic panniculitis). Mesenteric Lipodystrophy is a form of localized Lipodystrophy involving fat deposits in lymph nodes near the small intestines. It is also known as "mesenteric panniculitis", "lipogranuloma of the mesentery" or Whipple's Disease. (For more information on this disorder, choose "Whipple" as your search term in the Rare Disease Database.) Membranous Lipodystrophy is an inherited, localized lipodystrophy characterized by multiple cystic bone lesions on both sides of the body. Progressive neuropsychiatric symptoms including dementia, seizures, lack of muscle coordination (ataxia), tremors, and loss of consciousness may also occur. Additionally, the lens of the eyes may be involved. Centrifugal Lipodystrophy is a rare localized condition characterized by a small skin depression enlarging in a circular pattern. The depression is due to a marked wasting of fatty tissue just under the skin. Localized Lipodystrophies are usually characterized as small, well-defined points of wasting (atrophy) with or without other associated diseases. Causes Total Lipodystrophy is inherited as a recessive trait. The exact cause of Partial Lipodystrophy is not known, although researchers believe it may be either inherited, infectious, an immune system abnormality, or originating within nerve tissue (neurogenic dysfunction). It may also be associated with other disorders as a symptom. Lipoatrophic Diabetes may be either inherited as an autosomal recessive trait, or acquired. Localized Lipodystrophies are thought to be caused by inflammation of affected tissue. Mesenteric Lipodystrophy (Whipple's Disease) is thought to be caused by fat deposits in lymph nodes near the small intestine. (For more information on Whipple Disease, choose "Whipple" as your search term in the Rare Disease Database.) Membranous Lipodystrophy is inherited by an unknown mode of transmission. Centrifugal Lipodystrophy is caused by wasting in the fat tissue just under the skin for unknown reasons. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population All of the Lipodystrophies are rare disorders affecting more females than males. Related Disorders Symptoms of the following disorders can be similar to those of Lipodystrophy. Comparisons may be useful for a differential diagnosis: Diencephalic Syndrome begins during infancy and is characterized by profound emaciation after initial normal growth, hyperactivity, and euphoria. Skin pallor, low blood pressure, and low blood sugar levels are present. This disorder is usually caused by a brain tumor. Cushing Syndrome consists of a group of symptoms attributable to an excess of cortisol and certain other hormones from the cortex of the adrenal gland. It is usually caused by hormone secreting tumors of either the adrenal gland or the pituitary gland, or a hyperfunctioning pituitary gland. Sometimes hormone secreting tumors may develop in other organs. Cushing Syndrome occurs more frequently in females than in males, particularly women in their thirties, following a pregnancy. The prognosis is good if the causative tumors can be removed and/or drug therapy suppresses adrenal corticosteroid production. (For more information on this disorder, choose "Cushing" as your search term in the Rare Disease Database). Congenital Adrenal Hyperplasia (CAH) is a group of disorders resulting from defective synthesis of the corticosteroid hormones of the adrenal gland. The adrenal gland becomes enlarged because it tries to produce more and more of the hormones to compensate for their lack of effectiveness. The adrenal gland produces "male" sex hormones (androgens) in both males and females; because these are overproduced in certain forms of CAH, the external genitalia of some females with this disorder are masculinized to various degrees. Lack of glucocorticoids, especially cortisol, causes various kinds of metabolic problems. Lack of mineralocorticoids, primarily aldosterone, causes salt and water imbalances. In some cases, this can be fatal. (For more information on this disorder, choose "Adrenal Hyperplasia" as your search term in the Rare Disease Database). Therapies: Standard There is no known specific drug treatment for the Lipodystrophies. Long-term use of the dopamine receptor blocking drug Pimozide has not been effective. Diet therapy has been shown to be of some value in the control of metabolic problems. The use of small, frequent feedings and partial substitution of medium-chain triglycerides for polyunsaturated fats appears to be beneficial. Plastic surgery with implants of monolithic silicon rubber for correction of the deficient soft tissue of the face has been shown to be effective. False teeth may be useful in some cases for cosmetic reasons. Long-term treatment usually involves therapy for kidney and endocrine dysfunction. If the patient has a genetic form of Lipodystrophy, genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Late stages of some cases of Lipodystrophy with severe kidney disease may necessitate kidney transplantation. This experimental procedure is recommended only in cases where more conventional treatment has not shown clinical improvement. More research is necessary before the long-term effects of this therapy can be evaluated for patients with Lipodystrophy. Clinical trials are underway to study the pathogenic mechanisms and genetic defects in patients. Interested persons may wish to contact: Dr. Abhimanyu Garg University of Texas Southwestern Medical Center 5323 Harry Hines Blvd. Dallas, TX 75235 (214) 688-2895 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lipodystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Endocrine Society 9650 Rockville Pike Bethesda, MD 20014 (301) 530-9660 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 American Diabetes Association 1660 Duke Street Alexandria, VA 22314 1-800-232-3472 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 For genetic information and genetic counseling referrals, please contract: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ULTRASTRUCTURAL ABNORMALITIES OF THE LIVER IN TOTAL LIPODYSTROPHY: A. Klar, et al.; Arch Pathol Lab Med (February 1987, issue 111(2)). Pp. 197-199. FAMILIAL PARTIAL LIPODYSTROPHY: TWO TYPES OF AN X LINKED DOMINANT SYNDROME, LETHAL IN THE HEMIZYGOUS STATE: J. Kobberling, et al.; J Med Genet (April 1986, issue 23(2)). Pp. 120-127. LIPOLYSIS: PITFALLS AND PROBLEMS IN A SERIES OF 1,246 PROCEDURES: S. Cohen; Aesthetic Plast Surg (1985, issue 9(3)). Pp. 209-214. MEMBRANOUS LIPODYSTROPHY (NASU DISEASE): CLINICAL AND NEUROPATHOLOGICAL STUDY OF A CASE: M. Minagawa, et al.; Clin Neuropathol (Jan-Feb 1985, issue 4(1)). Pp. 38-45. Lipodystrophy jGpagetitle 460: Lipodystrophy 03942.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 454: Lissencephaly _________________________ ** IMPORTANT ** It is possible the main title of the article (Lissencephaly) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Lissencephaly Syndrome Agyria DISORDER SUBDIVISIONS Miller-Dieker Syndrome Norman-Roberts Syndrome Information on the following diseases can be found in the Related Disorders section of this report: HARD plus/minus-E Syndrome Neu-Laxova Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lissencephaly is a brain formation disorder characterized by the lack of normal convolutions or folds in the brain. It is thought to be inherited. Two major subdivisions including Miller-Dieker Syndrome and Norman-Roberts Syndrome have been identified, although as many as eight variants of Lissencephaly may exist. An abnormally small head and an unusual facial appearance, as well as abnormalities of the brain, kidney, heart and gastrointestinal tract may occur. This disorder may occur alone or as a symptom of other medical conditions. Symptoms Lissencephaly means "smooth brain". It is characterized by an abnormally small head, an unusual facial appearance, difficulty in swallowing, failure to thrive, and severe psychomotor retardation. Abnormalities of the hands, fingers or toes, muscle spasms, and seizures may also occur. Patients with the Miller-Dieker variant of Lissencephaly tend to have a high, narrow forehead, prominent back of the head, clouded corneas of the eyes, minor abnormalities of the ears, underdeveloped jaw, lips with a "carp mouth" appearance, and the skin of the forehead may be abnormally wrinkled. A low, sloping forehead and prominent bridge of the nose are often present in those with the Norman-Roberts variant of Lissencephaly. No chromosomal abnormality exists in the Norman-Roberts form of Lissencephaly. Excessive hair growth (hirsutism) may cover many areas of the body. Symptoms in males may include undescended testicles and hernias. Other developmental problems such as congenital heart disease, absence of one kidney, and closure of the normal opening in the part of the intestine called the duodenum (duodenal atresia) may also occur. Infants with Lissencephaly may have a bluish coloration of the skin (cyanosis), a feeble cry, and breathing difficulties while sleeping. Diminished muscle tone (floppiness) and feeding problems may develop. Initial lack of movement may gradually be replaced by seizures, rigidity, and spasms marked by an extreme backward bend of the entire body. Patients may not respond to stimuli, but may be severely hyperactive at times. Some infants may have enlarged livers and spleens, prolonged yellow discoloration of the skin (jaundice), and urinary tract infections. Causes Lissencephaly is thought to be inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Medical researchers have found specific chromosomal abnormalities in some Lissencephaly patients and speculate that this may be the cause of Miller-Dieker Syndrome. Symptoms may develop due to interruption of normal fetal brain development during the fourth month of pregnancy. Affected Population Lissencephaly is a very rare disorder beginning before birth which is thought to affect males and females in equal numbers. Related Disorders The following disorders can include Lissencephaly as a symptom. Comparisons may be useful for a differential diagnosis: HARD plus/minus-E Syndrome is an acronym for a combination of Hydrocephalus, Agyria (smooth brain), and Retinal Dysplasia. This disorder is also known as HARD Syndrome, Warburg Syndrome, Chemke Syndrome, Pagon Syndrome, Walker-Warburg Syndrome, Cerebroocular Dysgenesis, or COD. The "E" in the name is included when an abnormal opening of the skull termed "encephalocele" occurs. Neu-Laxova Syndrome is marked by intrauterine growth deficiencies and multiple defects present at birth. Abnormalities of the membrane tissue connection between the wall of the uterus and the fetus (placenta) occur. Additionally, the fetus is born with a small head, lack of normal convolutions and folds of the brain (Lissencephaly or "smooth brain"), and developmental abnormalities of the limbs, skin, and external genitalia. Therapies: Standard Treatment of Lissencephaly is symptomatic and supportive. Genetic counseling will be of benefit to patients and their families. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lissencephaly, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Lissencephaly Network 7121 Baer Rd. Ft. Wayne, IN 46809 (219) 747-1075 Dr. William B. Dobyns Indiana University School of Medicine Riley Hospital for Children Neurology Dept., Rm. N102 702 Barnhill Dr. Indianapolis, IN 46202 (317) 274-8747 Lissencephaly Network 7121 Baer Rd. Ft. Wayne, IN 46809 (219) 747-1075 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The Children's Brain Diseases Foundation for Research 350 Parnassus, Suite 900 San Francisco, CA 94117 (415) 566-5402 (415) 565-6259 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MILLER-DIEKER SYNDROME: LISSENCEPHALY AND MONOSOMY 17P: W.B. Dobyns, et al.; J Pediatr (April 1983, issue 102(4)). Pp. 552-558. LISSENCEPHALY AND PACHYGYRIA: AN ARCHITECTONIC AND TOPOGRAPHICAL ANALYSIS: R.M. Stewart, et al.; Acta Neuropathol (Berl) (1975, issue 31(1)). Pp. 1-12. SYNDROMES WITH LISSENCEPHALY. I: MILLER-DIEKER AND NORMAN ROBERTS SYNDROMES AND ISOLATED LISSENCEPHALY: W.B. Dobyns, et al.; Am J Med Genet (July 1984, issue 18(3)). Pp. 509-526. Lissencephaly tien! $ pagetitle 454: Lissencephaly 03943.TXT .Copyright (C) 1989, 1992 National Organization for Rare Disorders, Inc. 601: Listeriosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Listeriosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Listeria Infection Neonatal Listeriosis Perinatal Listeriosis Listeria Meningitis Disorder Subdivisions: Listeriosis of Pregnancy Granulomatous Infantiseptica Listeria Sepsis Listeria Meningoencephalitis Information on the following diseases can be found in the Related Disorders section of this report: Salmonellosis Botulism General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Listeriosis is a disorder caused by a bacterial infection (Listeria monocytogenes) transmitted to humans through contaminated food products, usually improperly pasteurized milk or cheese. Some cases have been transmitted through contact with other infected persons or animals. Cases range in severity from a transient carrier state with no apparent symptoms, to acute suddenly occurring (fulminant) spread of bacteria throughout the blood stream (septicemia). Many factors may contribute to development of symptoms which are not well understood. However, prompt recognition and treatment of the disease is necessary to avoid complications. Symptoms Listeriosis can occur in different forms including a carrier state with no symptoms (asymptomatic), listeriosis of pregnancy, granulomatous infantiseptica, listeria sepsis, listeria meningoencephalitis, and localized listeria infections. Most forms of Listeriosis are primarily characterized by flu-like symptoms. Listeriosis of pregnancy may exhibit no symptoms or may be marked only by a fever and back pain. This condition can be mistaken for a bacterial infection of the kidney (pyelonephritis). The diagnosis can be confirmed by a blood test. Most commonly occuring during the last three months of pregnancy, this infection can seriously affect the fetus, even though many cases have been documented without fetal damage. Granulomatous Infantiseptica results from Listeria infection transmitted from a pregnant woman to the fetus through the membrane connection (placenta) before birth. This form of Listeriosis is characterized by widespread abscesses and abnormal grainy tissue (granulation) in internal organs of the infant. Babies should be treated promptly if this disease is suspected. Cultures of blood, spinal fluid and intestinal discharges of the newborn infant (meconium) should be tested for the presence of the bacterial infection (listeria monocytogenes) to confirm the diagnosis. Skin and/or eye infections may be associated with Granulomatous Infantiseptica. Listeria Sepsis may occur in infants infected during vaginal delivery or in immunosuppressed adults. The presence of the bacteria (listeria monocytogenes) can be determined by a blood culture. Flu-like symptoms and lowered blood pressure (hypotension) occur. Marked reduction in blood platelets necessary for clotting (coagulation) with reduction in other clotting factors, occur as a result of widespread clotting inside veins (consumptive coagulopathy). Listeria Meningoencephalitis can occur in immunosuppressed patients or newborns. Persons with cirrhosis of the liver, or those with no apparent disease may also contract this form of Listeriosis. The onset may be gradual or acute and sudden, with lack of appetite (anorexia), abnormal tiredness (lethargy), behavioral changes and/or low-grade fever. Throat infection (pharyngitis), middle ear infection (otitis media), and cranial nerve palsies may be present. Signs of inflammation of the membranes surrounding the brain and spinal cord (meningitis) and inflammation of the brain (encephalitis) may also be found. This disorder may be mistaken for viral (aseptic) meningitis. Localized listeria infection may follow direct contact with the listeria monocytogenes bacteria on the skin or eyelids (conjunctiva). Other cases may result from the presence of the bacteria in circulating blood (bacteremia). In these cases inflammation of joints (arthritis), inflammation of bone marrow and adjacent bone (osteomyelitis), inflammation of the membrane lining the heart (endocarditis), or inflammation of the membrane lining the abdominal cavity (peritonitis) may occur. Causes Listeriosis is caused by the infectious bacteria "listeria monocytogenes". Several epidemics have been traced to ingestion of contaminated food products such as improperly pasteurized milk, cheese, unwashed vegetables, and raw meat. This common bacteria is found worldwide in soil, water, and dust, and in the meat of many wild and domestic animals. Fecal matter has been found to contain the bacteria, and it has been cultured in the human vagina in females and urethra in males. Infants have contracted the infection from infected mothers through the connecting membrane (placenta) or by the presence of the bacteria in the vagina at the time of delivery. Affected Population Listeriosis occurs most often in the summer months. It is found most commonly in patients whose immune system is suppressed, newborns, the elderly, and pregnant women. An epidemic in California in 1985 affected nearly 200 persons and was attributed to contaminated cheese manufactured in Mexico. According to the Centers for Disease Control in Atlanta, GA, approximately 1,850 cases occur and 425 deaths result from Listeriosis each year in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Listeriosis. Comparisons may be useful for a differential diagnosis: Salmonellosis is an infectious food-borne bacterial disorder caused by any of the ten identified types of salmonella bacteria. This disorder occurs worldwide. In the United States the major reservoirs of infection include poultry, reptiles and insects. Infection can be transmitted from animal-to-animal or human-to-human by ingestion of contaminated food or water, or by bulk handling of food in slaughter houses or processing plants. Salmonella infections can occur in epidemics usually attributable to specific food-related sources. This disorder is the most common cause of outbreaks of food-borne bacterial infection. Symptoms of Salmonellosis include acute gastrointestinal inflammation (gastroenteritis), fever, or localized infection with or without blood poisoning (septicemia). Botulism is an infection caused by a bacillus known as clostridia botulinum that is transferred to humans through contaminated food. Improperly canned low-acid fruits and vegetables, fish and fish products, or relishes and chili peppers are responsible for the vast majority of cases, which statistically occur most often during the summer and fall. Restaurant-associated outbreaks have also occurred. (For more information on this disorder, choose "Botulism" as your search term in the Rare Disease Database.) The first symptoms of botulism can appear between six hours and eight days after ingestion of the contaminated food, although most cases begin after eighteen to thirty six hours. The severity of the illness is inversely proportional to the length of the incubation period. Initial symptoms are gastrointestinal including nausea, vomiting, abdominal cramps or diarrhea. In some cases, blurred or double vision, disturbance of muscles used for speaking (dysarthria), or difficulty in swallowing (dysphagia) may occur. Muscle weakness, and in severe cases, breathing difficulty can also develop. Fatigue, dizziness, sore throat, and unusual sensations (paresthesias) have also been reported. Rapid treatment is required to avoid severe complications. Wound botulism has been caused by the presence of the toxin in soil which enters the body through breaks in the skin, or the sharing of contaminated needles by drug abusers. In these cases, the gastrointestinal problems do not occur. Therapies: Standard Prevention is the most important way to combat the spread of Listeriosis. Cook all foods of animal origin thoroughly. Cooking kills the organism that causes the disease. Keep hot foods hot, above 145 degrees F. Wash fruits and vegetables thoroughly before eating if eating raw. Keep cooked and uncooked foods apart. Do not eat or drink raw (unpasteurized) milk or milk products. Keep away from soft cheeses. Keep all cooking utensils washed as well as keeping your hands clean. This advice is importrant for avoiding other types of food poisoning as well as Listeriosis. This information is most important for those persons of high risk groups such as pregnant women and persons who are immunosuppressed. The treatment of choice for Listeriosis usually includes the antibiotic drugs penicillin, penicillin G, or ampicillin with or without aminoglycosides (gentamicin, tobramycin, amikacin, or netilmicin). Alternative therapies include Trimethoprim/Sulfamethoxazole, tetracycline, erythromycin, chloramphenicol, or cephalothin. Penicillin in conjunction with ampicillin and the aminoglycosides may be more effective than penicillin alone. Other treatment is symptomatic and supportive. Therapies: Investigational Scientists are studying the factors that lead to Listeriosis in humans including the degree of infectiousness, the severity of the resulting disease as well as the high susceptibility of some individuals to contract the illness. When these factors are better understood, measures may be developed to prevent and better treat patients. Additionally, new tools called "DNA Probes" to help prevent outbreaks of Listeriosis are under investigation. DNA Probes can detect the presence of the Listeria monocytogenes bacteria in food samples usually in only two days, whereas conventional methods take much longer. New pasteurization procedures are also being studied which may be able to help control or prevent the presence of the Listeria monocytogenes bacteria in milk and milk products. This disease entry is based upon medical information available through June 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Listeriosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy & Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Rd. NE Atlanta, GA 30333 (404) 639-3534 Food & Drug Administration (FDA) Office of Consumer Affairs 5600 Fishers Lane (HFE-88) Rockville, MD 20857 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1657-1658. PERINATAL LISTERIOSIS (EARLY-ONSET): CORRELATION OF ANTENATAL MANIFESTATIONS AND NEONATAL OUTCOME: M. Boucher, et al.; Obstet Gynecol (November 1986, issue 68(5)). Pp. 593-597. CLINICAL MANIFESTATIONS OF EPIDEMIC NEONATAL LISTERIOSIS: A.J. Teberg, et al.; Pediatr Infect Dis J (September 1987, issue 6(9)). Pp. 817-820. LISTERIA: BATTLING BACK AGAINST ONE 'TOUGH BUG': K.J. Skinner; FDA Consumer (July-August 1988). Pp. 12-15. Listeriosis 0pagetitle 601: Listeriosis 03944.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 472: Locked-In Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Locked-In Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms De-Efferented State Cerebromedullospinal Disconnection Pseudocoma Information on the following disorders may be found in the Related Disorders section of this report: Akinetic Mutism Quadriplegia Reye Syndrome with Total Paralysis Spinal Cord Injuries General Discussion ** IMPORTANT ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Locked-In Syndrome is characterized by complete paralysis except for voluntary eye movements. It is usually caused by lesions in the nerve centers which control muscle contractions, or a blood clot that blocks circulation of oxygen to the brain stem. Symptoms In the Locked-In Syndrome, all voluntary muscles controlling movement are paralyzed, except for those performing eye and eyelid movements. Patients with Locked-In Syndrome are conscious, but unable to speak. However, they can learn to communicate through an eye blink code. Causes Locked-In Syndrome is caused by lesions cutting across corticospinal and corticobulbar nerve tracts, which cut off all motor nerves except for those to the eye muscles. Tissue death may also occur on both sides of the body caused by lack of oxygen circulated to the internal capsule of the brain. In some cases the circulation may be blocked by a blood clot in a blood vessel in the brain stem. If circulation can be restored the patient's condition may improve. Affected Population Locked-In Syndrome is a very rare disorder. It affects males and females in equal numbers. Related Disorders Symptoms of the following disorders may resemble those of Locked-In Syndrome. Comparisons can be useful for a differential diagnosis: Akinetic Mutism is a disorder characterized by the patient appearing to be in an awake state with open eyes, but without communication. Immobility occurs as a result of lesions causing bilateral frontal lobe damage or destruction of the reticular activating system of the brain. The response of muscles to painful stimuli is poor. Quadriplegia (quadriparesis; tetraplegia) is a term denoting paralysis of all four limbs. Spinal cord injury is one of the more common causes of Quadriplegia. Reye Syndrome is a combination of acute brain disease (encephalopathy) and fatty degeneration of the abdominal organs, which tends to follow some acute virus infections such as flu or chicken pox, combined with certain precipitating agents such as aspirin. Seizures may occur. A complete recovery is possible. However, permanent brain damage, ranging from a slight decrease in I.Q. to total paralysis, may occur. (For more information on this disorder, choose "Reye" as your search term in the Rare Diease Database.) Spinal Cord Injury can be caused by trauma to the spine. Symptoms include retention of urine, possibly incontinence, reflex spasm below the site of the injury, and/or paralysis with sensory loss. Therapies: Standard Functional neuromuscular stimulation may help activate paralyzed muscles. Several devices to facilitate communication for people who cannot speak are on the market. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Locked-In Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References LOWER EXTREMITY FUNCTIONAL NEUROMUSCULAR STIMULATION IN CASES OF SPINAL CORD INJURY: G.R. Cybulski, et al.; Neurosurgery (July 1984: issue 15(1)). Pp. 132-146. ADAPTIVE EQUIPMENT FOR C6 QUADRIPLEGIA: AN APPROACH TO EFFECTIVE, SIMPLE, AND INEXPENSIVE DEVICES: J.R. Basford, et al.; Archives Phys Med Rehabil (December 1985: issue 66(12)). Pp. 829-831. RECOVERY FROM LOCKED-IN SYNDROME AFTER POSTTRAUMATIC BILATERAL DISTAL VERTEBRAL ARTERY OCCLUSION: J.M. Cabezudo, et al.; Surg Neurol (February 1986: issue 25(2)). Pp. 185-190. Locked-In Syndrome3 pagetitle 472: Locked-In Syndrome 03945.TXT )*)*Copyright (C) 1986, 1987, 1989, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 109: Lowe's Syndrome ** IMPORTANT ** It is possible that the main title of the article (Lowe's Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lowe's Disease Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Lowe-Bickel Syndrome Lowe-Terry-Mclachlan Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Fanconi II Syndrome Cystinuria Glaucoma Cataracts Vitamin D Resistant Rickets General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lowe's Syndrome is a rare inherited, metabolic disorder characterized by eye abnormalities such as congenital cataracts and glaucoma, bone malformations caused by Vitamin D resistant rickets, mental retardation and impairment of kidney function. Symptoms The symptoms of Lowe's Syndrome become apparent in early infancy. It affects only males (of all races), but is most common in those with fair coloring. The muscles may be flabby, the joints unusually flexible (hypermobility) and there may be little or no muscle reflexes (areflexia). Other symptoms of Lowe's Syndrome may include bowed legs (rickets), underdeveloped testes, a distention of the eyeballs due to fluid buildup (hydropthalmos), cataracts and glaucoma during infancy, a vertical fold on either side of the nose and between the eyelids (epicanthal folds), excess fatty tissue, wide ranging weight and temperature fluctuations, excessive activity level (hyperactivity), and mental retardation. There may be a high level of amino acids (aminoaciduria) and phosphates (phosphaturia) in the urine, a low level of ammonia, and an impairment of kidney function (tubular acidosis). The blood may be slightly acidic, and have elevated nitrogen levels and electrolyte abnormalities. Microscopic studies may show abnormalities in the kidneys, testes, eye and brain. Female carriers, who have a single gene for the disorder, sometimes have opacities in the lens of the eye. Causes Lowe's Syndrome is a metabolic disorder transmitted through X-linked recessive genes. Scientists believe they have located the gene responsible for the disease. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. In 1992 researchers located the gene on the X chromosome that causes Lowe's Syndrome. Prenatal diagnosis of Lowe's Syndrome may be possible with the discovery of the gene that causes the syndrome as well as a test to determine who is a carrier of the disease gene. Affected Population Lowe's Syndrome is very rare and affects only males. It is usually recognized in early infancy. Related Disorders Symptoms of the following disorders can be similar to those of Lowe's Syndrome. Comparisons may be useful for a differential diagnosis: Fanconi II Syndrome usually accompanies some other inherited disease, most commonly the inherited metabolic disease, cystinosis. It is characterized by abnormal renal proximal tubular function, particularly in the reabsorption of glucose, phosphates, amino acids, bicarbonate, uric acid, water, potassium and sodium. This form of Fanconi's Syndrome may result from drug toxicity, kidney transplantation, multiple myeloma and other malignancies, amyloidosis, certain other hereditary amino acid syndromes, and certain toxins. (For more information on this disorder, choose "Cystinosis" as your search term in the Rare Disease Database). Cystinuria is an inherited disorder characterized by abnormal intestinal and kidney transport of the dibasic amino acids cystine, lysine, and arginine. This results in excessive amounts of cystine stones in the kidney and urinary tract. Cystinuria is the most common of a group of disorders involving abnormal amino acid transport. (For more information on this disorder, choose "Cystinuria" as your search term in the Rare Disease Database). The following conditions can be associated with Lowe's Syndrome: Glaucoma is a disease of the eye characterized by increased intraocular pressure which results in changes to the optic nerve and may cause blindness. This disorder tends to occur in older people and is prevalent in the elderly. Cataracts are abnormalities in the lens of the eye which causes a loss of transparency (opacity). They can occur in either one or both eyes, and are quite common in the elderly. Congenital cataracts affect babies or young children and are considered to be a rare birth defect. Cataracts tend to cause cloudy vision, and in many cases may result in blindness when left untreated. Vitamin D Resistant Rickets is a condition caused by abnormal Vitamin D metabolism and lower than normal calcium in the blood. It occurs most often in infancy and early childhood and is characterized by a bending and distortion of the bones, a delayed closing of the fontanels of the head, pain in the muscles and excessive sweating. (For more information on this disorder, choose "Vitamin D Resistant Rickets" in the Rare Disease Database.) Therapies: Standard Treatment of Lowe's Syndrome consists of appropriate medications necessary to reduce or alleviate symptoms and to correct the behavioral and kidney (renal) problems. The low level of phosphorus in the blood of males with Lowe's Syndrome is treated with oral replacement of phosphorus alone, or phosphorus in combination with Vitamin D to prevent the onset of rickets. To prevent the onset of acidosis (accumulation of acid in the blood and bloody tissues), an alkaline solution is often prescribed. Surgery or drugs may be considered for treatment of eye problems such as cataracts and glaucoma; cataracts can be removed in infancy. Boys with this disorder may need to wear eyeglasses or contact lenses. In some cases, prenatal diagnosis may be possible. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational At the present time, studies are being conducted on the effectiveness of the drugs carnitine and thyrocalcitonin as possible treatments of Lowe's Syndrome. More research must be conducted to determine long-term safety and effectiveness of these drugs as a treatment for this disorder. Researchers at Cullen Eye Institute of the Baylor College of Medicine in Houston, Texas are studying inherited retinal diseases including Lowe's Syndrome. Families with at least two affected members and both parents living are needed to participate in this program. Other disorders included in the study are Leber's Congenital Amaurosis, Usher Syndrome (Types I and II), Macular Degeneration and Polymorphic Macular Degeneration, Lawrence-Moon-Biedl Syndrome, Rod Monochromacy (Complete Congenital Achromatopsia), Blue Cone Monochromacy (Congenital Incomplete X-linked Achromatopsia), Choroidermia, Hereditary X-linked cataracts, and other hereditary diseases with significant visual impact. Another important investigation on Lowe's Syndrome is currently underway at the National Institutes of Child Health and Human Development (NICHD) Health under the direction of Lawrence Charnas, M.D., NIH/National Institute of Child Health and Human Development, Bldg. 10, Rm. 8C-429, Bethesda, MD, 20892, (301) 496-6683). Current research strongly suggests that the Lowe's Syndrome gene controls production of a specific enzyme, inositol-polyphosphate-5-phosphatase. This enzyme discovery will open the door to further investigations into the metabolic defect and how it relates to various medical problems. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lowe's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Lowe's Syndrome Association 222 Lincoln Street West Lafayette, IN 47806 (317) 743-3634 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ORAL CARNITINE THERAPY IN CHILDREN WITH CYSTINOSIS AND RENAL FANCONI SYNDROME. w. Gahl et al.; J CLIN INVEST (February 1988, issue 81 (2)). Pp. 549-560. EFFECT OF THYROCALCITONIN ON RENAL REABSORPTION OF BICARBONATE. BIOMEDICINE (December 1979, issue 31 (8)). Pp. 230-233. THE OCULOCEREBRAL SYNDROME OF LOWE, Charnas, L. and Gahl, W; National Institutes of Health Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 1991. CLINICAL LABORATORY FINDINGS IN THE OCULOCEREBRAL SYNDROME OF LOWE, WITH SPECIAL REFERENCE TO GROWTH AND RENAL FUNCTION, Charnas, L., et al.; N Eng J Med, May 9, 1991, (issue 324). Pp. 1318-1325. Lowe's Syndrome &+pagetitle 109: Lowe's Syndrome 03946.TXT HCopyright (C) 1984, 1985, 1987, 1988, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 38: Lupus _________________________ ** IMPORTANT ** It is possible that the main title of the article (Lupus) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Systemic Lupus Erythematosus SLE Lupus Erythematosus Disseminated Lupus Erythematosus Information on the following diseases can be found in the Related Disorders section of this report: Scleroderma Polymyositis Dermatomyositis Osteoarthritis Sjoren's Syndrome Mixed Connective Tissue Disease (MCTD) Raynaud's Disease and Phenomenon General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lupus (Systemic Lupus Erythematosus) is an inflammatory disease of the connective tissue. Tissue damage occurs when the body's own immune system attacks healthy tissue causing inflammation and malfunction of various organ systems. Many different symptoms are associated with Lupus, and most patients do not get all of the symptoms. Symptoms Lupus is an inflammatory disease of the connective tissue. The initial symptom of Lupus is usually excessive fatigue. Other early symptoms may include fever, swollen glands, loss of appetite (anorexia), weight loss, headaches, loss of hair (alopecia), and swelling due to fluid retention (edema). Over 90 percent of people with Lupus experience inflammation and swelling of joints (arthritis), joint pain (arthralgia), and generalized muscle pain (myalgia). The knees, fingers, and wrist joints are the most likely to be affected by arthritis-like pain associated with Lupus. In some cases these arthritis symptoms may precede the onset of Lupus by months or even years. Frequently joints on both sides of the body are affected. The inflammation and joint pain associated with Lupus often moves from one area of the body to another, and generally does not destroy the cartilage or bones within the joints (non-erosive). Over 80 percent of people with Lupus experience dermatological (skin) problems. Light sensitive (photosensitive) rashes and other lesions may include: ring-shaped eruptions surrounded by a clear unaffected disk of skin (annular lesion), scaly red spots (discoid lesions), and/or thin walled blisters on the skin greater than one centimeter in diameter containing clear fluid (bullae). About 50 percent of people with Lupus will get a classic red (erythematous) "butterfly rash" across the bridge of the nose and cheeks. This rash may last for hours or days. Lesions of the mucous membranes that line the mouth and nose occur in about 35 percent of patients with Lupus. Lupus may also affect the vascular (blood vessel) system. Vascular involvement may include: a permanent increase in the diameter (dilation) of very small blood vessels (capillary telangiectasia), painfully cold fingers and toes caused by spasms of small vessels in response to cold (Raynaud's phenomenon), and/or inflammation of the blood vessels (vasculitis). Respiratory involvement may also occur with Lupus. Symptoms may include inflammation of the membranes (parietal pleura) that surround the lungs (pleurisy), a persistent cough, and inflammation of the lungs (pneumonitis). Lupus may also affect the heart. Cardiac abnormalities may include: inflammation of the membranous sac that surrounds the heart (pericarditis), inflammation of the muscles of the walls of the heart (myocarditis), and/or coronary artery disease. Lupus may affect the blood and its various components (hematological system). Symptoms may include: low levels of hemoglobin (anemia), an unusual decrease in the number of white blood cells (leukopenia), a decrease in the number of lymphocytes associated with the immune function of the body (lymphocytopenia), a decrease in the number of platelets (thrombocytopenia), and/or disorders of the lymph nodes or lymphatic vessels (lymphadenopathy). These abnormalities of the blood often occur early in the course of Lupus. People with advanced Lupus may sustain kidney and urinary system problems. Elevated levels of protein in the urine (proteinuria), inflammation of the kidneys (interstitial nephritis), and inflammation of the glomerulus (a cluster of blood vessels and nerve fibers) of the kidney (glomerulonephritis), may occur. Behavioral (neuropsychiatric) symptoms of Lupus may include depression, anxiety or psychosis. Seizures and stroke may also occur. Other neurological symptoms may include inflammation and degeneration of the nerve fibers outside the brain and spinal cord (peripheral neuropathy), and inflammation of the membrane that surrounds the brain and spinal cord (meningitis). A tentative diagnosis of Lupus can be made if 4 of the following criteria are present: arthritis involving 2 or more major joints, a rash on the cheeks (malar rash), discoid rash, oral or nasal ulcers, photosensitivity, pleuritis or pericarditis, positive LE cell test, presence of anti-DNA or anti-Sm, or a chronic false positive blood test for syphilis, increased levels of protein in the urine (proteinuria over 0.5 grams/day), cellular casts in the urine, seizures or psychosis, hemolytic anemia, leukopenia, lymphopenia, or thrombocytopenia, and/or an abnormal antinuclear antibody blood test (titer). People with Lupus sometimes experience a temporary flare-up or worsening of symptoms. Flare-ups may occur several times a year or once every few years. These episodes of severe symptoms may be triggered by such factors as stress, infections and exposure to sunlight. Causes Lupus is an autoimmune disease of the connective tissue. The cause of Lupus is unknown. Immunologic, genetic, environmental, hormonal and/or infectious factors may be involved. Autoimmune disorders are caused when the body's natural immune defenses (antibodies, lymphocytes, etc.), against invading organisms mistakenly attack healthy tissue. Scientists suspect a genetic basis for Lupus. Based on studies of twins, researchers have found that one that even if one twin has Lupus and the other is healthy, both twins manufacture abnormal antibodies. However, the healthy twin manufactures fewer antibodies than the twin with Lupus. Scientists do not yet understand the pattern of inheritance of the gene that makes people susceptible to Lupus. "Lupus-like" symptoms have also been induced by some drugs, including hydralazine, procainamide, isoniazid, methyldopa and chlorpromazine. Affected Population Lupus primarily affects females. Ninety percent of the cases of Lupus occur in women of any age although it commonly begins between the ages of 15 to 55 years. African American women are 3 times more likely to get Lupus than Caucasian women. Lupus is also commonly seen in Asian women. Estimates of the prevalence of Lupus in the United States vary considerably. However, the most reliable estimate is that Lupus affects approximately 50 in 100,000 people in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Lupus. Comparisons may be useful for a differential diagnosis: Scleroderma is a rare connective tissue disorder. The cause is unknown. Scleroderma is characterized by skin thickening, painfully cold fingers and toes caused by spasms of small vessels in response to cold (Raynaud's phenomenon), and a wide range of multi-system disorders. The early symptoms of Scleroderma may include: skin rashes, joint pain, morning stiffness, fatigue, and/or weight loss. As the disease progresses the skin becomes rigid, dry, and smooth and may be yellowish or ivory-colored (morphea). (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). Polymyositis is a rare connective tissue disease. The cause is unknown. Polymyositis is characterized by inflammatory degenerative changes in the muscle fibers and the supportive collegen of connective tissue. The major early symptom of this disorder is muscle weakness usually in the neck, trunk and shoulders. Eventually it may become difficult to rise from a sitting position, climb stairs, lift objects and/or reach overhead. Occasionally, joint pain and tenderness also occur. Other symptoms may also include: inflammation of the lungs (interstitial pneumonitis), difficulty breathing, coughing, painfully cold fingers in response to cold (Raynaud's phenomenon), digestive problems, and/or heart irregularities. (For more information on this disorder, choose "Polymyositis" as your search term in the Rare Disease Database). Dermatomyositis is a rare connective tissue disease. The cause is unknown. Dermatomyositis is identical to Polymyositis but with the addition of a characteristic red skin rash. These red rashes generally occur before the muscle weakness and usually appear on the face, knees, shoulders and hands. In some patients the skin changes caused by Dermatomyositis are similar to those of Scleroderma. The skin may become dry, hard and have a brownish color. (For more information on this disorder, choose "Dermatomyositis" as your search term in the Rare Disease Database). Osteoarthritis is a common autoimmune disease in which one or many joints undergo degenerative changes. Osteoarthritis is characterized by the loss of cartilage, deformities of bones and joints, and the thickening of the surrounding ligaments and membranes. Osteoarthritis develops when joint repair does not keep pace with bone degeneration. It may also occur as a result of trauma to the bone, aging, obesity, or other underlying disease. Symptoms include pain and joint stiffness particularly in the morning. Sjogren's Syndrome is a rare autoimmune disorder that is characterized by the degeneration of mucous-secreting glands, particularly those of the eyes and mouth. Sjogren's Syndrome can also be associated with rheumatoid arthritis and Lupus. The major symptoms of this disorder include a dry mouth (xerostomia) caused by decreased production of saliva, and dry eyes caused by decreased production of tears. Sjogren's Syndrome primarily affects women, and it often includes muscle pain and arthritis along with mucous membrane symptoms. (For more information on this disorder, choose "Sjogren" as your search term in the Rare Disease Database). Mixed Connective Tissue Disease (MCTD) is a rare inflammatory disorder of the connective tissue. The symptoms of this disorder overlap with those of Lupus (Systemic Lupus Erythematosus), scleroderma and polymyositis. Early symptoms may include: a fever of unknown origin, painfully cold fingers in response to cold (Raynaud Phenomenon), swollen hands, fatigue, and/or non-deforming arthritis. Arthritis occurs in almost every case of MCTD, but rarely results in deformities similar to those seen in Rheumatoid Arthritis. Muscle pain and skin rashes are also very common. These rashes may be similar to those in people with Lupus. (For more information on this disorder, choose "Mixed Connective Tissue Disease" as your search term in the Rare Disease Database.) Raynaud's Disease is a rare disorder characterized by spasms of the blood vessels in the fingers and skin and is considered to be a benign form of Raynaud's Phenomenon which occurs along with other systemic disorders. The major symptom of this disorder is a dramatic stark white pallor of the affected fingers and toes when exposed to cold, although a blue or red color may also be present from time to time. Other symptoms in the affected fingers and toes vary in response to cold and may include: a feeling of numbness or cold, severe aching or pain, tingling or throbbing, a sensation of tightness, "pins and needles," and/or a profound loss of sensation. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database.) Therapies: Standard The symptoms of Lupus such as joint pain and fever commonly respond to aspirin or other nonsteroidal anti-inflammatory drugs. Anti-malarial drugs such as hydorxychloroquine and chloroquine may treat skin rashes effectively. Precaution should be used when taking anti-malarial medications. Prolonged treatment with these drugs may cause side effects such as visual disturbances and nausea. The standard treatment for the more severe symptoms of Lupus is the administration of corticosteroid drugs. Prednisone or its equivalent are the most frequently used drugs in this category. Initial treatment and maintenance dosages vary according to what organ system or systems are involved, the patient's response to these medications, possible side effects and duration of use. Corticosteroid creams and lotions may effectively control some rashes and skin irritation that are caused by Lupus. These creams should be used with caution on the face and in the presence of skin infection. Since infections can be a major problem for people with Lupus, any infection should be treated immediately and aggressively with antibiotics. People with Lupus should avoid over-exposure to ultraviolet light. This includes exposure to direct sunlight. They should also avoid the use of oral contraceptives. For Lupus patients who experience severe kidney damage, hemodialysis may be prescribed when kidney function is lost. Therapies: Investigational Immunosuppressive therapies (drugs that suppress the immune system) for the treatment of people with Lupus are sometimes used in cases where the kidneys are involved. It is thought that suppression of the immune system will also suppress the formation of the antibodies which appears to cause the widespread destruction of tissue characteristic of Lupus. An important side effect of immunosuppressive drugs is an increased susceptibility to infections. However, some common immunosuppressive drugs that are sometimes used to treat Lupus include azathioprine and cyclophosphamide in combination with corticosteroids. Deflazort is an anti-inflammatory cortico-derivative drug that may cause less bone loss than prednisone with equal effectiveness. Research is underway to determine the possible long-term side effects and effectiveness of Deflazort for use as a treatment for Lupus. Researchers are studying the use of Cyclophosphamide for people with Lupus who have kidney or central nervous system involvement. Cyclophosphamide is a powerful drug used to treat certain types of cancer. Intravenous cyclophosphamide given once per month may enable people who have Lupus to significantly reduce their daily doses of prednisone. Further research is needed on this treatment. Studies are being conducted on the use of immune globulin as an intravenous treatment for Lupus. Further investigation is needed to determine its safety and effectiveness. Other experimental treatments include corticosteroids given intravenously and attempts at plasmapheresis to physically remove the damaging combinations of antibodies and associated proteins from the circulating blood of people with Lupus. Plasmapheresis is a method for removing unwanted substances (in this case antibodies and associated proteins) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is transfused back into the patient. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Lupus. Lymphoplasmapheresis (a similar procedure involving lymphocytes) is also being investigated as a possible treatment for people with advanced Lupus. An orphan drug is being tested in the treatment of Lupus Nephritis. The drug is monoclonal antibody for immunization against this type of nephritis. The drug is sponsored by: Medclone, Inc., 2435 Military Ave., Los Angeles, CA, 90064. This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lupus, please contact: The National Organization for Rare Disorders, Inc. (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Lupus Foundation of America, Inc. 4 Research Place, Suite 180 Rockville, MD 20850 (301) 670-9292 (800) 558-0121 Lupus Foundation of America, Inc. P.O. Box 2446 Victorville, CA 92393 Systemic Lupus Erythematosus Foundation, Inc. 95 Madison Avenue, Room 1402 New York, NY 10016 (212) 685-4118 The American Lupus Society 3914 Del Amo Blvd., Suite 922 Torrance, Ca 90503 (213) 542-8891 (800) 331-1802 The National Arthritis, Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1274. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 675-676. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1522-1530. SYSTEMIC LUPUS ERYTHEMATOUS, D.S. Pisetsky; Curr Opin Immunol (Dec 1991 3(6)): Pp. 917-923. TREATMENT OF SYSTEMIC LUPUS ERYTHEMATOSUS, M.L. Miller; Curr Opin Rheumatol (Oct 1991 3(5)): Pp. 803-808. SYSTEMIC LUPUS ERYTHEMATOUS, M.C. Hochberg; Rheum Dis Clin North Am (Aug 1990 16(3)): Pp. 617-639. ARTHRITIS AND RHEUMATISM: M. Reichlin, et al.; Arthritis and Rheumatism (April, 1992, issue 35 (4)). Pp. 457-64. 457-64. Lupus Ipagetitle 38: Lupus 03947.TXT $Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 414: Lyelles Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Lyelles Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms TEN Scalded Skin Syndrome Staphylococcal Scalded Skin Syndrome Dermatitis Exfoliativa Ritter-Lyell Syndrome Ritter Disease Lyell Syndrome Acute Toxic Epidermolysis Information on the following diseases can be found in the Related Disorders section of this report: Epidermolysis Bullosa Stevens-Johnson Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lyelles Syndrome is a serious skin disorder characterized by severe redness, blisters and peeling. Onset can begin during any stage of life. The infantile form may follow an infection. In adults the disorder is often caused by a drug reaction. Treatment of cases caused by infection may differ from those caused by drug reactions. Symptoms Symptoms of infantile or childhood onset Lyelles Syndrome may have a preliminary stage marked by fever, sore throat, eye inflammation (conjunctivitis), nasal discharge, vomiting, diarrhea and/or back pain. Development of crusted lesions around the nose or ear can be followed within twenty-four hours by intense redness in the same area. Skin redness may spread with tenderness, itching and separation of skin layers possibly developing within thirty-six to forty-eight hours. Skin may peel away in large sheets when touched. Blisters of various sizes may form along with peeling. The severity of peeling skin is often related to the degree of fever, severe discomfort, and loss of appetite. With healing, peeled areas may become dried and yellowish crusts may appear in affected areas. Large, easily broken blisters may be the first apparent symptom of adult onset Lyelles Syndrome. These blisters may be associated with other skin conditions such as Stevens-Johnson Syndrome (Erythema Multiforme Bullosum). Large sheets of skin can peel due to slight injury or simply touching an object and the mucous membranes may also be involved. Lyelles Syndrome usually progresses rapidly and within a few days may become severe. Fluid may be lost after extensive peeling occurs possibly leading to dehydration like that which occurs in burn victims. Scars resembling those of burns may develop when the skin begins to heal. Causes Lyelles Syndrome is often caused by bacterial (staphylococcal) infections when infants or children are affected. A common staphylococcal skin infection with blisters and crusting called Impetigo may also precede this disorder. Lyelles Syndrome can occur sporadically or in epidemic proportions in nurseries. An allergic reaction to a drug often causes symptoms to develop during adulthood. Very rarely, some childhood cases may be linked to a drug reaction. Affected Population Lyelles Syndrome affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Lyelles Syndrome. Comparisons may be useful for a differential diagnosis: Epidermolysis Bullosa (EB) is the name of a group of rare, hereditary skin disorders in which blisters develop on many areas of the body. Severe forms of the disease may include involvement of the mucous membranes, internal digestive tract and other organs. Infection must be guarded against and often scars cannot be avoided. (For more information on this disorder, choose "EB" as your search term in the Rare Disease Database). Stevens-Johnson Syndrome is another blistering skin disorder usually affecting children and young adults. It is marked by severe reddening and blisters on the skin and mucous membranes. A preliminary stage may last from one to two weeks consisting of fever, discomfort, coughing linked to an acute allergic reaction, sore throat, chest pain, vomiting, diarrhea, and joint or muscle pain. Lesions may then appear in the mouth and throat as well as on reproductive organs and the anal area. Progressive eye inflammation can lead to diminished vision. Crusting with bleeding may develop on the lips. Symptoms may heal within three to six weeks, but can recur at any time. The cause of this disorder is not known, although more severe cases are possibly associated with collagen disease, malignancy, contact dermatitis or drug reactions. Stevens-Johnson usually appears in the fall or spring, for reasons not yet understood by scientists. (For more inforation on this disorder, choose "Stevens-Johnson" as your search term in the Rare Disease Database.) Therapies: Standard Early treatment of infantile or childhood onset Lyelles Syndrome is recommended because of the rapid progression of symptoms. Antibiotic (e.g., penicillin) drug therapy may be helpful for treatment of infection. Fluid and electrolyte balance may need correction. Children should be watched carefully to prevent them from touching peeled or blistered areas which could possibly worsen the condition. Hospitalization and/or isolation may be required to assure a sterile environment. Healing may rapidly follow appropriate treatment. Treatment of adult onset Lyelles Syndrome is usually similar to therapy for severe burns. Contact with peeled skin surface should be minimal. Hospitalization with isolation in a sterile environment to minimize infection may be necessary. Severe loss of fluid and electrolytes may require replacement on an ongoing basis to prevent dehydration. If the disorder is caused by a drug reaction, systemic corticosteroids may be able to control the reaction but do not seem to improve skin symptoms. Blood poisoning and lung infections should be anticipated and treated promptly if they occur. Other therapy is symptomatic and supportive. Therapies: Investigational Experimental plasmapheresis may be of benefit in cases of Lyelles Syndrome caused by a severe reaction to drugs. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze possible side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Lyelles Syndrome. Research is underway in the areas of new wound healing drugs, antibiotics and the inhibition of blister formation at dermatology research centers listed in the Resources section of this report. This disease entry is based upon medical information available through October 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information on this disorder. Resources For more information on Lyelles Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA) 141 Fifth Ave., Suite 7-South New York, NY 10010 (212) 995-2220 D.E.B.R.A. 7 Sandhurst Lodge Wokingham Road Crowthorne Berkshire RG11 7QD England Tel: 0344 771961 CLINICAL FACILITIES University of Washington School of Medicine Department of Dermatology St. Louis, MO 63110 (314) 362-5000 Rockefeller University Department of Investigative Dermatology 1230 York Avenue New York, NY 10021 (212) 570-8000 Children's Hospital Department of Pediatric Dermatology Dermatology Clinic 34th and Civic Center Blvd. Philadelphia, PA 19104 (215) 596-9100 University of Pennsylvania Dermatology Clinic 34th and Spruce Street Philadelphia, PA 19104 (215) 622-2737 References IMPROVED BURN CENTER SURVIVAL OF PATIENTS WITH TOXIC EPIDERMAL NECROLYSIS MANAGED WITHOUT CORTICOSTEROIDS: P.H. Halebian, et al.; Ann Surg (November 1986, issue 204(5)). Pp. 503-512. PLASMAPHERESIS IN SEVERE DRUG-INDUCED TOXIC EPIDERMAL NECROLYSIS: D. Kamanabroo, et al.; Arch Dermatol (December 1985, issue 121(12)). Pp. 1548-1549. Lyelles Syndrome "%pagetitle 414: Lyelles Syndrome 03916.TXT Copyright (C) 1986, 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 260: Landau-Kleffner Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Landau-Kleffner Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Infantile Acquired Aphasia Information about the following disorder can be found in the Related Disorders section of this report: Epilepsy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Landau-Kleffner Syndrome is a disorder that occurs exclusively in childhood. It is primarily a speech disorder characterized by loss of ability to speak (aphasia), paroxysmal changes in the electroencephalogram (EEG) and occasionally, epileptic seizures. It may also be associated with an inability to recognize the significance of sounds (auditory agnosia). Symptoms The symptoms of Landau-Kleffner Syndrome include regression in previous speech development, paroxysmal changes in the electroencephalogram (EEG), and occasionally epileptic seizures. A slowly evolving disorder, it may also be associated with an inability to recognize the significance of sounds (auditory agnosia). This disorder seems to improve with time in 60 percent of cases, and be persistent in forty percent of the cases reported. In general, the prognosis seems to be more serious in cases of very early onset, and less serious in cases of later onset. Causes The cause of Landau-Kleffner Syndrome is unknown at this time. It is a neurological disorder affecting the speech centers of the brain. Affected Population Landau-Kleffner syndrome seems to be exclusively a childhood disease. Identified in 1957, only eighty cases of this extremely rare disorder had been reported as of 1982. Related Disorders Other childhood aphasias may have similar symptoms to Landau-Kleffner. The major difference is that the later Landau-Kleffner begins, the better the prognosis for language development. The aphasia tends to vary greatly among patients. The type and severity of language loss are related to the location and extent of the brain dysfunction. Disabilities can range from a temporary slurring of speech to total loss of communication. Epilepsy, which is a symptomatic component of Landau-Kleffner Syndrome, is a central nervous system disorder characterized by a sudden, aimless, and uncontrollable discharge of nerves in the brain. This discharge is sometimes preceded by an aura and is often characterized by a convulsion which is accompanied by the loss of consciousness. There are many different types of epilepsy. The disorder is not usually life-threatening and those affected can often lead a full and active life with medication. (For more information, choose "epilepsy" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Landau-Kleffner Syndrome is generally symptomatic and supportive. Antiepileptic drugs have not been consistently effective in all patients. Speech therapy may be of benefit in some cases. Neuroradiological investigations are useful for diagnostic purposes. Therapies: Investigational There is a need for more postmortem cerebral examinations to further research on Landau-Kleffner Syndrome. A new type of surgery is being investigated for children suffering from Landau-Kleffner Syndrome. The Subpial Transection may restore hearing and speech and eliminate seizures. For more information on this procedure, contact: Rush Presbyterian, St. Lukes Medical Center 1753 West Congress Parkway Chicago, IL 60612 (312) 942-5000 or (312) 942-5939 A new non-surgical treatment is being tested on Landau-Kleffner patients. Corticosteroid therapy, if given early, can in many cases restore speech and eliminate seizures. Further study is needed to determine the long-term safety and effectiveness of this treatment. This disease entry is based upon medical information available through July 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Landau-Kleffner Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 C.A.N.D.L.E. (Childhood Aphasia, Neurological Disorders, Landau-Kleffner Syndrome & Epilepsy) 4414 McCampbell Dr. Montgomery, AL 205-271-3947 NIH/National Institute of Deafness & Other Communication Disorders (NIDCD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 American Speech-Language-Hearing Association 10801 Rockville Pike Rockville, Maryland 20852 References THE LANDAU-KLEFFNER SYNDROME: INFANTILE "ACQUIRED" APHASIA, PAROXYSMAL ELECTROENCEPHALOGRAPHIC CHANGES AND EPILEPTIC SEIZURES: M. Dugas; Nouv Presse Med. (Dec. 18, 1982: 11(51)). Pp. 3787-91. (Published in French). AGE OF ONSET AND OUTCOME IN 'ACQUIRED APHASIA WITH CONVULSIVE DISORDER' (LANDAU-KLEFFNER SYNDROME): D.V. Bishop; Dev Med Child Neurol (Dec. 1985: 27(6)). Pp.705-12. CONTRIBUTION TO OUR KNOWLEDGE OF THE LANDAU AND KLEFFNER "ACQUIRED APHASIA WITH EPILEPSY" SYNDROME: A. Lorizio and A. Franciosi; Riv Patol Nerv Ment. (Sept.-Oct. 1982 103(5)). Pp. 201-214. (Published in Italian).G Landau-Kleffner Syndrome pagetitle 260: Landau-Kleffner Syndrome 03917.TXT Copyright (C) 1990, 1992 National Organization for Rare Disorders, Inc. 821: Laron Dwarfism _________________________ ** IMPORTANT ** It is possible that the main title of the article (Laron Dwarfism) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Pituitary Dwarfism II Laron Type Pituitary Dwarfism LTD Growth Hormone Receptor Deficiency Growth Hormone Receptor GHR Growth Hormone Binding Protein GHBP Information on the following diseases can be found in the Related Disorders section of this report: Coffin-Siris Syndrome Cockayne Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Laron Dwarfism is a rare genetic disorder that results from the body's inability to use the growth hormone that it produces. People with this disorder produce normal levels of growth hormone but the levels in their plasma may be high because the body does not use the hormone properly. The Laron form of dwarfism is characterized by very small stature, peculiar facial features, and high levels of growth hormone in plasma. Symptoms Laron Dwarfism is characterized by proportionate severe short stature which is evident at birth or soon after. Along with growth retardation there are delays in tooth eruption. There is also disproportion between the growth of the head and jaw, a saddle nose and deep set eyes. Sexual development is slow but it does occur. The usual age of sexual maturation in boys with Laron Dwarfism is about 22 years of age. In females with the disorder sexual maturation usually takes place between 16 to 19 years of age. Hands and feet are smaller than normal. Obesity and a high-pitched voice may also be present. There are always high levels of growth hormone in the plasma of people with Laron Dwarfism. A high percentage of patients have extremely low blood sugar levels (Hypoglycemia) which can have very serious consequences if not treated quickly by a doctor. Causes Laron Dwarfism is inherited as an autosomal recessive genetic disorder. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. The gene for Laron Dwarfism is thought by scientists to be located on chromosome 5p 13.1-p12. The defect in this gene causes growth hormone receptor defects which are not yet clearly understood. If growth hormone receptors are abnormal, the body cannot use the hormone to grow. The disorder may differ from family to family. Affected Population Laron Dwarfism affects six females to every two males. The disorder was first recognized in persons of Middle Eastern Jewish ancestry and in Mediterranean populations. However, Laron Dwarfism may occur in any ethnic group. The disorder is usually evident at birth or shortly after. Related Disorders Symptoms of the following disorders can be similar to those of Laron Dwarfism. Comparisons may be useful for a differential diagnosis: Coffin-Siris Syndrome is a disorder of unknown cause. It is present at birth and affects both sexes. It is chiefly characterized by feeding problems, frequent respiratory infections, and growth deficiencies. (For more information on this disorder, choose "Coffin-Siris" as your search term in the Rare Disease Database). Cockayne Syndrome is a progressive disorder which manifests itself during the second year of life. It is characterized by a hypersensitivity to sunlight and growth retardation. (For more information on this disorder, choose "Cockayne" as your search term in the Rare Disease Database). There are many disorders that can cause dwarfism. For more information on those disorders choose "Dwarf" as your search term in the Rare Disease Database or contact the Human Growth Foundation or the Short Stature Foundation noted in the resources section of this report. Therapies: Standard Treatment of Laron Dwarfism with human growth hormone (HGH) is not effective because the body cannot utilize the hormone to grow. If the patient has low blood sugar (Hypoglycemia) this condition must be treated to prevent further complications. Other treatment is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational The insulin-like growth factor 1, Somazom (somatomedin C), manuactured by Fujisawa Pharmaceutical's, is being studied as a treatment for Laron-type dwarfism. Early results are promising but further studies are necessary to determine the long-term safety and effectiveness of this type of treatment. Scientists continue their investigations into the causes and treatment of short stature and dwarfism. This disease entry is based upon medical information available through July 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Laron Dwarfism, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation 7777 Leesburg Pike P.O.Box 3090 Falls Church, VA 22043 703-883-1773 800-451-6434 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 NIH/The National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th ed.: Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 1426-1427. LARON DWARFISM AND MUTATIONS OF THE GROWTH HORMONE-RECEPTON GENE, Serge Amelm, et al.; N Eng J Med. (October 12, 1989, issue 321 (15)). Pp. 1426-1427. RECEPTOR-ACTIVE GROWTH HORMONE IN LARON DWARFISM. L.S. Jacobs, J Clin Endocrinol Metab, (February, 1976, issue 42 (2)). Pp. 403-406. CHARACTERIZATION OF THE HUMAN GROWTH HORMONE RECEPTOR GENE AND DEMONSTRATION OF A PARTIAL GENE DELETION IN TWO PATIENTS WITH LARON-TYPE DWARFISM. P.J. Godowski, et al.; Proc Nat Acad Sci USA, (October, 1989, issue 86 (20)). Pp. 8083-8087. PUBERTY IN LARON TYPE DWARFISM. Z. Laron, et al.; Eur J Pediatr, (June, 1980, issue 134 (1)). Pp. 79-83. Laron Dwarfism pagetitle 821: Laron Dwarfism 03918.TXT Copyright (C) 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 497: Larsen Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Larsen Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Sinding-Larsen-Johansson Disease Desbuquois Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Arthrogryposis Multiplex Congenita Ehlers-Danlos Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Larsen Syndrome is a multi-system genetic disorder that is present at birth. It is characterized by multiple bone dislocations and abnormalities, an extremely high arch of the foot, non-tapering cylindrically shaped fingers, and an unusual facial appearance. In some cases, short stature, heart problems, cleft palate or lips, deafness, or mental retardation may also occur. Symptoms Larsen Syndrome is present at birth and is characterized by a prominent forehead, an upturned nose with a depressed bridge, and slightly protruding wide-spaced eyes. Multiple bone dislocations can occur in the joints of the knees, elbows and hips. The fingers are usually non-tapering and cylindrically shaped. Feet are often clubbed with extremely high arches (pes cavus). Abnormalities of the spine may be present. In males, the testes may be undescended (cryptorchidism). Some patients may have webbed fingers (syndactyly), low-set ears, short stature, accumulation of fluid in the skull (hydrocephalus), a cleft or high arched palate or harelip, fingernail or toenail abnormalities, mild curvature of the spine (scoliosis), or softening of the bones (osteoporosis). Heart or respiratory difficulties may also be present at birth. Causes Larsen Syndrome can be inherited as either an autosomal dominant or recessive trait. Symptoms are thought to be caused by a generalized embryonic connective tissue (mesenchymal) disorder during gestation. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Larsen Syndrome is a very rare disorder which affects males and females in equal numbers. Approximately eighty cases had been identified in the medical literature of the United States as of June, 1983. Related Disorders Symptoms of the following disorders can be similar to those of Larsen Syndrome. Comparisons may be useful for a differential diagnosis: Arthrogryposis Multiplex Congenita is a congenital disorder characterized by reduced mobility of multiple joints at birth due to proliferation of fibrous tissue (fibrous ankylosis). The range of motion of the joints of all limbs is limited or fixed. The shoulders are bent inward and internally rotated, the elbows are extended, and the wrists and fingers are bent. The hips may be dislocated and are usually slightly bent, the knees are extended, and the heel is bent inward from the midline of the leg while the foot is bent inward at the ankle. (For more information on this disorder, choose "Arthrogryposis" as your search term in the Rare Disease Database.) Ehlers-Danlos Syndrome is an inherited connective tissue disorder. It is characterized by the ability of patients to flex their bodies beyond the normal range (articular hypermobility), to abnormally stretch their skin (hyperelasticity of the skin), and widespread tissue fragility; i.e. skin, blood vessels and other tissues can rupture from even minor injuries. (For more information on this disorder, choose "Ehlers-Danlos" as your search term in the Rare Disease Database). Therapies: Standard Treatment of infants with Larsen Syndrome consists of joint manipulation and corrective casts or traction. Later, orthopedic surgery may be recommended to correct skeletal dislocations or deformities. Reconstructive surgery is an appropriate treatment for heart valve and spinal abnormalities, and for cleft palate or harelip. Speech therapy may also be beneficial. Services which benefit physically handicapped or mentally retarded individuals and their families may also be of value. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disorder is namemd after Dr. Loren Larsen who first described the syndrome in the medical literature. Dr. Larsen is presently conducting genetic studies on families with Larsen Syndrome. Families who wish to participate in these studies are urged to contact: Loren J. Larsen, M.D. 437 Twin Lake Circle Santa Rosa, CA 95409 (707) 539-1438 This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Larsen Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 451, 1079. THE LARSEN SYNDROME, AUTOSOMAL DOMINANT FORM: G.I. Sugarman; Birth Defects (1975, issue 11(2)). Pp. 121-129. SPINAL DEFORMITIES IN LARSEN'S SYNDROME: J.R. Bowen, et al.; Clin Orthop (July-August 1985, issue 197). Pp. 159-163. SEVERE CARDIAC ANOMALIES IN SIBS WITH LARSEN SYNDROME: P. Strisciuglio, et al.; J Med Genet (December 1983, issue 20 6)). Pp. 422-424. CARDIOVASCULAR MANIFESTATIONS IN THE LARSEN SYNDROME: E.A. Kiel, et al.; Pediatrics (June 1983, issue 20 (6)). Pp. 422-424. SINDING-LARSEN-JOHANSSON DISEASE. IT'S ETIOLOGY AND NATURAL HISTORY: R.C. Medlar, et al.; J Bone Joint Surg [AM] (December 1978, issue 60 (8)). Pp. 1113-1116. Larsen Syndrome IEW #! &!pagetitle 497: Larsen Syndrome 03919.TXT "Copyright (C) 1986, 1987, 1989, 1990 National Organization for Rare Disorders, Inc. 104: Laurence-Moon-Biedl Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Laurence-Moon-Biedl Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Bardet-Biedl Syndrome Laurence-Biedl Syndrome Laurence-Moon Syndrome Laurence-Moon-Bardet-Biedl Syndrome Adipogenital-Retinitis Pigmentosa-Polydactyly Syndrome LMB Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Laurence-Moon-Biedl syndrome (LMB) is characterized by abnormalities of the retina, often leading to blindness, mental retardation, delayed or absent sexual maturation, obesity, and the presence of extra fingers or toes. Other anomalies or illness, especially of the kidney, may accompany these features. Almost 600 cases have been reported. Boys are affected twice as often as girls. The disorder is hereditary. Some researchers feel that Laurence-Moon-Bardet syndrome actually comprises two distinct syndromes, Laurence-Moon and Bardet-Biedl; the similarities between them, however, warrant considering them as one entity, at least until more information about how the various features develop becomes available. Symptoms The cardinal characteristics of Laurence-Moon-Biedl Syndrome are retinitis pigmentosa (a disorder of the pigmented, light sensitive layer of the eye), mental retardation, hypogonadism (underdevelopment of the testes and ovaries), obesity from childhood due an unusually good appetite, and polydactyly (presence of extra digits). (For more information on retinitis pigmentosa, choose "RP" as your search term in the Rare Disease Database.) The earliest manifestations usually appear in childhood and include evidence of mental retardation and diminished night vision. Central vision, then peripheral vision deteriorate. Three quarters of LMB patients are blind by their early twenties. Cataracts, strabismus, and unusually small eyes also frequently occur. The other cardinal symptoms do not progress. Associated with hypogonadism is delayed puberty and delayed development of secondary sex characteristics such as body hair, facial hair and voice changes in males, and breasts in females. Boys may have fat accumulations resembling breasts, and fail to develop sperm. Girls may fail to develop breasts or menstruate. Various other abnormalities are found in some patients. Neuromuscular abnormalities include ataxia, problems coordinating muscle movements, paralysis of certain muscles, and rigidity or spasticity. There may be diabetes and malformations of the skull or urogenital tract. Kidney disease is common including abnormalities of renal structure, function, or both. Very rarely, the individual has congenital heart defects. LMB can be diagnosed if retinal degeneration and three of the other cardinal features are present. Causes Laurence-Moon-Biedl Syndrome appears to be transmitted by one or two autosomal recessive genes on the same chromosome. Hypogonadism may be due to unresponsiveness of the gonads to sex hormones. The cause of the abnormal appetite is not known, although obesity is often associated with delayed sexual maturation. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Related Disorders Alstrom syndrome has similar symptoms, but there is no mental retardation, and there are no extra fingers or toes; instead, the individual has nerve deafness, baldness, and metabolic abnormalities. Weiss syndrome is characterized by deafness, hypogonadism, obesity, and mental retardation. Biemond II syndrome resembles LMB except that eye abnormalities consist of anomalies of the iris rather than retinitis pigmentosa. Prader-Willi syndrome is also characterized by hypogonadism, obesity, and neurological and intellectual/behavioral abnormalities; it does not include blindness, however. Hypogonadotropic hypogonadism and Froelich syndrome similarly exhibit delayed sexual development and obesity, but not visual problems. Therapies: Standard In Laurence-Moon-Biedl Syndrome, the testes do not seem to respond to sex hormones; thus, stimulation with gonadotropic hormones does not seem to be a useful treatment. Abnormalities of the hands and feet may be corrected surgically if desired. Where blindness is not complete, visual aids may be useful. The appetite may be difficult to manage, but a strictly controlled diet helps reduce weight. Therapies: Investigational Researchers at the Cullen Eye Institute of the Baylor College of Medicine in Houston, Texas are studying inherited retinal diseases including Laurence-Moon-Biedl Syndrome. Families with at least two affected members and both parents living are needed to participate in this program. Other disorders being included in the study are Leber's Congenital Amaurosis, Usher Syndrome (Types I and II), Macular Degeneration and Polymorphic Macular Degeneration, and Rod Monochromacy (Complete Congenital Achromatopsia). Other inherited retinal disorders of interest include blue cone monochromacy (Congenital Incomplete X-linked Achromatopsia), Choroideremia, the Oculo-Cerebro-Renal Syndrome of Lowe, Hereditary X-linked cataracts, and other hereditary diseases with significant visual impact. This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Laurence-Moon-Biedl Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Laurence-Moon-Biedl Support Network 76 Lincoln Ave. Purchase, NY 10577 (914) 251-1163 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For services to blind people, please contact: American Council of the Blind, Inc. (ACB) 1211 Connecticut Avenue, N.W., Suite 506 Washington, DC 20036 (202) 833-1251 (800) 424-8666 American Foundation for the Blind (AFB) 1010 Vermont Ave., NW, Suite 1100 New York, NY 10011 (202) 393-3666 American Printing House for the Blind P.O. Box 6085 Louisville, KY 40206-0085 (502) 895-2405 National Association for Parents of the Visually Impaired (NAPVI) 3329 Northaven Road Dallas, TX 75229 (214) 358-1995 National Library Service for the Blind and Physically Handicapped Library of Congress 1291 Taylor Street, NW Washington, DC 20542 (202) 287-5100 National Society to Prevent Blindness 79 Madison Avenue New York, NY 10016 (212) 684-3505 Vision Foundation, Inc. 2 Mount Auburn Street Watertown, MA 02172 (617) 926-4232 (800) 852-3029 (Toll-free in Mass.) References Bardet-Biedl syndrome and related disorders. Schachat, A.P. and Maumenee, I.H. Arch Ophthalmol 1982 Feb; 100(2):285-8. The Spectrum of Renal Disease in Laurence-Moon-Biedl Syndrome. J.D. Harnett, et al.; New England Journal of Medicine, (September 8, 1988, Vol. 319, (10)). Pp. 615-618).g# Laurence-Moon-Biedl Syndrome #pagetitle 104: Laurence-Moon-Biedl Syndrome 03920.TXT %Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 308: Leber's Congenital Amaurosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Leber's Congenital Amaurosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms LCA Leber's Amaurosis Congenital Retinal Blindness Congenital Retinitis Pigmentosa Leber's Congenital Tapetoretinal Degeneration or Dysplasia Congenital Absence of the Rods and Cones Information on the following diseases can be found in the Related Disorders section of this report: Retinitis Pigmentosa Congenital Stationary Night Blindness Macular Degeneration Flecked Retina Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leber's Congenital Amaurosis (LCA) is a retinal hereditary disorder of the eye. It is characterized by blindness at birth, roving eye movements, pupils that react poorly to light and dilate widely in the dark. Symptoms In Leber's Congenital Amaurosis (LCA) children are born with an absence of light-gathering cells (rods and cones) of the retina. A decrease in visual responsiveness at birth is the first sign of the disease. Often the eyes are deeply set and the child will rub the eyes to stimulate the retina to produce light (oculodigital stimulation). Absence or reduction of the electrical activity of the retina is always observed and is necessary for the diagnosis of LCA. This disorder is frequently associated with a family history of loss of eye muscle coordination. Causes Leber's Congenital Amaurosis is believed to be inherited as a recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Rarely, LCA has been inherited as a dominant trait. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Leber's Congenital Amaurosis can be seen as part of systemic disorders; for example, neurological dysfunction, kidney disease, and rarely chromosomal imbalance. Affected Population Leber's Congenital Amaurosis (LCA) is a rare eye disease that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Leber's Congenital Amaurosis. Comparisons may be useful for a differential diagnosis: Retinitis Pigmentosa (RP) is one of a group of inherited vision disorders causing degeneration of the retina. Initially this causes reduced vision but it can progress to blindness. Retinitis Pigmentosa may also be associated with other conditions such as deafness (Usher's Syndrome), central nervous system disorders, metabolic disorders and chromosomal abnormalities. Difficulty in seeing at night is usually the initial symptom of RP. Onset of symptoms usually first occur during young adulthood. (For more information on this disorder, choose "RP " as your search term in the Rare Disease Database). Congenital Stationary Night Blindness is a hereditary nonprogressive disorder that begins in infancy. The main symptom is limited vision in dim light, but patients often have normal color perception and/or clearness of central vision. It may take between two and eight hours for the eyes of affected individuals to adapt to darkness. The inside back of the eye is normal when examined by a doctor and the retinal vessels stand out with clarity. The optic disk (part of the optic nerve) is normal. The electrical activity is abnormal and is characteristic of this disease. Macular Degeneration is a more common hereditary eye (retinal) disorder with several subdivisions. This progressive disorder is characterized by a gradual loss of vision usually in both eyes. Symptoms of the various forms of Macular Degeneration may overlap with those of other degenerative retinal disorders. The primary symptoms of macular degeneration include perception of unclear shapes and blind spots within the field of vision. (For more information on this disorder, choose "Macular Degeneration" as your search term in the Rare Disease Database). Flecked Retina Syndrome is characterized by reduced clear vision and loss of night vision in some cases. To an ophthalmologist, the area behind the retinal vessels appears marked with white or yellow flecks. These flecks are similar to those found in persons with Leber's Congenital Amaurosis, but the retina is free from the abnormal markings characteristic of Leber's. The macula, retinal and choroidal vessels are usually not affected by this genetic disorder. Therapies: Standard Treatment of Leber's Congenital Amaurosis is symptomatic and supportive. Standard procedures such as genetic counseling, and services that benefit the sight impaired, can be helpful. Therapies: Investigational Researchers at the Cullen Eye Institute of the Baylor College of Medicine in Houston, TX, and The Hospital For Sick Children in Toronto, Canada are studying a group of inherited retinal disorders including Leber's Congenital Amaurosis. Families with at least two affected members whose parents are both living are needed to participate in the program. In Toronto, isolated cases are also being studied by DNA methods. For more information, please contact: Richard A. Lewis, M.D. Cullen Eye Institute Department of Ophthalmology Baylor College of Medicine One Baylor Plaza 6501 Fannin Street Houston, TX 77030 (713) 799-5942 Maria A. Musarella, M.D. F.R.C.S. (C) Hospital For Sick Children Research Institute 555 University Avenue Toronto, Ontario, Canada M5G 1x8 This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leber's Congenital Amaurosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 RP Foundation fighting Blindness 1401 Mt. Royal Avenue, 4th Floor Baltimore, MD 21217 (301) 225-9400 (800) 638-2300 TDD (301) 225-9409 (for the deaf) National Association for the Parents of the Visually Impaired, Inc. (NAPVI) P.O. Box 180806 Austin, Texas 78718 (512) 459-6651 National Association for the Visually Handicapped 305 East 24th Street New York, NY 10010 (212) 889-3141 American Foundation for the Blind (AFB) 1010 Vermont Ave., NW, Suite 1100 New York, NY 10011 (202) 393-3666 Richard A. Lewis, M.D. Cullen Eye Institute Department of Ophthalmology Baylor College of Medicine One Baylor Plaza 6501 Fannin Street Houston, TX 77030 (713) 799-5942 Maria A. Musarella, M.D. F.R.C.S. (C) Hospital For Sick Children Research Institute 555 University Avenue Toronto, Ontario, Canada M5G 1x8 (416) 598-7506 or (416) 598-7506 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References LEBER'S CONGENITAL AMAUROSIS. IS MENTAL RETARDATION A FREQUENT ASSOCIATED DEFECT? B. Nickel, et al.; Arch Ophthalmol (July, 1982, issue 100 (7)). Pp. 1089-1092. AMAUROSIS CONGENITA (LEBER), T. Hirose, et al,; Ann Aphthalmos (January, 1975, issue 7 (1)). Pp. 59-63. LEBER'S CONGENITAL AMAUROSIS. K. Mizuno, et al.; Am J Ophthalmol (January, 1977, issue 83 (1)). Pp. 32-42.G& Leber's Congenital Amaurosis &pagetitle 308: Leber's Congenital Amaurosis 03921.TXT %Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 534: Leber's Optic Atrophy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Leber's Optic Atrophy) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Leber's Disease Hereditary Optic Neuroretinopathy Leber's Optic Neuropathy Information on the following diseases can be found in the Related Disorders section of this report: Retinitis Pigmentosa Macular Degeneration Flecked Retina Syndrome Oguchi's Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leber's Optic Atrophy is a rare genetic disorder of the eye. It is characterized by a slow loss of vision usually beginning around the second decade, affecting one eye and then spreading to the other. Symptoms Leber's Optic Atrophy is noticed as the visual field begins to narrow. This disorder usually begins during the second decade of life, and continues with a progressive loss of vision. Leber's Optic Atrophy is marked by slow degeneration of cells in the retina (the part of the eye opposite the pupil). The involvement of the optic nerve follows causing severely reduced vision or blindness. The disorder may mimic glaucoma (an eye disorder caused by high pressure ) when accompanied by nearsightedness (myopia). Sometimes heart abnormalities may also occur. Causes Leber's Optic Atrophy is inherited as an autosomal recessive trait. It is also suggested that Leber's Disease may be an x-linked recessive trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Leber's Optic Atrophy can affect both males and females. However, males tend to be affected more often than females. Related Disorders Symptoms of the following disorders are similar to Leber Optic Atrophy. Comparisons may be useful for a differential diagnosis: Retinitis Pigmentosa (RP) is one of a group of inherited vision disorders causing degeneration of the retina. Initially this causes reduced vision but it can progress to blindness. Retinitis Pigmentosa may also be associated with other conditions such as deafness (Usher's Syndrome), central nervous system disorders, metabolic disorders and chromosomal abnormalities. Difficulty in seeing at night is usually the initial symptom of RP. Onset of symptoms usually occurs during young adulthood. (For more information on this disorder, choose "RP" as your search term in the Rare Disease Database). Macular Degeneration is a more common hereditary eye (retinal) disorder with several subdivisions. This progressive disorder is characterized by a gradual loss of vision usually in both eyes. Symptoms of the various forms of Macular Degeneration may overlap with those of other degenerative retinal disorders. The primary symptoms of macular degeneration include perception of unclear shapes and blind spots within the field of vision. (For more information on this disorder, choose "Macular Degeneration" as your search term in the Rare Disease Database). Flecked Retina Syndrome is characterized by reduced vision and impaired night vision in some cases. To an ophthalmologist, the area behind the retinal vessels appears marked with white or yellow flecks. These flecks are similar to those found in persons with Leber's Congenital Amaurosis, but the retina is free from the abnormal markings characteristic of Leber's. The macula, retinal and choroidal vessels are usually not affected by this genetic disorder. Oguchi's Disease is also known as hereditary night-blindness and may be associated with vitamin A deficiency. This nonprogressive disorder occurs predominately in Japan and usually begins in infancy. The main symptom is limited vision in dim light, but patients often have normal color perception and/or clearness of central vision. It may take between two and eight hours for the eyes of affected individuals to adapt to darkness. The inside back of the eye appears gray or golden in color when examined by a doctor and the retinal vessels stand out with clarity. The optic disk (part of the optic nerve) is normal. Therapies: Standard Services which benefit the sight-impaired may be helpful to Leber's patients. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leber's Optic Atrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Eye Research Institute of Retina Foundation 20 Staniford St. Boston, MA 02114 (617) 742-3140 National Federation of the Blind 1800 Johnson Street Baltimore, MD 21230 (301) 659-9314 (800) 638-7518 American Council of the Blind, Inc. (ACB) 1155 - 15th St., NW, Suite 720 Washington, D.C. 20005 (202) 467-5081 (800) 424-8666 American Foundation for the Blind (AFB) 15 W. 16th St. New York, NY 10011 (212) 620-2000 Regional offices: Atlanta, GA (404) 525-2303 Chicago, IL (312) 245-9961 Dallas, TX (214) 352-7222 San Francisco, CA (415) 392-4845 Vision Foundation, Inc. 818 Mt. Auburn Street Watertown, MA 02172 (617) 926-4232 1-800-852-3029 (Inside Massachusetts) American Council of Blind Parents 6212 W. Franklin Street Richmond, VA 23226 (804) 288-0395 Guiding Eyes for the Blind, Inc. 611 Granite Springs Rd. Yorktown Heights, NY 10598 (914) 245-4024 (Information on Guide Dogs) National Association for Parents of the Visually Impaired, Inc. P.O. Box 180806 Austin, TX 78718 (512) 459-6651 National Association for the Visually Handicapped (NAVH) 305 East 24th Street New York, NY 10010 (212) 889-3141 or 3201 Balboa Street San Francisco, CA 94121 (414) 221-3201 National Library Service for the Blind and Physically Handicapped Library of Congress 1291 Taylor Street NW Washington, DC 20542 (202) 287-5100 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1411. LEBER'S HEREDITARY OPTIC NEURORETINOPATHY, A MATERNALLY INHERITED DISEASE. A GENEALOGIC STUDY IN FOUR PEDIGREES: E.K. Nikoskelainen, et al.; Arch Ophthalmol (May, 1987 issue: 105 (5)). Pp. 665-671. THE CLINICAL FINDINGS IN LEBER'S HEREDITARY OPTIC NEURORETINOPATHY. E.K. Nikoskelainen, Trans Ophthalmol Soc UK (1985, issue: 104 (Pt 8)). Pp. 845-852. FUNDUS FINDINGS IN LEBER'S HEREDITARY OPTIC NEURORETINOPATHY. E.K. Nikoskelainen, et al.; Ophthalmic Paediatr Genet (February, 1985 issue: 5 (1-2)). Pp. 125-130. Leber's Optic Atrophy &pagetitle 534: Leber's Optic Atrophy 03922.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 563: Legg-Calve-Perthes Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Legg-Calve-Perthes Syndrome) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Coxa Plana Osteochondrosis Deformans Juvenilis Capital Femoral Epiphysis Perthes Disease Pseudocarolgia Quiet Hip Information on the following diseases can be found in the Related Disorders section of this report: Ankylosing Spondylitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Legg-Calve-Perthes Syndrome is a rare disease affecting the hip joint. Abnormalities in bone growth early in life may result in permanent deformity of the hip joint several years later. Symptoms Legg-Calve-Perthes symptoms may appear without warning. Onset is usually between the ages of 6 and 12 years with mild aching in the hip followed by inability to move the affected leg normally. Pain in the hip may eventually become more intense and muscle spasms can develop. While the pain usually resolves itself, the bone may become shorter than normal, causing a noticeable limp. Causes Legg-Calve-Perthes is thought to be a genetic disorder inherited through autosomal dominant genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Legg-Calve-Perthes is characterized by atrophy of the hip joint and shortening of the long bone in the leg from the hip to knee (femur). Damage to the developing bone is caused by reduced blood supply to the joint part of the femur. The bone does not grow at a normal rate. Affected Population Legg-Calve-Perthes Syndrome is a rare bone disorder affecting males more often than females. Related Disorders Symptoms of the following disorders can be similar to those of Legg-Calve-Perthes Syndrome. Comparisons may be useful for a differential diagnosis: Ankylosing Spondylitis usually begins gradually with episodes of low back pain, especially in the tailbone and hips (sacroiliac) and lower back (lumbar) regions. Pain may occur around the sciatic nerve, radiating from the back into the buttock and down a lower extremity. Well-defined morning back stiffness often occurs. Symptoms commonly become progressively worse, spreading from the low back frequently into the mid-back and occasionally the neck. The hips and shoulders may be affected at any stage of the disease. Symptoms usually begin between the ages of 10 and 35 years. It is now believed that the incidence of the disease is probably equal in males and females. However, some sources indicate that males may be affected three times as often as females. (For more information on this disorder, choose "Ankylosing Spondylitis" as your search term in the Rare Disease Database). Therapies: Standard Patients with Legg-Calve-Perthes Syndrome usually find that pain can be reduced with anti-inflammatory drugs and analgesics. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Legg-Calve-Perthes Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Arthritis Foundation 1314 Spring St, NW Atlanta, Ga. 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 453. LONG-TERM FOLLOW-UP OF LEGG-CALVE-PERTHES DISEASE; M.P. McAndrew, et al; J Bone Joint Surg [AM] (July, 1984, issue 66 (6)). Pp. 860-869. LEGG-CALVE-PERTHES DISEASE IN A FAMILY: GENETIC OR ENVIRONMENTAL: M. O'Sullivan, et al.; Clin Orthop (October, 1985, issue 199). Pp. 179-181. LESIONS OF THE FEMORAL NECK IN LEGG-PERTHES DISEASE: F.N. Silverman, AJR (June, 1985, issue 144 (6)). Pp. 1249-1254. Legg-Calve-Perthes Syndrome kingO pagetitle 563: Legg-Calve-Perthes Syndrome 03923.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 193: Legionnaire's Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Legionnaire's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Legionellosis Pontiac Fever General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Legionnaire's Disease is recognized as an acute respiratory pneumonia caused by the aerobic gram-negative microorganism, Legionella pneumophila, and other species. This microorganism may also affect other body systems. Afflicted patients may have pulmonary (lung and bronchi), gastrointestinal tract, and central nervous system complications. Renal insufficiency may occur occasionally and can be severe enough to require dialysis. Symptoms The primary symptoms associated with Legionnaire's Disease appear to be pneumonia including a shaking chill, sharp pain in the involved side of the chest, cough with sputum or phlegm production, fever of up to 105 degrees F, and, in some cases, rapid and painful respiration. Abdominal pain, diarrhea, neurological signs such as headache, confusion, lethargy or agitation may also be present. Laboratory data may include an abnormal liver function test, low phosphorus in the blood (hypophosphatemia), blood in the urine (hematuria), and low blood sodium (hyponatremia). Causes Legionnaire's Disease is caused by the bacterium Legionella Pneumophila which has been isolated from cooling towers, evaporative condensers and air conditioning systems where there have been outbreaks of disease. However, it has also been found is sites where there has been no association with the illness. While the peak period of occurrence for the disorder is during the late summer months, Legionnaire's Disease may occur throughout the year. Affected Population Persons 50 years of age and older are at increased risk of acquiring Legionnaire's Disease. Related Disorders Pneumonia caused by Streptococcus pneumoniae is characterized by breathing difficulties, abdominal pain, diarrhea, and some neurological difficulties. Abnormal liver function test results, hypophosphatemia (low phosphorus level in the blood), and hematuria (blood in the urine) may also be present. Hyponatremia (low blood sodium) within five days of the onset of pneumonia occurs more frequently in Legionnaire's Disease than in other forms of pneumonia. Pontiac fever can be caused by the same Legionella species responsible for Legionnaire's Disease. This disorder is characterized by high fever, chills, myalgias (muscle pain) and headache, but without pneumonia or cough which are present in Legionnaire's Disease. Pontiac Fever also has a shorter incubation period (5-66 hours) than Legionnaire's Disease (1-18 days). Therapies: Standard Patients afflicted with Legionnaire's Disease may develop respiratory compromise requiring artificial ventilation and positive end expiratory pressure respirators to maintain adequate oxygenation. Erythromycin is the drug treatment of choice. In more severe cases, rifampin may be used in conjunction with erythromycin. Tetracycline may be substituted if the patient is allergic to erythromycin. While the outbreak of Legionnaire's Disease has only occasionally been associated with a contaminated water system, appropriate treatment of the water system is recommended if this is the case. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Legionnaire's disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1570. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 665. Legionnaire's Disease pagetitle 193: Legionnaire's Disease qZ+\+\+ 03924.TXT pagetitle 392: Leigh's Disease @*!*Copyright (C) 1987, 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 392: Leigh's Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Leigh's Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Subacute Necrotizing Encephalopathy SANE SNE Infantile Subacute Necrotizing Encephalopathy Adult Subacute Necrotizing Encephalopathy Encephalomyelopathy Pyruvate Decarboxylase Deficiency Leigh Necrotizing Encephalopathy PC Deficiency Ataxia with Lactic Acidosis II Information on the following diseases can be found in the Related Disorders section of this report: Wernicke Encephalopathy Kuf Disease (Neuronal Ceroid Lipofuscinosis, Adult form) Batten Disease (Neuronal Ceroid Lipofuscinosis, Juvenile form) Tay-Sachs Disease Sandhoff Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leigh's Disease is a genetic metabolic disorder characterized by lesions of the brain, spinal cord, optic nerve and in some cases, an enlarged heart. The disorder is usually first diagnosed during infancy but may begin later. Symptoms during infancy may include low body weight, slow growth, tremors, skin changes and interrupted breathing patterns. Progressive neurological disturbances, mental retardation, slurred speech and loss of motor coordination (ataxia) may occur in cases beginning during or after infancy. Abnormalities of eye movement and other vision problems may develop in cases with later onset. Symptoms Symptoms of some forms of Leigh's Disease resemble those of a thiamine deficiency disorder known as Wernicke Encephalopathy. Symptoms of all forms of the disorder may vary from case to case. Typically, lesions may be found in areas of the brain, spinal cord and optic nerve. These lesions may cause progressive loss of neurological function, mental retardation, tremors and/or loss of motor coordination (ataxia). The heart may be enlarged in some cases. Vision problems may include unusual eye movements, slowed focusing and/or loss of clear vision (optic atrophy). In some infants, breathing disturbances may necessitate continuous monitoring. Causes Leigh's Disease is thought to be inherited as an autosomal recessive trait. Lactic acid, pyruvate, and alanine may be found in abnormal amounts in the blood. Some cases have been associated with a defect in the enzyme pyruvate carboxylase. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population In 80% of known cases Leigh's Disease affects infants. The remaining 20% first show symptoms as late as adulthood. Both sexes are affected by Leigh's Disease. Leigh's Disease is very rare. Related Disorders The following disorders have similar symptoms to Leigh's Disease. Comparisons may be useful for a differential diagnosis: Wernicke Encephalopathy is a degenerative brain disorder characterized by a deficiency of thiamine. It is marked by loss of coordination (ataxia) and apathy, confusion, disorientation or delirium. Various vision dysfunctions may also develop. This disorder often occurs in conjunction with Korsakoff Syndrome which involves a Vitamin B1 (thiamine) deficiency usually caused by alcoholism. Wernicke Encephalopathy can be severely disabling and life threatening if it is not recognized and treated early. (For more information on this disorder, choose "Korsakoff" as your search term in the Rare Disease Database.) Batten Disease is a hereditary lipid storage disorder transmitted as a recessive trait. It is characterized by rapidly progressive vision failure (optic atrophy), deterioration of intellect, seizures, loss of muscular coordination (ataxia) and a backward lateral curvature of the spinal column (kyphoscoliosis). Occurring mostly in white families of Northern European Scandinavian ancestry, Batten Disease usually begins between five and seven years of age. (For more information on this disorder, choose "Batten" as your search term in the Rare Disease Database). Kuf Disease is characterized by neurologic symptoms which may mimic mental illness, and dermatologic abnormalities resembling Ichthyosis. Symptoms of Kuf Disease may be linked to excess accumulations of pigments (lipofuscins) dissolved in fatty tissues that are found throughout the central nervous system. Kuf Disease, Batten Disease and Bielchowsky Disease are different forms of the same disorder and are differentiated by the age of onset. Major forms of this disorder may be difficult to distinguish diagnostically from other progressive degenerative diseases of the central nervous system. (For more information on this disorder, choose "Kuf" and "Ichthyosis" as your search terms in the Rare Disease Database). Tay-Sachs Disease is a genetic disorder in children that causes the progressive destruction of the central nervous system. It is generally found among children of Eastern European Jewish heritage and becomes clinically apparent at about six months of age. Infants with Tay-Sachs Disease appear normal at birth and seem to develop normally until the age of about six months. The first signs of the disease vary and become evident at different ages. These signs may include slowed development, loss of peripheral vision, abnormal startle response, progression of feeding difficulties, weakness, restlessness and cherry spots on the retina. At the age of one year, recurrent convulsions, loss of previously learned skills and muscle coordination, blindness, mental retardation, flaccidity and/or paralysis may occur. This disorder is inherited as a recessive trait. (For more information on this disorder, choose "Tay Sach" as your search term in the Rare Disease Database). Sandhoff Disease is a variant of Tay-Sachs Disease. It is clinically indistinguishable from Tay-Sachs and is found in people of all ethnic backgrounds. (For more information on this disorder, choose "Sandhoff" as your search term in the Rare Disease Database). Therapies: Standard Treatment for Leigh's Disease with pyruvate carboxylase deficiency includes high doses of thiamine and lipoic acid which may improve some symptoms. Genetic counseling is recommended for families of patients with this disorder. Services which benefit vision-impaired people may be helpful. Other treatment is symptomatic and supportive. Therapies: Investigational Research is ongoing into possible causes of biochemical and genetic factors which may contribute to the development of Leigh's Disease. Clinical trials are underway to study stable isotope technique in glucogenesis and Krebs cycle and patient response to treatment. Interested persons may wish to contact: Dr. W.N. Paul Lee Harbor University of CA, Los Angeles Medical Center Dept. of Pediatrics, Box-16 1000 W. Carson St. Torrance, CA 90509 (213) 533-2503 This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leigh disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Leigh's Disease Foundation, Inc. 613 Childs St. Corinth, MS 38834-4810 (601) 287-8069 Lactic Acidosis Support Group P.O. Box 480282 Denver, CO 80248 (303) 287-4953 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Children's Brain Diseases Foundation for Research 350 Parnassus Suite 900 San Francisco, CA 94117 (415) 566-5402 (415) 565-6259 International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 For information relating to vision problems, contact: NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 American Council for the Blind, Inc. (ACB) 1211 Connecticut Avenue NW, Suite 506 Washington, D.C. 20036 (202) 833-1251 (800) 424-8666 American Foundation for the Blind (AFB) 11010 Vermont Ave., NW, Suite 1100 New York, NY 10011 (202) 393-3666 American Printing House for the Blind P.O. Box 6085 Louisville, KY 40206-0085 (502) 895-2045 National Association for Parents of the Visually Impaired (NAPVI) 3329 Northaven Road Dallas, TX 75229 (214) 358-1995 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 1225.... Leigh's Disease 03925.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 362: Leiner Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Leiner Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Erythroderma Desquamativum, in infants Erythrodermia Desquamativa Leiner Leiner-Moussous Desquamative Erythroderma Severe Infantile Dermatitis Information on the following diseases can be found in the Related Disorders section of this report: Ritter Disease, also known as Dermatitis Exfoliative Neonatorum Sweet Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leiner Disease is a skin disorder which usually first appears during the first two months of life. A reddish skin patch of thickened skin appears first on the buttocks and spreads to other parts of the infant's body. Scaling and peeling may occur with anemia, itching and diarrhea. The redness and scaliness usually decrease after a few weeks with treatment. Symptoms The initial symptom of Leiner Disease is thick reddish skin appearing first on the buttocks and soon involving the entire body. Redness (occasionally in patches) may be followed after a few days by crusty, dry, moist or greasy scaling on the scalp. Scaling may also appear behind ears, on the nose, eyebrows or around the mouth. In some cases, thin sheets of skin may peel from these areas. The skin symptoms usually decrease in a few weeks with treatment. Loss of protein or salts (electrolytes) can result from skin infections left untreated. Anemia, itching and diarrhea are also symptoms of this disorder. Causes Leiner Disease is inherited by an undetermined method of transmission. This disorder may also be influenced by unknown toxic substances either passed to infants through breast milk or originating in their intestinal tracts. A modification of blood complement C5 which governs the body's reaction to infection can also be a factor in the causes of this disorder. Some researchers believe Leiner Disease to be a variant of Ritter Disease. (See Ritter Disease in the Related Disorders section of this report). Affected Population Leiner Disease is a rare disorder which usually affects infants during the first two months of life. Breast-fed infants seem to have a higher incidence of this disorder than those who are on formulas. Males and females can be affected in equal numbers. Related Disorders Ritter Disease (Dermatitis Exfoliativa Neonatorum) is a skin disorder of infants usually caused by a bacterial infection. Reddened skin may peel leaving raw areas which heal in dry crusty yellow patches. This disorder may follow upper respiratory infections, impetigo, or other improperly treated skin infections. Sweet Syndrome is a skin disorder affecting adults which is characterized initially by general discomfort. Symptoms include small tender or painful skin lesions and fever. Circular bluish-red plaques appear on the arms, face, neck, legs, and less commonly on the legs and trunk. Careful treatment can usually clear up skin lesions without scarring. This disorder occurs mainly in middle-aged females. The exact cause of Sweet Syndrome is unknown. Therapies: Standard Treatment of infants with Leiner Disease usually involves a controlled environment, such as hospitalization; to avoid complications due to nutritional deficiencies and skin infections. After a few weeks, redness and scaliness decrease with careful treatment and do not usually recur. Ten percent of cases may be fatal as a result of uncontrolled infection or severe loss of electrolytes. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leiner Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information on genetics and genetic counseling referrals, please, contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References INHERITED DISORDERS OF COMPLEMENT: Lyn Guenther; J Am Acad Dermatol (December 1983, issue 9(6)). Pp. 815-839. YEAST OPSONIZATION DEFECT AND IMMUNOGLOBULIN DEFICIENCY IN SEVERE INFANTILE DERMATITIS (LEINER'S DISEASE): D.I. Evans, et. al.; Arch Dis Child (September 1977, issue 52 (9)). Pp. 691-695. Leiner Disease pagetitle 362: Leiner Disease 03926.TXT Copyright (C) 1992, 1993 National Organization for Rare Disorders, Inc. 887: Lennox-Gastaut Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Lennox-Gastaut Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms LGS Information on the following diseases can be found in the Related Disorders section of this report: West Syndrome Epilepsy Juvenile Myoclonic Epilepsy General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lennox-Gastaut Syndrome is a very rare childhood seizure disorder. It is usually apparent in infancy or early childhood. It is characterized by drop attacks (from simple dropping of the head to collapse of the entire body) and other seizures that occur many times a day. Symptoms Lennox-Gastaut Syndrome may begin in infancy but the onset is usually between 1 and 6 years of age. It includes seizures that occur many times a day and until recently anti-convulsant medications have often been little or no help in controlling the seizures. It is considered by many scientists to be one of the most difficult seizure disorders to treat. As a result of the many seizures that occur daily the affected child's intellectual ability and neurological systems can suffer damage causing permanent handicaps. There may be various types of seizures including "Drop Attacks" which result in a sudden loss of muscle tone that causes the child to drop to the ground. Tonic seizures and absence seizures also can occur in this disorder. Untreated it often continues into adulthood. Causes The cause of most types of epilepsy is unknown. Lennox-Gastaut Syndrome is associated with multiple lesions of the brain and diffuse slow (1-2 1/2 -HZ) spike-and-wave brain wave pattern on EEG test. The reason for the brain lesions and irregular brain wave pattern are unknown and may have a number of different causes. Affected Population Lennox-Gastaut Syndrome is a rare form of epilepsy that effects males and females in equal numbers. Usually the symptoms begin between 1 to 6 years of age, however, the syndrome may occur earlier than 1 and even into adulthood. Related Disorders Symptoms of the following disorders can be similar to those of Lennox-Gastaut Syndrome. Comparisons may be useful for a differential diagnosis: West Syndrome is characterized by unusual brain wave patterns on an EEG test, seizures/infantile spasms, movement disorders and mental retardation. Epilepsy is a general term describing a central nervous system disorder that is characterized by a sudden, aimless, uncontrollable discharge of electrical energy in the brain. This discharge is sometimes preceded by a strange feeling (aura) and is characterized by a convulsion and/or loss of consciousness. There are many types of epilepsy. The disease is not usually life-threatening and those affected can lead a full and active life if medication controls their symptoms. (For more information on this disorder, choose "Epilepsy" as your search term in the Rare Disease Database). Juvenile Myoclonic Epilepsy usually begins in mid to late childhood or adolescence. It is characterized by an unusual brain wave pattern on EEG testing, jerks of the neck and shoulders, no apparent loss of intelligence and usually a good response to anti-seizure medication. Therapies: Standard Lennox-Gastaut Syndrome may be diagnosed by EEG tests and Positron Emission Tomography (PET) imaging of the brain to detect lesions. Anti-seizure medications may be used for treatment such as amantadine, clonazepam, sodium valproate, taurine, cinromide and gamma-vinyl-GABA. However, these drugs often have limited success on this type of epilepsy. A surgical procedure, known as corpus callosotomy usually stops the seizures for children with Lennox-Gastaut. The procedure separates the anterior halves of the corpus callosum of the brain and results in improvement of seizures and a decrease in the need for anti-seizure medication. The Orphan Product Topiramate (Topimax) has been approved by the FDA for treatment of Lennox-Gastaut Syndrome. The drug is manufactured by: R.W. Johnson Pharm. Research Institute Welsh and McKean Roads Spring House, PA 19477-0776 Therapies: Investigational Felbamyl (Felbamate) is an experimental anti-convulsant drug being tested for control of seizures in adults and children over two years of age. The drug is being studied for use in Lennox-Gastaut Syndrome and it appears to have a promising therapeutic effect in some patients. Felbamyl is manufactured by Carter-Wallace Laboratories. The Orphan Product Topiramate (Topimax) has been approved by the FDA for treatment of Lennox-Gastaut Syndrome. The drug is manufactured by: R.W. Johnson Pharm. Research Institute Welsh and McKean Roads Spring House, PA 19477-0776 This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lennox-Gastaut Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Epilepsy Foundation of America 4351 Garden City Dr. Landover, MD 20785 (301) 459-3700 (800) 332-1000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 2222. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. P. 252. DOUBLE-BLIND, PLACEBO-CONTROLLED EVALUATION OF CINROMIDE IN PATIENTS WITH THE LENNOX-GASTAUT SYNDROME. Renier, W.O. et al.; Epilepsia, July-August, 1989 (issue 30 (4)). Pp. 422-429. Lennox-Gastaut Syndrome 20K pagetitle 887: Lennox-Gastaut Syndrome 03927.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 718: Leopard Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Leopard Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Multiple Lentigines Syndrome Cardiomyopathic Lentiginosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leopard syndrome is a genetic disorder characterized by small, dark spots on the skin (lentigines). Other symptoms such as EKG abnormalities, retardation of growth and deafness commonly occur. Intelligence is usually unaffected. The name "leopard" is composed of the first letters of the symptoms most commonly associated with this disorder. The "L" represents lentigenes, the "E" electrocardiogram abnormalities, the "O" ocular hypertelorism (wide spacing of the eyes), the "P" pulmonary stenosis, the "A" anomalies of the genital organs, the "R" retarded growth and the "D" deafness. Symptoms Leopard syndrome is most visibly characterized by small, dark spots on the skin which are unrelated to exposure to the sun and are potentially malignant (lentigines). These "lentigines", which resemble freckles, range between 1 and 5mm in size and are usually spread across the neck and torso. They tend to increase with age. Individuals with Leopard syndrome commonly have other symptoms including an abnormal narrowing of the opening between the pulmonary artery adjacent to the right ventricle of the heart (pulmonary stenosis), a chronic disorder of the heart muscle (hypertrophic obstructive cardiomyopathy), mild growth deficiency, excessively wide spacing between the eyes, prominent ears, winged shoulder blades, undescended testicles in males (cryptorchidism) and late onset of adolescence. Occasionally people with leopard syndrome have an impairment of the sense of smell, a missing or underdeveloped kidney and/or deafness. Causes Leopard syndrome is inherited as an autosomal dominant characteristic. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Leopard syndrome affects males and females in equal numbers. Therapies: Standard Genetic counseling may be of benefit for leopard syndrome patients and their families. Surgery may correct such problems as undescended testicles and certain heart abnormalities. A dermatologist should carefully monitor skin symptoms in order to identify possible malignancies. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leopard Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 455-456. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 470-471. Leopard Syndrome pagetitle 718: Leopard Syndrome 03928.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 387: Leprechaunism _________________________ ** IMPORTANT ** It is possible the main title of the article (Leprechaunism) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Donohue Syndrome Information on the following diseases can be found in the Related Disorders section of this report. Pseudoleprechaunism William's Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leprechaunism is a progressive hereditary endocrine disorder characterized by overdevelopment (hyperplasia) of the pancreas, insulin resistance, and excessive amounts of estrogens. It may be associated with abnormal carbohydrate metabolism, and a large quantity of iron in the liver (hepatic siderosis). Physical and sometimes mental retardation occurs with facial abnormalities and abnormal external genitalia. Symptoms Leprechaunism is characterized by growth retardation starting before birth with shortness of arms and legs. However, hands and feet tend to be large. Fatty tissue under the skin (subcutaneous) tends to disappear with advancing age. Children with this disorder have an elfin face characterized by sunken cheeks, a pointed chin, a flat broad nose, eyes that are set wide apart and low set ears. Symptoms also include excessive hairiness (hirsutism), and dark pigmentation in skin creases. In girls ovaries may be enlarged and exhibit cysts. Nipples and clitoris are also enlarged. In boys, the penis may be larger than normal. Additionally, mental development may sometimes be retarded. Patients with Leprechaunism have low blood sugar levels (hypoglycemia) after fasting, and an elevated insulin level can be detected through blood tests (hyperinsulinemia). They are also more susceptible to infections. Causes Leprechaunism is a genetic disorder inherited as an autosomal recessive trait. Parents of children with this disorder are often related (consanguineous). (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) The exact cause of Leprechaunism is not known. The genetic defect may cause an abnormality in the pancreas affecting production of insulin or may affect the way the insulin is bound to the insulin receptors. However, other body systems seem to be involved. Affected Population Leprechaunism affects less than 100 people in the United States, mostly female. Onset occurs before birth. Only 4 out of 15 reported cases were males. Usually the parents are closely related (second and first cousins once removed). Related Disorders Patterson Pseudoleprechaunism is a very rare disorder that has symptoms resembling Leprechaunism. Children with this syndrome may have a normal birth weight, bronze colored skin (hyperpigmentism), loose skin on the hands and feet, unusual facial characteristics, enlargement of the adrenal glands and the adrenal cortex (hyperadrenocorticism), and diabetes mellitus. Williams Syndrome is an autosomal dominant inherited disorder which is characterized by heart abnormalities, an elfin face, mild mental and growth deficiencies, teeth set wide apart, and increased calcium levels in the blood (hypercalcemia) during infancy. (For more information on this disorder, choose "Williams Syndrome" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Leprechaunism is symptomatic and supportive. Genetic counseling may benefit families of affected children. Infections should be guarded against and aggressively treated. Therapies: Investigational This disease entry is based upon medical information available through June 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leprechaunism, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE PATTERSON SYNDROME, LEPRECHAUNISM, AND PSEUDOLEPRECHAUNISM: T.J. David, et al.; Journal of Medical Genetics (August 1981: issue 18,4). Pp. 294-298. INSULIN RESISTANCE IN AN INFANT WITH LEPRECHAUNISM: H. Kashiwa, et al.; Acta Paediatrica Scandinavica (September 1984: issue 73,5). Pp. 701-704. Leprechaunism pagetitle 387: Leprechaunism 03929.TXT 6Copyright (C) 1986, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 67: Leprosy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Leprosy) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Hansen's Disease Lepra Disorder Subdivisions: Indeterminate Leprosy Tuberculoid Leprosy (Minor and Major) Benign Type Hansen's Disease Lepromatous Leprosy (Malignant Type Hansen's Disease) Dimorphous Leprosy (Borderline Leprosy) Information on the following diseases can be found in the Related Disorders section of this report: Mycosis Fungoides Lymphocytic Infiltrate of Jessner Lupus Miliaris Disseminatus Faciei Lupus Vulgaris General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leprosy is a progressive, chronic infectious disease caused by the bacteria, Mycobacterium leprae. This disease affects the nerves that are located outside the central nervous system (peripheral nerves), and the skin, mucous membranes, and eyes. In severe cases of Leprosy, loss of sensation, disfigurement, and/or blindness may occur. There are several forms of Leprosy: Tuberculoid (Minor and Major, and Benign Hansen's Disease), Lepromatous (Malignant Hansen's Disease), Dimorphous (Borderline Leprosy), and Indeterminate Leprosy. This disease is rare in the United States but prevalent in third world countries. Symptoms Leprosy is a slowly progressive infectious disease that affects nerves and the skin of the face, hands, lower legs, and/or feet. The symptoms of nerve involvement include burning and tingling sensations (paresthesias), a lack of sensation or feeling in the affected areas (anesthesia), weakness, paralysis, and/or the loss of muscle tissue (atrophy). Nerve lesions tend to occur in the skin and along the areas where nerves are grouped together (nerve trunks). Skin lesions include flat, spotty discolorations (macules), raised areas of red skin (papules), small solid masses (nodules) and/or raised discolorations (plaques). Plaques may be reddish (erythematous) or pale (hypopigmented). Leprosy is classified into the subtypes Tuberculoid and Lepromatous, and there are intermediate subtypes between these two. Tuberculoid Leprosy is the mildest subtype of the disease and is characterized by large plaques that are dry, hairless, and/or numb to the touch (anesthetic). The intermediate or borderline subtype of Leprosy is more severe and is characterized by numerous skin lesions but less loss of feeling. The symptoms of people with Intermediate or Borderline Leprosy tend to progress over time toward either the Tuberculoid or the Lepromatous form of the disease. People with Lepromatous Leprosy have less severe loss of feeling. However, involvement of the skin and nerves is more extensive and invasive. Solid nodular skin lesions are characteristic of this subtype of the disease. The complications that may occur include eye involvement and deformities of the face, hands, and/or feet. Deformities of the face can result from destruction by the bacteria, causing deterioration of the partition in the nose that divides the nostrils (nasal septum), cartilage, and other facial tissues. People with Lepromatous Leprosy usually lose their eyebrows and eyelashes, and the earlobes may enlarge. Deformities of the hands and feet may result from repeated trauma that is not felt due to sensory loss. Eye damage and visual impairment may occur in people with Leprosy. Symptoms may include inflammation of the membranes that line the eyes (conjunctivitis) and the corneas of the eyes (keratitis). Inflammation of the iris of the eyes (iridocyclitis) may lead to the loss of transparency in the lens of the eyes (cataracts). A lack of feeling in the cornea of the eyes (corneal anesthesia) may result from involvement of the nerves in the face (trigeminal nerve) and result in damage to the corneas and possibly blindness. Another serious complication of Lepromatous Leprosy is Erythema Nodosum Leprosum (ENL). This syndrome is characterized by high fevers, the decay (necrosis) of skin nodules, and pain as a result of inflammation of nerves. Erythema Nodosum Leprosum may also be associated with joint disease (polyarthralgia) and inflammation of the nerve fibers within the kidneys (glomerulonephritis). Some patients with Intermediate or Tuberculoid Leprosy experience a worsening of disease while on therapy (reversal reaction). This appears to be the result of a reaction of the immune system. If this occurs, the skin lesions may become deeper and may ulcerate. Other neurological symptoms may also worsen. The abnormal accumulation of a fatty substance in different parts of the body (Amyloidosis) is a complication of Leprosy. The prevalence of this disorder in association with Leprosy varies from one geographic region to another. The characteristic lesion of Leprosy is a mass of nodular granulated tissue (granuloma). These may appear on the skin, lymph nodes, liver, and/or spleen. The diagnosis of this disorder is made by skin biopsy, and it is important to examine a large specimen to be certain of the diagnosis of Leprosy. A biopsy that removes tissue from the affected area (excisional biopsy) is preferred to a small punch biopsy. Causes Leprosy is caused by the bacteria Mycobacterium leprae. These bacteria thrive in an acid environment and can only grow in living hosts. The way in which Leprosy is transmitted is not fully understood. This disease may possibly spread by direct skin contact, by inhalation, or by sexual contact. However, prolonged exposure to the person affected with Leprosy is necessary. Breast feeding and transmission by insects have also been implicated as a possible mode of transmission for this disease. Affected Population Leprosy affects approximately 12 million to 15 million people worldwide. Children are more susceptible to infection than adults. Leprosy is a major problem in tropical regions of Asia, Africa, and South America. It is also prevalent in some islands of the South Pacific. In the rare cases of Leprosy in the United States, they occur in the southern most parts of the country (i.e., around the Gulf of Mexico), but most of the cases appear in people who have immigrated from other countries. North American Indians appear to be immune to this disease. The number of cases of Leprosy is currently rising in the United States, due to large numbers of immigrants from regions where this disease is more common, particularly Southeast Asia. Approximately 8,000 cases had been identified in the United States in 1989, and were treated in U.S. Public Health Service Hospitals. Related Disorders Symptoms of the following disorders can be similar to those of Leprosy. Comparisons may be useful for a differential diagnosis: Mycosis Fungoides is a chronic progressive disorder of lymphocytes characterized by a red skin rash or psoriatic patches of dry blisters. The affected areas are very red and painful. These scattered red patches may appear on the trunk of the body, or on the arms and legs. As the disease progresses, lesions on the skin typically become bluish-red and elevated. Other symptoms may include anemia, weight loss, fever, and digestive difficulties. (For more information on this disorder, choose "Mycosis Fungoides" as your search term in the Rare Disease Database.) Lymphocytic Infiltrate of Jessner is a rare blood disorder characterized by benign solid lesions of the skin that may appear on the neck, face and/or back. The lesions are typically smooth and pink or red, have no hair follicles, and are sometimes clear in the center. The skin that surrounds the lesions is usually swollen and red. After several years, the lesions generally disappear. (For more information on this disorder, choose "Lymphocytic Infiltrate of Jessner" as your search term in the Rare Disease Database.) Lupus Miliaris Disseminatus Faciei is a chronic skin infection caused by Mycobacterium Tuberculosis. It is characterized by soft, brownish-red papules that may appear alone or in clusters. Papules may appear on the face, neck, mouth, and/or nose. Healing is usually slow and scarring is common. Lupus Vulgaris, another form of Tuberculosis that affects the skin, is a progressive infection that may cause scarring and deformities of the face. The yellowish-brown lesions are typically small and soft; they may appear as crusted ulcers. Lupus Vulgaris is more common in children and young adults. Therapies: Standard Leprosy can be cured if treatment begins early. Treatment may include the use of drugs such as diaminodiphenylsulfone, dapsone, rifampin, and ethionamide. The drug Dapsone is a standard treatment for this disease, but it does not kill the bacteria that cause Leprosy; it simply stops the bacteria from reproducing. The orphan drug clofazimine (Lamprene) is now approved as a treatment for people with Leprosy who are resistant to Dapsone. The drug is manufactured by Ciba-Geigy Pharmaceuticals. A therapy that combines these drugs is currently recommended for the treatment of Leprosy. A typical drug regimen would include dapsone, rifampin, and clofazimine. Therapy must be continued for 2 years in all cases, and longer in some. With combination drug therapy, the relapse rate is less than 10 percent. Reversal reactions and Erythema Nodosum Leprosum (ENL) must be treated immediately. In cases of reactions, corticosteroid drugs are initially administered. If the reaction persists, clofamizine may be prescribed. Moderate reactions have also been treated with potassium antimony tartrate (tartar ametic), stibophen, or chloroquine. Specific therapy for the disease should be maintained throughout the reactive episode unless the patient fails to respond to treatment, or serious side effects appear. Corneal dryness is treated with eye drops and ophthalmic mucin substitutes. Ocular complications of Erythema Nodosum Leprosum (ENL) must be treated promptly to prevent permanent damage to the eyes. Local atropine and hydrocortisone eye drops may be used to keep the pupils dilated and reduce the inflammation until the reaction subsides. Supportive care is important. Any area that has lost sensation such as arms, legs, and eyes must be protected from injury that could lead to infection, mutilation, or blindness. Some people with Leprosy may benefit from special shoes that compensate for foot deformities. Surgery may be necessary to treat eye problems or correct certain deformities of the hands and feet. The goal of surgery is to help improve function and improve the quality of life. Therapies: Investigational At the present time, studies are being conducted on the effectiveness of the drugs solasulphone and acedapsone for the treatment of Leprosy. Vaccines are also being studied. Progress is hampered because it is not possible to culture and grow the bacteria in the laboratory (in vitro). The orphan drug thalidomide is also being tested for use as a treatment for Leprosy. This drug is not used in women of childbearing age due to the possibility of serious birth defects. For more information on Thalidomide, physicians may contact: Pediatric Pharmaceuticals 379 Thornall Street Edison, NJ 08837 Thalidomide is available in England under special license from Penn Pharmaceuticals of Tredegar, South Wales. Research into the contagious aspects of Leprosy from person to person is ongoing because the mode of transmission is not understood. Since armadillos get a more serious infection than humans, scientists are trying to develop a vaccine from purified bacteria taken from armadillos. Another vaccine from monkeys is also being tested. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leprosy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Hansen's Disease Center United States Public Health Service Hospital Carville, LA 70721 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1745-1751. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. P. 146. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. P. 1054. INSIDE THE SKIN: THE LOCAL IMMUNE AND INFLAMMATORY MILIEU IN LEPROSY. D.M. Scollard; Am J Trop Med Hyg (April 1991; 44(4.2). Pp. 17-23. LEPROSY. W.M. Meyers; Dermatol Clin (Jan. 1992; 10(1)). Pp. 73-96. CLOFAZIMINE: A REVIEW OF ITS USE IN LEPROSY AND MYCOBACTERIUM AVIUM COMPLEX INFECTION. J.C. Garrelts; DICP (May 1991; 25(5)). P. 5. Leprosy 7pagetitle 67: Leprosy 03930.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 389: Leptospirosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Leptospirosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorder covered by this article. Synonyms Canefield Fever Canicola Fever Field Fever Mud Fever Seven Day Fever Spirochetosis Swineherd Disease Information on the following diseases can be found in the Related Disorders section of this report. Weil Syndrome Meningitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Leptospirosis is an inclusive term for all bacterial infections caused by any Leptospira bacteria, regardless of the type. A single type of bacteria may cause various clinical symptoms, or a single syndrome such as aseptic meningitis may be caused by many types of this bacteria. Symptoms Leptospirosis is an infection caused by Leptospira bacteria. This infection may occur in several domestic and wild animals. The disorder can vary from a form without apparent symptoms to a very serious life threatening form. Animals carrying the infection can pass leptospira bacteria in their urine for months. The infection seems to be passed to humans, usually during hot weather, through direct contact with an infected animal's urine or tissue. Sometimes the infection is transferred indirectly through contaminated water or soil. Breaks in the skin and exposed mucous membranes (such as the conjunctiva, nose, or mouth) are the usual portals of entry in man. The incubation period for the Leptospira bacteria ranges from 2 to 20 days. The disorder characteristically occurs in two phases. The leptospiremic phase starts abruptly with headache, pain behind the eyeball (retroorbital), lack of appetite (anorexia), severe muscle aches, chills, sweating, nausea, vomiting, and fever. Constipation, diarrhea, symptoms of the common cold, coughing, chest pain, a stiff neck, and difficulty breathing (dyspnea) may also occur. Enlargement of the spleen (splenomegaly) and liver (hepatomegaly) are uncommon, but may occur. This phase usually lasts 4 to 9 days, with recurrent chills and fever that spikes to over 39 degrees C (102 F), and then abates. On the 6th to 12th day of illness, the second (or immune) phase of Leptospirosis occurs. Antibodies appear in the blood serum. Fever and earlier symptoms may recur and symptoms of irritated membranes lining the brain (meningismus) may develop. Examination of the cerebrospinal fluid after the 7th day shows a greater than normal number of cells (pleocytosis) in at least 50% of patients. Inflammation of the iris and the ciliary body behind the iris (iridocyclitis), the optic nerve (optic neuritis), and peripheral disease of the nerves (neuropathy) may occur infrequently. If acquired during pregnancy, Leptospirosis may cause abortion even during the period of convalescence. Causes Leptospirosis is caused by bacteria of the genus Leptospira which can be found in the urine or tissue of an infected domestic or wild animal. It is transferred to humans through breaks in the skin or mucous membranes. Affected Population Leptospirosis may occur in people of all ages. At least 75% of persons infected with Leptospirosis are male. The infection can be an occupational disorder striking farmers, veterinarians, or sewer and abattoir workers, but most patients are exposed incidentally during recreational activities. Related Disorders Many types of bacterial infections may cause fever and other symptoms similar to the symptoms of Leptospirosis. Weil Syndrome is a severe form of bacterial infection caused by Leptospira bacteria (Leptospirosis) causing abnormal liver and kidney function. (For more information on this disorder, choose "Weil Syndrome" as your search term in the Rare Disease Database.) Meningitis is an infection of the membrane lining the skull or the spinal cavity (meninges) by either bacteria or viruses. (For more information on this disorder, choose "Meningitis" as your search term in the Rare Disease Database.) Therapies: Standard Antibiotics such as penicillin, streptomycin, the tetracyclines, chloramphenicol, and erythromycin may be effective if used before the 4th day after onset of symptoms of Leptospirosis. Mechanical ventilation has been used successfully in treating respiratory distress in Leptospirosis patients. Peritoneal dialysis in combination with treatment with antibiotics has been used successfully to treat severe liver and kidney failure in patients with Leptospirosis. Therapies: Investigational Studies are underway to determine the role of antigens and antibodies in treating Leptospirosis infections. However, treatments have not been established as yet. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Leptospirosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References LEPTOSPIRAL EXPOSURE IN DETROIT RODENT CONTROL WORKERS: Demers; American Journal for Public Health (September 1985: issue 75,9). Pp. 1090-1091. CURRENT CLINICAL ASPECTS OF LEPTOSPIROSIS: F. Suter, et al.; Minerva Medica (May 12, 1983: issue 74,20). Pp. 1187-1190. (Published in Italian.) Leptospirosis l Ma! pagetitle 389: Leptospirosis 03931.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 255: Lesch-Nyhan Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Lesch-Nyhan syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hereditary Hyperuricemia Hyperuricemia, Choreoathetosis, Self-mutilation syndrome Hyperuricemia-Oligophrenia Nyhan syndrome Juvenile Gout, Choreoathetosis, Mental Retardation syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Lesch-Nyhan syndrome is a sex-linked hereditary neurological disorder caused by an enzymatic defect. Onset occurs during infancy and it progresses to cause aggressive behavior (including self-mutilation) and mental retardation. Symptoms Onset of Lesch-Nyhan syndrome occurs during infancy in males. Babies affected by the disorder usually appear normal and healthy until they are a few months old when their condition begins to deteriorate. The defect in the enzyme that causes Lesch-Nyhan syndrome can be detected with almost 100% accuracy in people affected by the syndrome and in carriers through a biochemical study on cultured cells. This defect causes a marked elevation of uric acid in their blood (hyperuricemia). Affected male babies can be detected before birth through the same test. Orange sand (from the urine) in the diaper is usually the first sign of the disorder. Stones in the urine (urolithiasis) and the appearance of chalky deposits of sodium urate (tophi) around joints and under the skin occur as early as age 8 years. As a consequence, kidney disease and arthritis (gout) may develop. Patients exhibit a startle reaction with arching of the head and back in response to sudden noise. They suffer from muscular weakness and perform ceaseless slow writhing movements of the fingers, arms, toes and face. Speech and swallowing becomes impaired. Patients vomit frequently. Most children with the Lesch-Nyhan syndrome are severely underweight, and many are quite short. In addition, part of the respiratory tract is constricted and the breath makes a whistling sound (aspiration). Pneumonia is common in patients with this disorder. A peculiar characteristic of this syndrome is outbursts of aggressive behavior including self-mutilation. The children must be protected from themselves. Causes Lesch-Nyhan syndrome is an X-linked hereditary disorder caused by a lack of hypoxanthine-guanine posphoribosyl transferase enzyme which participates in the metabolism of acid purines. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) People affected with the disorder, or carriers, can be detected through biochemical studies on cultured cells, even before birth. Female siblings and maternal aunts can be carriers of the disorder, but usually only males get Lesch-Nyhan syndrome. Affected Population Lesch-Nyhan syndrome affects only males, though females can be genetic carriers of the disorder. Therapies: Standard Allopurinol is used to treat the symptoms related to excessive production of uric acid in Lesch-Nyhan syndrome. Children with this disorder require physical restraints such as hip, chest and elbow restraints so they do not hurt themselves. Elbow restraints keep the hands free. Biting of fingers and/or lips can be prevented by extracting teeth. Therapies: Investigational Investigational studies with a mouse virus are underway. If this virus is injected into humans, it is hoped that it may trigger production of the enzyme lacking in patients with Lesch-Nyhan syndrome. This study is in its initial stages, and it may be some years before the technique moves out of the laboratory and into clinical trials. This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Lesch-Nyhan Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Lesch-Nyhan Syndrome Registry Dr. Lowell Anderson New York University School of Medicine Bellevue Hospital Medical Center Dept. of Psychiatry 550 First Ave. New York, NY 10012 (212) 263-6458 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Dr. William L. Nyhan Professor of Pediatrics UC School of Medicine, San Diego CA La Jolla, CA 92093 (619) 534-4150 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References Disorders of Purine and Pyrimidine Metabolism: Nyhan, in: Practice of Pediatrics: Kelley, Harper & Row (1982). Lesch-Nyhan Syndrome pagetitle 255: Lesch-Nyhan Syndrome 03900.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 437: Keratosis, Seborrheic _________________________ ** IMPORTANT ** It is possible the main title of the article (Seborrheic Keratosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Keratosis Seborrheica Seborrheic Warts Senile Warts Verruca Acanthotic Nevus Information on the following diseases can be found in the Related Disorders section of this report: Malignant Melanoma Pigmented Basal Cell Carcinoma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Seborrheic Keratosis is a skin disorder usually characterized by discolored lesions that appear to be "stuck on" the skin surface. Warts may appear and skin is often oily or greasy. These skin lesions are sometimes mistaken for cancerous growths and tend to appear predominately during middle age. Itching, irritation, inflammations or unsightliness of lesions may require surgical removal of affected skin areas. Symptoms Symptoms of Seborrheic Keratosis are limited to discolored skin lesions that appear to be "stuck on" the skin surface. These patches can appear suddenly, vary in size, and they tend to grow slowly. They are round or oval-shaped, and are either tan, yellowish, brown or black. They can be widespread over the trunk, back, and/or shoulders. Some cases may be limited to a small area such as the temples or the cheeks. The skin lesions may also be waxy, scaling or crusted. They tend to become darker and larger with age. Causes The exact cause of Seborrheic Keratosis is not known although researchers believe some forms may be inherited as a dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Seborrheic Keratosis predominately affects middle aged individuals, although in very rare cases, it can be present at birth. Related Disorders Symptoms of the following disorders can be similar to those of Seborrheic Keratosis. Comparisons may be useful for a differential diagnosis: Malignant Melanoma is a type of skin cancer that is characterized by rapid growth of cells which form melanin (normal skin pigmentation). These melanomas can appear on any part of the body. In early stages, skin lesions of various sizes, shapes and colors may resemble those found in Seborrheic Keratosis. A skin biopsy may be necessary to confirm the diagnosis. If left untreated, abnormal cells may invade various body organs. Pigmented Basal Cell Carcinoma is characterized by localized, slow growing skin nodules which rarely spread to other parts of the body. These small, shiny and firm growths are associated with skin or hair follicle cells. Ulcerated, crusted lesions, and flat, scar-like plaques with hardened skin may also develop. Therapies: Standard Since Seborrheic Keratosis is not a form of skin cancer, treatment is not essential and removal of lesions is usually performed only to enhance comfort and/or cosmetic appearance. Treatment of Seborrheic Keratosis consists of removal of the skin lesions by scraping (curettage), sealing off blood vessels or destruction of lesions (electrodessication) with local anesthetic, shave excision, or freezing with CO2 snow or liquid nitrogen. Trichloroacetic acid may be used to eliminate lesions. Dermabrasion removal may also be performed. In most cases, scarring is not associated with removal of these skin lesions. Therapies: Investigational This disease entry is based upon medical information available through June 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Seborrheic Keratosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information, contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SEBORRHEIC KERATOSES: A.H. Kettler, et al.; Am Fam Physician (August 1986, issue 34(2) ). Pp. 147-152. DIFFERENTIATING SEBORRHEIC KERATOSIS FROM SKIN NEOPLASM: R.W. Cashmore, et al.; Geriatrics (July 1985, issue 40(7)). Pp. 69-71, 74-75. DERMABRASION FOR THE TREATMENT OF A GIANT SEBORRHEIC KERATOSIS: E Pepper; J Dermatol Surg Oncol (June 1985, issue 11(6)). Pp. 646-647. Keratosis, Seborrheic pagetitle 437: Keratosis, Seborrheic 03901.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 233: Kernicterus _________________________ ** IMPORTANT ** It is possible the main title of the article (Kernicterus) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Bilirubin Encephalopathy Posticteric Encephalopathy Nuclear Jaundice General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Kernicterus is a condition characterized by an excess of bilirubin in the blood in infancy. The bilirubin is deposited in the basal ganglia of the brain and in the brainstem nuclei. Symptoms Early symptoms of Kernicterus in full term infants may include lethargy, poor feeding and vomiting, a spasm with head and heels bent backward and the body bowed forward (opisthotonus), upward deviation of the eyes, convulsions and muscular rigidity. Later in childhood, survivors may manifest the typical late triad of cerebral palsy marked by ceaseless jerky movements and slow sinuous writhing movements (choreoathetosis), sensorineural hearing loss, and loss of upward gaze. However, only minor problems characterized by perceptual-motor handicaps and learning disorders in school may be present in mild cases. Causes Historically, severe hemolytic jaundice of the newborn was the main cause of Kernicterus. Erythroblastosis Fetalis, another cause of jaundice in infancy, is a hemolytic anemia of the fetus or newborn. It is caused by transmission through the placenta of maternal antibody, which is usually evoked by maternal and fetal blood group incompatibility. Since new improved methods of treating jaundice have evolved, the disorder tends to develop only in premature or sick, very low birthweight infants with unconjugated hyperbilirubinemia, particularly in the presence of certain predisposing factors. These include: 1. low blood oxygen (hypoxemia) 2. acidosis (acidity of the blood) 3. infections 4. low albumin in the blood (hypoalbuminemia) 5. low body temperature (hypothermia). Hyperbilirubinemia is an excess of bilirubin (the breakdown product of hemoglobin and other blood pigments) in the blood. Excess bilirubin causes jaundice which is characterized by a yellow color of the skin (which occurs shortly after birth in this disorder). Related Disorders Jaundice, the yellow skin color which indicates an increased amount of bilirubin in the blood, can have many causes including liver diseases and hemolytic anemias. (For more information on these disorders, choose "liver" and "hemolytic" as your search terms in the Rare Disease Database, and see the related articles in the Prevalent Health Conditions/Concerns area of NORD Services (rdb-4)). Affected Population Kernicterus can affect newborn infants of both sexes. Therapies: Standard Treatment of Kernicterus consists of early, frequent feedings of all newborns to reduce the incidence and severity of too much bilirubin (a product of blood-breakdown) in the blood. These feedings increase the mobility of the bowels and frequency of stools, thereby minimizing the effects of the circulation of bilirubin in the liver and intestines. Phototherapy is used to treatment hyperbilirubinemia. Exposing newborns with this disorder, particularly premature infants, to visible light in the blue range, is most effective for photo-oxidizing bilirubin. Phototherapy causes dermal photoisomerization of bilirubin, changing it to forms that the liver can excrete more readily without glucuronidation. A Plexiglass shield should be placed between the phototherapy lights and the infant to screen out ultraviolet radiation that may be harmful, and the infant should be blindfolded to prevent eye damage from the light. Care must be taken to avoid nasal obstruction by the blindfold. The light should be turned off and the blindfold removed during feedings. Since bilirubin in the collection tubes may photo-oxidize rapidly, the light should also be off when blood is taken for bilirubin determinations. Although data regarding the effects of phototherapy on distribution of bilirubin within the infant's body and long-term effects on mental development of treated infants are not yet available, this form of therapy has gained widespread use. Phototherapy must never be started before the causes of the hyperbilirubinemia have been fully evaluated. Traditionally, dangerous levels of bilirubin are treated by exchange blood transfusion via an umbilical vein catheter in order to prevent Kernicterus. This procedure is safe when done by experienced personnel, especially when it is done on otherwise healthy full-term newborns. Therapies: Investigational The Food and Drug Administration (FDA) has designated Zixoryn (flumecinol) as an orphan drug which can be used for investigational therapy of hyperbilirubinemia. Zixoryn can be used to treat newborn infants with hyperbilirubinemia who are unresponsive to phototherapy. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Kernicterus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Liver Foundation 998 Pompton Avenue Cedar Grove, NJ 07201 (201) 857-2626 (800) 223-0179 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 Children's Liver Foundation 14245 Ventura Blvd. Sherman Oaks, CA 91423 (818) 906-3021 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1767, 1854, 1883. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 812, 1076. Kernicterus pagetitle 233: Kernicterus 03902.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 604: Kienboeck Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Kienboeck Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lunatomalacia Osteochondrosis of the Lunate Bone Information on the following diseases can be found in the Related Disorders section of this report: Carpal Tunnel Syndrome Sudeck's Atrophy Juvenile Osteoporosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Kienboeck Disease is an acquired bone disorder. Abnormalities of the lunate bone in the wrist develops following an injury or inflammation. Recurrent pain and stiffness occur in conjunction with thickening, swelling and tenderness in soft tissue overlying the lunate bone. The range of motion in the wrist may become limited. Symptoms Kienboeck Disease is characterized by degenerative changes in the lunate bone of the wrist. Softening, deterioration, fragmentation or compression of the affected bone can occur. These changes may produce pain, swelling, tenderness, thickening and/or stiffness in the overlying tissues of the wrist. The range of motion may become restricted. Healing occurs through formation of new bone in some cases. Causes Kienboeck Disease is caused by inflammation or injury of the wrist. Affected Population Kienboeck Disease usually begins during childhood and seems to affect females more often than males. Related Disorders Symptoms of the following disorders can be similar to those of Kienboeck Disease. Comparisons may be useful for a differential diagnosis: Carpal Tunnel Syndrome is a condition caused by compression of peripheral nerves in the wrist, affecting one or both hands. It is characterized by a sensation of numbness, tingling, burning and/or pain in the hand and wrist. Persons affected by this disorder may be awakened at night with the feeling that the hand has "gone to sleep". Various other diseases may occur in conjunction with this condition. With timely treatment, the prognosis in most cases is favorable. (For more information on this disorder, please choose "Carpal Tunnel" as your search term online.) Sudeck's Atrophy, also known as post-traumatic osteoporosis, is marked by an acute atrophy of the bones. The wrist and ankle bones are most commonly affected, following a slight injury such as a sprain. Juvenile Osteoporosis is marked by a porous condition or atrophy of bone tissue beginning before puberty. The exact cause has not been identified. This condition can lead to pain or fractures in many bones of the body including the wrist. Spontaneous remission may occur within several years. Therapies: Standard The treatment of Kienboeck's Disease may involve surgery on the lunate bone. Arthroscopic, CT scan and/or x-ray imaging may be used for diagnosis. If inflammation of the wrist has occurred, drug treatment may be recommended. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Kienboeck Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References EXCISION OF THE LUNATE IN KIENBOECK'S DISEASE. RESULTS AFTER LONG-TERM FOLLOWUP: H. Kawai, et al.; J Bone Joint Surg [Br] (March 1988, issue 70(2)). Pp. 287-292. ULNA-MINUS VARIANCE AND KIENBOECK'S DISEASE: P.A. Nathan, et al.; J Hand Surg (September 1987, issue 12(5 pt 1)). Pp. 777-778. Kienboeck Disease pagetitle 604: Kienboeck Disease 03903.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 861: Kikuchi's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Kikuchi's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Histiocytic Necrotizing Lymphadenitis HNL Kikuchi-Fujimoto Disease Kikuchi's Histiocytic Necrotizing Lymphadenitis Necrotizing Lymphadenitis Information on the following diseases can be found in the Related Disorders section of this report: Burkitt's Lymphoma Hodgkin Disease Malignant Lymphoma General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Kikuchi's Disease is a rare noncancerous disorder in which there are lesions that typically affect the lymph nodes in the neck of young adults. This disorder is often mistaken for malignant Lymphoma because the symptoms are very similar. The lesions, or tissue abnormalities in this disorder cause the lymph nodes to become enlarged, inflamed and painful. The exact cause of Kikuchi's Disease is not known. Symptoms Kikuchi's Disease is a rare nonmalignant disorder that affects the lymph nodes. The lymph nodes are small oval structures that filters lymph fluid that draws from organs and tissues, fight infection and form white blood cells and blood plasma cells. In Kikuchi's Disease lymph nodes on the side of the neck and near the salivary glands are affected. The lymph nodes may be swollen, hard, painful and tender. The patient may have a fever and pain in the area of the affected lymph nodes. The abnormal tissue growths and inflammation in Kikuchi's Disease normally clear up within a few weeks or months without treatment. Causes The exact cause of Kikuchi's Disease is not known. Many researchers suspect that a virus may cause this disorder. Affected Population Kikuchi's Disease is an extremely rare disease. There have been less than 50 cases reported in the medical literature. This disorder particularly affects young adults. Kikuchi's Disease was originally identified in Japan in 1972. Kikuchi's Disease may be more prevalent than has been previously recorded due to the fact that swollen glands are fairly common and ignored by many people. Since this disorder can only be determined by a biopsy of the tissue in the affected lymph nodes, it may be overlooked by many unsuspecting patients. Related Disorders Symptoms of the following disorders can be similar to those of Kikuchi's Disease. Comparisons may be useful for a differential diagnosis: Burkitt's Lymphoma is a cancer of the lymphatic system that affects the lymph nodes as well as other areas of the body. Tumors may occur in the kidneys, sex glands, jaw, bone marrow, or central nervous system as well as the lymph nodes. Burkitt's Lymphoma may be infectious. This disorder occurs often in children living in Central Africa, and is associated with the Epstein-Barr virus. Hodgkin's Disease is a form of cancer of the lymphatic system, especially the lymph nodes. Tumors occur in the lymph nodes. Fever, night sweats and weight loss may occur along with swollen lymph nodes. Examination of the affected lymph node tissue by a pathologist shows the presence of a type of cell called Reed-Sternberg cells. The exact cause of Hodgkin's Disease is not known. (For more information on this disorder choose "Hodgkin" as your search term in the Rare Disease Database). Malignant Lymphoma is a tumor of the lymphoid tissue that is cancerous. Lymphoid tissue contains a type of white blood cell (lymphocyte) in its spaces. The cell structure varies in the various types of lymphomas, but the effects of these tumors are usually similar. The appearance of large lymph nodes in the neck is usually followed by fever, weakness, weight loss and anemia. When there is widespread involvement of the lymphoid tissue, the spleen and liver may also enlarge. The following conditions have been associated with Kikuchi's Disease in some patients. They are not necessary for a differential diagnosis: Pancytopenia - a reduction in the number of red and white blood cells and platelets in the circulating blood. Splenomegaly - an abnormal enlargement of the spleen. Still's Disease - also called Juvenile Rheumatoid Arthritis or Rheumatic Arthritis, is a form of arthritis that usually affects the larger joints of children. It may also occur in adulthood. The patient may have a high intermittent fever, rash, inflammation of several thin sheets of tissue that line certain areas of the body (serous membranes), a disease process that affects the lymph nodes (Lymphadenopathy), enlargement of the liver and spleen, an abnormal increase in the number of circulating white blood cells (leukocytosis), and a decrease in red cells in the blood (anemia). This disorder is often mistaken for leukemia or an infection. (For more information on this disorder, please choose "Rheumatic Arthritis" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Kikuchi's Disease is symptomatic and supportive. Usually the disorder resolves itself spontaneously within a few weeks or months. Kikuchi's Disease is diagnosed by removing tissue with a fine needle that is attached to a syringe. The tissue is then examined under a microscope to determine if the patient has the disease. Therapies: Investigational This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Kikuchi's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References KIKUCHI-FUJIMOTO DISEASE MIMICKING MALIGNANT LYMPHOMA: G.A. Chamulak, et al., Am J Surg Pathol (June 1990, issue 14(6)). Pp. 514-23. NECROTIZING LYMPHADENITIS (KIKUCHI'S DISEASE). REPORT OF FOUR CASES OF AN UNUSUAL PSEUDOLYMPHOMATOUS LESION AND IMMUNOLOGIC MARKER STUDIES: P.D. Unger, et al.; Arch Pathol Lab Med (November 1987, issue 111(11)). Pp. 1031-4. CUTANEOUS MANIFESTATIONS OF KIKUCHI'S HISTIOCYTIC NECROTIZING LYMPHADENITIS: T.T. Kuo; Am J Surg Pathol (September 1990, issue 14(9)). Pp. 872-6. KIKUCHI-FUJIMOTO DISEASE MIMICKING MALIGNANT LYMPHOMA: G.A. Chamulak, et al.; Am J Surg Pathol (June 1990, issue 14(6)). Pp. 514-23. NECROTISING LYMPHADENITIS WITHOUT GRANULOCYTIC INFILTRATION (KIKUCHI'S DISEASE): M.H. Ali, et al.; J Clin Pathol (November 1985, issue 38(11)). Pp. 1252-7. Kikuchi's Disease pagetitle 861: Kikuchi's Disease 03904.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 679: Kinsbourne Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Kinsbourne Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Opsoclonus-Myoclonus Myoclonic Encephalopathy Opsoclonic Encephalopathy Information on the following diseases can be found in the Related Disorders section of this report: Myoclonus Leigh's Disease Kernicterus General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Kinsbourne Syndrome is a rare seizure disorder. Major symptoms may include an unsteady gait, myoclonus, (uncontrollable jerky movements) and rapid eye movements. Symptoms Kinsbourne Syndrome is characterized by repeated, rapid eye movements in both horizontal and vertical directions (opsoclonus), an unsteady gait (ataxia), spasms or twitchings of a muscle or group of muscles (myoclonus) and behavioral abnormalities. Mental retardation may or may not be present. Causes The exact cause of Kinsbourne Syndrome is not known. In approximately forty-five per cent of all cases the cause of it is related to malignant tumors of embryonic nerve cells (neuroblastoma). These tumors can be located in various areas of the body, but they are most often located in the adrenal medulla of the brain. In some cases the disorder can occur after a viral infection such as chicken pox or measles. Affected Population Kinsbourne Syndrome is a rare disorder that usually affects infants and young children, although it is also known to affect adults. It is found in males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Kinsbourne Syndrome. Comparisons may be useful for a differential diagnosis: Myoclonus is a group of movement disorders characterized by sudden, involuntary contractions of a skeletal muscle or group of muscles. It may be divided into two groups, rhythmical and arrhythmic myoclonus. Myoclonus may accompany a number of neurologic diseases, including seizure disorders, brain injuries, hereditary brain disorders, viral infections, and neuroblastomas. In arrhythmic myoclonus, the more common type, muscle jerks are irregular and unpredictable. Single muscles, or the entire skeletal musculature may be affected. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database.) Rhythmical, or segmental, myoclonus is characterized by synchronized muscle jerks with a constant frequency of between ten and one hundred and eighty jerks per minute. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database). Leigh's Disease is a genetic metabolic disorder characterized by lesions of the brain, spinal cord, optic nerve and in some cases, an enlarged heart. The disorder is usually first diagnosed during infancy but may begin later. Symptoms during infancy may include low body weight, slow growth, tremors, skin changes and interrupted breathing patterns. Progressive neurological disturbances, mental retardation, slurred speech and loss of motor coordination (ataxia) may occur in cases beginning during or after infancy. Abnormalities of eye movement and other vision problems may develop in cases with later onset. (For more information on this disorder, choose "Leigh" as your search term in the Rare Disease Database). Kernicterus is a condition characterized by an excess of bilirubin in the blood during infancy. The bilirubin is deposited in the basal ganglia of the brain and in the brainstem nuclei. Early symptoms of Kernicterus in full term infants may include lethargy, poor feeding and vomiting, a spasm with head and heels bent backward and the body bowed forward (opisthotonus), upward deviation of the eyes, convulsions and muscular rigidity. Later in childhood the patient may show ceaseless jerky movements and slow sinuous writhing movements (choreoathetosis), sensorineural hearing loss, and loss of upward gaze. (For more information on this disorder, choose "Kernicterus" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Kinsbourne Syndrome involves the use corticosteroid drugs, synthetic ACTH (Synacthen) and adrenocorticotropic hormones to relieve symptoms. When the cause of the disorder is a neuroblastoma surgery to remove the tumor is performed along with chemotherapy or radiation therapy. Therapies: Investigational Research on Kinsbourne Syndrome is being pursued by the following physician. Patients who may be interested in participating in the study should ask their doctor to contact: Michael R. Pranzatelli, MD Neurology Department Columbia University Health Sciences 630 West 168th Street New York, NY 10032 (212) 305-1541 This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Kinsbourne Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Kinsbourne Syndrome Support Group 8722 Beal Dyer, IN 46311 or Rt. 1, Box 305 Carrollton, VA 23314 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 National Myoclonus Foundation 845 Third Avenue, 4th Floor New York, NY 10022 (212) 758-5656 References POLYMIOCLONIA-OPSOCLONUS; KINSBOURNE SYNDROME. REPORT OF A CASE. J.B. Vieira, et al.; Arq Neuropsiquiatr (June, 1985, issue 43 (2)). Pp. 194-197. OPSOCLONIC ENCEPHALOPATHY IN CHILDHOOD (KINSBOURNE SYNDROME). A. Corriea, et al.; Pediatr Med Chir (May-June, 1985, issue 7 (3)). Pp. 437-441. MYOCLONIC ENCEPHALOPATHY (KINSBOURNE SYNDROME). W. Kaulfersch, et al.; Padiatr Padol (1984, issue 19 (3)). Pp. 279-285. KINSBOURNE DISEASE. STUDY OF FOUR CASES. E. Fernandez-Alvarez, et al.; An Esp Pediatr (June-July, 1978, issue 11 (6-7)). Pp. 461-470. Kinsbourne Syndrome nd a' pagetitle 679: Kinsbourne Syndrome 03905.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 96: Klinefelter Syndrome _________________________ General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Klinefelter Syndrome, which is characterized by the presence of one or more extra x-chromosomes in at least one tissue, is the most frequent cause of primary hypogonadism. Hypogonadism is a condition in which abnormally decreased functional activity of the gonads results in retardation of growth and sexual development). Klinefelter Syndrome is clearly evident only after puberty with evidence of infertility and/or eunuchoidism of varying degrees. Abnormally large mammary glands occur with high frequency. Symptoms The most common symptoms of Klinefelter Syndrome may include abnormally small testes which contain sclerosed (hard) tubules, lack of sperm, enlarged mammary glands, and abnormally small penis. Mental deficiency may also occur. Other clinical manifestations may include retarded development of external and accessory sex organs, absence of beard and body hair, a high pitched voice, and a striking lack of muscular development. If mosaicism (cells consisting of male tissue in one part and female tissue in another part) with the XXY genotype occurs in only a few cell lines, many of these characteristics may be absent. In this case, the only manifestation of the disorder might be either infertility or decreased fertility. Causes Klinefelter Syndrome results from the presence of supernumerary X chromosomes. Affected Population Only males are predominantly affected with Klinefelter Syndrome. The rate of occurrence is 1 in 500. Therapies: Standard Treatment of male primary hypogonadism is with androgens to promote virilization. Testosterone enanthate or cypionate may provide satisfactory replacement. However, patients with Klinefelter Syndrome cannot become fertile so gonadotropin therapy need not be considered. Mastectomy may be necessary for cosmetic purposes in some patients. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Klinefelter Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Klinefelter's Syndrome Association of America P.O. Box 93 Pine River, WI 54965 Klinefelter Syndrome and Associates P.O. Box 119 Roseville, CA 95661-0119 Klinefelter's Syndrome Support Group of Canada P.O. Box 5000 Pentanguishene, Ontario, LOK 1PO Canada NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 167-70, 1412-13. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 2074-5, 2150. Klinefelter Syndrome pagetitle 96: Klinefelter Syndrome 03906.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 659: Klippel-Feil Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Klippel-Feil Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms KFS Congenital Cervical Synostosis Disorder Subdivisions: Klippel-Feil Syndrome: Types I, II, and III Information on the following diseases can be found in the Related Disorders section of this report: Wildervanck Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Klippel-Feil Syndrome is a rare, congenital disorder of the spine. Major symptoms may include a short neck, low hairline at the back of the head and restricted mobility of the upper spine. There may also be associated hearing loss, neurologic, heart, kidney and breathing problems. Symptoms Three types of Klippel-Feil Syndrome have been identified. Symptoms common to all types include fusion of neck vertebrae, scoliosis (curvature of the spine), and low hairline. Children born with Klippel-Feil Syndrome Type I show massive fusion of many neck and upper back vertebrae into bony blocks. Type II is characterized by fusion at only one or two interspaces (disks) such as the first vertebra of the neck. Type III is characterized by fusion in neck and back or lower back. More than half of the cases of Klippel-Feil Syndrome also have kidney defects. The compression of vertebrae may also cause problems of the nervous system and contribute to heart and lung conditions. Following neurologic defects, hearing loss is the second most common associated feature. There is increased danger of head and neck injury in children and adults who exhibit craniocervical fusion. Causes Klippel-Feil Syndrome is inherited as an autosomal recessive trait. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Klippel-Feil Syndrome is a rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Klippel-Feil Syndrome. Comparisons may be useful for a differential diagnosis: Wildervanck Syndrome consists of congenital perceptive deafness, fused cervical vertebrae and palsy of the eyes. It primarily affects females. Therapies: Standard Treatment of Klippel-Feil Syndrome is supportive and symptomatic. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Klippel-Feil Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 443, 1466. AURAL ABNORMALITIES IN KLIPPEL-FEIL SYNDROME; I. Ohtani, et al.; Am J Otol (November, 1985, issue 6 (6)). Pp. 468-471. Klippel-Feil Syndrome pagetitle 659: Klippel-Feil Syndrome 03907.TXT )Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 453: Klippel-Trenaunay Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Klippel-Trenaunay Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Klippel-Trenaunay-Weber Syndrome KTW Syndrome Angio-Osteohypertrophy Syndrome Congenital Dysplastic Angiectasia Elephantiasis Congenita Angiomatosa Hemangiectatic Hypertrophy Osteohypertrophic Nevus Flammeus DISORDER SUBDIVISIONS Parkes-Weber Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Sturge-Weber Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Klippel-Trenaunay Syndrome is a blood vessel disorder combining Nevus Flammeus (a birth mark which is the color of a port wine stain), excessive growth of the soft tissue and bone, and varicose veins. Cases range from mild to severe with a variety of complications possible. Onset usually occurs before birth or during early childhood. Symptoms Seventy-five percent of Klippel-Trenaunay Syndrome cases involve wine colored birthmarks called "nevus flammeus" or "port wine stains". These birthmarks are apparent at birth and tend to deepen in color with age. Masses of veins, lymph vessels and capillaries (with or without thickened walls) may be diagnosed before birth with the use of ultrasound tests. In eighty-five percent of affected patients, the limbs on one side of the body are affected with these vascular lesions. Usually one leg is affected, although an arm, leg, or both may be involved. Dilated varicose veins tend to develop as substitute channels for obstructed underlying veins during the first years of life. The underlying veins may be absent or underdeveloped and are often constricted by fibrous bands. Gradual bone and soft tissue overdevelopment may occur underneath the abnormal vessel masses. An arm or leg (or both), is often lengthened to some degree and may be enlarged in circumference as well. Varicose veins are present in all patients, although they may be hidden by swelling. In a few cases, swelling may occur as a result of compression or malformations of lymph vessels. Occasionally wasting (atrophy) may occur in the affected limb. Parkes-Weber Syndrome is a subdivision of Klippel-Trenaunay Syndrome characterized by direct blood flow from veins to arteries, bypassing the capillary networks (arteriovenous shunts). A variety of complications can result from Klippel-Trenaunay Syndrome. The overdevelopment of a leg can cause compensatory curvature of the spine (Scoliosis) to occur. Varicose veins can lead to skin ulcerations, swelling and changes associated with constricted blood flow. Other possible dermatological changes may include eczema, atrophy, flesh colored warts, connective tissue inflammation (cellulitis), and profuse sweating in overlying skin areas. Veins may become inflamed and possibly blocked by a blood clot (Thrombophlebitis), but the clot is usually stationary and carries little danger of traveling to the lungs. Unexpected bleeding may develop in the abnormal blood vessels and/or capillaries due to diminished amounts of clotting factors in circulating blood. When certain abdominal veins become dilated, abnormal vein drainage may lead to bleeding in the rectum, vagina, area around the vagina (vulva), or bladder. Abnormal growths in the bladder and colon may lead to bleeding as well, and may compress the spinal cord possibly causing partial paralysis. Other symptoms which may be associated with Klippel-Trenaunay Syndrome include the presence of extra fingers with or without webbing, dilated veins in the lungs, partial overgrowth of the face without the associated port wine stain birthmark, an open spine (spina bifida), absence of the opening in the ear canal, absence of fingers or toes, an abnormally small number of clotting platelets in circulating blood (thrombocytopenia), an abnormally low concentration of a clotting factor in circulating blood plasma (hypofibrinogenemia), congenital dislocation of the hips, exceptionally large feet, and bilateral undescended testes in males. A few cases of this disorder have occurred in conjunction with Sturge-Weber Syndrome. (For more information on Sturge-Weber Syndrome, see the Related Disorders section of this report.) Causes The exact cause of Klippel-Trenaunay Syndrome is not known, although it is presumed to be genetic. Symptoms may develop due to a defect in fetal development or a hereditary embryonic tissue weakness. Affected Population Klippel-Trenaunay Syndrome is a rare disorder affecting males and females in equal numbers. The disorder occurs worldwide. Related Disorders Symptoms of the following disorders can be similar to those of Klippel-Trenaunay Syndrome. Comparisons may be useful for a differential diagnosis: Sturge-Weber Syndrome is usually a dominant hereditary disorder in which a port wine colored stain (angioma) on the face, and intracranial abnormalities are present at birth. Generalized seizures and additional neurological symptoms usually occur between one and two years of age. Vascular lesions (telangiectasias and angiomas) in the brain usually involve the occipital or parieto-occipital regions. Glaucoma may be present in the eye located on the same side of the face where the port wine stain occurs. This eye may also be enlarged. The iris may remain blue, even though the other eye may change to another color as the infant matures. Sight in half of the visual field may be defective or absent in the affected eye. (For more information on this disorder, choose "Sturge-Weber" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Klippel-Trenaunay Syndrome is usually directed toward controlling symptoms. The port wine colored stain birthmark may be lightened or removed with argon, yellow light, or carbon dioxide laser surgery. Application of makeup may be helpful as a temporary measure for cosmetic reasons. When blood vessel abnormalities occur in the colon, surgical resection of the intestines may be required. Lesions in the bladder may be removed by means of a high frequency electrical current aided by imaging with a flexible lighted tube (cystoscope). Children with port wine stain birthmarks, minimal varicose veins and an oversized limb with a discrepancy of less than one centimeter usually require no surgical intervention. For patients with marked presence of varicose veins, wearing elastic support stockings may be helpful. Discrepancies in leg length may be corrected by placing a lift in the shoe on the healthy foot to prevent compensatory curvature of the spine (scoliosis). Diuretics, antibiotics, or iron supplements may be required for patients with complications involving blood cell or connective tissue inflammation (cellulitis), blood clots in veins (thrombophlebitis), recurrent bleeding or anemia. Ulcerations or eczema may require local treatment prescribed by a dermatologist. Surgical removal or stripping of varicose or underlying veins may not be recommended because of possible complications or recurrences. Orthopedic procedures to correct extreme overgrowth of an affected limb may include surgery. If a discrepancy in leg length is found, X-rays should be taken and compared every six months to determine timing of surgery to correct the bone overgrowth. Therapies: Investigational The Flashlamp-Pulsed Tunable Dye laser is showing very good results in the treatment of port wine stain in the skin of children under age eighteen. This treatment has shown little or no side effects. This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Klippel-Trenaunay Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Klippel-Trenaunay Syndrome Support Group 4610 Wooddale Ave. Edina, MN 55424 (612) 925-2596 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The Sturge-Weber Foundation P.O. Box 460931 Aurora, CO 80046 (303) 360-7290 (800) 627-5482 Sturge-Weber Support Group 2036 Ridgewood Way Bountiful, Utah 84010 (801) 292-8228 (801) 292-6639 Nevus Network 1400 S. Joyce St., #C1201 Arlington, VA 22202 (703) 920-2349 (405) 377-3403 Giant Congenital Pigmented Nevus Support Group 12 Twixt Hill Rd. Ridgefield, CT 06877 (203) 438-3863 Nevus Support Group 58 Necton Rd. Wheathampstead, Herts AL4 8AU England For Information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CT FINDINGS IN SPLENIC HEMANGIOMAS IN THE KLIPPEL-TRENAUNAY-WEBER SYNDROME: R.L. Pakter, et al.; J Comput Assist Tomogr (Jan.-Feb. 1987, issue 11(1)). Pp. 88-91. A RETROMEDULLARY ARTERIOVENOUS FISTULA ASSOCIATED WITH THE KLIPPEL SYNDROME: A CLINICOPATHOLOGIC STUDY: N. Benhaiem-Sigaux, et al.; Acta Neuropathol (Berl) (1985, issue 66(4)). Pp. 318-324. CORRECTION OF LEG INEQUALITY IN THE KLIPPEL-TRENAUNAY-WEBER SYNDROME: M. Peixinho, et al.; Int Orthop (1982, issue 6(1)). Pp. 45-47. SURGICAL IMPLICATIONS OF KLIPPEL-TRENAUNAY SYNDROME: Peter P. Gloriezk, et al.; Ann Surg (March 1983, issue 197). Pp. 353. Klippel-Trenaunay Syndrome + +pagetitle 453: Klippel-Trenaunay Syndrome 03908.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 872: Kluver-Bucy Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Kluver-Bucy Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Bilateral Temporal Lobe Disorder Information on the following diseases can be found in the Related Disorders section of this report: Pick's Disease Alzheimer's Disease Korsakoff's Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Kluver-Bucy Syndrome is a very rare cerebral neurological (brain disorder. Major symptoms may include an urge to put all kinds of objects into the mouth, memory loss, extreme sexual behavior, placidity, and visual distractibility. Symptoms Kluver-Bucy Syndrome is characterized by loss of memory. There may also be indiscriminate sexual behavior. However, other emotional behavior in response to stimuli is usually lacking (indifference or placidity). An almost uncontrollable appetite for food is also noted. There may also be other forms of dementia (loss of reason) as well. There is an excessive tendency to put all sorts of objects in the mouth, and easy extractability by external stimuli (particularly visual) is usually present. Causes Kluver-Bucy Syndrome is the result of damage to the temporal lobes of the brain. This may be the result of trauma to the brain itself, or the result of other degenerative brain diseases, or it can be caused by some forms of herpes simplex encephalitis (a viral brain infection). Affected Population Kluver-Bucy Syndrome is a very rare disease that affects males and females equally. Related Disorders Symptoms of the following disorders can be similar to those of Kluver-Bucy Syndrome. Comparisons may be useful for a differential diagnosis: Pick's Disease is a very rare progressive neurological disease affecting the lobes of the brain. Major symptoms may include changes in intellect, behavior and personality. It is characterized by progressive deterioration of intellect with changes in behavior and personality. The memory is usually intact in the early stages of the disease and there is less disorientation than in Alzheimer's Disease. However, in later stages there is loss of motor control as well as confusion and severe dementia. (For more information on this disorder, choose "Pick" as your search term in the Rare Disease Database). Alzheimer's Disease is a common progressive disorder of the brain affecting memory, thought and language. Groups of nerve endings in the cortex of the brains of people with Alzheimer's degenerates and disrupts the passage of electrochemical signals between the cells. Affected individuals become increasingly forgetful. As memory losses increase, personality, mood and behavior also tend to change. Judgement, concentration, speech and physical coordination may also be affected. (For more information on this disorder, choose "Alzheimer" as your search term in the Rare Disease Database). Korsakoff's Syndrome is a deficiency of vitamin B-1 which causes cardiovascular, central and peripheral nervous system disturbances. Early symptoms of Korsakoff's syndrome include fatigue, irritation, poor memory, difficulty sleeping, chest pain, abdominal discomfort, poor appetite and constipation. Later symptoms are principally cardiovascular and neurological. (For more information on this disorder, choose "Korsakoff" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Kluver-Bucy is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Kluver-Bucy Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Alzheimer's Disease and Related Disorders Association, Inc. National Headquarters 919 N. Michigan Ave., Suite 1000 Chicago, IL 60611 (312) 335-8700 (800) 272-3900 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2080-2087. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 360-363, 451-452. THE MERCK MANUAL OF GERIATRICS, 1st Ed.; William B. Abrams, M.D. and Robert Berkow, M.D., Editors; Merck Sharp & Dohme Research Laboratories, Rahway, NJ, 1990. Pp. 946. KLUVER-BUCY SYNDROME WITH SEVERE AMNESIA SECONDARY TO HERPES ENCEPHALITIS, Conlon, P. et al.; Can J Psychiatry, November, 1988, (issue 33, (8)). Pp. 754-756. KLUVER-BUCY SYNDROME. A CASE REPORT., Fragassi, NA, et al.; Acta Neurol, April, 1990, (issue 12 (2)). Pp. 138-142. Kluver-Bucy Syndrome pagetitle 872: Kluver-Bucy Syndrome 03909.TXT @!Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 12: Gaucher Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Gaucher Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Acid Beta-glucosidase deficiency Familial Splenic Anemia Cerebroside Lipidosis Cerebrosidosis Gaucher-Schlagenhaufer Glucocerebrosidase deficiency Glucocerebrosidosis Glucosyl Ceramide Lipidosis Histiocytosis, lipid, kerasin type Norrbottnian Gaucher Disease DISORDER SUBDIVISIONS: Type I Gaucher Disease also known as Non-Neuronopathic Chronic, Adult Gaucher Disease or Noncerebral Juvenile Gaucher Disease Type II Gaucher Disease also known as Neuronopathic Acute or Infantile Gaucher Disease Type III Gaucher Disease also known as Subacute Neuronopathic, Juvenile Gaucher Disease, or Adult Cerebral Gaucher Disease Information on the following diseases can be found in the Related Disorders section of this report: Sandhoff Disease Hajdu-Cheney Syndrome Hepatic Fibrosis, Congenital Osteonecrosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Gaucher disease is the most common of the lipid storage diseases (which include Tay-Sachs, Fabry's, and Neimann-Pick diseases). Lipids are various fats or fat-like substances in the body. Lipids are stored by the body to be used as energy at a later time. There are three forms of Gaucher disease: Type I (nonneuroleptic); Type II (acute neuroleptic, or infantile cerebral); Type III (subacute neuroleptic). Major symptoms include a swollen abdomen, bone deterioration and acute attacks of bone pain. Symptoms In Type I Gaucher disease, bone deterioration is the most common symptom. Other symptoms include gross enlargement of the liver (hepatomegaly) and/or the spleen (splenomegaly) and a low level of iron in the red blood cells (anemia). People with Gaucher disease usually appear to have a very swollen abdomen due to enlarged internal organs. In Type II Gaucher disease, patients may have an enlarged liver and/or spleen and symptoms that involve the central nervous system (neurological manifestations). The symptoms may include overextension (hyperextension) of the neck, a stiff neck, general feeling of tiredness, and an inability to move and respond appropriately to outside stimulus (catatonia). The eyes may be crossed (strabismus) and there may be an increase in the deep reflexes of the body. Patients with Type II Gaucher may also have muscle spasms in the voice box (laryngismus). Mental retardation may also be present. In Type III Gaucher disease, patients usually experience symptoms that are similar to those of Type I but also include central nervous system symptoms. These may include seizures, mental retardation, and abnormal movements of the eyes, arms, legs, and head. A diagnostic test is available to detect affected people and carriers of this disorder. This condition may also be diagnosed in pregnant women by testing the cells in the fluid that surrounds the fetus (amniocentesis). Causes Most types of Gaucher disease are inherited as an autosomal recessive trait. Symptoms develop due to a failure to produce a sufficient amount of the enzyme glucocerebrosidase. All three different types of Gaucher disease are characterized by the presence of fat laden "Gaucher cells". As seen under a microscope, the cells appear very large and round and have the appearance of wrinkled tissue paper or "crumpled silk". The defective gene that causes Gaucher disease and controls the enzyme glucocerebrosidase is thought to be located at the q21-q31 region of chromosome 1. It is thought that different mutations in this gene are associated with different types of Gaucher disease. In 1991 an atypical autosomal dominant form of Gaucher was identified in a female patient. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Gaucher disease Type I affects males and females in equal numbers. Onset can be at any age although most people are in their late teens when they are initially diagnosed. A high proportion of Ashkenazi Jews are affected with this disorder. Type II Gaucher disease is a rarer form with symptoms that usually appear in the first few months of life. Both males and females can have this disorder although a slightly higher number of males are diagnosed than females. Type III is the rarest form of Gaucher disease. The age of onset can be highly variable but generally begins in during childhood or adolescence. Both sexes can be affected. It has been estimated that all types of Gaucher disease together may affect between 20,000 to 40,000 people worldwide. Related Disorders Symptoms of the following disorders can be similar to those of Gaucher disease. Comparisons may be useful for a differential diagnosis: Sandhoff Disease is a severe form of Tay-Sachs disease. It is a progressive, inherited, lipid storage disorder that leads to the destruction of the central nervous system. The first symptoms usually occur in the third to sixth month of life. These symptoms may include feeding problems, general tiredness (lethargy) and a marked "startle" response to sounds. Cherry red spots are usually seen on the skin. (For more information on this disorder, choose "Sandhoff Disease" as your search term on the Rare Disease Database). Hajdu-Cheney Syndrome is a rare disorder that affects the tissue that supports and joins other body tissue and organs (connective tissue). The most distinctive symptom of this disorder is a condition in which the palms of the hands and the soles of the feet have ulcerating tissue (lesions). This occurs along with a softening and destruction of the bones. There may also be abnormal development of other bones, joints and teeth. There is a decrease in bone mass and changes in the skull and jawbone. (For more information on this disorder, choose "Hajdu-Cheney" as your search term in the Rare Disease Database). Hepatic Fibrosis (Congenital) is a rare inherited disorder that affects both the liver and the kidneys. The symptoms, which usually occur in childhood, may include a swollen abdomen, a firm enlarged liver (hepatomegaly), and the vomiting of red blood due to bleeding in the stomach and intestines. Although liver function tests are usually normal, a biopsy can reveal the presence of fiberlike connective tissue that spreads through the liver. (For more information on this disorder, choose "Hepatic Fibrosis" as your search term in the Rare Disease Database). OSTEONECROSIS is a slowly progressive disorder of bone destruction. It is often due to inadequate blood supply to a bone. The ends of the long bones are the most commonly affected (i.e. femur and humerus). This disorder may cause pain in the hips, knees, and shoulders. This pain generally occurs when standing, walking or lifting. The pain may worsen and eventually be present during rest or sleep. Other symptoms may include muscle spasms, joint stiffness, and a limitation of range of movement. (For more information on this disorder, choose "Osteonecrosis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Gaucher Disease may involve the removal of the spleen (splenectomy) if circumstances warrant it. Joint replacements for hips, knees, ankles, shoulders, elbows and wrists may also be considered if bone destruction has occurred. The orphan drug Ceredase (glucocerebrosidase/beta-glucosidase), which is a placenta-derived enzyme, was approved by the FDA in April 1991 for the treatment of Type I Gaucher disease. For further information physicians may contact: Genzyme Corp. 75 Kneeland St. Boston, MA 02111 (800) 332-1042 Genetic counseling and testing may be of benefit for patients and their families. Therapies: Investigational Dr. Edward Ginns is developing a biotechnology version of the enzyme (PEG-glucocerebrosidase) that may last longer in the body, thereby reducing the cost to people with Gaucher Disease. Dr. Ginns is searching for patients who are not taking Ceredase who might be interested in participating in this clinical trial. For more information, please contact: Dr. Edward Ginns Section on Molecular Neurogenetics, Clinical Neuroscience Branch Bldg. 10, Rm. 4N214 NIH/National Intstitute of Mental Health (NIMH) Bethesda, MD 20892 (301) 496-0373 A clinical research program has been established at the National Institutes of Health in Bethesda, Maryland, to study neurogenetic and lysosomal storage disorders. Gaucher Disease is a high priority of this group of diseases, including mucopolysaccharidoses, glycogen storage disorders, and other related neurogenetic diseases. The goal of this program is to further the fundamental understanding of inherited diseases as an approach to improved diagnosis and treatment. Patients included in these studies may be evaluated at the Genetics Clinic as well as the Molecular Neurogenetics Unit, Clinical Neuroscience Branch, National Institute of Mental Health (NIMH), and the Human Genetics Branch of the National Institute of Child Health and Human Development (NICHHD). For further information, please contact: Patient Care Coordinator Human Genetics Branch NIH/National Institute of Child Health and Human Development (NICHD) Bethesda, MD 20892 (301) 496-7661 Research is ongoing in the areas of recombinant DNA, bone marrow transplantation, gene therapy and enzyme replacement therapy, the mechanism of action of the heat-stable activator protein, and cloning. A new form of the enzyme is being developed through biotechnological engineering, and is being tested in clinical trials. Contact: NIH/National Institutes of Health Building 10, Rm. 4N248 9000 Rockville Pike Bethesda, MD 20982 (301) 496-1465 Bone marrow transplantation is being tested as a treatment for Gaucher Disease. Bone marrow transplantation is not recommended for patients with relatively advanced neurological symptoms. More research is needed to determine the safety and effectiveness of this treatment. Other clinical research is being pursued at: University of Pittsburgh Medical School Dept. of Biochemistry Pittsburgh, PA 15261 (412) 624-2505 Att: Robert Glew, M.D. RESEARCH: Characterization of lipid requirements of enzymes and investigation of the mechanism of action of the heat-stable activator protein. Scripps Research Institute 10666 N. Torrey Pine Road La Jolla, CA 92037 (619) 455-9100 Att: Ernest Beutler, M.D. RESEARCH: Studying protein defects of enzymes using antibodies and monoclonal antibodies, cloning enzyme genes, developing method for introducing genes back into protein's cells, and treating patients with low doses of Ceredase. Mount Sinai Hospital Division of Medical Genetics Annenberg Building, Room 17-76 100th Street and 5th Avenue New York, NY 10029 Att: Robert Desnick, M.D. RESEARCH: Replacement enzymes in bone marrow transplantations. Robert E. Lee, M. D. of the University of Pennsylvania is compiling a database dealing with the disease. Contact: University of Pittsburgh Medical School Dept. of Pathology Pittsburgh, PA 15261 Att: Robert E. Lee, M. D. Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. A clinical trial using human glucocerebrosidase for treatment of Gaucher's Disease is being organized by Drs. Ellen Sidransky and Edward Ginns at NIMH. The PEG-glucocerebrosidase is being developed by Enzon, Inc., and has received orphan drug status. It is hoped that PEG-glucocerebrosidase will lead to a decrease in symptoms. For further information, please contact: Ms. E. Alzona, Clinical Neuroscience Branch Bldg. 10, Rm. 3N 256 9000 Rockville Pike Bethesda, MD 20892 (301) 496-0373 FAX (301) 402-6438 This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Gaucher disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Gaucher Disease Foundation 19241 Montgomery Village Ave., Suite E21 Gaithersburg, MD 20879 (301) 990-3800 Tay-Sachs & Allied Diseases Association, Inc. 2001 Beacon Street, Rm. 304 Brookline, MA 02164 (617) 277-4463 or (617) 277-3965 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1200-1204. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1091-1092. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 769-770. GAUCHER'S DISEASE: NEW MOLECULAR APPROACHES TO DIAGNOSIS AND TREATMENT, E. Buetler; Science (May 1992; 256 (5058)): Pp. 794-799.)): Pp. 794-799. Gaucher Disease ?pagetitle 12: Gaucher Disease 03769.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 660: Gianotti-Crosti Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Gianotti-Crosti) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Acrodermatitis, Papular Infantile Crosti-Gianotti Syndrome Acrodermatitis, Infantile Lichenoid Information on the following diseases can be found in the Related Disorders section of this report: Hepatitis-B Virus Coxsackievirus Cytomegalovirus Infectious Mononucleosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months to nine years. Major symptoms may include blisters on the skin of the legs, buttocks and arms. The disorder is usually preceded by a viral infection. Symptoms Gianotti-Crosti Syndrome is characterized by blisters on the skin that may or may not itch. They are usually found on the face, buttocks, arms or legs. The blisters consist of large, flat-topped, fluid filled sacks. They usually occur along with upper respiratory tract infection. The blisters usually last from twenty to twenty-five days; they do not usually reoccur. There may be an enlargement of the lymph nodes in the trunk area of the body. Gianotti-Crosti Syndrome usually occurs after a bout with a viral disease such as: Coxsackievirus, Hepatitis-B, Infectious Mononucleosis or Cytomegalovirus, or after vaccination with a live virus serum. Causes The cause of Gianotti-Crosti Syndrome is thought to be a reaction to a previous viral infection. In many countries the predisposing cause is usually the Hepatitis-B virus. In North America other viruses are more often the predisposing cause. The exact reasons for this cause and effect situation are unknown. Affected Population Gianotti-Crosti Syndrome usually affects children between the ages of nine months and nine years of age. It affects males and females in equal numbers. Although the disorder is regularly associated with Hepatitis-B infections in other countries, in North America it is rarely the cause. Related Disorders The following viral infections can cause Gianotti-Crosti. Hepatitis-B Virus (HBV) is one of three viral agents which causes inflammation of the liver known as "Hepatitis" or "diffuse hepatocellular inflammatory disease". Hepatitis-B is characterized by fever, nausea, vomiting, and yellow discoloration of the skin (jaundice). In its most serious form Hepatitis-B can become a chronic infection, or may cause liver cancer. The hepatitis-B virus can be passed from mother to unborn child, and is highly contagious through bodily fluids such as blood, semen and possibly saliva. It is often spread from person to person through intravenous drug use. (For more information on this disorder, choose "Hepatitis" as your search term in the Rare Disease Database). Coxsackievirus is characterized by infections that occur primarily during the summer. It affects mostly young children, especially boys, and includes fever, sore throat, vomiting, headache, respiratory signs and symptoms, diarrhea, abdominal pain, rash and earache. Cytomegalovirus Infection (CMV) can occur congenitally, postnatally or at any age. CMV ranges in severity from a silent infection without consequences, to a disease manifested by fever, hepatitis, and (in newborns) severe brain damage, stillbirth or perinatal death. In severe cases hemorrhaging, anemia, and liver damage can occur. In infants it may cause low birth weight, fever, hepatitis, blindness, deafness, or seizures. (For more information on this disorder, choose "Cytomegalovirus" as your search term in the Rare Disease Database). Infectious Mononucleosis is characterized by an incubation period of from thirty to fifty days in young adults, and a shorter time in children. The symptoms include feeling unwell for a few days, headache, fever and sore throat, with extreme fatigue. The glands in the neck, armpits and groin swell and the eyes get puffy. There may be tonsillitis, rash, loss of appetite, and sensitivity to light. Other organs in the body may be affected. The spleen and liver may become enlarged. This infection is caused by the Epstein-Barr virus. (For more information on this disorder, choose "Mono" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Gianotti-Crosti Syndrome is symptomatic and supportive. Symptoms disappear usually within twenty to twenty-five days without treatment. Therapies: Investigational This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Gianotti-Crosti Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Institute of Allergy and Infectious Disease 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References THE GIANOTTI-CROSTI SYNDROME. D. Rubenstein, et al.; Pediatrics (March, 1978, issue 61 (3)). Pp. 433-437. GIANOTTI-CROSTI SYNDROME. A REVIEW OF TEN CASES NOT ASSOCIATED WITH HEPATITIS-B. K.L. Spear, et al.; Arch Dermatol (July, 1984, issue 120 (7)). Pp. 891-896. GIANOTTI-CROSTI SYNDROME; A STUDY OF 26 CASES. A. Taieb, et al.; Br J Dermatol (July, 1986, issue 115, (1)). Pp. 49-59. Gianotti-Crosti Syndromeg pagetitle 660: Gianotti-Crosti Syndrome 03770.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 492: Giardiasis _________________________ ** IMPORTANT ** It is possible the main title of the article (Giardiasis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Lambliasis Beaver Fever Information on the following diseases can be found in the Related Disorders section of this report: Amebiasis Hookworms Threadworm (Strongyloidiasis) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Giardiasis is an infectious disorder of the gastrointestinal tract caused by a genus of protozoan parasite known as Giardia lamblia. This disorder may not cause noticeable symptoms, but when many of these parasites are present, absorption of nutrients is diminished. Additionally, acute gastrointestinal discomfort, chronic or acute diarrhea, and other digestive system abnormalities can occur. This disorder has occurred in epidemics associated with contaminated water in which infected beavers live because parasites in the cyst stage from beavers are infectious to humans. These cysts can survive in cold water for several months. Symptoms Giardiasis may not cause symptoms if a patient has ingested only a few protozoan parasites known as Giardia lamblia. When there is an initial concentration of many parasites in the intestines, acute abdominal discomfort, diarrhea, excessive gas (flatulence), and foul-smelling stools may result. When recurrent unexplained abdominal discomfort develops along with these symptoms, Giardia parasites may be lodged in the duodenum. Acute attacks usually last approximately three or four days, although symptoms may persist for several weeks. Infection may resolve spontaneously in some patients, but treatment is usually required. In long-term infestation, patients may experience chronic diarrhea, malabsorption of nutrients, weight loss, upper abdominal (epigastric) cramping, loss of appetite (anorexia), nausea, vomiting, and/or excretion of fat in the stools. The disease affects only the intestines. Causes Giardiasis is caused by the protozoan parasite known as Giardia lamblia. Humans are infected by the parasites in the cyst stage (e.g., when they are excreted by beavers. After beavers have contaminated the water supply in which they live, cysts often exist for several months, even in cold water. Person-to-person (fecal-oral or sexual contact) and foodborne cases also occur. Giardiasis has also been known to be transferred to humans by dogs and other animals. Affected Population Giardiasis affects persons coming in contact with the protozoan parasite known as Giardia lamblia. This disorder occurs worldwide. Epidemics have occurred in the United States when parasitic cysts are excreted by beavers in public water reservoirs. Epidemics have also occurred in day care centers and custodial institutions such as prisons and long-term care facilities. Related Disorders Symptoms of the following disorders can be similar to those of Giardiasis. Comparisons may be useful for a differential diagnosis: Amebiasis is a disease of the intestinal tract caused by the protozoan parasite, Entamoeba histolytica. The infection is spread person-to-person or indirectly via contaminated food or water. The organism invades the colon and rectum and produces ulcers and inflammation. Symptoms begin gradually with an increasing number of stools reaching as many as fifteen per day. Stools may be semi-solid to liquid and they often carry blood. Fever, local bowel tenderness and cramping abdominal pain occur. If the liver is affected, tenderness will develop in that area. In the United States, Amebiasis primarily affects visitors returning from countries with poor sanitation. Treatment with the drug metronidazole (Flagyl) is often effective in eliminating the disorder. Hookworms are a parasitic organism which penetrate the skin and migrate to the intestines where they attach themselves by their mouth and suck blood. Abdominal pain is the most common symptom, but an asymptomatic anemia which can limit growth in children may also occur. Approximately twenty-five percent of the world population may be infected with hookworms. Parasites attach themselves to a person walking barefoot in soil contaminated with hookworm larvae. Several effective drugs are available for treatment. Threadworm (Strongyloidiasis) is a parasitic intestinal disorder characterized by upper abdominal (epigastric) pain and tenderness, vomiting, and diarrhea. This disorder is usually found in the tropics in areas of poor sanitation. It can exist in crowded and unsanitary institutions anywhere. Threadworm can persist for decades. Treatment with the drug thiabendazole is often effective for Threadworm patients. Therapies: Standard The treatment of choice for Giardiasis patients is the drug quinacrine. Mild cases may respond to the drug furazolidone (Furoxone). The most important factor for preventing this disorder is proper treatment of infected water. Chlorination may not kill cysts; sedimentation, flocculation and filtration should also be performed. Water can be boiled for one minute, or mixed with halazone or iodine to eliminate contamination. Travelers to areas with contaminated water should drink only boiled or treated water and should not consume uncooked fruit or vegetables. Therapies: Investigational Treatment with the drugs tinidazole, ornidazole or metronidazole for Giardiasis may be effective. However, these medications have not yet been approved for use in the United States for this condition. This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Giardiasis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1785-1786. MANAGEMENT OF GIARDIASIS: E.D. Gorski; Am Fam Physician (November 1985, issue 32(5)). Pp. 157-164. SELECTIVE PRIMARY HEALTH CARE: STRATEGIES FOR CONTROL OF DISEASE IN THE DEVELOPING WORLD. XIX. GIARDIASIS: D.P. Stevens; Rev Infect Dis (July 1985, issue 7(4)). Pp. 530-535. TREATMENT OF INTESTINAL E. HISTOLYTICA AND G. LAMBLIA WITH METRONIDAZOLE, TINIDAZOLE AND ORNIDAZOLE: A COMPARATIVE STUDY: S. Bassily, et al.; J Trop Med Hyg (February 1987, issue 90 (1)). Pp. 9-12. Giardiasisy pagetitle 492: Giardiasis 03771.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 317: Gilbert Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Gilbert Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Gilbert's Disease Gilbert-Lereboullet Syndrome Constitutional Liver Dysfunction Hyperbilirubinemia 1 Unconjugated Benign Bilirubinemia Icterus Intermittens Juvenilis Familial Jaundice Meulengracht's General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. One of a benign group of metabolic abnormalities, Gilbert Syndrome is a hereditary disorder involving a defect in the clearance of bile pigment (bilirubin) from the liver. This syndrome is common but innocuous and easily controllable. It is marked by a persistent yellow skin coloration (jaundice) which may fluctuate in severity. Symptoms The onset of Gilbert Syndrome is shortly after birth, but may not be recognized for many years. A mild jaundice will appear at about age ten and is more common in males than females. There is a general lack of awareness of the jaundice initially. The jaundice may increase stress, strain, and exposure to cold; fatigue, nausea, abdominal pain, and, rarely, diarrhea may also occur. The mild jaundice may be especially evident on the face, palms, and soles of the feet (plantar) surfaces. Formation of pigmented skin thickenings similar to moles (nevi) and soft yellow spots (xanthelasma) on eyelids can occur. An increase in pigmentation on exposure to light and heat are other symptoms of this liver disorder. Slowing of the heartbeat (bradycardia), low body temperature (hypothermia), neuromuscular hypersensitivity, and migraine headaches may also be present. Enlargement of the liver and spleen are rarely seen. Symptoms and jaundice become more pronounced following exertion, alcohol intake, and/or intercurrent infections. A slight reduction of red cell survival is found in fifty percent of patients. Causes Gilbert Syndrome is inherited as an autosomal dominant disease, but a clear genetic pattern is often hard to establish. A misdiagnosis of chronic hepatitis is sometimes made. (In autosomal dominant disorders, a single abnormal gene, contributed by either parent, "overrides" the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a 50% chance of inheriting the disorder. Males and females will be affected in equal numbers.) A defect in uptake and clearance of unconjugated bilirubin from plasma by the liver is a possible cause of this disorder. Attempts to find a consistent impairment of bilirubin conjugation or decrease of glycuronyl transferase activity have failed. Reduced bilirubin uridine diphosphate (UDP) glucuronyl transferase activity could possibly explain hyperbilirubinemia and impaired clearance of pigment, but it is not the only mechanism responsible for the syndrome. Affected Population Gilbert Syndrome affects both sexes, but is more common in males, appearing at about the age of ten years. The male to female ration is 4:1. Related Disorders Dubin-Johnson syndrome is due to an inborn error of metabolism, and is an autosomal recessive disorder. There is a defect in excretion of conjugated bile pigment (bilirubin) by the liver, and other organic metabolic dysfunction. Usually no noticeable symptoms appear (asymptomatic), except for vague gastrointestinal complaints and mild chronic or intermittent jaundice. Rotor Syndrome is a variant of Dubin-Johnson syndrome. Less frequent than Dubin-Johnson, it is also usually mild and involves much the same symptoms. These include occasions of pain in the right upper quadrant and mild jaundice. Enlargement of the liver may also occur. The prognosis is generally favorable. Crigler-Najjar syndrome is a congenital non-hemolytic jaundice in infants. This is a very rare disease that can be inherited through both dominant and recessive traits. The dominant type involves a later onset of jaundice, an absence of eye problems or destructive changes in the brain. The recessive form usually involves severe deep jaundice from birth, a visual disorder, and some changes in the brain function. Hyperbilirubinemia, Arias Type, is a less severe type of liver dysfunction which differs from similar disorders in mode of inheritance, lack of brain damage, and favorable prognosis. Therapies: Standard In Gilbert Syndrome, phenobarbitol reduces the bile pigment (bilirubin) level and jaundice decreases. Careful regulation of the diet is important as fasting increases hyperbilirubinemia. Prognosis is good since the disease is benign. Therapies: Investigational Research has been done on Gilbert Syndrome patients to determine the impairment of bile pigment (bilirubin) uptake or decrease of glucuronyl transferase activity. Understanding these mechanisms could lead to new forms of treatment. Clinical trials of the orphan drug flumecinol (Zixoryn) for treatment of hyperbilirubinemia, a symptom of Gilbert Syndrome, in infants who are unresponsive to phototherapy are being conducted. For more information, physicians can contact: Farmacon, Inc. P.O. Box 586 Westport, CT 06881 For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Gilbert Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Liver Foundation 998 Pompton Ave. Cedar Grove, NJ 07009 (201) 857-2626 (800) 223-0179 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 Children's Liver Foundation 14245 Ventura Blvd. Sherman Oaks, CA 91423 (818) 906-3021 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 6th ed.: Victor A. McKusick; Johns Hopkins University Press, 1983; P. 283. Berk, P.D.; Martin, J.F.; Blaschke, T.F.; Scharschmidt, B.F.; Plotz, P.H. Unconjugated Hyperbilirubinemia: Physiologic Evaluation and Experimental Approaches to Therapy. ANN INTERN MED 1975 April:82(4):552-570. Gilbert Syndrome pagetitle 317: Gilbert Syndrome 03772.TXT )j)Copyright (C) 1986, 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 281: Glioblastoma Multiforme _________________________ ** IMPORTANT ** It is possible the main title of the article (Glioblastoma Multiforme) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Giant Cell Glioblastoma Spongioblastoma Multiforme General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Glioblastoma multiforme is a highly malignant, rapidly infiltrating, primary brain tumor, with tentacles that may invade surrounding tissue. This provides a butterfly-like distribution pattern through the white matter of the cerebral hemispheres. The tumor may invade a membrane covering the brain (the dura), or spread via the spinal fluid through the ventricles of the brain. Spread of the tumor (metastasis) outside the brain and spinal cord is rare. Symptoms Glioblastoma Multiforme grows very quickly by spreading into normal tissue. The first symptoms of this tumor are commonly those of increased cranial pressure. This pressure results from the inability of the bones of the skull to expand to accommodate the growing tumor. A headache which is not localized and is worse in the morning, may be accompanied by vomiting. Nausea is rarely present. Subtle personality changes may precede these symptoms. Glioblastoma Multiforme may occur in any area of the cerebral hemispheres, but is most common in the frontal, temporal and parietal lobes, causing symptoms specific to each location. Frontal lobe tumors usually cause intellectual disabilities, such as memory impairment. Patients with this kind of tumor may show little or no emotions (flat personality effect). Symptoms may also include seizures (convulsions) and paralysis (hemiplegia) of the side of the body opposite the tumor location. Temporal tumors initially present fewer symptoms, but may include seizures, motor disturbances such as lack of coordination of body parts, and language interpretation disturbances. Parietal tumors are usually characterized by writing disturbances (agraphia), sensory changes such as tingling sensations (paresthesias), spatial disorientation or loss of awareness of the position of parts of the body, and seizures. Causes The cause of Glioblastoma Multiforme, like most brain tumors, is unknown. Cases of familial tumors have been reported, but a hereditary mode of transmission has not yet been proven. Occupational chemical factors have been associated with some tumors such as employment in rubber manufacturing industries, vinyl chloride exposure, and farmers exposed to chemical sprays. It has been suggested that children exposed to lead or who have used barbiturates may be at a slightly higher risk to get Glioblastomas. Some recent research suggests that glioblastoma may be caused by a rare virus, but more studies are needed to prove or disprove this theory. Affected Population Glioblastoma Multiforme occurs most often in people between the ages of 48 and 60, although it can also affect pre-teenage children. It affects twice as many males as females, and whites more frequently than nonwhites. Blood type A males appear to be at a higher risk. Related Disorders Malignant Astrocytoma is a less malignant form of Glioblastoma. (For more information, choose "astrocytoma" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of this disorder may include surgery, radiation, or chemotherapy. SURGERY--The treatment of choice for accessible Glioblastoma Multiforme tumors is surgery. Accessible tumors are those which can be operated on without causing unacceptably severe damage to the brain. If the tumor is not accessible, a biopsy and steroid medications to control swelling may be recommended instead of surgical removal. The biopsy results may indicate a tumor that is amenable to other treatment methods. A subtotal decompressive resection, or partial removal of tumor tissue, may be performed to decrease symptoms and also improve the chances for other therapies to be effective. In situations where tumor has extensively invaded the brain, either of these therapies is used primarily for relief of symptoms. If aggressive surgery or total resection is undertaken, the surgeon will attempt to remove all identifiable tumor, often using an operating microscope to better see tumor margins. In some cases, a laser and/or ultrasonic aspirator is used as well. Laser microsurgery has the advantage of being able to remove, by vaporization, some tissue beyond the tumor's border with the hope of removing microscopic tumor infiltrates with a minimal amount of damage to normal tissue. Glioblastomas usually cannot be totally removed because tumor spreading, too small for the surgeon to see, is usually present in the surrounding area. Aggressive resection reduces the number of tumor cells to a level where radiation therapy and chemotherapy can be more effective. If the tumor recurs, a second or even third operation may be performed. RADIATION--External radiation is usually recommended following surgery. It begins almost immediately, both to the tumor and to the entire brain. Whole brain irradiation is administered because the Glioblastoma tends to infiltrate widely. After radiation has reduced the number of tumor cells, chemotherapy is administered in an attempt to destroy any cells that remain. Chemotherapy may also be given during the course of radiation treatment. CHEMOTHERAPY--The drugs used in chemotherapy are cytotoxins, or cell poisons, which are capable of destroying cells. Cytotoxins are not completely tumor-cell specific, so they may also cause damage to normal tissue. The type of chemotherapeutic drug selected is determined by a neurooncologist who examines the grade of tumor, previous treatment and current health status of the individual with Glioblastoma Multiforme. A neurooncologist is a physician who has been specially trained and has a experience in treating brain tumors. The most commonly used drugs are BCNU and CCNU. Other drugs may be prescribed on an experimental basis. Therapies: Investigational One of the new experimental techniques for treatment of Glioblastoma Multiforme is brachytherapy, also called "interstitial radiation" or "seeding". Via a surgical procedure, radioactive pellets such as Iodine, Iridium or gold isotopes are implanted directly into the tumor. Brachytherapy is used primarily in recurrences when the tumor is confined to one side of the brain and measures less than 2 1/2 inches (about the size of an egg). Other investigational therapies include use of: 1) cell radiosensitizers to increase the effectiveness of radiation; 2) different types of radiation such as neutrons, heat (hyperthermia) and light (photoradiation); 3) intraoperative radiation; and 4) hyperfractionation. These treatments are ongoing research projects which are being clinically tested against Glioblastoma Multiforme cells. Immunotherapy aims to stimulate the body's defenses against the tumor. Using drugs such as interferon, levamisole, interleukin-2, thymosine, and BCG, it is hoped that the body's own immune system can be stimulated to fight the tumor. Clinical trials of the orphan drug sodium monomercaptoundecahydro-orate (Boralife), as an alternative to conventional photon therapy, are underway. For additional information, physicians can contact: Nuclear Medicine, Inc. 900 Atlantic Drive, NW Atlanta, GA 30332 A multitude of new drugs and drug combinations are being tested for effectiveness against Glioblastoma. Other research seeks to develop better methods of drug delivery, such as direct intra-arterial administration and blood brain barrier disruption to increase the amount of anticancer drug reaching the brain tissue. A new orphan drug and delivery system is being tested for the treatment of Glioblastoma and Astrocytoma. During surgery to remove the brain tumor, a biodegradable wafer containing a cancer fighting drug (BCNU) is implanted at the sight of the tumor. At least 220 patients are needed for a clinical trial of this drug. Those interested should have their physician contact Dr. James Kenealy, Nova Pharmaceutical Corp., 6200 Freeport Centre, Baltimore, MD, 21224 or phone 301-522-7000. This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Glioblastoma Multiforme, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Association for Brain Tumor Research 2910 West Montrose Ave. Chicago, IL 60618 (312) 286-5571 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) References About Glioblastoma Multiforme and Malignant Astrocytoma; D. P. Hesser et. al., eds.; Association for Brain Tumor Research (1985). Glioblastoma Multiforme *pagetitle 281: Glioblastoma Multiforme 03741.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 753 Fibromatosis, Congenital Generalized _________________________ ** IMPORTANT ** It is possible that the main title of the article (Congenital, Generalized Fibromatosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms CGF Myofibromatosis Desmoid Tumor Information on the following diseases can be found in the Related Disorders section of this report: Congenital Fibrosarcoma Gardner's Syndrome Neurofibromatosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Generalized Fibromatosis is a rare disorder characterized by multiple noncancerous tumors. It is an invasive and recurring disorder that can involve the bones, internal organs, skin and muscles. These tumors are usually present at, or may occur within a few months of birth. Symptoms Congenital Generalized Fibromatosis is a progressive congenital disorder that is characterized by benign tumors of the bones, internal organs, skin or muscles. The tumors can range from 3 cm. to 18cm. in size, and very often do not cause symptoms. Soft tissue and bony tumors will sometimes resolve without treatment. If the abdominal cavity or chest are involved, the tumors may cause an obstruction of the intestinal tract, constipation, diarrhea or respiratory difficulties. Although these types of tumors are not malignant, they can be disabling or life-threatening due to their locally invasive and recurring characteristics. Causes The exact cause of Congenital Generalized Fibromatosis is unknown. Some scientists believe it may be inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Congenital Generalized Fibromatosis is a rare disorder that affects newborn males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Congenital, Generalized Fibromatosis. Comparisons may be useful for a differential diagnosis: Congenital Fibrosarcoma is a rare, highly malignant bone tumor formed from the cells of connective fibrous tissue (fibroblasts). It usually occurs between the ages of 10 and 20, but can occur at any age. Gardner's Syndrome is a hereditary condition characterized by multiple benign growths on the mucous lining of the colon, bony tumors of the skull, fatty cysts in the skin, and extra teeth. Patients with Gardner Syndrome have a high probability of developing cancer during their middle years. (For more information on this disorder, choose "Gardener" as your search term in the Rare Disease Database.) Neurofibromatosis (NF) is a genetic disorder with highly variable manifestations which can affect many body systems. There are two different types; NF I and NF II. Onset is usually during childhood. The disease tends to become more active at puberty, during pregnancy, and at menopause. NF is characterized by multiple benign tumors on the nerves under the skin which can result in disfigurement, curvature of the spine and long bones, and other complications. NF II includes acoustic neuroma which can cause deafness. (For more information on this disorder, choose "Neurofibromatosis" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Congenital Generalized Fibromatosis usually consists of surgical removal of the tumor. Chemotherapeutic drugs such as vincristine, actinomycin D and cyclophosamide (VAC) may be prescribed alone or in conjunction with radiation therapy and surgery. Some tumors may disappear without treatment, but they should be closely followed by a physician. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational At the present time, a study is being conducted on the effectiveness of the drug tamoxifen in treating certain types of Fibromatosis. More research must be conducted to determine long-term safety and effectiveness of this drug. This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Generalized Fibromatosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Laura S. Nye Research Fund for Desmoid Tumors c/o Dr. David Fromm Harper Hospital 3390 John Rd. Detroit, MI 48201 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physicians Data Query), a computerized database designed to give the public, patients, and families, and health professionals quick and easy access to many types of information vital to patients with tumors. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor Islands call collect) For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 935. CHALLENGES IN THE TREATMENT OF CHILDHOOD FIBROMATOSIS. B. Rao, et al.; ARCH SURG (November 1987; issue 122 (11)). Pp. 1296-1298. NONSURGICAL MANAGEMENT OF CHILDREN WITH RECURRENT OR UNRESECTABLE FIBROMATOSIS. B. Raney, et al.; PEDIATRICS (March 1987; issue 79(3)). Pp. 394-398. INFANTILE (DESMOID TYPE) FIBROMATOSIS WITH EXTENSIVE OSSIFICATION. F. Fromowitz, et al.; AM J SURG PATHOL (January 1987; issue 11(1)). Pp. 66-75. CONGENITAL MULTIPLE FIBROMATOSIS (INFANTILE MYOFIBROMATOSIS). L. Burgess, et al.; ARCH OTOLARYNGOL HEAD NECK SURG (February 1988; issue 114 (2)). Pp. 207-209. REMISSION OF RAPIDLY GROWING DESMOID TUMORS AFTER TAMOXIFEN THERAPY. B. Ritter, et al.; CANCER (December 15, 1983; issue 52 (12)). Pp. 2201-2204. Fibromatosis, Congenital GeneralizedS V pagetitle 753 Fibromatosis, Congenital Generalized 03742.TXT %Copyright (C) 1991 National Organization for Rare Disorders, Inc. 266: Fibromyalgia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fibromyalgia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Fibromyositis Fibrositis Muscular Rheumatism Musculoskeletal Pain Syndrome Nonarticular Rheumatism Periarticular Fibrositis Rheumatoid Myositis Tension Myalgia Information on the following diseases can be found in the Related Disorders section of this report: Chronic Fatigue Syndrome Polymyalgia Rheumatica Polymyositis Rheumatoid Arthritis Sjogren Syndrome Temporomandibular Dysfunction General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fibromyalgia is a chronic disorder characterized by pain throughout much of the body. The pain may begin gradually or have a sudden onset. Other symptoms are muscle spasms, fatigue, muscle tissue stiffness and non-restorative (unrefreshing) sleep. The exact cause of this disorder is unknown. The terms Fibrositis, Fibromyositis, Periarticular Fibrositis and Rheumatoid Myositis are still being used by many to describe this condition. The ending of "itis" on each of these terms is actually incorrect. "Itis" means inflammation, and there is no inflammation in Fibromyalgia. The term Fibromyalgia has now become the accepted term, but many people continue to be diagnosed with the other synonyms. Tension Myalgia is another synonym that is currently being used. Symptoms Patients with Fibromyalgia may have a gradual or sudden onset of symptoms. The major symptom of this disorder is muscular pain. Areas which are frequently affected may include muscles in the back of the neck and shoulders, in the low back, the sides of the breast bone, and the bony points of the elbows, hips and knees. In addition, small specific areas called tender points, which are painful when pressure is applied, will be found by an examining physician. Other symptoms found in most patients with Fibromyalgia are: muscle spasms, fatigue, muscle stiffness and non-restorative (unrefreshing) sleep. Some patients with fibromyalgia may have chest pain, painful menstrual periods, difficulty concentrating, headaches, painful and/or frequent urination, diarrhea, constipation, numbness, dryness in the eyes and mouth, dizziness, swelling of a tendon (tendinitis), swelling of the connective tissue structure surrounding a joint (bursitis), depression and/or anxiety. Causes The exact cause of Fibromyalgia is not known. Researchers are studying serotonin, a chemical in the brain (neurotransmitter), to see if there is a disturbance in the messages sent between various parts of the central nervous system in people with Fibromyalgia. An imbalance of serotonin could have a hand in the increase of pain, depression and unrefreshing sleep associated with Fibromyalgia. Muscle tissue, hormonal and immunological influences, as well as the possibility of a virus triggering the disorder are all being investigated by researchers. Affected Population Fibromyalgia is diagnosed more frequently in females than in males. The majority of patients with this disorder will develop symptoms between the ages of 20 and 50 years. Fibromyalgia may also develop in children and teenagers, often being misdiagnosed as "growing pains". Related Disorders Symptoms of the following disorders can be similar to those of Fibromyalgia. Comparisons may be useful for a differential diagnosis: Chronic Fatigue Syndrome is a controversial disorder that is characterized by extreme fatigue that occurs after the abrupt onset of a flu-like illness. Symptoms may include muscle aches, a low grade fever, sore throat or swollen glands. The fatigue must persist for at least six months and must significantly limit daily activity. (For more information on this disorder, choose "Chronic Fatigue" as your search term in the Rare Disease Database). Polymyalgia Rheumatica is a disorder characterized by pain and stiffness in certain muscle groups without causing permanent weakness or atrophy. The major symptoms of this disorder are pain and stiffness in the neck, shoulders, upper arms, lower back, hips and thighs. The symptoms often appear suddenly and the stiffness is most severe in the morning. The pain of PMR is felt on both sides of the body. Fever, lack of appetite, fatigue, weight loss and depression may also be present. (For more information on this disorder, choose "Polymyalgia" as your search term in the Rare Disease Database). Polymyositis is a systemic connective tissue disorder characterized by inflammatory and degenerative changes in the muscles, leading to weakness and some degree of muscle atrophy. The areas principally affected are the hip, shoulders, arms, pharynx and neck. Other symptoms of Polymyositis may include fever, weight loss and occasional pain or tenderness in muscles or joints. The exact cause of this disorder is not known. (For more information on this disorder, choose "Polymyositis" as your search term in the Rare Disease Database). Rheumatoid Arthritis is an inflammatory autoimmune disease in which the body's natural defenses against foreign agents (antibodies & lymphocytes) attack healthy joints. This disorder is characterized by a lack of appetite, fatigue, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw and spine. (For more information on this disorder, choose "Arthritis" as your search term in the Rare Disease Database). Sjogren Syndrome is a degeneration of the mucous secreting glands, particularly the tear and saliva glands. It is sometimes associated with arthritis. There is often a gritty, burning sensation in the eyes due to the loss of lubrication. When the mouth becomes dry, chewing and swallowing food is difficult. The lack of saliva causes particles of food to stick to the cheeks, gums and throat. Other symptoms of Sjogren Syndrome include a weak voice, dental decay, sensitivity of the eyes to the light, swelling of the salivary glands, and dryness of the nose, skin and vagina. Fibromyalgia may occur in conjunction with Sjogren's Syndrome. (For more information on this disorder choose "Sjogren" as your search term in the Rare Disease Database). Temporomandibular Joint Dysfunction (TMJ) is a painful disorder of the jaw joint which is made worse during or after eating or yawning. This disorder may cause limited jaw movement and clicks and pops during chewing. In severe cases pain may radiate into the neck, shoulders and back, mimicking the pain of Fibromyalgia. (For more information on this disorder choose "Temporomandibular Joint Dysfunction" as your search term in the Rare Disease Database). Therapies: Standard Fibromyalgia may be treated with low doses of tricyclic antidepressant medications. Amitriptyline (Elavil) and Cyclobenzaprine (Flexeril), which are prescribed as muscle relaxants, may be helpful. They may also help patients who suffer from unrefreshing (non-restorative) sleep. The tricyclic antidepressant amitriptyline (Elavil) can also be used to help patients with this disorder who have depression. When Elavil is used for this reason it is given at higher dosages. Some patients receive temporary help with such things as stretching exercises, deep heat treatments, warm showers and baths, whirlpool baths and hot tubs, heating pads, massages, ice packs, acupuncture, biofeedback and/or aerobic exercise. Therapies: Investigational The antidepressant fluoxetine (Prozac) is currently being studied as a treatment for patients with Fibromyalgia. Prozac does not cause drowsiness like other antidepressants. More research is needed to determine long-term safety and effectiveness of Prozac for this disorder. This disease entry is based upon medical information available through October 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fibromyalgia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Fibromyalgia Association of Central Ohio Riverside Methodist Hospitals North Medical Bldg., Suite 8 3545 Olentangy River Road Columbus, Ohio 43214 (614) 262-2000 Arthritis Foundation 1413 Spring Street, N.W. Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Ontario Fibromyalgia Assoc. 250 Bloor St., East, Suite 901 Toronto, Ontario, M4W 3P2 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 2048. Fibromyalgia: Mary Anne Saathoff BSN, Fibromyalgia Association of Central Ohio (1991). Fibromyalgia &pagetitle 266: Fibromyalgia 03743.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 116: Filariasis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Filariasis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Wuchereriasis Filarial Elephantiasis DISORDER SUBDIVISIONS Bancroftian Filariasis Filariasis Malayi Filariasis not caused by Wuchereria Bancrofti or Brugia Malayi Tropical Eosinphilia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Filariasis usually refers to disease caused by either the Wuchereria Bancrofti or Brugia Malayi worms and marked by features of lymphadenopathy including inflammation, swelling, and, if untreated and repeatedly reinfected over a long period of time, elephantiasis, especially in the legs and genital regions. Filariasis is common in the Asian and Polynesian tropics. In North America, filariasis is very rare, occurring only in people who have travelled or lived in these areas. The infection is transmitted by several tropical mosquito species, which ingest the larval parasite from one host and subsequently bite and inoculate a new host with it. The larvae, known as microfilariae, make their way to the lymphatics, where they reach their adult stage and begin producing more microfilariae. Disease is primarily a reaction to adult worms, not to the microfilariae. Some cases of filarial infection are asymptomatic. The prognosis is good. Symptoms Symptoms and signs of Filariasis vary with the severity of the infection. The adult worms, lodged in the lymphatics, together with the surrounding inflammation and fibrosis, cause progressive obstruction of the lymph vessels. Symptoms, when present, may include fatigue, a sense of heaviness, general malaise, chills, vertigo, headache, photophobia, vomiting, and limb pain. Other clinical manifestations include swelling and redness of the limbs, inflammation of lymph nodes and vessels, testicles, spermatic cord, and epididymus, varicose lymph vessels, edema, hypertrophy of skin and subcutaneous tissues, the presence of chyle in the urine, and fever. As the obstruction of the lymphatics progresses, edema becomes chronic, and there may be marked enlargement of the scrotum, vulva, legs, and breasts, i.e., elephantiasis. Abscesses or calcifications surrounding adult worms which have died and lost their immunologic "disguise" may develop, particularly in the pelvis, kidneys, or inguinal lymph nodes. Microfilariae can be detected in the tissues, including the skin, which is useful for diagnostic purposes. They also usually are found in the blood. There is moderate eosinophilia. Tropical eosinophilia is a variant of filariasis in which there are hypereosinophilia, high antifilarial antibody titres, and microfilariae in the tissues but not in the blood. Clinical manifestations of this form of filariasis comprise enlargement of the lymph nodes and spleen, and sometimes, chest infiltrates, cough, and bronchospasm. Causes The pathogenic worms which cause Filariasis are Wuchereria Bancrofti in Polynesia, and Brugia Malayi in Asia, including east of the Indian subcontinent. As described previously, mosquitos vector the disease. Symptoms result primarily from inflammatory reactions to the adult worms; possibly, hypersensitive reactions to the microfilaria also develop. Related Disorders The term "filariasis" in this article has been used in its narrower sense. In its broad sense, filariasis refers to a group of parasitic diseases caused by various species of filarial nematodes. Examples of these diseases include acanthocheilonemiasis, mumu, loiasis (Calabar swellings), dirofilariasis (human infection by dog heartworm), and onchocerciasis (river blindness). All of these except dirofilariasis can be acquired only in the tropics, where they are common, but are extremely rare in temperate climates. Therapies: Standard In the tropics, mosquito control is an important part of treatment and prophylaxis. Generally, Filariasis is self limited unless reinfections occur. Thus some cases, especially those imported to temperate regions, where there is no danger of spreading the disease due to the absence of suitable vector mosquitos, may be left untreated. In severe cases, however, treatment may be directed at the elimination of the microfilariae and adult worms. Diethylcarbamazine, the most effective drug in use, removes microfilariae and kills or impairs the reproductive capacity of the adult worms. A somewhat less effective drug, levamisole, has also been investigated. The elimination of adult worms must be undertaken with care because they can provoke dangerous allergic reactions and cause abscess formation when they are dead. These side effects can be controlled by antihistamines or corticosteroids. Adult worms, their remains, or calcifications developing around them, may be removed surgically if necessary. Surgery alleviates elephantiasis of certain structures such as the scrotum. Treatment of elephantiasis of the legs usually consists of elevation and support from elastic stockings. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Filariasis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Filariasis Association Department of Helminthology London School of Hygiene and Tropical Medicine Heppel Street London WC1 E 7HT England Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infectious Disease 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References Brown, KR, Phillips, SM. Tropical diseases of importance to the traveler. ADV INTERN MED (1984) 29:59-84. Campbell, WC. Efficacy of the vermectins against filarial parasites: a short review. VET RES COMMUN (1982 May) 5(3):251-62. Goodwin, LG. Recent advances in research on filariasis. Chemotherapy. TRANS R SOC TROP MED HYG (1984) 78 suppl:1-8. Hawking, F. Diethylcarbamazine and new compounds for the treatment of filariasis. ADV PHARMACOL CHEMOTHER (1979) 16:129-94. Miller, M.J. Use of levamisole in parasitic infections. DRUGS (1980 Aug) 20(2):122-30. Spry, CJ, Kumaraswami, V. Tropical eosinophilia. SEMIN HEMATOL (1982 Apr) 19(2):107-15. Filariasis pagetitle 116: Filariasis 03744.TXT Copyright (C) 1993 National Organization for Rare Disorders, Inc. 945: Fitz-Hugh-Curtis Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fitz-Hugh-Curtis Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Perihepatitis Syndrome Gonococcal Perihepatitis Information on the following diseases can be found in the Related Disorders section of this report: Cholangitis, Primary Sclerosing Cholecystitis Pancreatitis Hepatitis General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fitz-Hugh-Curtis Syndrome is a rare disorder that develops in females as a result of complications of pelvic inflammatory disease. The disorder is characterized by string-like scar tissue (adhesions) that attaches between the liver and other sites in the abdominal lining (peritoneum). Symptoms can mimic those of hepatitis. Severe pain in the upper right area of the abdomen is usually present. Infection occurs, caused by the Chlamydia trachomatis bacteria. Symptoms Fitz-Hugh-Curtis Syndrome is characterized by the onset of sudden, severe pain in the upper right area of the abdomen which can often be confused with the development of hepatitis. Sexually active women who are infected with the Chlamydia trachomatis bacteria are the persons who develop the disorder. Scar tissue develops between the abdominal wall and the liver which causes severe right-side pain. Other symptoms include fever, liver tenderness and dysfunction, and blood irregularities. Causes Fitz-Hugh-Curtis Syndrome is caused by infection with the bacteria Chlamydia trachomatis. It occurs in sexually active women and is usually associated with pelvic inflammatory disease. Other causes for severe right-sided pain must be ruled out in order to diagnose this disease. Chlamydia is a common sexually transmitted infectious disease. Affected Population Fitz-Hugh-Curtis Syndrome is a rare disorder that affects females who are infected with the Chlamydia trachomatis bacteria. Women of any age group in any country around the world are at risk of contracting this disorder. Related Disorders Symptoms of the following disorders can be similar to those of Fitz-Hugh-Curtis Syndrome. Comparisons may be useful for a differential diagnosis: Primary Sclerosing Cholangitis is a rare collagen disorder involving inflammation and blockage of the bile duct, liver ducts and gallbladder. Episodes of pain and discomfort in the right upper section of the abdomen may gradually become prolonged. (For more information on this disorder, choose "Primary Sclerosing Cholangitis" as your search term in the Rare Disease Database). Cholecystitis is the inflammation of the gallbladder. It is usually caused by gallstones. It is characterized by abdominal pain which can be chronic or acute. Chills, nausea, and vomiting may also occur. Pain may be felt in the chest, shoulder and back usually on the right side of the body. (For more information on this disorder, choose "Cholecystitis" as your search term in the Rare Disease Database). Pancreatitis is an inflammation of the pancreas associated with a buildup of digestive enzymes. The pancreas produces these enzymes to help break down carbohydrates and proteins during digestion. This disorder is characterized by nausea and vomiting, fever, chills, and severe abdominal right-sided pain. Hepatitis is usually a viral infection of the liver. There are several types of Hepatitis which generally cause fever, cough, nausea, and jaundice (yellowing of the skin). Swelling of the spleen and liver may also appear. Usually the area surrounding the liver is tender. The disorder can be spread through fecal-oral contact, especially in geographic areas where personal hygiene is poor (for more information on this disorder, choose "Hepatitis" as your search term in the Rare Disease Database). Therapies: Standard Fitz-Hugh-Curtis Syndrome is diagnosed through the use of ultrasound or a scope placed into the abdominal cavity through a small incision (laparoscopy) The Chlamydia trachomatis bacteria is identified through laboratory tests. The results of testing can confirm whether or not the woman has Fitz-Hugh-Curtis Syndrome or another disorder. Tetracyclines, ofloxacin, and other antibiotic medications are prescribed to treat the disorder. Surgery to remove the string-like scar tissue may also be necessary. Therapies: Investigational An investigational therapy for the infection associated with of Fitz-Hugh-Curtis Syndrome is the drug azithromycin. This antibiotic treatment is given in a single dose. More research is necessary to determine the long term safety and effectiveness of this drug for the treatment of Chlamydial trachomatis infections. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fitz-Hugh-Curtis Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (203) 746-6518 NIH/National Institute of Allergy and Infectious Disease (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Rd., NE Atlanta, GA 30333 (404) 639-3534 American Social Health Association 100 Capitola Dr., Suite 200 Research Triangle Park, NC 27713 (919) 361-8400 National Sexually Transmitted Diseases hotline (800) 227-8922 Council on Sex Information and Education 444 Lincoln Blvd., Suite 107 Venice, CA 90291 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 834, 1708. LAPAROSCOPIC TREATMENT OF PAINFUL PERIHEPATIC ADHESIONS IN FITZ-HUGH- CURTIS SYNDROME., S. Owens, et al.; Obstet Gynecol, September, 1991, (issue 78 (3 pt 2)). Pp. 542-543. AN ATYPICAL PRESENTATION OF THE FITZ-HUGH-CURTIS SYNDROME. M. McCormick, et al.; J Emerg Med, January-February, 1990, (issue 8 (1)). Pp. 55-58. Fitz-Hugh-Curtis Syndrome pagetitle 945: Fitz-Hugh-Curtis Syndrome t!v!v! 03745.TXT pagetitle 934: Floating-Harbor Syndrome Copyright (C) 1993 National Organization for Rare Disorders, Inc. 934: Floating-Harbor Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Floating-Harbor Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms FHS Information on the following diseases can be found in the Related Disorders section of this report: Dubowitz Syndrome Russell-Silver Syndrome Three M Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Floating-Harbor Syndrome is a very rare disorder characterized by short stature, delayed language skills, and a triangular shaped face. A broad nose, deep-set eyes and a wide mouth with thin lips give the affected patient a distinct appearance. FHS was named for the first two patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The cause of this disorder is not known. Symptoms Floating-Harbor Syndrome is a very rare disorder in which the affected patient has short stature with delayed bone growth, a delay in expressive language, and distinct facial features. Growth may be affected prenatally but typically becomes apparent during the first year of life. All patients with FHS have a delay in bone age which means that the rate of growth and development of the bones is slower than normal. The limbs and trunk are in proportion while the head may appear relatively large. Delayed expressive language is found in all patients with FHS. Some children may be delayed in their learning ability as well. Most children appear to be slightly behind in school but there have been no recorded cases of moderate or severe retardation. Distinctive facial features are another symptom of Floating-Harbor Syndrome. These features typically become apparent at the age of three or four years. The nose and nasal bridge are broad, and the mouth is wide with thin lips. The eyes are deeply set and the face appears small with a triangular shape. Eyelashes may be longer than normal, and there may be dental abnormalities. Abnormal bending (clinodactyly) of the fifth finger, clubbing of the fingers and/or excessive body hair (hirsutism) have been found in some patients with Floating-Harbor Syndrome. An intestinal malabsorption disorder caused by intolerance to gluten (Celiac Sprue) has been found in several patients with this disorder. (For more information on this disorder choose "Celiac Sprue" as your search term in the Rare Disease Database). An additional thumb, constipation and/or a narrowing of the opening of the right ventricle into the pulmonary artery (pulmonary stenosis) have also been found in several affected patients. Causes The exact cause of Floating-Harbor Syndrome is not known. There have been no reported cases of reccurence within a family. It is thought that FHS may be a new dominant mutation. A mutation is an unusual change in genetic material that has occurred for no apparent reason. The alteration changes the original expression of the gene. When a mutation occurs it can be transmitted to future generations. Affected Population Floating-Harbor Syndrome is a very rare disorder that affects males and females in equal numbers. There have been approximately twenty cases of this disorder reported in the medical literature. It is thought that the incidence of this disorder may actually be higher because many cases go unrecognized. Related Disorders Symptoms of the following disorders can be similar to those of Floating-Harbor Syndrome. Comparisons may be useful for a differential diagnosis: Dubowitz Syndrome is a rare disorder thought to be inherited as an autosomal recessive genetic trait. Symptoms of this disorder are apparent at birth. Short stature, dental abnormalities, low birth weight, and/or unusual facial features are characteristic of Dubowitz Syndrome. (For more information on this disorder, choose "Dubowitz Syndrome" as your search term in the Rare Disease Database). Russell-Silver Syndrome is a rare disorder commonly thought of as a type of dwarfism. People with this disorder are short with a small triangular-shaped face, and light brown spots on the skin. Developmental abnormalities, as well as abnormal curvature of the fifth finger, may also be present. The exact cause of Russell-Silver Syndrome is not known although some medical researchers believe it may be inherited as either an X-linked or dominant genetic trait with incomplete penetrance. (For more information on this disorder, choose "Russell-Silver Syndrome" as your search term in the Rare Disease Database). Three M Syndrome is a rare disorder characterized by low birth weight, short stature, narrow face, abnormal bending of the fingers (clinodactyly), and thin-slender long bones. The head appears to be large and the face has a triangular shape. A prominent mouth as well as a short neck are also features of this disorder. Three M Syndrome is inherited as an autosomal recessive genetic trait. Therapies: Standard Patients with Floating-Harbor Syndrome will benefit from an educational environment that provides appropriate programs to assist their needs. Speech therapy as well as teachers trained to work with learning disabilities will be of benefit. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Floating Harbor Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Floating-Harbor Syndrome Support Group 27 Hatfield Road Dagenham Essex, RM9 6JR The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 (800) 24-DWARF Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1BS England For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 398. FLOATING-HARBOR SYNDROME: M.A. Patton, et al.; J Med Genet (1991, issue 28). Pp. 201-204. FLOATING-HARBOR SYNDROME AND CELIAC DISEASE: A.E. Chudley, et al.; Am J Med Genet (March 15, 1991, issue 38(4)). Pp. 562-4. Floating-Harbor Syndrome 03746.TXT `)Q)Copyright (C) 1992 National Organization for Rare Disorders, Inc. 926: Focal Dermal Hypoplasia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Focal Dermal Hypoplasia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Combined Mesoectodermal Dysplasia DHOF Ectodermal and Mesodermal Dysplasia, Congenital Ectodermal and Mesodermal Dysplasia with Osseous Involvement FDH FODH Focal Dermal Dysplasia Syndrome Focal Dermato-Phalangeal Dysplasia Goltz-Gorlin Syndrome Goltz Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectodermal Dysplasias Oculocerebrocutaneous Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Focal Dermal Hypoplasia is a rare form of ectodermal dysplasia that is thought to be inherited as an X-linked dominant genetic trait with lethality in males. It is found primarily in females. This disorder is characterized by skin abnormalities in which there are underdeveloped areas of skin that form streaks or lines and tumor-like herniations of fat on the skin. Skeletal, facial, dental, ocular and soft tissue defects are also present. Symptoms Focal Dermal Hypoplasia is a rare skin disorder that is one of the ectodermal dysplasias. It is characterized by skin lesions that look streaked, underdeveloped or "punched-out". Deposits of fat (papillomas) are typically found on the gums, tongue, lips, vulvae and anus. There may be inflammation, itching, reddening, blistering and crusting of the skin. Skin may be absent, discolored or lack pigmentation (color) in some areas. Overgrowth of tissue may be found on the palms of the hands and soles of the feet. Excessive sweating (hyperhidrosis) or absence of sweating (hypohydrosis) is often present on the palms of the hands and soles of the feet. The hair may be sparse, brittle and/or missing. Eye abnormalities that have been found in some patients with Focal Dermal Hypoplasia are: drooping eyelids (ptosis); clouding of the cornea; a cleft along the edge of the eyeball (coloboma); involuntary rapid movement of the eye (nystagmus); absence of an eye (anophthalmia); wide spacing between the eyes; more than one color within the iris (heterochromia); dislocation of the lens; crossed eyes (strabismus); and/or exposure of the lining of the eyelid (ectropion). Patients with Focal Dermal Hypoplasia may also have a variety of skeletal abnormalities. Curvature of the spine, fused vertebrae, underdeveloped or missing fingers or toes, extra fingers or toes (polydactyly), fingers or toes that have grown together (syndactyly), fingers that bend to the side (clinodactyly), permanently bent fingers (camptodactyly), and/or fusion of bones of the fingers and toes may be present. Other malformations of the skeleton may include a small skull, an underdeveloped jaw, a forward projection of the jaw and/or uneven development of the face, limbs or trunk. Failure of the teeth to develop properly often occurs in patients with Focal Dermal Hypoplasia. The teeth may be missing, underdeveloped, unusually small or improperly spaced. Missing enamel may aid in the development of cavities. Abnormalities of the gums, tongue, lips, ears, heart and kidneys may also be present. Mental retardation can be found in some patients with Focal Dermal Hypoplasia. Causes Focal Dermal Hypoplasia is thought to be inherited as an X-linked dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe form of the condition. Sometimes affected males die before birth so that only females patients survive. Affected Population It is thought that Focal Dermal Hypoplasia when expressed fully is lethal in males. As a result, there have been only 11 males to 150 females observed in the medical literature. Focal Dermal Hypoplasia occurs in many areas of the world. Related Disorders Symptoms of the following disorders can be similar to those of Focal Dermal Hypoplasia. Comparisons may be useful for a differential diagnosis: Ectodermal Dysplasias are a group of hereditary, nonprogressive skin diseases in which the affected tissue derives primarily from the ectodermal germ layer. The skin, it's derivatives, and some other organs are involved. Symptoms may include eczema, poorly functioning sweat glands, sparse or absent hair, abnormal hair, disfigured nails, and difficulty with the nasal passages and ear canals. (For more information on these disorders, choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome is a genetic disorder which may be characterized by an absence of fingers and/or toes (ectrodactyly); an absence of tear ducts; cleft lip and/or palate; and sparse scalp hair, lashes and eyebrows. This disorder may be inherited through an autosomal dominant genetic trait. (For more information on this disorder, choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Oculocerebrocutaneous Syndrome is a rare congenital disorder that may occur for no apparent reason (sporadically) or may be inherited as an autosomal dominant genetic trait. Affected individuals may have cysts in the orbit of the eye, malformations of the brain including cysts in the cavities, small brown or flesh colored tags of skin in the orbit of the eyes and front of the ears, skin lesions on the head and trunk as well as seizures. (For more information on this disorder, choose "Oculocerebrocutaneous Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Treatment for patients with Focal Dermal Hypoplasia is directed at the symptoms. Dermatological creams may relieve skin discomfort. Dentures, hearing aids, etc. may be required. Heat and overexercise should be avoided. Limb deformities may be treated with surgery. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational The National Institutes of Dental Research in Bethesda, MD, is conducting a research project to evaluate dental treatment of individuals who have Ectodermal Dysplasia. Treatment will consist of either conventional removable dentures or fixed dentures supported by dental implants. The project is designed to evaluate the effect of dental implants on such things as satisfaction with treatment, the ability to chew food and maintenance of the bone that supports the denture. To be eligible to participate in this study, individuals must have Ectodermal Dysplasia, be missing several teeth, and be between the ages of twelve and seventy. A complete oral and dental examination will be provided to determine if an individual qualifies for the evaluations for a period of five years. Financial aid is expected to be available to help defray travel and lodging expenses for trips to Bethesda, MD. For additional information, physicians can contact: Albert D. Guckes, M.D. Dental Clinic, NIDR Bldg. 10, Rm. 6S-255 National Institutes of Health Bethesda, MD 20892 (301) 496-4371 (301) 496-2944 Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through August 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Focal Dermal Hypoplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main Street Mascoutah, IL 62258 (618) 566-2020 National Institute of Dental Research (NIDR) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 468-3235 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914)-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1592-93. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. P. 472. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 516-17. VARIABLE EXPRESSION IN FOCAL DERMAL HYPOPLASIA. AN EXAMPLE OF DIFFERENT X-CHROMOSOME INACTIVATION: M.A. Wechsler, et al.; Am J Dis Child (March, 1988, issue 142(3)). Pp. 297-300. FOCAL DERMAL HYPOPLASIA SYNDROME. CASE REPORT AND LITERATURE REVIEW: E.H. Hall et al.; J Am Acad Dermatol (September, 1983, issue 9(3)). Pp. 443-51. CUTANEOUS DEFECTS OF FOCAL DERMAL HYPOPLASIA: AN ECTOMESODERMAL DYSPLASIA SYNDROME: J.B. Howell et al.; J Cutan Pathol (October, 1989, issue 16(5)). Pp. 237-58. Focal Dermal Hypoplasia enlak* n*pagetitle 926: Focal Dermal Hypoplasia 03747.TXT %~%Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 396: Forbes Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Forbes Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Amylo-1,6-Glucosidase Deficiency Cori Disease Debrancher Deficiency Glycogen Storage Disease III Glycogenosis Type III Limit Dextrinosis Information on the following diseases can be found in the Related Disorders section of this report: Von Gierke Disease Andersen Disease Hers Disease Glycogen Storage Disease VIII General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Forbes Disease is a glycogen storage disorder inherited through autosomal recessive genes. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and heart. The heart may be involved in some cases. Symptoms Symptoms of Forbes Disease during the first 4 to 6 years of life may be indistinguishable from Von Gierke Disease. The amounts of glycogen in the liver and muscles is abnormally high. The liver is enlarged and the abdomen protrudes. The muscles tend to be flaccid. A child with Forbes Disease has a short stature, low blood sugar (hypoglycemia) that does not respond to the hormone glucagon, and an elevated level of fatty substances in the blood, known as hyperlipemia. Patients with Forbes Disease may also have difficulty fighting infections, and may experience unusually frequent nosebleeds. Some individuals may have virtually no other symptoms of Forbes Disease other than a protruding abdomen and an enlarged liver. These patients tend to lose these few symptoms during adolescence when their liver decreases progressively in size. Children with Forbes Disease often grow slowly during childhood and puberty may be delayed, but their adult height is usually normal. Causes Forbes Disease is a disorder inherited through autosomal recessive genes. The disorder is caused by lack of a debrancher enzyme (amylo-1,6-glucosidase) which is involved in the formation of the stored form of carbohydrates (glycogen). Glycogen is stored in the liver and muscles for future energy needs when it is converted into sugar (glucose). Glucose is used as a readily available source of energy. Without the debrancher enzyme, glycogen can only be broken down partially and the structure that is left, resembling a molecule called a "limit dextrin", may accumulate in liver and muscle tissues. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population All Glycogen Storage Diseases together affect less than 1 in 40,000 persons in the United States. Forbes Disease usually begins during childhood. It affects males as often as females. Patients with this disorder reported in Israel were generally of North African heritage. Related Disorders Glycogen Storage Diseases involve inborn errors of metabolism in which the balance between stored energy (glycogen), and available energy (sugar or glucose), is disturbed. Too much glycogen tends to be stored in the liver and muscles, and too little sugar is available in the blood. The following diseases are similar to Forbes Disease. These can be compared with Forbes Disease for a differential diagnosis: Von Gierke Disease is a more severe form of glycogen storage disease. It is a hereditary metabolic disorder caused by an inborn lack of either the enzyme glucose-6-phosphatase or the enzyme glucose-6-phosphate translocase. These enzymes are needed to convert the main carbohydrate storage material (glycogen) into sugar (glucose) which the body uses for its energy needs. A deficiency of these enzymes causes abnormal deposits of glycogen in the liver and kidney cells. Andersen Disease is a glycogen storage disease inherited through recessive genes. Symptoms of this disorder are caused by a lack of a brancher enzyme amylo transglucosidase. The lack of this enzyme causes an abnormality in the structure of the main carbohydrate storage material (glycogen). Andersen Disease is characterized by scarring of the liver (cirrhosis) which may lead to liver failure. Hers Disease is a mild genetic form of glycogen storage disease. The disorder is caused by a deficiency of the enzyme liver phosphorylase. Hers Disease is characterized by enlargement of the liver (hepatomegaly), moderately low blood sugar (hypoglycemia), elevated levels of acetone and other ketone bodies in the blood (ketosis), and moderate growth retardation. Symptoms are not always evident during childhood. Children are able to lead normal lives. In other cases, severe symptoms may be present. Glycogen Storage Disease VIII is a sex-linked genetic disorder caused by a deficiency of the enzyme liver phosphorylase kinase. The disorder is characterized by slightly low blood sugar (hypoglycemia). Excess amounts of glycogen (the stored form of energy that comes from carbohydrates) are deposited in the liver, causing enlargement of the liver (hepatomegaly). For more information on the above disorders, choose "Von Gierke," "Andersen," "Hers," and "Glycogen Storage VIII" as your search terms in the Rare Disease Database. Therapies: Standard Diagnosis of Forbes Disease may be confirmed by tests for the presence of glycogen and the debrancher enzyme in muscle and liver biopsies. White blood cells and connective tissue cells called fibroblasts can also be useful for similar diagnostic tests. Treatment of Forbes Disease is aimed at prevention of low blood sugar (hypoglycemia). Frequent small servings of carbohydrates and a high protein diet are advised during the day. At night continuous tube feeding of food solutions such as Vivonex or polycose (glucose) may be administered to promote normal childhood growth. Genetic counseling is helpful for families of children with Forbes Disease and other Glycogen Storage Diseases. People with this disorder can expect to live a normal life span. However, muscle disorders may develop with age. Therapies: Investigational Dr. Y.T. Chen at Duke University Medical Center, at the request of the Glycogen Storage Disease Association, is collecting DNA from patients with Glycogen Storage Disease Type I to form a DNA bank for GSDI. Interested patients may contact the Glycogen Storage Diseases Association for further information. The address and phone number of the organization are listed in the Resources section of this report. This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Forbes Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Glycogen Storage Diseases Box 896 Durant, IA 52747 (319) 785-6038 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MYOPATHY AND GROWTH FAILURE IN DEBRANCHER ENZYME DEFICIENCY: IMPROVEMENT WITH HIGH-PROTEIN NOCTURNAL ENTERAL THERAPY: A.E. Slonim, et al.; Journal of Pediatrics (December 1984: issue 105,6). Pp. 906-911. NEUROMUSCULAR INVOLVEMENT IN GLYCOGEN STORAGE DISEASE TYPE III: S.W. Moses, et al.; Acta Paediatrica Scandinavica (March 1986: issue 75,2). Pp. 289-296. Forbes Disease}& &pagetitle 396: Forbes Disease 03748.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 153: Forbes-Albright Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Forbes-Albright Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Nonpuerperal Amenorrhea-Galactorrhea Nonpuerperal Galactorrhea Galactorrhea-Amenorrhea Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Forbes-Albright Syndrome belongs to a group of disorders characterized by abnormal lactation (milk production) and, in women, an absence of menstrual periods. Hormone secreting tumors in the pituitary region cause almost all cases of the syndrome. Forbes-Albright Syndrome is not correlated with pregnancy. It responds to pharmacological treatment for variable periods of time. Symptoms Onset of Forbes-Albright Syndrome usually occurs during the patient's twenties or thirties. In women, the symptoms consist of galactorrhea (abnormal secretion of a milky substance from the nipples) and an absence of menstrual periods (amenorrhea). The breasts and nipples are of normal size and appearance, but the secondary sexual characteristics, such as hair distribution, may change somewhat. Some patients may become obese, and the skin may become unusually oily. In men, the breasts may enlarge and begin to secrete milk. Laboratory tests reveal elevated levels of prolactin, the hormone responsible for lactation after childbirth. In addition, they indicate low levels of gonadotropins, hormones such as Follicle Stimulating Hormone (FSH), that regulate the monthly ovulatory cycle. Causes Forbes-Albright Syndrome is caused by hormone secreting tumors in the region of the pituitary gland, and sometimes the hypothalamus. The hypothalamus, a small region of brain, and the nearby pituitary gland produce a number of important hormones, including many involved in reproduction and milk production. Other causes of galactorrhea-amenorrhea syndromes include hypothyroidism, chronic use of dopamine antagonistic drugs (e.g., thorazine), and the discontinuation of oral contraceptive regimens. Related Disorders Galactorrhea-amenorrhea syndromes include Chiari-Frommel Syndrome which is associated with pregnancy and Ahumada-del Castillo Syndrome which is not associated with pregnancy or large tumors. (For more information on these disorders, please choose "Chiari-Frommel" and "Ahumada" as your search terms in the Rare Disease Database.) Therapies: Standard Surgical removal of tumors usually resolves all symptoms of Forbes-Albright Syndrome. Smaller or inoperable tumors often respond to irradiation or pharmacological treatment. Drugs such as bromocriptine or lergotrile mesilate lower prolactin levels, stopping the abnormal milk secretion, and often restore menstrual functions. Therapies: Investigational This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Forbes-Albright Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1029. Forbes-Albright SyndromeG pagetitle 153: Forbes-Albright Syndrome 03749.TXT x Copyright (C) 1991 National Organization for Rare Disorders, Inc. 826: Forestier's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Forestier's Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Diffuse Idiopathic Skeletal Hyperostosis DISH Vertebral Ankylosing Hyperostosis Spinal Diffuse Idiopathic Skeletal Hyperostosis Spinal DISH Information on the following disorders can be found in the Related Disorders section of this report: Osteoarthritis Spondylosis Ankylosing Spondylitis Rheumatoid Arthritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Forestier's Disease is one of the many forms of Osteoarthritis. Major symptoms may include areas of bony overgrowth or bone spurs which usually develop along the spine without breakdown of spinal discs. Symptoms In Forestier's Disease, areas of bony overgrowth or bone "spurs" develop, most often on a segment of the spine anywhere from below the neck to the lower back (thoracic and lumbar areas of the spine). Other sites may include areas where tendons join bones (tendon osseous junctions) such as at the heel of the foot. Occasionally Forestier's Disease affects the elbow. Some patients may feel pain in the affected area(s). Occasionally, bony overgrowths may place pressure on nearby nerves (nerve compression or entrapment) causing irritation. Uncommonly, Forestier's Disease affects the cervical (neck) area of the spine (cervical DISH). This may cause the patient to experience difficulty in swallowing (dysphagia) or speaking (dysphonia). This type of the disorder is often seen in people who have Diabetes Mellitus. (For more information choose "Diabetes Mellitus" as your search term in the Rare Disease Database). Causes The exact cause of Forestier's Disease is unknown. Changes in cartilage may cause the bony overgrowths to occur. This may be due to aging, trauma, or "wear and tear" such as from sports. Disorders which involve disturbances in cartilage metabolism such as diabetes mellitus or acromegaly, or certain inherited connective tissue disorders may also cause Forestier's Disease. (For more information choose "diabetes mellitus," "acromegaly," or "connective tissue" as your search terms in the Rare Disease Database). Affected Population Forestier's Disease is a common subtype of osteoarthritis. It generally affects men and women over the age of 50. Related Disorders Symptoms of the following disorders can be similar to those of Forestier's Disease. Comparisons may be useful for a differential diagnosis: Osteoarthritis is a very common degenerative joint disease characterized by loss of cartilage, deformities of bones and joints, and thickening of the surrounding ligaments and membranes at the joint margins with areas of bony outgrowths. Osteoarthritis develops when cartilage repair does not keep pace with cartilage degeneration. It may occur as a result of trauma to the bone, aging, obesity, or other underlying diseases which cause damage to the joint or its cartilage such as congenital dislocation of the hip or Rheumatoid Arthritis. Osteoarthritis is suspected to be an autoimmune disease. In these types of disorders the body's natural defenses against foreign substances (e.g. antibodies or lymphocytes) attack healthy tissue for unknown reasons. Spondylosis is osteoarthritis of the spine. It is characterized by a breakdown of the spinal discs in between the vertebrae; this does not occur in Forestier's Disease. (For more information on disorders involving osteoarthritis, choose "osteoarthritis" as your search term in the Rare Disease Database). Ankylosing Spondylitis is a chronic progressive form of arthritis primarily involving the spine and paraspinal structures. It is distinguished by inflammation and eventual immobility (ankylosis) of a number of spinal joints. Onset is usually gradual with episodes of low back pain, especially in the region of the tailbone and hips (sacroiliac), and the lower (lumbar) spine. Morning back stiffness often occurs. Symptoms commonly become progressively worse, spreading from the low back into the mid-back and occasionally the neck. (For more information on this disorder, choose "Ankylosing Spondylitis" as your search term in the Rare Disease Database). Rheumatoid Arthritis is also suspected of being an autoimmune disease. It is characterized by lack of appetite (anorexia), tiredness, painful and deformed joints, early morning stiffness chiefly in the hands, knees, feet, jaw, and spine. Once affected, a patient's joints remain painful or uncomfortable for weeks, months, or even years. (For more information choose "Rheumatoid Arthritis" as your search term in the Rare Disease Database). Therapies: Standard Testing for Forestier's Disease may include imaging techniques such as X-rays, computed tomographic (CT) scans, or the use of a lighted instrument with a flexible tube (endoscopy). Treatment may include anti-inflammatory non-steroid drugs. Sometimes surgery to correct deformities may be prescribed. Other treatment is symptomatic and supportive. Therapies: Investigational Scientists are pursuing substantial research on all forms of arthritis and other autoimmune diseases. It is hoped that better understanding of the immune system will lead to improved treatments and prevention of degenerative processes that cause pain and malformations that characterize arthritis. This disease entry is based upon medical information available through January 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Forestier's Disease, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Arthritis Foundation 1314 Spring Street Atlanta, GA 30309 (404) 872-7100 Ankylosing Spondylitis Association 511 North La Cienega, Suite 216 Los Angeles, CA 90048 (213) 652-0609 (800) 777-8189 Coaltion of Heritable Disorders of Connective Tissue c/o National Marfan Foundation 382 Main St. Port Washington, NY 11050 (516) 944-5412 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2039-2041. DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS CAUSING ACUTE THORACIC MYELOPATHY: A CASE REPORT AND DISCUSSION. A. Reisner, et al.; Neurosurgery (Mar 1990; issue 26 (3)). Pp. 507-511. DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS (DISH) OF THE SPINE: A CAUSE OF BACK PAIN? A CONTROLLED STUDY. P. Schlapbach, et al.; Br J Rheumatol (Aug 1989; issue 28 (4)). Pp. 299-303. DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS WITH DYSPHAGIA (A REVIEW). E. Eviatar and M. Harell; J Laryngol Otol (Jun 1987; issue 101 (6)). Pp. 627-632. DYSPHAGIA DUE TO DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS. W. J. Shergy, et al.; Am Fam Physician (Apr 1989; issue 39 (4)). Pp. 149-152. DYSPHONIA CAUSED BY FORESTIER'S DISEASE. I. Gay and J. Elidan; Ann Otol Rhinol Laryngol (May-Jun 1988; issue 97 (3 Pt 1)). Pp. 275-276. RADIOGRAPHIC, CLINICAL, AND HISTOPATHOLOGIC EVALUATION WITH SURGICAL TREATMENT OF FORESTIER'S DISEASE. J. G. Barsamian, et al.; Oral Surg Oral Med Oral Pathol (Feb 1985; issue 59 (2)). Pp. 136-141. Forestier's Disease !pagetitle 826: Forestier's Disease 03750.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 678: Formaldehyde Poisoning _________________________ ** IMPORTANT ** It is possible that the main title of the article (Formaldehyde Poisoning) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Formaldehyde Exposure Formalin Toxicity Formalin Intoxication Formaldehyde Toxicity Information on the following diseases can be found in the Related Disorders section of this report: Heavy Metal Poisoning Berylliosis Arsenic Poisoning General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Formaldehyde Poisoning is a disorder brought about by breathing the fumes of formaldehyde. This can occur while working directly with formaldehyde, or using equipment cleaned with formaldehyde. Major symptoms may include eye irritation, nose and throat irritation, headaches and skin rashes. Symptoms Symptoms of Formaldehyde Poisoning are varied. There may be eye irritation, breathing problems, skin irritations and headaches. If formaldehyde is swallowed it causes burns to the esophagus and stomach. Poisoning of patients using dialysis machines cleaned with formaldehyde can cause loss of red blood cells (acute hemolysis). In extreme cases Formaldehyde Poisoning may include low blood pressure (hypotension), abnormalities of heart rhythm, irregular breathing, restlessness, unconsciousness and coma. Causes Formaldehyde Poisoning may be caused in a variety of ways. Some people are affected when they work with products made with formaldehyde such as chip board and foam insulation. Persons may be poisoned by accidentally ingesting or swallowing formaldehyde. Breathing the vapors given off by the chemical itself in plants that manufacture it, or by working in areas where formaldehyde is used to produce other products can also cause dangerous physical reactions to the chemical. Poisoning may also occur when the chemical is being administered directly to a patient as formalin soaked packs for cysts. A form of formaldehyde (Formalin) is sometimes used as a cleaning agent for dialysis machines and other hospital equipment, and it must be carefully and completely removed before the equipment can be used on patients in order to avoid Formaldehyde Poisoning. Affected Population Formaldehyde Poisoning affects males and females in equal numbers. People exposed in the workplace are most likely to be affected if they are not protected by appropriate air filtering equipment. Related Disorders Symptoms of the following disorders can be similar to those of Formaldehyde Poisoning. Comparisons may be useful for a differential diagnosis: Heavy Metal Poisoning is caused by an overexposure to several types of metals. This may occur from industrial exposure, from air or water pollution, or from foods, medicines or improperly coated food containers. Symptoms of metal poisoning vary according to which type of metal overexposure is involved. (For more information on this disorder, choose "Heavy Metal" as your search term in the Rare Disease Database). Berylliosis is a metal poisoning or allergic disorder caused by exposure to beryllium dust or fumes. It primarily affects the lungs and coughing can become violent and exhausting. Breathing becomes difficult and blood may appear in sputum. The skin may be affected by the appearance of reddened, raised patches. There may be discolored spots on the face, neck, arms, and hands. Lymph nodes near affected skin may become enlarged. (For more information on this disorder, choose "Berylliosis" as your search term in the Rare Disease Database). Arsenic Poisoning can occur during the use and manufacture of pesticides. The gas from arsenic also has some industrial uses and can also cause airborne poisoning. Overexposure may cause headache, drowsiness, confusion, delirium, seizures and sometimes death. In cases of chronic arsenic poisoning, weakness, muscle aches, chills and fever may develop. (For more information on this disorder, choose "Heavy Metal" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Formaldehyde Poisoning primarily consists of removing the chemical from the occupational, domestic or general environment. Workers who are exposed to formaldehyde must protect themselves with appropriate equipment so that they will not be exposed to the fumes. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Formaldehyde Poisoning, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Academy of Environmental Medicine P.O. Box 16106 Denver, CO 80216 (303) 622-9755 NIH/National Institute of Environmental Health Sciences (NIEHS) Public Affairs Office P.O. Box 12233 Research Triangle Park, NC 27709 (919) 541-3345 References FORMALDEHYDE-RELATED HEALTH COMPLAINTS OF RESIDENTS LIVING IN MOBILE AND CONVENTIONAL HOMES. I.M. Ritchie, et al.; Am J Public Health (March, 1987, issue 77 (3)). Pp. 323-328. FORMALIN TOXICITY IN HYDATID LIVER DISEASE. A.R. Aggarwal, et al.; Anaesthesia (July, 1983 issue 38 (7)). Pp. 662-665. ACUTE INTRAVASCULAR HEMOLYSIS DUE TO ACCIDENTAL FORMALIN INTOXICATION DURING HEMODIALYSIS. K.K. Pun, et al.; Clin Nephrol (March, 1984, issue 21 (3)). Pp. 188-190. FORMALDEHYDE-INDUCED CORROSIVE GASTRIC CICATRIZATION: CASE REPORT. R. Kochhar, et al.; Hum Toxicol (December, 1986, issue 5 (6)). Pp. 381-382. Formaldehyde PoisoningE pagetitle 678: Formaldehyde Poisoning 03751.TXT Copyright (C) 1993 National Organization for Rare Disorders, Inc. 941: Fox-Fordyce Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fox-Fordyce Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Apocrine Duct Occlusion Sweat Retention Disease Information on the following diseases can be found in the Related Disorders section of this report: Hidradenitis Suppurativa Miliaria General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fox-Fordyce Disease is a rare disorder that occurs almost solely in women. It is characterized by the development of intense itching usually in the underarm area, the pubic area, and around the nipple of the breast. Perspiration becomes trapped in the sweat gland and in the surrounding area causing intense itching, inflammation, and enlargement of the glands. Skin in the area may become darkened and dry; raised patches develop. Hair follicles in the area dry out resulting in loss or breakage of hair. Symptoms Fox-Fordyce Disease is characterized by dry, darkened patches of skin in the underarm, pubic, and nipple area of the body with raised patches of dried out blisters. Perspiration that becomes trapped in the gland or in the surrounding skin produces intense itching, inflammation, and swelling of the gland. The disease can cause loss or breakage of hair follicles in these areas. The disorder almost solely effects women after puberty and around the time of menstruation. Causes Fox-Fordyce Disease is caused by abnormal functioning of the sweat glands in the underarm area, in the groin, and around the nipple area of the breast. Perspiration becomes trapped in the gland or the surrounding area resulting in inflammation, swelling, and intense itching. The skin of the effected area may have raised patches of dried out blisters, be darkened, and the hair may become broken or fall out. Researchers suspect that the disorder is related to hormonal conditions, but they do not know which hormones are involved or why. Affected Population Fox-Fordyce Disease is a rare disorder that effects females almost exclusively. It usually begins after puberty. The disorder may be more severe at the time of menstruation and tends to disappear during pregnancy. Related Disorders Symptoms of the following disorders can be similar to those of Fox-Fordyce Disease. Comparisons may be useful for a differential diagnosis: Hidradenitis Suppurativa is a chronic inflammatory enlargement of the sweat glands with scarring that is associated with bacterial infection. Nodules form under the skin that are similar to boils. Swelling, pain, and an accumulation of pus enlarge the gland until surgical removal is necessary. (For more information on this disorder, choose "Hidradenitis Suppurativa" as your search term in the Rare Disease Database). Miliaria is a common occurrence and is usually known as "heat rash". The sweat gland is blocked and fluid is trapped in the surrounding area. There are various types. However, they do not involve the hair follicle and do not result in hair loss and inflammatory conditions. Cooling the patient with water or compresses or putting them in a cooler place usually results in the disappearance of the rash. Therapies: Standard In severe cases Fox-Fordyce Disease can be treated with surgical removal of the inflamed gland. Other treatments may involve the use of topical application of a form of vitamin A. However, this treatment is being questioned as the use may cause cancer. The drug clindamycin in an alcohol propylene glycol solution is another form of treatment. Therapies: Investigational The antiandrogen (cyproterone acetate) in combination with or without estrogen therapy is being tested as a treatment for Fox-Fordyce Disease. More study is needed to determine the long term safety and effectiveness of this treatment. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fox-Fordyce Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References CLINICAL DERMATOLOGY, 2nd Ed.; Thomas P. Habif, M.D., Editor: The C.V. Mosby Company, 1990. Pp. 139-140. FOX-FORDYCE DISEASE: SUCCESSFUL TREATMENT WITH TOPICAL CLINDAMYCIN IN ALCOHOLIC PROPYLENE GLYCOL SOLUTION., R. Feldmann, et al.; Dermatology, 1992, (issue 184 (4)). Pp. 310-313. THE THERAPEUTIC USES OF TOPICAL VITAMIN A ACID., J.R. Thomas, et al.; J Am Acad Dermatol, May, 1981, (issue 4 (5)). Pp. 505-513. Fox-Fordyce Disease pagetitle 941: Fox-Fordyce Disease 03752.TXT Copyright (C) 1988, 1989, 1990, 1991 National Organization for Rare Disorders, Inc. 586: Fragile X Syndrome ** IMPORTANT ** It is possible that the main title of the article (Fragile X Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms X-linked Mental Retardation and Macroorchidism Marker X Syndrome Fraxa Martin-Bell Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Repenning Syndrome Autism General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fragile X Syndrome is a defect of the X chromosome which causes mild mental retardation. The disorder occurs more frequently and severely among males than females. This condition is the leading known familial cause of mental retardation in the U.S. Language delays, behavioral problems, autism or autistic-like behavior (including poor eye contact and hand-flapping), enlarged external genitalia (macroorchidism), large or prominent ears, hyperactivity, delayed motor development and/or poor sensory skills are among the wide range of symptoms associated with this disorder. Symptoms Fragile X Syndrome is characterized by connective tissue abnormalities such as joints which may be extended beyond normal limits (hyperextensible) and heart problems including mitral valve prolapse. Flat feet, large external genitalia (macroorchidism), large ears, and/or frequent ear infections (otitis media) also occur. Additionally, low muscle tone, a long narrow face, high arched palate, dental problems and an inability of the eyes to look in the same direction (strabismus) are common characteristics. Delayed motor development, hyperactivity, behavior problems, toe walking, and/or occasional seizures can also occur in some patients. Autism (a neurological behavior disorder) or autistic like behavior may include poor eye contact, hand flapping, and/or self-stimulating behaviors. (For more information about Autism, please choose "Autism" as your search term in the Rare Disease Database.) Poor sensory skills and mathematical ability are sometimes found in conjunction with good reading skills. Speech and language problems can include automatic repetition of words or phrases (echolalia), inability to mentally move from one idea to another (perseveration), poor language content, and/or dropping of letters or syllables when speaking (cluttering). The I.Q. of people with this disorder is generally lower than normal, although some people may have average intelligence. Causes Fragile X Syndrome tends to affect babies born to women later in life, usually past the age of 35. The condition results from a breakdown of certain areas on the X chromosome. Males have only one X chromosome while females have two. Therefore, when an X chromosome in a female is affected by this syndrome, the normal X chromosome can compensate for the defect, while males tend to have the more severe form of the disorder. In 1991 scientists discovered the gene on the X chromosome that results in Fragile X Syndrome. Researchers are hopeful that this will soon lead to genetic testing for the defect. Affected Population Fragile X Syndrome occurs with more frequency and severity among males than females. In 1986, scientists estimated that one in 981 males and one in 677 females have the fragile X Chromosome. Some of these people do not have symptoms, and many are only mildly mentally retarded. Related Disorders Symptoms of the following disorders can be similar to those of Fragile X Syndrome. Comparisons may be useful for a differential diagnosis: Renpenning Syndrome is a form of inherited X-linked mental retardation due to the presence of the genetic defect at a different site than that of Fragile X Syndrome (marXq28). This disorder occurs more frequently in males, although some females may also be affected. The following disorder may be associated with Fragile X Syndrome as a secondary characteristic. It is not necessary for a differential diagnosis: Autism is a lifelong neurological disorder characterized by onset before thirty months of age, retarded development of communication and language and lack of normal response to people. About seventy-five percent of Autistic children have lower than normal IQ's. Occasionally, an Autistic child shows distinct and unusual skills in music, mathematics, or in using spatial concepts. Autistic people live a normal life span. The prognosis for normal adaptation appears to vary with the level of functioning, intelligence and the educational methods applied. About 5 in 10,000 children have the fully expressed syndrome; 15 in 10,000 children show 2 or more of the main characteristics of autism. Boys are affected four times more frequently than girls. (For more information on Autism, please choose "Autism" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Fragile X Syndrome includes special education, speech, occupational, and sensory integration training, and behavior modification programs. Genetic counseling will be of benefit for families. Other treatment is symptomatic and supportive. Surgical correction of heart defects may sometimes be necessary. Therapies: Investigational Folic acid has been found to improve hyperactivity and attention deficits in some pre-adolescent males with Fragile X Syndrome. However, further study of this treatment is warranted to determine long-term benefits and possible side effects. Families with children who have the Fragile X chromosome are asked to contact Valerie Simon, Michael Reiss, M.D., and Lisa Freund, Ph.D. at the address below to participate in clinical research. Female children are especially needed. Valerie Simon, Michael Reiss, M.D., and Lisa Freund, Ph.D. The Kennedy Institute Behavioral Genetics Unit, Room 103 707 North Broadway Ave. Baltimore, MD 21205 (301) 550-9321 or (301) 550-9313 (collect) This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fragile X Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Fragile X Foundation P.O. Box 300233 Denver, CO 80220 Fragile X Association of Michigan 1786 Edinborough Dr. Rochester Hills, MI 48064 (313) 373-3043 Fragile X Syndrome Support Group P.O. Box 3177 Camden, NJ 08181 Institute for Basic Research in Developmental Disabilities 1050 Forest Hill Road Staten Island, NY 10314 (718) 494-0600 NIH/National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References GENETICS AND EXPRESSION OF THE FRAGILE X SYNDROME: W.T. Brown, et al.; Ups J Med Sci [Suppl] (1986, issue 44). Pp. 137-154. FOLIC ACID AS AN ADJUNCT IN THE TREATMENT OF CHILDREN WITH THE AUTISM FRAGILE-X SYNDROME (AFRAX): C. Gillberg, et al.; Dev Med Child Neurol (October 1986, issue 28(5) ). Pp. 624-627. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1418-1421. Fragile X Syndrome !pagetitle 586: Fragile X Syndrome 03753.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 739: Fraser Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fraser Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cryptophthalmos-Syndactyly Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Renal Agenesis, Bilateral Cat-Eye Syndrome Melnick-Fraser Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fraser Syndrome is a rare genetic disorder characterized by multiple physical abnormalities, malformed or missing kidneys, and incomplete development of the sexual organs. Symptoms Fraser Syndrome is characterized by multiple physical abnormalities. These may include eye defects with complete fusion of the eyelids (cryptophthalmos), malformed or missing kidneys (renal agenesis), partial fusion of the fingers and toes (syndactyly) and middle and outer ear deformities. The nose is usually broad with a flattened bridge and deep indentations on the side of each nostril. Other characteristics may include hair growth that extends from the forehead to the eyebrows, high or cleft palate, malformation of the eyelid ducts that convey tears, a displaced navel, malformed or missing larynx, widely spaced nipples, malformation of the pubic bones and mental deficiency. Incomplete development of the genitals may be symptomatic of this syndrome. In males there may be an abnormal opening of the urethra on the underside of the penis, or failure of the testicles to descend into the scrotum (cryptorchidism). In females there may be a single or double uterus with horn-like extensions (bicornuate uterus), an enlarged clitoris (clitoromegaly), malformed fallopian tubes or a fusion of the vaginal opening (labia). Causes Fraser Syndrome is an autosomal recessive genetic disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Fraser Syndrome affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Fraser Syndrome. Comparisons may be useful for a differential diagnosis: Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid in a pregnant woman. Normally the amniotic fluid acts as a cushion for the developing fetus. When there is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformations of the baby. (For more information on this disorder, choose "Bilateral Agenesis" as your search term in the Rare Disease Database.) Cat-Eye Syndrome (Coloboma of Iris-Anal Atresis Syndrome), is a disorder which is characterized by a fissure in the iris of the eye and the absence of an anal opening. Other abnormalities may include missing kidneys (renal agenesis). Melnick-Fraser Syndrome (Branchio-Oto-Renal Syndrome) is a genetic disorder characterized by hearing loss and kidney malformations, including renal agenesis. Therapies: Standard Treatment of Fraser Syndrome may include surgery to correct some of the malformations associated with this disorder. Other treatment is symptomatic and supportive. Genetic counseling may be of benefit for families of children with this disorder. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fraser Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health & Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (In MD) Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-3643 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1634 National Foundation for Facial Reconstruction 550 First Street New York, NY 11016 (212) 340-6656 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor a McKusick; Johns Hopkins University Press, 1986. Pp. 882. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D.; W.B. Saunders Co. 1988. Pp. 204. THE CLINICAL SPECTRUM OF THE FRASER SYNDROME: REPORT OF THREE NEW CASES AND REVIEW. J. Gattuso, et al.; J MED GENET (September 1987, issue 24 (9)). Pp. 549-555. FRASER SYNDROME (CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME): A REVIEW OF ELEVEN CASES WITH POSTMORTEM FINDINGS. P. Boyd et al.; AM J MED GENET (September 1988, issue 31 (1)). Pp. 159-168. ENT ABNORMALITIES ASSOCIATED WITH FRASER SYNDROME: CASE REPORT AND LITERATURE REVIEW. M. Mina et al.; J OTOLARYNGOL (August 1988, issue 17 (5)). Pp 233-236. Fraser Syndrome pagetitle 739: Fraser Syndrome 03754.TXT Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 442: Freeman-Sheldon Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Freeman-Sheldon Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Whistling Face Syndrome Whistling Face-Windmill Vane Hand Syndrome Craniocarpotarsal Dystrophy FSS Information on the following disease can be found in the Related Disorders section of this report: Arthrogryposis Multiplex Congenita General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Freeman-Sheldon Syndrome is a very rare genetic disorder characterized by abnormal muscle and skeletal development and is present at birth. The face, eyes, hands, and feet are most commonly affected. Intelligence is often within the normal range although some mental deficiency may occur. Symptoms Freeman-Sheldon Syndrome patients are affected by stiffened muscles. Other symptoms include a round forehead, a flat, expressionless face, full cheeks, and a small mouth giving a "whistling" appearance. The nose appears small with flared nostrils, and a broadened bridge with abnormal skin folds present on each side. Eyes are deep-set, may not be focused in the same direction, and tend to squint. The distance between the upper lip and the nose may be abnormally long. An "H" shaped dimple can appear on the chin. The tongue is small, the roof of the mouth is high, and speech is nasal sounding. During infancy, vomiting and swallowing difficulties may result in failure to thrive. The second through fifth fingers are permanently bent toward contracted thumbs, and the skin is thickened over the first finger. Clubfeet with contracted toes and an open or unfused spine (Spina Bifida) may also occur. (For more information on this disorder, choose "Spina Bifida" as your search term in the Rare Disease Database). These deformities can limit usage of involved hands and/or feet. Intelligence is usually normal although some mental deficiency may develop. Abnormalities in the interior bone structure of the skull are often present. In males, a hernia in the genital area (inguinal) or undescended testes may also be present. Ridges across the lower forehead, small stature, low birth weight, curvature of the spine (scoliosis) or dislocation of the hip may also occur in some children with Freeman-Sheldon Syndrome. Causes Freeman-Sheldon Syndrome is inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Approximately thirty-six cases of Freeman-Sheldon Syndrome have been identified in the medical literature worldwide since it was first recognized in 1938 by two English physicians, Drs. Freeman and Sheldon. The disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorder can be similar to those of Freeman-Sheldon Syndrome. Comparisons may be useful for a differential diagnosis: Arthrogryposis Multiplex Congenita is a congenital disease characterized by reduced mobility of multiple joints at birth due to proliferation of fibrous tissue (fibrous ankylosis). The range of motion of all joints is limited or fixed. Shoulders are bent inward and internally rotated, the elbows are extended, and the wrists and fingers are bent. The hips may be dislocated and are usually slightly bent, the knees are extended, and the heel is bent inward from the midline of the leg while the foot is bent inward at the ankle (clubfoot). Intelligence is usually normal and lack of facial expression gives a sad appearance. (For more information on this disorder, choose "Arthrogryposis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Freeman-Sheldon Syndrome usually involves multiple surgeries which can be difficult due to muscle stiffness, thickened tissues or the use of splints or casts to improve bent fingers or feet. Cosmetic facial or hand/foot restructuring surgery can improve appearance. Correction of the thumb deformity may be the first surgery in the long-term treatment of many cases. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Several Freeman-Sheldon Syndrome (FSS) patients with a family history of Malignant Hyperthermia have developed spasms of the muscles that affect jaw movement as well as generalized muscle rigidity after the administration of anesthesia with known Malignant Hyperthermia triggering agents (halothane and succinylcholine). It has been suggested that non-triggering Malignant Hyperthermia agents should be considered for all patients with FSS. The University of Virginia Department of Plastic Surgery is reviewing surgical procedures for FSS. The address is: Craniofacial Abnormalities Dept. of Plastic and Maxillofacial Surgery University of Virginia Medical Center Box 376 Charlottesville, VA 22908 (804) 924-5801 The University of Utah Division of Pediatric Genetics has undertaken a gene mapping study of FSS. The address is: Freeman-Sheldon Gene Mapping Project Division of Pediatric Genetics MREB 413 University of Utah Medical Center Salt Lake City, UT 84112 (801) 581-8943 This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Freeman-Sheldon Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Freeman-Sheldon Parent Support Group 509 E. Northmont Way Salt Lake City, UT 84103 (801) 364-7060 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information, and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References OCULAR ABNORMALITIES IN THE FREEMAN-SHELDON SYNDROME: M. O'Keefe, et al.; Am J Ophthalmol (September 1986, issue 102(3)). Pp. 346-348. NEW EVIDENCE FOR GENETIC HETEROGENEITY OF THE FREEMAN-SHELDON (FS) SYNDROME: M. Sanchez, et al.; Am J Med Genet (November 1986, issue 25(3)). Pp. 507-511. FREEMAN-SHELDON SYNDROME: A DISORDER OF CONGENITAL MYOPATHIC ORIGIN? : J. Vanek, et al.; J Med Genet (June 1986, issue 23(3)). Pp. 231-236. MUSCLE RIGIDITY FOLLOWING HALOTHANE ANESTHESIA IN TWO PATIENTS WITH FREEMAN-SHELDON SYNDROME: Roger Jones, M.D., et al.; Anesthesiology (September 1992, issue 77(3)). Pp. 599-600. Freeman-Sheldon Syndrome'! *!pagetitle 442: Freeman-Sheldon Syndrome 03755.TXT Copyright (C) 1986, 1987, 1988 National Organization for Rare Disorders, Inc. 101: Frey's Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Frey's Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms von Frey's Syndrome Baillarger's Syndrome Dupuy's Syndrome Auriculotemporal Syndrome Salivosudoriparous Syndrome Sweating-Gustatory Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Frey's syndrome is characterized by flushing or sweating on one side of the face when eating certain foods. It results from injury to the parotid gland, a large salivary gland near the ear. Most patients tolerate the condition, but some require treatment. Symptoms In Frey's Syndrome, the cheek and ear on one side of the face sweats and becomes red whenever the patient eats hot, spicy, or very acidic food, or chocolate. The flushed part of the face becomes less sensitive to heat. Over time, a slightly larger area may become involved. In men, the predominant manifestation is sweating. In women, the flushing predominates. Causes Frey's syndrome usually develops only after injury, surgery, or inflammation of one of the parotid glands and the nerve supplying it. The sweating and flushing are due to abnormal regeneration of parasympathetic nerve fibers which have been injured, so the sweat glands and blood vessels of the skin which normally have a sympathetic innervation acquire a parasympathetic nerve supply. These aberrant parasympathetic nerves are stimulated when the patient eats. Related Disorders Hyperhidrosis (excessive sweating) may affect the entire body or be confined to certain areas of the body. When the entire body is affected, the eccrine sweat glands cause the problem, while the localized type is produced by apocrine sweat glands. When Hyperhidrosis is localized, it usually affects the palms, soles, underarms, the area between the breasts, or the groin. (For more information, choose "hyperhidrosis" as your search term in the Rare Disease Database.) Therapies: Standard When Frey's Syndrome causes excessive discomfort, the patient should be treated. Procaine, a local anesthetic, may be injected into the auriculotemporal nerve supplying the area in question. Surgically, the nerve projections near the ear and cheek may be modified. Scopolamine cream may be applied to the affected skin. Therapies: Investigational The orphan drug Glycopurrolate is being developed by Robins Corporation for patients with Frey's Syndrome. This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Frey's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Glycogen Storage Diseases Box 896 Durant, IA 52747 (319) 785-6038 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Frey's Syndrome SOCI# pagetitle 101: Frey's Syndrome 03756.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 102: Froelich's Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Froelich's Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Adiposogenital Dystrophy Dystrophia Adiposogenitalis Sexual Infantilism Babinski-Froehlich's Syndrome Hypothalamic Infantilism - Obesity Leaunois-Cleret Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Froelich's syndrome, or adiposogenital dystrophy, is characterized by delayed puberty, small testes in males, and obesity. It affects primarily males. In recent years, Froelich's syndrome has come to refer exclusively to such features in boys who have lesions in the hypothalamic region of the brain. (Different parts of the hypothalamus control sexual development and appetite.) Teenagers with this disorder must be differentiated from those who simply have a familial trait of slower than normal growth or Prader-Willi Syndrome. Symptoms Puberty is considered delayed if the external genitalia fail to enlarge normally by about the age of thirteen and a half, or if the period between the beginning and the completion of the growth of the genitalia (in girls, breast development and the first menstruation) takes longer than 5 years. In Froelich's Syndrome, obesity accompanies such a delay. Body growth may also be slow, and patients often remain short in stature. Secondary sexual characteristics such as facial and body hair, voice changes, coarsening of the skin, etc., appear very slowly. Finger nails are often malformed or undersized. Headaches are common. Some patients may have mental retardation, visual disturbances, and, rarely, diabetes mellitus. Causes In some cases, the anterior pituitary, an endocrine gland attached to the brain, fails to secrete the hormones necessary for puberty to proceed because of some lesion to the gland. Froelich's syndrome is due to lesions in the hypothalamus, one part of which produces substances that stimulate the pituitary; another area of the hypothalamus is believed to regulate the appetite. Tumors and inflammation due to infections such as tuberculosis or encephalitis usually cause the lesions. Related Disorders Hypogonadotropic hypogonadism is a disorder of development of the region of the hypothalamus that regulates the pituitary hormones (gonadotropins) that in turn regulate the functioning of the gonads. In the congenital Laurence-Moon-Biedl syndrome, the child has defects in the ears and/or eyes, mental retardation, anomalies of the fingers and toes, obesity, and underdevelopment of the genitalia. In Prader-Willi syndrome, also congenital, neurological and behavioral abnormalities accompany hypogonadism and obesity. (For more information on these disorders, choose "Laurence-Moon" and "Prader-Willi" as your search terms in the Rare Disease Database). Therapies: Standard Pituitary extracts may be administered to replace the missing hormones in patients with Froelich's Syndrome. Hypothalamic tumors should be removed if possible, although this will not restore destroyed tissue. Appetite may be very difficult to manage, although weight control depends on this. Therapies: Investigational This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Froelich's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 References Regulation of the endocrine hypothalamus. Reichlin, S. Med Clin North Am 1978 Mar; 62(2):235-50.... Froelich's Syndrome pagetitle 102: Froelich's Syndrome 03725.TXT Copyright (C) 1986, 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 245: Erythromelalgia _________________________ ** IMPORTANT ** It is possible the main title of the article (Erythromelalgia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mitchell Disease Weir Mitchell Syndrome Gerhardt Disease DISORDER SUBDIVISIONS Primary Erythromelalgia Secondary Erythromelalgia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Erythromelalgia is a syndrome of sudden intensive spastic dilation of blood vessels (paroxysmal vasodilation). This causes burning pain, increased skin temperature, and redness of the feet and, less often, the hands. Symptoms Erythromelalgia is characterized by attacks of burning pain in hot red feet or hands. Increase of symptoms is often triggered by hot weather. Symptoms may remain mild for years or they may become so severe that total disability can result. Causes Primary Erythromelalgia may be transmitted as a dominant hereditary disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Secondary Erythromelalgia may occur in patients with proliferative disorders of the bone marrow, hypertension, impairment of the return of venous blood from the legs (venous insufficiency), diabetus mellitus, or polycythemia vera. Affected Population Males and females are affected in equal numbers. Related Disorders Causalgia syndrome or Traumatic Erythromelalgia is characterized by a persistent diffuse burning pain, especially in the palms of the hands and the soles of the feet. It is aggravated by minimal physical stimuli such as friction and heat. Therapies: Standard Attacks of Erythromelalgia can sometimes be avoided or reduced by rest, elevation of the extremity, and cold applications to the affected area. Correction of the underlying disease in secondary forms of Erythromelalgia is indicated. In Primary Erythromelalgia modest doses of aspirin may produce relief, but this therapy is not always successful. Avoiding factors that produce vasodilation is usually helpful. The use of ephedrine, propranolol or methysergide may also produce relief in some patients. Therapies: Investigational Sodium nitroprusside (sodium ferri cyanide) has been used intravenously with some success on Erythromelalgia. It is a potent antihypertensive drug that can cause serious side effects. More research is necessary to determine the safety and effectiveness of this drug for Erythromelalgia. This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Erythromelalgia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Erythromelalgia Association of America Good Samaritan Hospital & Medical Center 1015 NW 22nd Avenue Portland, OR 97210 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SODIUM NITROPRUSSIDE TREATMENT IN ERYTHROMELALGIA: S. Ozsoylu, et al.; European Journal Pediatr (1984: issue 141). Pp. 185-187. Erythromelalgia McGr# pagetitle 245: Erythromelalgia 03726.TXT #Copyright (C) 1992 National Organization for Rare Disorders, Inc. 930: Esophageal Atresia and/or Tracheoesophageal Fistula _________________________ ** IMPORTANT ** It is possible that the main title of the article (Esophagus Atresia and/or Tracheoesophageal Fistula) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Atresia of Esophagus with or without Tracheoesophageal Atresia Esophageal Atresia Tracheoesophageal Fistula Tracheoesophageal Fistula with or without Esophageal Atresia Information on the following diseases can be found in the Related Disorders section of this report: VACTERL Association General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Esophageal Atresia and Tracheoesophageal Fistula are disorders of the esophagus that may be inherited as an autosomal recessive genetic trait, or may result from developmental problems in a fetus. Esophageal Atresia is a condition in which the patient is born with an abnormality in the part of the digestive tube that runs from below the tongue to the stomach (esophagus). This disorder is commonly associated with Tracheoesophageal Fistula which is an abnormal tubelike passage between the windpipe and esophagus. Symptoms of these disorders may be excessive salivation, choking, the return of swallowed food into the mouth, and/or a swollen abdomen when a Tracheoesophageal Fistula is present. Symptoms Esophageal Atresia and Tracheoesophageal Fistula are disorders in which the patient is born with an abnormality in the part of the digestive tube that runs from below the tongue to the stomach (esophagus) and/or an abnormal tubelike passage between the windpipe and esophagus (tracheoesophageal fistula). Typically these disorders occur together but they may also occur alone. Symptoms of these disorders may be excessive salivation, choking, and the return of swallowed food into the mouth. When a tracheoesophageal fistula is present, the abdomen may be swollen due to air passing from the fistula to the stomach. Inflammation of the lung (pneumonitis) may occur due to the return flow of stomach contents through the fistula into the lungs. Lung tissue may collapse (atelectasis) from inhaling saliva and mucous through air passages into the bronchial tubes and lungs (tracheobranchial tree). Infection, dehydration and/or an imbalance of electrolytes (the elements in the blood, tissue and cell fluid needed in correct amounts for the use of energy) may also occur in some patients. Abnormalities of the skeleton, kidney, heart, anus and gastrointestinal tract have been found in some patients with this disorder. Causes Esophageal Atresia and Tracheoesophageal Fistula are disorders that may result from developmental problems of a fetus (with no known cause), or in some cases it can be inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Esophageal Atresia and Tracheoesophageal Fistula are disorders that affect males and females in equal numbers. Approximately one in every 5,000 live births will be affected with some form of these disorders. Related Disorders Symptoms of the following disorders can be similar to those of Esophageal Atresia and/or Tracheoesophageal Fistula. Comparisons may be useful for a differential diagnosis: VACTERL Association is a very rare combination of developmental abnormalities. VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia, congenital (C)ardiac disease, (T)tracheo (E)sophageal fistula, (R)enal anomalies, radial dysplasia, and other (L)imb defects. These symptoms are present at birth. Symptoms occur in various combinations and can be part of several other disorders. Related disorders such as the VATER Association and REAR Syndrome, which are composed of some of the same symptoms, have been expanded into the VACTERL Association. Nearly all cases have occurred sporadically (cause unknown), although some familial cases have been identified. (For more information on this disorder, choose "Vacterl Association" as your search term in the Rare Disease Database). Therapies: Standard The presence of Esophageal Atresia and Tracheoesophageal Fistula are suspected when an infant has an abnormal amount of saliva, excessive coughing, choking, and/or returns swallowed food. The disorder is detected when a catheter (tube used to remove or return fluid) is unable to pass into the stomach and/or there is air found in the abdomen. Prior to surgical repair oral feedings may be withheld and a tube may be inserted into the upper esophagus to prevent material such as vomit from getting into the lungs and causing aspiration pneumonia. The esophageal atresia and /or fistula can be repaired surgically when the infant is over five and a half pounds, pneumonia free, and there are no other more serious abnormalities. Surgery may require several stages. The fistula may be tied off and an artificial opening into the stomach through the abdomen may be made. A tube is then inserted for feeding. This procedure is called a gastrostomy. An incision is made into the chest wall and the esophageal atresia and/or fistula are repaired. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Esophageal Atresia and/or Tracheoesophageal Fistula, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Diabetes, Digestive and Kidney Disease Information Clearinghouse 9000 Rockville Pike Bethesda, MD 20892 (301) 496-3583 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1090-91. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 642-43. NELSON TEXTBOOK OF PEDIATRICS: 14th Ed.; Richard E. Behrman, M.D., Editor: W.B. Saunders Company, 1992. Pp. 474, 940-41. GROWTH AND FEEDING PROBLEMS AFTER REPAIR OF ESOPHAGEAL ATRESIA: J.W. Puntis, et al.; Arch Dis Child (January, 1990, issue 65(1)). Pp. 84-8. PRIMARY REPAIR WITHOUT ROUTINE GASTROSTOMY IS THE TREATMENT OF CHOICE FOR NEONATES WITH ESOPHAGEAL ATRESIA AND TRACHEOESOPHAGEAL FISTULA: D.W. Shaul, et al.; Arch Surg (October, 1989, issue 124(10)). Pp. 188-90. CARE OF INFANTS WITH ESOPHAGEAL ATRESIA, TRACHEOESOPHAGEAL FISTULA, AND ASSOCIATED ANOMALIES: T.M. Holder, et al.; J Thorac Cardiovasc Surg (December, 1987, issue 94(6)). Pp. 828-35. Esophageal Atresia and/or Tracheoesophageal Fistula OME?G$ J$pagetitle 930: Esophageal Atresia and/or Tracheoesophageal Fistula 03727.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 195: Exstrophy of the Bladder _________________________ ** IMPORTANT ** It is possible the main title of the article (Exstrophy of the Bladder) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Ectopia Vesicae General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Exstrophy (the turning inside out) of the Bladder is a developmental abnormality marked by the absence of a portion of the lower abdominal wall and the posterior vesical (bladder) wall. The posterior vesical (bladder) wall turns outward through the opening. Urine is excreted through this opening in the abdominal wall. Symptoms Exstrophy of the Bladder is characterized by incontinence (inability to hold back urine). The pubic arch is open and the ischia (parts of the hip bone) are widely separated and connected by a fibrous band. The connection between the ureter (tube from the kidney to the bladder) and the bladder is constricted, and the ureters are dilated (wider than usual). If this condition is not corrected, urine will start flowing back into the ureters, and pyelonephritis (inflammation of the kidneys) and renal (kidney) failure are possible. Causes Exstrophy of the Bladder is a congenital disorder caused by defective development. It may possibly be due to rupture of the bladder during fetal life, or transposition of the earliest embryologic form of the organ resulting from a change in position of the vitelline duct (a duct in earliest embryologic development). Affected Population Exstrophy of the Bladder is a congenital abnormality which occurs in males 7 times more often than in females. Therapies: Standard Exstrophy of the Bladder is corrected by surgically implanting the ureter into the sigmoid part of the large intestine (ureterosigmoidostomy) with or without a colostomy (surgical creation of an opening between the colon and the surface of the abdominal wall near the implantation). Another common procedure to correct this disorder is ileal (to the ileum) or colon loop urinary diversion; i.e., the diversion of the urinary flow by surgically connecting the ureter to a loop of the ileum (the last part of the small intestine), or to the colon (the part of the large intestine before the rectum). Reconstruction of the genitalia when necessary is usually begun by the age of two years. The prognosis for maintenance of normal kidney function is relatively good. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Exstrophy of the Bladder, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Support Group for Exstrophy of the Bladder 5075 Medhurst Street Solon, OH 44139 (216) 248-6851 Simon Foundation P.O. Box 815 Wilmette, IL 60091 (321) 864-3913 H.I.P.(Help for Incontinent People) P.O. Box 544 Union, SC 27379 National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 References THE MERCK MANUAL, 15th ed., Robert Berkow, M.D., ed in chief, published by Merck, Sharp & Dohme Research Labs, Rahway, NH, 1987. Pp. 1957. THE CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Eds; W.B. Saunders Co., 1988. Pp. 2107, 650. Exstrophy of the Bladder pagetitle 195: Exstrophy of the Bladder 03728.TXT Copyright (C) 1986, 1988, 1989, 1990, 1991 National Organization for Rare Disorders, Inc. 200: Fabry Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fabry Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Anderson-Fabry Disease GLA Deficiency Ceramide Trihexosidase Deficiency Angiokeratoma Diffuse Angiokeratoma Corporis Diffusum Hereditary Dystopic Lipidosis Alpha-Galactosidase Deficiency Glycolipid Lipidosis Information on the following diseases can be found in the Related Disorders section of this report: Angiokeratoma of Fordyce Angiokeratome of Mibelli Lysosomal Storage Diseases General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fabry disease is a rare inherited disorder which results from a deficiency of an enzyme known as alpha-galactosidase A. This enzyme is responsible for the breakdown of compounds called glycolipids (fats containing carbohydrates like glucose). When the enzyme is missing or non-functional, these glycolipids accumulate, particularly in the walls of blood vessels throughout the body. This sex-linked hereditary disorder primarily affects males, but carrier females occasionally may have mild manifestations. Symptoms In males with Fabry disease, the first symptoms usually noted in childhood include the development of small, red skin lesions (known as angiokeratoma) on the abdomen, groin and upper thighs and episodes of burning/tingling pain in the hands and feet. The painful episodes are triggered by fever, fatigue, stress and rapid changes in the weather. With advancing age, males experience problems associated with the slowly progressive narrowing and blockage of blood vessels through the body. Most patients develop kidney disease and require chronic dialysis or kidney transplantation. Patients may also have heart disease or strokes due to blood vessel involvement. Males with milder symptoms have been described who have not experienced the pain and who do not develop kidney failure. Carrier females, who carry one disease-causing gene and one normal gene, may experience occasional episodes of pain, particularly in childhood. About 80% of carrier females have a subtle change in their corneas which does not affect vision. Most carrier females live a normal life-span. Causes Fabry disease is a hereditary, sex-linked disease which results from the deficiency of an enzyme called alpha-galactosidase A. The missing enzyme causes accumulation of glycolipid products (fats containing carbohydrates like glucose) in various tissues of the body and in particular in the walls of blood vessels. The disorder is inherited as an x-linked recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Fabry disease strikes predominantly males. Females with this disorder have a milder form of the disease than males. There are an estimated 1 in 40,000 persons with Fabry disease in the US. Related Disorders Symptoms of the following disorders can be similar to those of Fabry disease. Comparisons may be useful for a differential diagnosis: The Angiokeratomas of Fordyce are similar in appearance to the small red lesions in Fabry disease but are limited to the scrotum and usually appear after age thirty. The Angiokeratomas of Mibelli are wart-like lesions on the extensor surfaces of the extremities of young adults and are associated with chilblains (skin lesions resulting from exposure to extreme cold). Lysosomal Storage Diseases such as Fucosidosis, Sialidasis, Adult-Type B Galactosidase Deficiency and Aspartylglucosominuria have angiokeratoma which are similar or indistinguishable from the lesions of Fabry disease. Therapies: Standard Relief from the chronic episodes of pain in the extremities can be achieved with daily oral medication (dilantin). Kidney failure can be treated by chronic hemodialysis or kidney transplantation. Other problems should be treated symptomatically after consultation with a physician experienced in the care of Fabry patients. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Recently, research efforts have resulted in the manufacture of the orphan drug alpha-galactosidase A as a treatment for Fabry Disease. The FDA is testing the biologic Alpha-Galactosidase A (CC Galactosidase), developed by Dr. David Calhoun, as a treatment for Fabry's Disease. More research is needed to determine the long-term safety and effectiveness of this treatments. For more information, physicians may contact the International Center for Fabry Disease listed in the Resources section. This disease entry is based upon medical information available through October 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203-746-6518 R.J. Desnick, Ph.D., M.D. International Center for Fabry Disease Mt. Sinai School of Medicine 5th Ave at 100th St. New York, NY 10029 212-241-6944 Dr. Roscoe O. Brady NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-3285 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St. Rm. 304 Brookline, MA 02164 617-277-4463 0r 277-3965 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 914-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1564-1567. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 1754-1774. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1144-1145. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987, Pp. 522, 1012. Fabry Disease n Sy!! $!pagetitle 200: Fabry Disease 03729.TXT %Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 480: Factor IX Deficiency _________________________ ** IMPORTANT ** It is possible the main title of the article (Factor IX Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Christmas Disease Hemophilia B Plasma Thromboplastin Component Deficiency PTC Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Hemophilia A (Classic Hemophilia) Von Willebrand Disease General Discussion ** IMPORTANT** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Factor IX Deficiency is a severe genetic bleeding disorder that resembles classic Hemophilia A, although it occurs only one-fifth as often as Hemophilia A. Factor IX is a component of the blood clotting substance thromboplastin. It is deficient at birth in patients with this disorder. Factor IX Deficiency varies in severity between families and occurs most often among males. In rare instances, female carriers have been known to exhibit this deficiency in a mild form. Symptoms include prolonged bleeding episodes, and in very severe cases, joint pain and bone deformities. Symptoms Factor IX Deficiency (Hemophilia B) is marked by spontaneous or injury-related incidents of prolonged bleeding, which may occur internally as well as near or on the skin. Individuals with mild cases may experience severe bleeding only after dental extractions or surgery. In very severe cases, bleeding into any area of the body can occur, including the gastrointestinal tract and the central nervous system. In very severe cases, joints, bones or muscles may be affected. Accumulations resulting from internal bleeding inside joints, bones or muscles can cause pain and possibly deformities. Eventually, the ends of long bones may become eroded and bone surface (periosteal) pain, cell death (necrosis) and pseudocyst formation may become chronic problems. Substances which inhibit the activity of Factor IX may develop in some patients with Factor IX Deficiency after they have received transfusions over a long period of time. Causes Factor IX Deficiency is inherited as an X-linked recessive trait with incomplete penetrance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Symptoms are caused by a deficiency of factor IX which leads to diminished amounts of the blood clotting substance known as thromboplastin. Affected Population Factor IX Deficiency predominately affects males although cases among female carriers have been documented in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Factor IX Deficiency. Comparisons may be useful for a differential diagnosis: Hemophilia A (classic hemophilia) is an inherited blood disorder marked by a permanent tendency to prolonged bleeding, either spontaneous or caused by injury. It is caused by a deficiency in blood factor VIII. This disorder occurs almost exclusively among males, and is characterized by prolonged clotting time, decreased production of thromboplastin, and diminished conversion of prothrombin. (For more information on this disorder, choose "Hemophilia" as your search term in the Rare Disease Database). Von Willebrand Disease is a hereditary blood clotting disorder transmitted as a dominant trait. This disorder is characterized by a tendency to bleed primarily from the mucous membranes with prolonged bleeding time, normal platelet count with possible defects, as well as partial and variable deficiency of blood factor VIII. Increased risk of excessive bleeding following surgery, dental procedures, or injury, occurs in patients with this disorder. With proper treatment and appropriate precautions, few patients become seriously handicapped by Von Willebrand Disease. The tendency to prolonged bleeding usually decreases with age. (For more information on this disorder, choose "Von Willebrand" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Factor IX Deficiency consists of transfusions of prothrombin complex concentrates rich in factor IX, and/or transfusions of fresh frozen plasma. Fresh frozen plasma is useful for minor episodes of bleeding, whereas prothrombin concentrates are most effective for treating severe bleeding episodes. The risk of contracting AIDS or hepatitis exists when prothrombin concentrates from an infected donor are not screened properly and are used to treat Factor IX Deficiency patients. Additionally, there is a possibility that the increased amounts of Factor IX may cause blood clotting inside veins. Dental extractions and all surgical procedures should be undertaken only with careful precautions. When pseudotumors develop inside joints, muscles or bones, they may be removed surgically if they cause pain and disability. Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive. (For more information, see the AIDS Update section of NORD Services.) Therapies: Investigational Severe cases of Factor IX Deficiency may be treated with plasmapheresis when conventional procedures are not successful in controlling bleeding. This experimental procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Factor IX Deficiency. Monoclonal Factor IX is being used in the replacement treatment and prophylaxis of hemorrhagic complications of Factor IX Deficiency. It is manufactured by Armour Pharmaceutical Co., 920A Harvest Dr., Suite 200, Blue Bell, PA 19422. This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Factor IX Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Hemophilia Foundation The Soho Building 110 Greene Street #406 New York, NY 10012 (212) 219-8180 Canadian Hemophilia Society, National Office 100 King Street West, Suite 210 Hamilton, Ontario L8P 1A2 World Federation of Hemophilia 1155 Dorchester Boulevard West, Suite 1517 Montreal, Quebec, H3B 2L3 Canada (514) 866-0442 The Haemophilia Society P.O. Box 9 16 Trinity Street London SE1 1DE England 01-407-1010 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7TH Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1385-1386. THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1549-1550. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1014. INDUCTION OF SPLIT TOLERANCE AND CLINICAL CURE IN HIGH-RESPONDING HEMOPHILIACS WITH FACTOR IX ANTIBODIES: I.M. Nilsson, et al.; Proc Natl Acad Sci (December 1986, issue 83(23)). Pp. 9169-9173. REPAIR OF VENTRICULAR SEPTAL DEFECT AND AORTIC REGURGITATION ASSOCIATED WITH SEVERE HEMOPHILIA B: A. Mazzucco, et al.; Ann Thorac Surg (July 1986, issue 42(1)). Pp. 97-99. Factor IX Deficiency &pagetitle 480: Factor IX Deficiency 03730.TXT e0e0Copyright (C) 1989, 1991, 1993 National Organization for Rare Disorders, 66: Factor XIII Deficiency ** IMPORTANT ** It is possible that the main title of the article (Factor XIII Deficiency) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Fibrin Stabilizing Factor Deficiency Laki-Lorand Factor Deficiency Fibrinase Deficiency Fibrinoligase Deficiency Plasma Transglutaminase Deficiency Disorder Subdivisions: Congenital Factor XIII Deficiency Acquired Factor XIII Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Von Willebrand Disease Factor IX Deficiency Hemophilia Schoenlein-Henoch Purpura General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Factor XIII Deficiency is an extremely rare inherited disorder characterized by abnormal blood clotting that can result in internal bleeding. There are two forms of the disease: Acquired Factor XIII Deficiency and Congenital Factor XIII Deficiency. Symptoms Factor XIII Deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, large cysts may form in the surrounding tissue that may destroy bone and cause peripheral nerve damage, usually in the thigh and buttocks areas. At birth, an infant with Factor XIII Deficiency may bleed from the umbilical cord. This rarely occurs in other blood clotting disorders. The most serious hemorrhaging that can occur in Factor XIII Deficiency is in the central nervous system following mild head trauma. In some cases hemorrhaging may stop spontaneously without treatment. Women with Factor XIII Deficiency who become pregnant usually have miscarriages if they do not receive treatment. Men with this disorder may be sterile or have extremely low sperm counts. Replacing Factor XIII in these men does not correct sterility. Some of the less frequently seen symptoms of this disorder are poor wound healing, excessive bleeding from wounds, blood blisters attached to the abdominal wall (retroperitoneal hematomas), and/or blood in the urine (hematuria). Some symptoms are seldom or never seen in people with Factor XIII Deficiency and this may help distinguish it from other bleeding disorders. These may include excessive blood loss during menstruation, hemorrhages within the eye, gastrointestinal bleeding, arthritis caused by an accumulation of blood in the joints, postoperative hemorrhage, bleeding from mucous membranes, and/or tiny red spots on the skin (petechiae). Factor XIII Deficiency is not generally a threat to patients who need surgery. The small amount of Factor XIII present in blood transfusions generally prevents postoperative hemorrhaging. Excessive bleeding from wounds, abrasions, or even spontaneous abortions is not common unless a person with this disorder uses aspirin or similar medications. Causes Factor XIII Deficiency is a rare disorder that may be acquired in conjunction with other disorders such as Sickle Cell Disease and Schoenlein-Henoch Purpura. It may sometimes occur as a result of cirrhosis or cancer of the liver. In these cases, the levels of Factor XIII may return to normal when the underlying liver disease is treated. People who have been treated with the drug isoiazid or have chronic kidney failure may develop anticoagulation antibodies that impair the clotting function of Factor XIII. (For more information on these disorders, choose "Sickle Cell" and "Schoenlein-Henoch Purpura" as your search term in the Rare Disease Database.) In congenital Factor XIII Deficiency the disorder is inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In the past Factor XIII Deficiency was believed to be inherited as an autosomal recessive genetic trait, which means both parents have to carry the gene in order for a child to inherit two genes that cause the disease. It is possible that there is both a dominant and recessive form of this disease. In the recessive form people who inherit only one gene for autosomal recessive Factor XIII Deficiency have reduced levels of Factor XIII in their blood but usually have no symptoms. Affected Population Factor XIII Deficiency is a rare disorder that affects males and females in equal numbers. The disorder has been identified in pregnant women who are about to deliver, in newborns, and in people who have undergone major surgery. Factor XIII Deficiency may also occur in people with Sickle Cell Disease and in many children with Schoenlein-Henoch Purpura. Related Disorders Symptoms of the following disorders can be similar to those of Factor XIII Deficiency. Comparisons may be useful for a differential diagnosis: Von Willebrand Disease is a rare inherited blood disorder of infancy or childhood characterized by prolonged bleeding and abnormally slow blood clotting time. Symptoms develop due to a deficiency of factor VII and von Willebrand factor, along with a structural defect of platelets in the blood. Symptoms may include heavy nose bleeds and excessive bleeding after injury, menstruation, childbirth, surgery, and/or some dental procedures. (For more information on this disorder, choose "von Willebrand Disease" as your search term in the Rare Disease Database.) Factor IX Deficiency is a rare inherited blood disorder characterized by severe and prolonged profuse bleeding (hemorrhaging) and in extreme cases, joint pain and bone deformities. Symptoms develop due to a deficiency of Factor IX. This blood factor is a component of thromboplastin which enables the blood to clot. In mild cases of Factor IX Deficiency, patients hemorrhage only after surgery or tooth extractions. In more severe cases, hemorrhage can occur in any part of the body, including the central nervous system and the digestive tract. In extreme cases, internal hemorrhaging occurs in the muscles, joints, and/or bones, resulting in deformity. (For more information on this disorder, choose "Factor IX Deficiency" as your search term in the Rare Disease Database.) Hemophilia is a rare inherited blood clotting disorder caused by inactive or deficient blood proteins (usually Factor VIII). This disorder is found in males almost exclusively and may be mild, moderate, or severe. The most serious symptom of Hemophilia is uncontrolled internal bleeding that can begin spontaneously without any apparent cause. Internal bleeding may cause permanent damage to joints and muscles. Bruises and trauma can trigger episodes of serious internal bleeding. (For more information on this disorder, choose "Hemophilia" as your search term in the Rare Disease Database.) Schoenlein-Henoch Purpura is a rare inherited disorder of the capillaries characterized by reddish skin lesions and internal hemorrhaging. This disorder can affect the joints, gastrointestinal tract, kidneys, and in some rare cases, the central nervous system. Initial symptoms include red skin, swelling, and hives. Patients may also experience fever and a general feeling of weakness (malaise). Severe localized pain may occur if blood and plasma accumulate in the joints or abdomen. (For more information on this disorder, choose "Purpura, Schoenlein-Henoch" as your search term in the Rare Disease Database.) Therapies: Standard The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII Deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. This has proven to be a highly successful preventive treatment for the disorder. Patients typically have a normal response to trauma while on these transfusions. When patients with Factor XIII Deficiency have a high incidence of bleeding inside the head (intracranial), preventive treatment is necessary. Pregnant women can be given exogenous Factor XIII to help prevent spontaneous abortion. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Isolated Factor XIII preparations are under development as a potential treatment for Factor XIII Deficiency. The orphan drug fibrogammin is being tested as a possible treatment for this disorder (including Congenital Factor XIII Deficiency). For more information on this treatment, contact: Hoechst Roussel Pharmaceuticals, Inc., Route 202, 206 North, Somerville, NJ, 08876. Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project that is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. The orphan product Factor XIII, Recombinant, is being investigated for the treatment of Congenital Factor XIII Deficiency. The product is sponsored by: Zymogenetics, Inc. 4225 Roosevelt Way Seattle, WA 98105 This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Factor XIII Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Hemophilia Foundation The Soho Building 110 Greene St., #406 New York, NY 10012 (212) 219-8180 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 World Federation of Hemophilia 1155 Dorchester Blvd. West, Suite 1517 Montreal, Quebec, H3B 2L3 Canada (514) 866-0422 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little Brown and Co., 1987. Pp. 1017. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 379-381. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1010-1011. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 1491-1492. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 680-81. NEONATAL FACTOR XIII DEFICIENCY: J. Landman et al.; Clin Pediatr (1985 Jun; 24(6)). Pp. 352-353. INHERITED FACTOR XIII DEFICIENCY: D. Waks et al.; Fondu P; Acta Clin Belg (1989;44(1)). Pp. 52-57. Factor XIII Deficiency j1pagetitle 66: Factor XIII Deficiency 03731.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 597: Fahr's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fahr's Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Fahr Disease Nonarteriosclerotic Cerebral Calcification Striopallidodentate Calcinosis SPD Calcinosis Cerebrovascular Ferrocalcinosis Information on the following disease can be found in the Related Disorders section of this report: Parkinson Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fahr's Disease is a rare neurological disorder characterized by abnormal calcium deposits in certain areas of the brain. Major symptoms develop when these deposits accumulate including progressive deterioration of mental functioning, loss of previous motor development, spastic paralysis and twisting movements of the hands and feet (athetosis). Mental retardation and optic atrophy can also occur. In many cases, this disorder is inherited, although some cases may appear with no apparent genetic cause. Symptoms Fahr's Disease is marked by abnormal calcium deposits in areas of the brain, notably the basal ganglia, cerebral cortex, dentate nucleus, subthalamus and red nucleus areas. Loss of brain cells also occurs. These mineral deposits may also be found in areas where the myelin sheath surrounding nerves has been lost (demyelination), and in fatty (lipid) deposits. The heads of people with Fahr's Disease are often smaller than normal and appear to be round. Progressive deterioration of mental abilities (dementia) and loss of previous motor development are accompanied by spastic paralysis and in some cases, twisting movements of the hands and feet (athetosis). Vision disturbances (optic atrophy) and ear infections may also occur. Features of Parkinson's Disease found in this disorder may include tremors and rigidity, a masklike facial expression, shuffling walk, and a pill rolling motion of the fingers. Muscle cramping (dystonia), uncontrollable spasmodic irregular movements (chorea), and seizures can also occur. (For more information on Parkinson's Disease, please choose "Parkinson" as your search term in the Rare Disease Database.) The parathyroid glands may malfunction and low blood levels of calcium (hypoparathyroidism) may also occur in some cases of Fahr's Disease. Causes Fahr's Disease is thought to be inherited as an autosomal recessive trait although some cases appear sporadically, possibly as a consequence of fetal infection. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Fahr's Disease is a very rare disorder affecting males and females in equal numbers. Related Disorders The following disorder may be associated with Fahr's Disease as a secondary characteristic. It may not be necessary for a differential diagnosis: Parkinson's Disease is a progressive neurological disorder characterized by tremor, muscular rigidity, slowness of movements (bradykinesia) balance problems and difficulty in initiating movements. In Parkinson Disease, there are degenerative changes in the substantia nigra and other pigmented regions of the brain, and a decrease in dopamine levels in neurons associated with these areas. In the great majority of cases, the cause is unknown. Parkinsonian symptoms may very rarely appear after infarcts (strokes), tumors in the vicinity of the basal ganglia, hydrocephalus, cerebral trauma, encephalitis, or exposure to certain drugs and toxins. Parkinson's Disease appears in adulthood and progresses very slowly over years. (For more information on this disorder, choose "Parkinson" as your search term in the Rare Disease Database). Therapies: Standard Treatment of ear infections in Fahr's Disease involves antibiotic drugs and/or pain medication as needed. Lithium Carbonate may be prescribed to treat some psychotic symptoms of this disorder. Other treatment is symptomatic and supportive. Genetic counseling may be of benefit for patients and their families if they have the hereditary form of Fahr's Disease. Therapies: Investigational Research is being conducted on Fahr's Disease to find better diagnostic techniques and enhance understanding of genetic aspects. A Fahr's Disease registry has been developed and families are invited to register cases of Fahr's Disease with: Bala V. Manyam, M.D. Fahr's Disease Registry Parkinson's Disease and Movement Disorders Clinic Southern Illinois University School of Medicine P.O. Box 19230 Springfield, IL 62794-9230 This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fahr's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Parkinson's Disease and Movement Disorders Clinic Bala V. Manyam, M.D. Fahr's Disease Registry Southern Illinois University School of Medicine P.O. Box 19230 Springfield, IL 62794-9230 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References IDIOPATHIC NONARTERIOSCLEROTIC CEREBRAL CALCIFICATION (FAHR'S DISEASE): AN ELECTRON MICROSCOPIC STUDY: S. Kobayashi, et al.; Acta Neuropathol (Berl) (1987, issue 73(1)). Pp. 62-66. THE TREATMENT OF PSYCHOTIC SYMPTOMS IN FAHR'S DISEASE WITH LITHIUM CARBONATE: K.M. Munir; J Clin Psychopharmacol. (February 1986, issue 6(1)). Pp. 36-38. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 879. Fahr's Disease pagetitle 597: Fahr's Disease 03732.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 359: Fairbank Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Fairbank Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Multiple Epiphyseal Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Conradi-Hunermann Syndrome McCune-Albright Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fairbank Disease is a mild form of dwarfism inherited as a dominant trait. Symptoms may not be apparent during early childhood, but pain may later occur in hips, knees or ankles due to developmental abnormalities of bones in the hips. Stature may be only slightly shortened while arms, legs, fingers or toes may be unusually short. In some cases, movement may be somewhat restricted. Symptoms The most significant symptom of Fairbank Disease is the unusual bone modification in the hips, and less often, shoulders, feet or hands. The vertebrae are usually normal, but sometimes show minimal modifications. The upper end of the leg bones (femurs) including the cartilage tends to change in shape and density and then recover, reforming bone tissue. However, the bones may then be slightly shorter. This disorder usually is first noticed in children during the second to the fifth years of age due to waddling or awkward walking. From ages five to fourteen, patients may experience pain in hips, knees or ankles due to continuing changes in bone structure. Causes Fairbank Disease is inherited as a dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Fairbank Disease is present at birth and is usually diagnosed between the ages of two and five years. This mild form of dwarfism is a lifelong condition and can affect males and females in equal numbers. Related Disorders There are at least ten different forms of Dysplasia affecting bone structure formations, with different symptom combinations. Many of these disorders produce dwarfism to some degree. Conradi-Hunermann Syndrome (Chondrodysplasia Punctata) also involves bone modification of the upper leg bone (femoral) but is more serious and encompassing than Fairbank Disease. Present at birth, Conradi-Hunermann Syndrome is marked by low birth weight, progressive shortening of arms or legs, short stature, scoliosis (which may develop as a patient approaches puberty), leg or hip joint contractions, and skin lesions or eruptions similar to acne. Mild forms of this disorder usually occur in girls, but do not cause growth restrictions. (For more information on this disorder, choose "Conradi" as your search term in the Rare Disease Database.) McCune-Albright Syndrome (Fibrous Dysplasia) is characterized by an early onset (precocious) sexual development, a change in bone integrity which produces pain, increasing disability, and a change in skin pigmentation. This syndrome affects the endocrine and musculoskeletal systems. The exact cause of this disorder is unknown at this time. (For more information on this disorder, choose "McCune-Albright" as your search term in the Rare Disease Database). Therapies: Standard Surgery of the hip may be indicated as treatment of Fairbank Disease to alleviate restriction of movement caused by modification of bone structure. Genetic counseling can be useful in families of patients with this disorder. Physical therapy can also be of benefit. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fairbank Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Rd. Towson, MD 21204 (301) 337-1250 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1 BS England 01 678 2984 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1274 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MULTIPLE EPIPHYSEAL DYSPLASIA: A FAMILY STUDY: T. Gibson, et. al.; Rheumatol Rehabil (Nov. 1979, issue 18(4)). Pp. 239-242. THE EPIPHYSEAL DYSPLASIAS: J. Spranger; Clin Orthop (Jan.-Feb. 1976, issue 114). Pp.46-59. Fairbank Disease_ pagetitle 359: Fairbank Disease 03733.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 535: Farber's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Farber's Disease) is not the name you expected. Please check the synonym list to find the alternate names and disorder subdivisions covered by this article. Synonyms Farber's Lipogranulomatosis Acid Ceramidase Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Juvenile Rheumatoid Arthritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Farber's Disease is a rare metabolic genetic disorder. Major symptoms may include hoarseness, painful and swollen joints, nodules under the skin and growths in the lungs and other parts of the body. The heart and lymph nodes may also be involved. Difficulty in breathing may necessitate the implantation of a breathing tube (tracheostomy) in the throat. Symptoms Farber's Disease may be easily diagnosed. Symptoms usually appear between the ages of two weeks to four months. The first signs of Farber's Disease are swollen joints and a hoarse cry, skin that is sensitive to touch and fingers that are flexed. Difficulty in swallowing, vomiting, breathing problems and fever may also occur. Other signs of the disease may be heart problems due to the growth of nodules around heart valves. Nodules are often found in the spleen, intestines, lymph nodes, kidney, tongue, thymus, gallbladder and liver. The central nervous system is usually involved. Intelligence may or may not be normal. Causes Farber's Disease is characterized by the body's inability to produce lysosomal acid ceramidase which can cause painful and progressive deformity of joints. It is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Farber's Disease affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Farber's Disease. Comparisons may be useful for a differential diagnosis: Juvenile Rheumatoid Arthritis, also known as Still's disease, is an autoimmune disorder causing painful swelling of the joints and bone deformities. Polyarticular (affecting many joints) joint disease associated with enlargement of lymph nodes and the spleen. This disorder occurs in infants and young children, usually before puberty. It is characterized by acute pain affecting many joints, high fever, skin rash, subcutaneous nodules, enlargement of the liver, fluid in the lungs and stunted growth. Therapies: Standard Treatment for Farber's Disease is symptomatic and supportive. Corticosteroid drugs may provide some relief for joint pain. Tracheostomy may be necessary if breathing passages become blocked due to nodular growths. Cosmetic surgery may be useful for removal of growths in the facial area. Genetic counseling will be of benefit for patients and their families. Prenatal diagnosis of Farber's Disease is possible during the fifteenth to sixteenth weeks of pregnancy through the use of amniocentesis (testing of cells taken from the fluid in the water sac surrounding the fetus). Therapies: Investigational Research is ongoing into the metabolic defect which may cause symptoms of Farber's Disease. When this becomes better understood, scientists may be able to develop effective treatments. This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Farber's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Arthritis Foundation 1314 Spring St. N.W. Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 820-829. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2073. FARBER'S DISEASE (LYSOSOMAL ACID CERAMIDASE DEFICIENCY): R.A. Jameson, et al. Ann Rheum Dis (July 1987, issue: 46 (7). Pp., 559-561. DIAGNOSIS OF LIPOGRANULOMATOSIS (FARBER'S DISEASE) BY USE OF CULTURED FIBROBLASTS: J.T. Dulaney, et al.; J Pediatr (July, 1976 issue: 89 (1)). Pp. 59-61. Farber's Disease pagetitle 535: Farber's Disease 03734.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 368: Fascioliasis _________________________ ** IMPORTANT ** It is possible the main title of the article (Fascioliasis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Disorder Subdivisions Halzoun Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Halzoun Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fascioliasis is a rare infectious disorder caused by parasites. These parasites are liver flukes that live in plant-eating animals. Liver flukes can be found on water plants in certain parts of the world. When the parasite invades the liver, bile passages may be blocked. A subdivision of Fascioliasis called Halzoun Syndrome affects the throat (pharynx). This infection can usually be controlled and/or cured with timely treatment. Symptoms Initial symptoms of Fascioliasis may include fever and stomach or joint pain. Diarrhea, itching, general ill health, malnutrition, jaundice, spleen enlargement, swelling of the face, breathing disturbances and dry skin can also occur. Prompt treatment is necessary to prevent damage to the liver in people affected by this disorder. When the parasites invade the liver they can block bile passages. This may cause jaundice and eventually death. Causes Fascioliasis is caused by eating encapsulated parasitic liver flukes known as "Fasciola Hepatica" and "Fasciola Gigantica". These parasites live on water plants that are eaten by man, or eaten by animals that are subsequently eaten by man. Generally the parasite can be killed by adequate cooking. Affected Population Fascioliasis is rare in the United States, but sometimes occurs in southern and western areas of the nation where goats and sheep are raised. The parasites can be passed to man through goat or sheep meat that is inadequately cooked. This disorder tends to be more prevalent in the Orient and the tropics. Related Disorders Other infectious disorders caused by parasites may be due to round worms, tape worms, protozoan organisms, flukes and other bacteria. Halzoun Syndrome is a variant of Fascioliasis. This disorder affects the throat. It is caused by eating "Fasciola Hepatica", "Fasciola Gigantica" or other parasites known as "Linguatulid" larvae. Therapies: Standard Prompt treatment of Fascioliasis is necessary to prevent liver complications caused by this disorder. Treatment with emetine and chloroquine may be of benefit. Inspection programs of animals in high risk areas can do much to control the spread of this infection. Most importantly, all meats should be well cooked before they are eaten by man. Therapies: Investigational Treatment of Fascioliasis with the experimental drug Bithionol has been initiated by the Centers for Disease Control (CDC). Although this drug is available for experimental use through the CDC, long-term effectiveness and possible side effects have not yet been determined. Clinical testing of the drug Niclofolan, a biphenyl anthelmintic compound, is being conducted in West Germany as a treatment for Fascioliasis. Further testing is needed to determine effectiveness and possible side effects of this drug. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fascioliasis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Liver Foundation 998 Pompton Avenue Cedar Grove, NJ 07009 (201) 857-2626 (800) 223-0179 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 Children's Liver Foundation 14245 Ventura Blvd. Sherman Oaks, CA 91423 (818) 906-3021 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References TREATMENT OF HUMAN FASCIOLIASIS WITH NICLOFOLAN: T. Eckhardt, et. al.; Gastroenterology (Oct. 1981, issue 81(4)). Pp. 795-798. Fascioliasis pagetitle 368: Fascioliasis 03735.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 342: Felty Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Felty Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Splenomegaly with Rheumatoid Arthritis Information on the following disorders can be found in the Related Disorders section of this report: Rheumatoid Arthritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Felty Syndrome is a rare form of Rheumatoid Arthritis which affects the skin and spleen as well as the joints. White blood cell abnormalities can lead to associated infections. Symptoms may improve with removal of the spleen (splenectomy). Felty Syndrome seems to occur mostly in middle-aged women. Symptoms Symptoms of Felty Syndrome include a decrease in the white blood cells which are linked to frequent infections; blood platelet reduction; joint stiffness and/or aching (similar to Rheumatoid Arthritis); enlargement of the spleen; and a yellowish-brown discoloration of the skin. Exposed areas of the skin may also have symptoms resembling those of Pellagra (rough, scaly, reddish-brown and stinging sensations). Cell death in soft tissue of the mouth (Ulceronecrotic Stomatitis), anemia, leg ulcers, possible swelling of lymph nodes and fever may also occur with Felty Syndrome. Causes The exact cause of Felty Syndrome is not clear at this time. Scientists believe that the blood cell abnormalities, an allergy, or some unknown immunity disturbance may lead to the frequent infections which are common with this disorder. Affected Population Felty Syndrome seems to occur mostly in middle-aged women, although it has been reported in adolescents as well. Related Disorders Rheumatoid Arthritis is a prevalent disorder that usually occurs in middle-aged and older people, mostly women. In rare instances Rheumatoid Arthritis can affect children. Pain, stiffness and deformities of joints are the main symptoms of Rheumatoid Arthritis. The hands, knees, feet, jaw, and the spine are the areas most commonly affected. (For more information on this disorder, see the Arthritis section of the Prevalent Health Conditions/Concerns area of NORD Services.) Although the exact cause of Rheumatoid Arthritis is not known, it is suspected to be an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses against invading organisms (antibodies), for unknown reasons, suddenly begin to attack healthy tissue. Therapies: Standard The most common treatment for serious and recurrent infections which are caused by Felty Syndrome is removal of the spleen (splenectomy). This treatment is successful in about fifty percent of cases. Other treatments are those used for Rheumatoid Arthritis such as anti-inflammatory drugs, gold salts or penicillamine. Anemia associated with Felty Syndrome can be treated with blood transfusions. The prognosis is generally uncertain and depends upon several variables including the general health of the patient and the combination of symptoms occurring in a patient. Therapies: Investigational Low dose oral prednisone therapy has been used experimentally to treat Felty Syndrome. Preliminary studies appear positive, but more research is needed. This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Felty Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Arthritis Foundation 1314 Spring Street NW Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References FELTY'S SYNDROME IN A CHILD: A.M. Rosenberg, et. al.; J Rheumatol (December 1984, issue 11(6) ). Pp. 835-837. Felty Syndrome pagetitle 342: Felty Syndrome 03736.TXT !Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 341: Fetal Alcohol Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Fetal Alcohol Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Alcoholic Embryopathy Alcohol-related Birth Defects FAS General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fetal Alcohol Syndrome (FAS) is a serious combination of birth defects involving both physical and mental impairments. Extensive scientific research into the effects of alcohol (ethanol) on a fetus has established that use of alcohol during pregnancy poses a serious threat to the health of the unborn child. Fetal Alcohol Syndrome is totally preventable if an expectant mother does not drink alcohol. Symptoms When a pregnant woman drinks alcoholic beverages during pregnancy, or is an alcoholic, a pattern of defects in the fetus may occur at different stages of pregnancy. At birth, babies with Fetal Alcohol Syndrome (FAS) are unusually small. Length of the baby will be more severely affected than the birth weight. A small head circumference (microcephaly) with mental retardation may be present. A failure to thrive will be noticed with unusually slow postnatal growth. A delay may occur in intellectual development along with impairment of fine and gross motor coordination. Other observable symptoms may include short folds in the eyelids (palpebral fissures), incomplete development of the upper jaw (maxillary hypoplasia), joint anomalies, unusual creases on the palms, possible vertical folds of skin on either side of the nose (epicanthal folds), an opening in the roof of the mouth (cleft palate), heart problems and genital defects. Facial characteristics of babies with Fetal Alcohol Syndrome may include a protruding forehead, sunken nasal bridge, short upturned nose, retracted upper lip, receding chin, and/or deformed ears. Babies with FAS often suffer alcohol addiction withdrawal symptoms within twenty-four hours after birth. These may include tremors and/or convulsions, irritability, increased muscle tone, a form of whole body spasm in which the head and the heels are bent backward and the body bowed forward (opisthotonus), increased respiratory rate, abdominal distention, and/or vomiting. Causes In general, babies with FAS can be affected by some or all of these symptoms. The cause and severity of FAS can often be associated with the amount of alcohol consumption during pregnancy. A woman who drinks a lot of alcohol during pregnancy may have a more severely affected child than a woman who drinks smaller amounts of alcohol. Affected Population Researchers have estimated that Fetal Alcohol Syndrome (FAS) affects between one and two babies in every 1,000 live births in American families. Between three and five children per 1,000 are partially affected because they have some (not all) of the symptoms of FAS. The Public Health Service is committed to a 25% reduction in the incidence of Fetal Alcohol Syndrome in the United States by 1990. Although 90% of the public is apparently aware of the dangers of alcohol during pregnancy, the prevalence of FAS in newborn babies is dropping only very slowly. Related Disorders There are many other alcohol and substance abuse related birth defects under study. The association of FAS with upper respiratory abnormalities has not yet been established, but is suspected to play a role in some serious childhood conditions including obstructive breath stoppage (apnea), Sudden Infant Death Syndrome (SIDS), and lung hypertension. (For more information on these disorders, choose "apnea" and "SIDS" as your search terms in the Rare Disease Database). Many types of substance addictions can be passed from a mother to fetus causing withdrawal symptoms in babies shortly after birth. These withdrawal symptoms can be medically treated, but can also result in other serious long term health problems. Therapies: Standard The best treatment for Fetal Alcohol Syndrome (FAS) is prevention through avoiding the use of alcohol during pregnancy. Total abstinence is recommended for pregnant women during the entire nine months since a safe level of alcohol consumption has not been established. Treatment is generally symptomatic and supportive. There is no evidence that growth of babies affected by FAS can be accelerated by optimum nutritional therapy. Agencies which deal with alcohol addiction and those which provide services to mentally retarded individuals and their families can be helpful and supportive. Special education and related services can enable children with FAS to reach their potential. Therapies: Investigational Research is now underway to carefully study the effects of alcohol on fetuses by the Public Health Service, National Institutes of Health and various other organizations. In order to reduce the incidence of Fetal Alcohol Syndrome (FAS), scientists are trying to develop methods to identify and treat pregnant women with alcohol problems, as well as those who are at risk. Major efforts are under way to gather scientific evidence to determine the stages of pregnancy when alcohol-related birth defects are most likely to occur, and to educate the public and health care providers about the effects of alcohol on unborn children. While some scientists are trying to develop effective ways to detect alcohol abuse and to treat alcohol dependence in pregnant women, others are seeking ways to prevent FAS and other alcohol-related birth defects. This disease entry is based upon medical information available through January 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fetal Alcohol Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Fetal Alcohol Education Program Boston University School of Medicine 7 Kent Street Brookline, MA 02146 (617) 232-7557, (617) 739-1424 U.S. Dept. of Health and Human Services Public Health Service Alcohol, Drug Abuse, and Mental Health Administration National Institute on Alcohol Abuse and Alcoholism 5600 Fishers Lane Rockville, MD 20857 National Clearinghouse for Alcohol Information P.O. Box 2345 Rockville, MD 20852 (301) 468-2600 Alcoholics Anonymous (See the local phone book in your community). National Mental Health Association 1021 Prince St. Alexandria, VA 22314 (703) 684-7722 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) International Tremor Foundation 360 W. Superior St. Chicago, IL 60610 (312) 664-2344 References ALCOHOL RESEARCH: MEETING THE CHALLENGE. NIAAA, National Clearinghouse for Alcohol Information (NCALI) For sale by the Superintendent of Documents, U.S. Government Printing Office, Washington, D.C. 20402. P. 11. ALCOHOLIC MOTHERS AND THEIR OFFSPRING: A.N. Mokhovikov, et. al., ZH Nevropatol Psikhiatr (1986, issue 86(2) ). Pg. 223-229 (Published in Russian). UPPER AIRWAY OBSTRUCTION IN INFANTS WITH FETAL ALCOHOL SYNDROME: A.G. Usowicz, et. al.; Am J Dis Child (Oct. 1986 issue 140(10) ). Pg. 1039-1041. Fetal Alcohol Syndrome%" ("pagetitle 341: Fetal Alcohol Syndrome 03737.TXT Copyright (C) 1993 National Organization for Rare Disorders, Inc. 948: Fetal Hydantoin Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fetal Hydantoin Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Dilantin, Fetal Effects Of Fetal Dilantin Syndrome Fetal Hydantoin Effects Hydantoin Anticonvulsants, Fetal Effects Of Mephenytoin, Fetal Effects Of Mesantoin, Fetal Effects Of Phenytoin, Fetal Effects Of Information on the following diseases can be found in the Related Disorders section of this report: Aarskog Syndrome Noonan Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fetal Hydantoin Syndrome is a rare disorder that is caused by exposure of a fetus to phenytoin (Dilantin) which is an anticonvulsant drug prescribed for epilepsy. Major symptoms of this disorder may include abnormalities of the skull and facial features, growth deficiencies, underdeveloped nails of the fingers and toes, and/or developmental delays. Symptoms Fetal Hydantoin Syndrome is typically characterized by altered growth, unusual facial features, underdeveloped fingers and toes, and mental deficiencies. The most consistent facial features found in affected infants have been a flat bridge of the nose, and eyes that are down-slanted, widely spaced, and crossed (strabismus). An underdeveloped vertical groove in the center of the upper lip (philtrum), cleft lip and/or palate, drooping eyelids (ptosis), and mild webbing of the neck have also been reported. Growth deficiencies may include underdeveloped fingers and toes, malformed nails as well as finger-like thumbs. It has been estimated that approximately thirty percent of affected children with this syndrome have mild to moderate mental retardation which may be associated with an abnormally small brain (microencephaly). Causes Fetal Hydantoin Syndrome is a rare disorder that is caused by exposure of a fetus to phenytoin (Dilantin) which is an anticonvulsant drugs prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. There have been documented cases in which affected and unaffected siblings have been exposed to the same amount of this drug. Some scientists believe that enzyme differences may determine which sibling will be affected with the disorder. Affected Population Fetal Hydantoin Syndrome is a rare disorder that affects males and females in equal numbers. Approximately eleven percent of infants exposed to hydantoin in the womb are affected with the disorder. Related Disorders Symptoms of the following disorders can be similar to those of Fetal Hydantoin Syndrome. Comparisons may be useful for a differential diagnosis: Aarskog Syndrome is thought to be inherited as a a sex-linked dominant trait. Males with Fetal Hydantoin Syndrome may have symptoms similar to those of Aarskog Syndrome. Infants affected with Aarskog Syndrome may have widely spaced eyes (hypertelorism) with drooping eyelids (ptosis), and a short broad nasal bridge. Short broad fingers and toes as well as stunted growth, genital abnormalities and mild mental retardation may also be present. (For more information on this disorder, choose "Aarskog Syndrome" as your search term in the Rare Disease Database). Noonan Syndrome is a rare disorder that may be inherited as an autosomal dominant or autosomal recessive genetic trait. Symptoms of this disorder may also be similar to those of infants affected with Fetal Hydantoin Syndrome. This disorder is mainly characterized by a lack of sexual development, short stature, possible mental retardation, a webbed neck, widely spaced eyes with drooping eyelids, and/or skeletal abnormalities. (For more information on this disorder, choose "Noonan Syndrome" as your search term in the Rare Disease Database). Therapies: Standard It has been suggested that mothers receiving phenytoin (Dilantin) who have given birth to an infant affected with Fetal Hydantoin Syndrome be given a different anticonvulsant drug during future pregnancies. Some physicians change a woman's epilepsy drug during pregnancy from phenytoin to other anticonvulsants in order to avoid the possibility of this syndrome in a fetus. However, the effect of other seizure medications on a fetus are not always well understood. When cleft lip and/or palate are present the coordinated efforts of a team of specialists such as pediatricians, dental specialists, surgeons, speech pathologists, and psychologists may be used to plan the child's treatment and rehabilitation. Cleft lip may be surgically corrected. Generally surgeons repair the lip when the child is still an infant. A second surgery is sometimes necessary for cosmetic purposes when the child is older. Cleft palate may be repaired by surgery or covered by an artificial device (prosthesis) that closes or blocks the opening. Surgical repair can be carried out in stages or in a single operation, according to the nature and severity of the defect. The first palate surgery is usually scheduled during the toddler period. Special education and related services will be of benefit to children with learning delays. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fetal Hydantoin Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health & Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For children with clefts a group of specialists called a Cleft Palate Team may be of benefit. For information on local teams contact: American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. P. 495. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1992. Pp. 714-15. FETAL HYDANTOIN SYNDROME IN TRIPLETS. A UNIQUE EXPERIMENT OF NATURE: S.A. Bustamante, et al.; Am J Dis Child (October, 1978, issue 132(10)). Pp. 978-9. RISKS TO THE OFFSPRING OF WOMEN TREATED WITH HYDANTOIN ANTICONVULSANTS, WITH EMPHASIS ON THE FETAL HYDANTOIN SYNDROME: J.W. Hanson, et al.; J Pediatr (October, 1976, issue 89(4)). Pp. 662-8. PRENATAL PREDICTION OF RISK OF THE FETAL HYDANTOIN SYNDROME: B.A. Buehler, et al.; N Engl J Med (may, 1990, issue 322(22)). Pp. 1567-72. Fetal Hydantoin SyndromeG J pagetitle 948: Fetal Hydantoin Syndrome 03738.TXT 'Copyright (C) 1991 National Organization for Rare Disorders, Inc. 827: FG Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (FG Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Opitz-Kaveggia Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Townes-Brocks Syndrome VACTERL Association REAR Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. FG Syndrome is an uncommon hereditary disorder which affects males. The presence and severity of symptoms vary from patient to patient. Some females may have certain physical characteristics related to FG Syndrome because they are "carriers" of the trait, but they are not affected by the disorder itself. Males with FG Syndrome may have mental retardation, an absence of an anal opening (imperforate anus) or an abnormally placed anus, constipation, diminished muscle tone (hypotonia), a large head and certain other physical characteristics. Deafness may be present in some patients. Individuals with FG Syndrome seem to have a specific personality type and are often friendly, outgoing, and hyperactive with a short attention span. Symptoms MALES WITH FG SYNDROME: The presence and severity of symptoms in males with FG Syndrome vary from patient to patient and may include mental retardation, heart defects, delayed muscle system (motor) development, diminished muscle tone (hypotonia), seizures, abnormally large brain (megalencephaly), eyelid abnormalities (short palpebral fissures), constipation, muscle contraction of the joints (multiple joint contractures), webbing of two or more fingers or toes (syndactyly), vertebral defects of the spine, a dimple in the area right above the tailbone (sacral dimple), or undescended testicles (cryptorchidism). The "soft spot" (anterior fontanel) of the baby's skull may be larger than usual. In some patients, there is an absence of an anal opening (imperforate anus). In others, abnormal placement of the anus may occur. The anus may be constricted or smaller than normal (anal stenosis). There may be an abnormal opening located on the underside of the penis (hypospadias). Deafness (sensorineural) is present in some patients and may be severe. Individuals with FG Syndrome are often friendly, and outgoing. They are also hyperactive with a short attention span. They may be easily frustrated and prone to temper tantrums. Physical characteristics can include a disproportionately large head (for height), prominent forehead, cowlick (frontal hair upsweep), unusually wide-set eyes (hypertelorism), a skin fold over the inner corner of the eye (epicanthal folds), prominent lower lip, and small ears. The cornea (of the eye) may appear to be larger than normal. The roof of the mouth (palate) may be narrow, or may have a cleft. Wrinkling of the facial skin is sometimes present. In some individuals, the upper lip is longer than average. Thumbs and big toes are usually broad. Individuals with FG Syndrome often have short stature. Occasionally, skull abnormalities occur such as premature fusion of the unjoined bones of a baby's skull (craniosynostosis), or an accumulation of fluid in the brain (hydrocephalus), or absence of part of the brain known as the corpus callosum. (For more information, choose "hydrocephalus", or "corpus callosum" as your search terms in the Rare Disease Database). Rarely, intestinal abnormalities, heart defects or dilation of the urinary tract may occur. FEMALE "CARRIERS" OF THE FG SYNDROME TRAIT: FG Syndrome is an X-linked trait which is passed from mother to son (see "Causes" section). To date mothers of males with FG Syndrome have shown normal intelligence. Some may have the following physical characteristics: a broad forehead, cowlick, excess skin over the inner corners of the eyes (epicanthal folds), unusually wide-set eyes (hypertelorism), or abnormal placement of the anus. In some females, the upper lip is longer than average. Causes FG Syndrome is inherited as an X-linked recessive trait. Human traits, including the classic hereditary diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population FG Syndrome is an uncommon disorder present at birth which affects males. Some females may have certain physical characteristics related to FG Syndrome because they are "carriers" of the trait but they are not affected by the disorder itself. Related Disorders Symptoms of the following disorders can be similar to those of FG Syndrome. Comparisons may be useful for a differential diagnosis: Townes-Brocks Syndrome is a rare genetic disorder present at birth. Characteristics of the disorder and the severity of these symptoms vary from person to person. Major characteristics may include an absence of an anal opening in association with hand, foot and ear abnormalities. Hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers (sensorineural hearing loss or deafness) is present in some patients. (For more information on this disorder, choose "Townes-Brocks" as your search term in the Rare Disease Database). VACTERL Association is an acronym for (V)ertebral anomalies, (A)nal atresia (absence of a normal anal opening), congenital (C)ardiac disease, (T)racheo(E)sophageal fistula (abnormal openings or passages between the windpipe and/or upper digestive tract), (R)enal anomalies, radial defects, and other (L)imb defects. These abnormalities are present at birth. Symptoms occur in various combinations and can be manifestations of several recognized disorders. (For more information on this disorder, choose "VACTERL" as your search term in the Rare Disease Database). REAR Syndrome is an acronym for (R)enal anomalies, deformed external (E)ars and perceptive deafness, (A)nal stenosis, and (R)adial dysplasia. Underdeveloped kidneys are the most common renal abnormalities. The external ears are abnormally developed and deafness is present at birth. The anus is constricted or smaller than normal and other anal abnormalities can also occur. Abnormal development of the bone in the forearm (radius) or upper arm also occurs. Therapies: Standard Surgery to correct malformations may help individuals with FG Syndrome. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Special education services should be helpful for children with this disorder. Therapies: Investigational Scientists are trying to locate the gene on the X chromosome that causes FG Syndrome. When the gene is identified, a prenatal diagnostic and carrier test may be developed for FG Syndrome. This disease entry is based upon medical information available through January 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on FG Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 FG Syndrome Support Group 66 Ford Road Dagenham, Essex, RM10 9JR England NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Dr. John Opitz Shodair Children's Hospital P.O. Box 5539 Helena, MT 59604 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 1592. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth Lyons Jones, M.D.; W.B. Saunders Co., 1988. Pp. 240-241. FG SYNDROME UPDATE 1988: NOTE OF 5 NEW PATIENTS AND BIBLIOGRAPHY. J. M. Opitz, et al.; Am J Med Genet (May-Jun 1988; issue 30 (1-2)). Pp. 309-328. SENSORINEURAL DEAFNESS IN THE FG SYNDROME: REPORT ON FOUR NEW CASES. G. Neri, et al.; Am J Med Genet (Oct 1984; issue 19 (2)). Pp. 369-377. THE FG SYNDROME: FURTHER CHARACTERIZATION, REPORT OF A THIRD FAMILY, AND OF A SPORADIC CASE. V. M. Riccardi, et al.; Am J Med Genet (1977; issue 1 (1)). Pp. 47-58. THE FG SYNDROME: 7 NEW CASES. E. M. Thompson, et al.; Clin Genet (Jun 1985; issue 27 (6)). Pp. 582-594.G( FG Syndrome (pagetitle 827: FG Syndrome 03739.TXT $Copyright (C) 1989 National Organization for Rare Disorders, Inc. 713: Fiber Type Disproportion, Congenital _________________________ ** IMPORTANT ** It is possible that the main title of the article (Congenital Fiber Type Disproportion) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms CFTD Myopathy of Congenital Fiber Type Disproportion Atrophy of Type I Fibers Myopathy, Congenital, With Fiber-Type Disproportion Information on the following diseases can be found in the Related Disorders section of this report: Batten-Turner Congenital Myopathy Becker Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy Duchenne Muscular Dystrophy Myotonic Dystrophy Leyden-Moebius Muscular Dystrophy Gower's Muscular Dystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Fiber Type Disproportion (CFTD) is a rare genetic muscle disease that is apparent at birth. Major symptoms may include loss of muscle tone (hypotonia) and weakness, scoliosis, a drawing up of the muscles, high arched palate, dislocated hips, short stature, and deformities of the feet. Symptoms Congenital Fiber Type Disproportion (CFTD) is characterized by muscle weakness which is usually noticeable at birth. Other features may be nonprogressive loss of muscle tone, curvature of the spine (scoliosis), dislocation of the hip bones and foot deformities. Some patients with CFTD may also have involuntary movements, mental retardation, growth failure, bulging of the forehead, and abnormal hair. Sometimes only one feature of the disorder is present, and in other cases many symptoms may occur. The only way to obtain a definite diagnosis of CFTD is by muscle biopsy which shows a difference in the size of Type I and Type II muscle fibers: Type I fibers are unusually small and wasted away (atrophied). Symptoms of this disorder usually improve as the person gets older. Causes Human Traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. CFTD is inherited as an autosomal recessive trait. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Congenital Fiber Type Disproportion affects males and females in equal numbers. The disorder is usually present at birth but may improve with advancing age. Related Disorders Symptoms of the following neuromuscular disorders can be similar to those of Congenital Fiber Type Disproportion. Comparisons may be useful for a differential diagnosis: Batten Turner Muscular Dystrophy first appears as muscle floppiness during infancy. This is followed by frequent falling and stumbling which is associated with mild muscular weakness and generalized loss of muscle tone (hypotonia). There may be a slight delay on reaching milestones or early motor development. In particular the pelvic girdle, neck and shoulder girdle may be affected. Although walking usually becomes normal later in life, there may be a residual handicap in the performance of physical activities during adulthood. (For more information on this disorder, choose "Batten-Turner" as your search term in the Rare Disease Database). Becker Muscular Dystrophy (BMD) is characterized by slowly progressive weakness of the hip and shoulder muscles. These muscles tend to be firm and rubbery. Deep tendon reflexes may be lost early in the course of this disorder. Ability to walk is affected, and mild mental retardation may be present. Joint contractures, curvature of the spine (scoliosis), restrictive lung disease, and in rare cases heart problems, can develop with time. (For more information on this disorder, choose "Becker" as your search term in the Rare Disease Database). Emery-Dreifuss Muscular Dystrophy is usually first noticed in early childhood, around the age of four or five, with the onset of slowly progressive muscle weakness in the legs causing the child to walk on the toes. Shoulder muscles eventually show a marked weakness and walking takes on a characteristic waddle. Later the neck may be involved and the spine may become rigid. Heart problems are a very prominent feature and may result in serious complications. (For more information on this disorder, choose "Emery-Dreifuss" as your search term in the Rare Disease Database). Duchenne Muscular Dystrophy starts in infancy, but visible symptoms of weakness generally do not appear before the age of two or three. Neck muscles and the large muscles of the legs and the lower trunk are the first to be affected. Over a period of several years, muscle wasting progresses to the upper trunk and the arms, eventually involving all the major muscle groups. (For more information on this disorder, choose "Duchenne" as your search term in the Rare Disease Database). Myotonic Dystrophy is an inherited disorder involving the muscles, vision, and endocrine glands. It may also cause mental deficiency and loss of hair. It usually begins during young adulthood and is marked initially by an inability to relax muscles after contraction. Loss of muscle strength, mental deficiency, cataracts, reduction of testicular function, and frontal baldness are also symptomatic of this disorder. Tripping, falling, difficulty in moving the neck, lack of facial expression and a nasal sounding voice are among many symptoms that can result from selective muscle involvement. (For more information on this disorder, choose "Myotonic" as your search term in the Rare Disease Database). Leyden-Moebius Muscular Dystrophy (Limb-Girdle Muscular Dystrophy) is a progressive disorder that usually begins during pre-adolescence. The pelvic area is the most severely affected with weakness and muscular deterioration. Muscles of the face, shoulders and arms are also affected. This disorder is inherited by a different mode of transmission than that of Becker Muscular Dystrophy. Gower's Muscular Dystrophy is a rare, slowly progressive weakness that begins in the hands and feet, then extends to other nearby areas of the body causing only moderate weakness. This disorder usually begins during adulthood. Therapies: Standard Treatment of Congenital Fiber Type Disproportion may consist of active and passive type exercises and physical therapy. Functional improvement usually occurs as the patient matures. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Fiber Type Disproportion, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Association, National Office 3561 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1094. CLINICAL VARIABILITY IN CONGENITAL FIBER TYPE DISPROPORTION. R.R. Clancy, et al.; J Neurol Sci (June, 1980, issue 46 (3)). Pp. 257-266. CONGENITAL FIBER DISPROPORTION; ATROPHY OF TYPE I FIBERS. REPORT OF 11 CASES. J.A. Levy, et al.; Arq Neuropsiquiatr (June, 1987, issue 45 (2)). Pp. 153-158. MUSCLE FIBER TYPE TRANSFORMATION IN NEMALINE MYOPATHY AND CONGENITAL FIBER TYPE DISPROPORTION. T. Miike, et al.; Brain Dev (1986, issue 8 (5)). Pp. 526-632. Fiber Type Disproportion, Congenital %pagetitle 713: Fiber Type Disproportion, Congenital 03740.TXT Copyright (C) 1986, 1988 National Organization for Rare Disorders, Inc. 219: Fibroelastosis, Endocardial _________________________ ** IMPORTANT ** It is possible the main title of the article (Endocardial Fibroelastosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms EFE Fetal Endocarditis EMF Endocardial Sclerosis Fetal Endomyocardial Fibrosis Subendocardial Sclerosis Endocardial Dysplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Endocardial Fibroelastosis is a heart disorder affecting infants which is characterized by a thickened endocardium (lining of the heart cavities) that shows proliferation of elastic tissue. The cause is unknown at the present time. Symptoms Endocardial Fibroelastosis is a common form of heart diseases in infancy and early childhood with onset generally between 4 and 12 months of age. Elastic tissue proliferates in the tissue under the endocardium (the subendocardium), causing a diffuse, milky-white thickening of the endocardium and the subendocardium. Ventricular failure due to altered distensibility of the ventriculum sometimes develops. Electrocardiogram (ECG) evidence of enlargement of the left ventricle of the heart in an infant suggests a diagnosis of Endocardial Fibroelastosis. Increased size of heart muscle fibers may accompany this disorder. The earliest signs of heart muscle (myocardial) damage are subtle S-T segment and T-wave changes on the electrocardiogram. Serial ECGs reveal progression or regression of the disorder. As the cardiomyopathy worsens, the patient develops fatigue, difficulty breathing (dyspnea), palpitations, and discomfort over the heart in the lower chest region. Ventricular failure with a fast heart beat (tachycardia) and atrial and ventricular arrhythmias may also be encountered. Causes The cause of Endocardial Fibroelastosis is unknown. Affected Population Infants of both sexes between the ages of 4 months and 2 years are affected by Endocardial Fibroelastosis. A few adult cases have also been reported. Related Disorders Idiopathic Cardiomyopathy is characterized by an enlarged heart (hypertrophy). The cause is unknown. Viral Myocarditis is characterized by severe difficulty breathing (dyspnea), an enlarged heart, excessively fast heart rate (tachycardia), arrhythmias, and generalized swelling (edema). Therapies: Standard Response to treatment is most favorable when the damage is noted early. Absolute bed rest over a prolonged period of time may facilitate healing of the myocardial lesions while the myocardium is working at a reduced load. Further therapy of Endocardial Fibroelastosis is directed at control of arrhythmias and treatment of congestive heart failure. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Endocardial Fibroelastosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. P. 351.' Fibroelastosis, Endocardial der,o pagetitle 219: Fibroelastosis, Endocardial 03709.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 232: Endomyocardial Fibrosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Endomyocardial Fibrosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Davies' Disease EMF Loeffler's Disease Fibroelastic Endocarditis Loeffler Fibroplastic Parietal Endocarditis Loeffler Endomyocardial Fibrosis with Eosinophilia DISORDER SUBDIVISIONS Left Ventricular Fibrosis Right Ventricular Fibrosis Biventricular Fibrosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Endomyocardial Fibrosis is a heart disease of unknown origin in which the most characteristic feature is a gross fibrosis of the lining of the heart cavities (the endocardium) of one or both ventricles. Fibrosis progresses towards constriction of the ventricular cavities and involvement of the chordae tendinae and atrioventricular valves. Loeffler's disease is a disease of the heart and small arteries, of unknown origin, characterized by eosinophilia, gross fibrosis of the endocardium, small vessel arteritis and infiltration of other organs. Endomyocardial Fibrosis is thought to be a late stage of Loeffler's disease by some authorities. Symptoms The main microscopic feature of Endomyocardial Fibrosis (as well as of Loeffler's disease) is fibrosis of the inner lining of the heart cavities (the endocardium). This means that the normal endocardium is replaced by dense collagen tissue, almost devoid of elastic fibers. The fibrotic lesions may be over 1 cm thick and may extend finger-like projections into the heart muscle (the myocardium). Fibrosis frequently affects the heart asymmetrically. It may specifically involves one or more of the following areas: 1. the top of the left ventricle 2. the posterior wall of the left ventricle including the fibrous cords that connect the valves to the ventricles (the chordae tendinae) 3. the apex of the right ventricle, extending backwards along the inflow tract and encasing the papillary muscles and chordae tendinae of the tricuspid valve. Thrombosis (blood clot) often develops on the surface of the fibrotic lesions. Calcification also may occur. Different forms of fibrosis may be distinguished depending on the area of the heart predominantly involved. Left ventricular fibrosis is characterized by restriction of circulation to the right ventricle and often mitral valve incompetence. This results in mitral regurgitation, left atrial dilatation, pulmonary venous hypertension, left ventricular enlargement, and first degree arteriovenous block. Atrial fibrillation, an atrial arrhythmia, is common. Chest x-ray may reveal a normal or only mildly enlarged heart silhouette except for left atrial enlargement and signs of pulmonary venous hypertension. The electrocardiogram (ECG) shows a low QRS voltage, non-specific ST segment and T-wave changes. Right ventricular fibrosis is characterized by restriction of circulation to the right ventricle often associated with tricuspid valve incompetence. This results in tricuspid regurgitation, right atrial dilatation and systemic venous hypertension. Symptoms include the clinical signs of tricuspid regurgitation associated with those of constrictive pericarditis such as stasis in the jugular veins with facial swelling (edema), enlarged spleen and liver (hepatosplenomegaly), and an accumulation of fluid in the abdominal cavity (ascites). Similar changes in the ECG as occur in left ventricular fibrosis are seen. On chest X-rays, right atrial enlargement will usually be seen. Biventricular fibrosis with circulation features are a mixture of the two forms listed above. That is, the symptoms are a combination of left and right ventricular fibrosis. The extracardiac manifestations of Loeffler's disease include emboli to the brain (stroke), spotty (petechial) hemorrhages, and an enlarged liver (hepatomegaly). Causes The cause of Endomyocardial Fibrosis is unknown. Both the presence of the filaria worm and diet have been incriminated in the past. An immunological mechanism is currently the most accepted explanation for most cases of Endomyocardial Fibrosis and Loeffler's disease. Affected Population Endomyocardial Fibrosis is principally an endemic disease of the equatorial tropics. It is exceedingly rare in Europe and North America. It affects all races, mostly children and young adults, although the disease has been described in patients over 60 years of age. Therapies: Standard The treatment of Endomyocardial Fibrosis is open heart surgery with a three-pronged attack: 1. endomyocardiectomy to allow normal diastolic ventricular filling 2. repair or replacement of the mitral or tricuspid valve (or both), to ensure valvular competence 3. leaving in place a portion of fibrous endocardium on the left ventricular septum to prevent postoperative heart block. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Endomyocardial Fibrosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Avenue Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 361-2. Endomyocardial Fibrosis pagetitle 232: Endomyocardial Fibrosis 03710.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 607: Engelmann Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Engelmann Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Progressive Diaphyseal Dysplasia PDD Camurati-Engelmann Osteopathia Hyperostotica Multiplex Infantilis Information on the following diseases can be found in the Related Disorders section of this report: Paget's Disease Emery-Dreifuss Muscular Dystrophy Duchenne Muscular Dystrophy Myotonic Muscular Dystrophy Becker Muscular Dystrophy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Engelmann Disease is a rare genetic bone disorder. Major symptoms include weakness of muscles, walking difficulties, pain in the bones, excessive fatigue and poor appetite leading to a malnourished appearance. Symptoms Engelmann Disease is characterized by severe bone pain, especially in the long bone of the leg (femur), and lack of normal muscular development. The bones at the base of the skull, the hands and feet, and rarely the jaw bone may be affected. Weakness in the leg muscles results in an unusual waddling walk. There may be an accompanying over-growth of the bones near the eye sockets which could result in loss of vision. Fatigue, headache, and poor appetite may also be present. Causes Engelmann Disease is inherited as an autosomal dominant trait. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child.) Affected Population Engelmann Disease is a rare disorder affecting males and females in equal numbers. Onset is usually during childhood. Related Disorders Symptoms of the following disorders can be similar to those of Engelmann Disease. Comparisons may be useful for a differential diagnosis: Paget's Disease is a slowly progressive disease of the skeletal system characterized by abnormally rapid bone breakdown and formation, leading to the development of bones that are dense but fragile. The major symptom is bone pain. It usually affects middle-aged and elderly people and most frequently occurs in the spine, skull, pelvis, thighs and lower legs. Most cases are asymptomatic or mild. Symptoms are often vague and may be hard to distinguish from those of many other bone diseases. Bowed bones and frequent fractures are caused by abnormally soft bones. Enlargement of the head, headaches, sensation of heat, deep dull pain in the bones and hearing loss may also occur. (For more information on this disorder, choose "Paget" as your search term in the Rare Disease Database). Emery-Dreifuss Muscular Dystrophy is a rare, often slowly progressive form of muscular dystrophy affecting the muscles of the arms, legs, face, neck, spine and heart. It is usually first noticed in early childhood, around the age of four or five, with the onset of slowly progressive muscle weakness in the legs causing the child to walk on the toes. Shoulder muscles eventually show a marked weakness and walking takes on a characteristic waddle. Later the neck may be involved and the spine may become rigid. Heart problems are a very prominent feature and may result in serious complications. (For more information on this disorder, choose "Emery-Dreifuss" as your search term in the Rare Disease Database). Duchenne Muscular Dystrophy is characterized by damage to muscle fibers. It starts in very early childhood or even before birth, but visible symptoms of weakness generally do not appear before the age of two or three. Neck muscles and the large muscles of the legs and the lower trunk are the first to be affected. Over a period of several years, muscle wasting progresses to the upper trunk and the arms, eventually involving all the major muscle groups. Usually around the age of eight or nine, the child is no longer able to stand or walk. Duchenne Muscular Dystrophy has an X-linked recessive pattern of inheritance affecting boys almost exclusively. (For more information on this disorder, choose "Duchenne" as your search term in the Rare Disease Database). Myotonic Dystrophy is an inherited disorder involving the muscles, vision, and endocrine glands. It may also produce mental deficiency and loss of hair. It usually begins during young adulthood and is marked initially by an inability to relax muscles after contraction. Loss of muscle strength, mental deficiency, cataracts, reduction of testicular function, and frontal baldness are also symptomatic of this disorder. Tripping, falling, difficulty in moving the neck, lack of facial expression and a nasal sounding voice are among many symptoms that can result from selective muscle involvement. (For more information on this disorder, choose "Myotonic Dystrophy" as your search term in the Rare Disease Database). Becker Muscular Dystrophy is a late onset, X-linked type of muscular atrophy. Usually developing in young men during their twenties or thirties, it has a slowly progressive, relatively mild course. (For more information on this disorder, choose "Becker" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Engelmann Disease usually involves the use of steroid drugs such as cortisone or prednisone to relieve the symptoms. Eye surgery to decompress the optic nerves is usually ineffective and is usually not recommended. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Engelmann Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/ National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 227. PROGRESSIVE DIAPHYSEAL DYSPLASIA: EVALUATION OF CORTICOSTEROID THERAPY. Y. Naveh, et al.; Pediatrics (February, 1985, issue 75 (2)). Pp. 321-323. CLINICAL AND SCINTIGRAPHIC EVALUATION OF CORTICOSTEROID TREATMENT IN A CASE OF PROGRESSIVE DIAPHYSEAL DYSPLASIA. L. A. Verbruggen, et al.; J Rheumatol (August, 1985, issue 12 (4)). Pp. 809-813. PROGRESSIVE DIAPHYSEAL DYSPLASIA (CAMURATI-ENGELMANN): RADIOGRAPHIC FOLLOW-UP AND CT FINDINGS, J. K. Kaftori, et al.; Radiology (September, 1987, issue 164 (3)). Pp. 777-782. Engelmann Disease ndro%! (!pagetitle 607: Engelmann Disease 03711.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 747: Enterobiasis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Enterobiasis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Oxyuriasis Pinworm Infection Seatworm Infection Information on the following diseases can be found in the Related Disorders section of this report: Roundworms (Ascariasis) Hookworms General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Enterobiasis or pinworm infection is the most common type of parasitic infection found in children. The infection is contracted by swallowing or inhaling the tiny eggs of the pinworm. Enterobiasis rarely causes any physical problems, except for the main symptom, severe rectal itching. Symptoms The major symptom of Enterobiasis is itching in the anal area. There may also be restlessness and difficulty sleeping. Secondary bacterial infections may develop in the areas that are constantly scratched, and there may be vaginal involvement in young girls. Very rarely, Enterobiasis may lead to appendicitis or inflammation of the fallopian tubes in females. Many children with Enterobiasis show no symptoms. In rare cases nausea, loss of appetite, vomiting, involuntary discharge of urine at night (enuresis) or stomach pain may occur. The disorder is usually first identified when live pinworms are noticed in the feces. Causes Enterobiasis is contracted by ingesting the eggs of pinworms which may be carried on fingernails, clothing, toys or bedding. The eggs may also be inhaled in dust. The infection may be transmitted to others by hand-to-mouth contact with contaminated food or objects. The female worm, residing in the large intestine, usually crawls out through the anus at night and deposits her eggs in the surrounding area. The sticky, gelatinous substance in which the eggs are deposited and the movements of the female worm usually cause intense rectal itching. The adult female worm dies after laying the eggs. However, the eggs may survive for as long as three weeks. As the child scratches the area, the tiny eggs become imbedded under the fingernails. These eggs may be swallowed, continuing the parasites' life-cycle. The parasites reach maturity in the large intestine within two to six weeks. Affected Population Enterobiasis is a common disorder affecting both sexes in equal numbers. It most frequently occurs in children during nursery school or kindergarten years. An entire classroom of children may be affected very quickly as the infection is spread from one child to the next. Related Disorders Symptoms of the following disorders can be similar to those of Enterobiasis. Comparisons may be useful for a differential diagnosis: Roundworms (Ascariasis) are found in tropical areas. Young children are most commonly affected. Roundworm eggs are passed to the soil through the feces and may remain in the soil for months or years. They are transmitted to humans by hand-to-mouth contact. Symptoms may include fever, cough, wheezing, stomach cramps, and intestinal obstruction. Treatment is usually with such drugs as pyrantel pamoate or mebendazole. Hookworms are contracted primarily by walking barefooted through contaminated soil. They are most commonly found in temperate and warm, moist climates. The worms penetrate the skin and travel to the small intestine where they attach themselves to the mucosa and suck blood. The most common symptom is abdominal pain. Anemia may also occur. Therapies: Standard Enterobiasis usually is self-limiting if good hygiene is followed. However, most individuals prefer some type of treatment, and the drug pyrantel pamoate is usually prescribed. One dose of pyrantel pamoate, repeated in two weeks, usually stops the infestation. Reinfestation is likely since eggs deposited as long as one week after therapy may survive, and eggs deposited before therapy may survive for up to three weeks. The entire family is usually treated. Petroleum jelly may be applied topically to relieve itching. Treatment to prevent reinfection includes careful attention to personal hygiene, especially the washing of hands and fingernails, clothing and bed linens. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Enterobiasis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control 1600 Clifton Road, NE Atlanta, GA 30333 (404) 329-3534 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1796-1797. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 2051-2053. ENTEROBIASIS. M.K. Libbus; NURSE PRACT (September, 1983; issue (8)). Pp. 17-18. Enterobiasis pagetitle 747: Enterobiasis 03712.TXT `!`!Copyright (C) 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 783: Eosinophilia Myalgia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Eosinophilia Myalgia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms L-Tryptophan Disease Eosinophilic Myalgia Tryptophan Disease Tryptophan Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Scleroderma Trichinosis Toxic Oil Syndrome Eosinophilia Fasciitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Eosinophilia Myalgia Syndrome is a disorder associated with the oral use of large doses of tryptophan (also known as L-Tryptophan), a dietary supplement often sold in health food stores. It is a disease of abrupt onset causing severe, disabling, chronic muscle pain, skin symptoms and other neurotoxic reactions. It can be diagnosed by finding unusually high levels of eosinophils in the blood (white cells). Symptoms Eosinophilia Myalgia Syndrome occurs weeks, months or even years after the oral use of tryptophan. A contaminant in the manufacturing process for some suppliers is suspected in causing the disorder. L-tryptophan is an essential amino acid present in most foods. When purchased as a "health food" people take unusually high doses of L-tryptophan which would not ordinarily be present in the normal diet. The disorder is characterized by large amounts of eosinophils (white blood cells) in the blood. The primary symptom is severe muscle pain and weakness. There may also be associated ulcers of the mouth or other mucous membranes. Sore throat, difficulty breathing (dyspnea), swollen liver and abdomen, abdominal pain and fever may also be present. Skin abnormalities resembling Scleroderma including swelling and tightening of the skin, painful itching, and pitting and edema along with peau d'orange skin of the legs may also occur. The skin symptoms usually start in the extremities (usually the legs) with the upper body becoming involved later if at all. A long term problem of sensorimotor polyneuropathy is evident in sixty-one percent of EMS patients. Causes Eosinophilia Myalgia may be caused by the ingestion of some lots of oral L-tryptophan. Tryptophan is an essential amino acid present in very small quantities in most foods. However, the amounts ingested by patients with Eosinophilia Myalgia are over and above the amounts occuring naturally in food. The drug was formerly available at health food stores without prescription as a dietary supplement. Although there was no proof of effectiveness, many patients used it to treat depression, premenstrual syndrome and insomnia. During 1990 the FDA removed tryptophan from the shelves of stores and it can no longer be purchased in this country. Scientists are still trying to determine whether the tryptophan itself causes predisposed persons to manufacture neurotoxins that cause Eosinophilia Myalgia symptoms, or whether the tryptophan is in some way contaminated in the manufacturing process. Scientists now believe they can confirm that L-tryptophan itself causes symptoms of EMS in patients who use the product. Further studies have shown that L-tryptophan contaminated with 1-1-ethylidenebis (ETB) causes more severe problems in people than regular L-tryptophan; still, L-tryptophan alone can cause EMS. Affected Population Eosinophilia Myalgia seems to affect males and females in equal numbers. The Centers of Disease Control states that as of February, 1990, 1269 cases were reported to them. Some patients have died. Related Disorders Symptoms of the following disorders can be similar to those of Eosinophilia Myalgia. Comparisons may be useful for a differential diagnosis: Scleroderma refers to a group of chronic disorders characterized by fibrosis, degenerative changes, and vascular abnormalities in the skin. Scleroderma is the chronic hardening and shrinking of the connective tissues of any part of the body, although the term literally means "hardening of the skin." (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). Trichinosis is a disorder that is caused by the parasitic round worm Trichinella spiralis. Persons become infected by eating raw or undercooked pork that contains cysts of the parasite. The symptoms include swelling of the eyelids, and mucous membranes. Aching of the muscles, fever, and increasing weakness may also be present. Toxic Oil Syndrome was an epidemic disorder associated with the eating of contaminated cooking oil that swept Spain during the summer of 1981 and affected over 20,000 persons. Its features were an initial phase of fever and pneumonitis, then gastrointestinal dysfunction and severe eosinophilia, severe myalgia, muscle contractures and severe muscular pain. Eosinophilic Fasciitis commonly occurs in the fourth to sixth decades of life. The initial symptoms may include pain, swelling and inflammation of the skin, which usually takes on a characteristic orange-peel appearance. The arms and forearms are affected more often than the thighs and legs. Arm and leg movements gradually become restricted. Inflammation of the tendons often leads to contractures of the fingers and Carpal Tunnel Syndrome. Onset of Eosinophilic Fasciitis has, in some cases, been related to the ingestion of the dietary supplement tryptophan. Symptoms most commonly follow strenuous physical activity. (For more information on this disorder, choose "Eosinophilic Fasciitis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Eosinophilic Myalgia consists of high doses of glucocorticoids (Hydrocortisone) to reduce the amount of circulating eosinophils. This treatment, however, does not usually improve the other symptoms. Therapies: Investigational Research on Eosinophilic Myalgia is ongoing. For more information about investigational therapies contact the Centers for Disease Control listed below. This disease entry is based upon medical information available through July 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Eosinophilia Myalgia, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 EMS Support Group c/o Television Workshop 3637 Green Rd. Beachwood, OH 44122 NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Centers for Disease Control 1600 Clifton Road, NE Atlanta, GA 30333 404-639-3534 Scleroderma Foundation 1725 York Avenue, Suite 29F New York, NY 10123 212-427-7040 References CITY HEALTH INFORMATION, A Publication of the New York city Department of Health, Vol. 9, No. 1, January, 1990. INTERIM GUIDANCE ON THE EOSINOPHILIA-MYALGIA SYNDROME, Editorial, Annals of Internal Medicine ( January 15, 1990, issue Vol. 112 No. 2). ASSOCIATION OF THE EOSINOPHILIA-MYALGIA SYNDROME WITH THE INGESTION OF TRYPTOPHAN, Philip A. Hertzman, et al.; New England Journal of Medicine, (March 29, 1990, issue 322, (13)). Pp. 869-87873. SCLERODERMA, FASCIITIS, AND EOSINOPHILIA ASSOCIATED WITH THE INGESTION OF TRYPTOPHAN. Richard M. Silver, et al.; New England Journal of Medicine, (March 29, 1990, issue 322, (13) ). Pp. 874-881. TRYPTOPHAN-INDUCED EOSINOPHILIA-MYALGIA SYNDROME. Editorial Board, New England Journal of Medicine, (March 29, 1990, issue 322, (13)). Pp. 926-928. Article on L-Tryptophan use and EMS featured in the October 10, 1991 issue of NATURE, P. 490.'" Eosinophilia Myalgiac" f"pagetitle 783: Eosinophilia Myalgia 03713.TXT $Copyright (C) 1991, 1992 National Organization for Rare Disorders, Inc. 814: Eosinophilic Fasciitis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Eosinophilic Fasciitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article: Synonyms Eosinophlic Syndrome Eosinophia Information on the following diseases can be found in the Related Disorders section of this report: Scleroderma Carpal Tunnel Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Eosinophilic Fasciitis is a disorder of unknown cause characterized by symmetric and painful inflammation and loss of elasticity in the tissues of the hands, arms, legs and feet. The disorder has been recently recognized as a variant of Scleroderma, a disease in which connective tissue in the body shrinks and hardens. Eosinophilic Fasciitis most commonly affects middle-aged men. It has also been related to ingestion of L-Tryptophan, a food supplement sold in health food stores as a sleeping aid. Symptoms Eosinophilic Fasciitis most commonly occurs in the fourth to sixth decades of life. Few childhood cases have been reported. The initial symptoms may include pain, swelling and inflammation of the skin, which usually takes on a characteristic orange-peel appearance. The arms and forearms are affected more often than the thighs and legs. Arm and leg movements gradually become restricted. Inflammation of the tendons (tendosynovitis) often leads to contractures of the fingers and Carpal Tunnel Syndrome. (See related disorder section of this report for more information on Carpal Tunnel Syndrome.) Trunk involvement occurs in approximately 50% of reported cases, but the face is usually spared. Fatigue and weight loss are common. Pain in the muscles (myalgia) and arthritis may also occur. Skin changes are also common in the hands and feet, with the skin appearing puckered and eventually losing its elasticity while developing a consistency described as woody. Onset of skin changes is usually characterized by a general feeling of ill health, low-grade fever and pains in the joints and muscles. (See Related Disorder section for more information on Carpal Tunnel Syndrome.) Strenuous physical activity may intensify symptoms of Eosinophilic Fasciitis. In rare cases, cardiac abnormalities, Sjogren's Syndrome, Aplastic Anemia and Thrombocytopenia may develop. (For more information on these disorders, choose "Sjogren," "Aplastic Anemia," and "Thrombocytopenia" as your search terms in the Rare Disease Database.) Causes The exact cause of Eosinophilic Fasciitis is unknown. Some scientists believe that it may be a variant of Scleroderma. Others believe it to be an autoimmune disease. Autoimmune disorders occur when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms attack perfectly healthy tissue. In cases where onset of Eosinophilic Fasciitis has been related to ingestion of the dietary supplement L-Tryptophan, patients have gotten Eosinophilic Fasciitis after days, months or years of taking this amino acid. In some cases of Eosinophilic Fasciitis, it is related to injection of L-Tryptophan from one manufacturer. A trace contaminant in some lots of L-tryptophan appears responsible. An attack of Eosinophilic Fasciitis commonly follows strenuous physical activity. Scientists now believe they can confirm that L-tryptophan itself causes symptoms of Eosinophilia Faciitis in patients who use the product. Further studies have shown that L-tryptophan contaminated with 1-1-ethylidenebis tryptophan (ETB) causes more severe problems in people than regular L-tryptophan; still, L-tryptophan alone can cause Eosinophilia Faciitis. Affected Population Eosinophilic Fasciitis occurs most frequently in middle-aged men. It is also more prevalent in Caucasians. In about 50% of reported cases there is a history of unusual exertion or unaccustomed exercise preceding the onset of the condition, and this exertion has occurred within a time span of a few hours to several weeks of onset of Eosinophilic Fasciitis symptoms. The Centers for Disease Control (CDC) is studying the cases of Eosinophilic Fasciitis related to L-Tryptophan to determine why some people who have ingested this dietary supplement have gotten Eosinophilic Fasciitis. Related Disorders Symptoms of the following disorder can be similar to those of Eosinophilic Fasciitis. Comparisons may be useful for a differential diagnosis: Scleroderma refers to a group of disorders characterized by degenerative changes in the skin and by the chronic hardening and shrinking of the connective tissues of any part of the body. In some cases, the disease may progress to include the esophagus, intestines, kidneys, thyroid gland, heart and lungs. Although the two disorders are very similar, there are several important differences between Scleroderma and Eosinophilic Fasciitis. In Eosinophilic Fasciitis, the fingers and toes are seldom involved; the skin is often puckered rather than smooth and not devoid of hair as it is in Scleroderma; the skin is often warm to the touch rather than cool as in Scleroderma; and the involvement of other organs is not usually found in Eosinophilic Fasciitis. (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). The following disorder may be associated with Eosinophilic Fasciitis as a secondary characteristic. It is not necessary for a differential diagnosis: Carpal Tunnel Syndrome is a common disorder caused by compression of the peripheral nerves in one or both wrists. It is characterized by a sensation of numbness, tingling, burning and/or pain in the hand and wrist. Persons affected by this disorder may be awakened at night with the feeling that the hand has "gone to sleep." Strain or injury involving the hand and wrist, or various other disorders such as Eosinophilic Fasciitis may cause Carpal Tunnel Syndrome. (For more information on this disorder, choose "Carpal Tunnel" as your search term in the Rare Disease Database). Therapies: Standard Diagnosis of Eosinophilic Fasciitis is made by biopsy of the affected skin, deep enough to include adjacent muscle fibers. Many individuals with Eosinophilic Fasciitis respond favorably to corticosteroid therapy, and the drug prednisone is commonly prescribed. Prednisone therapy may be required for two months or longer. The drug cimetidine may be used as an alternative. The most dramatic response to corticosteroids occurs early in the course of the disease. Spontaneous and sometimes complete remission may occur following an interval of two to five years. Sometimes, corticosteroid therapy is not completely successful, and recurrence of the disorder has been observed after discontinuation of therapy. Unfavorable responses to corticosteroid therapy are usually related to the association of Eosinophilic Fasciitis with Aplastic Anemia, Thrombocytopenia, Hemolytic Anemia and Hodgkin's Disease. (For more information on these disorders, choose "Aplastic Anemia," "Hemolytic Anemia," and "Hodgkin" as your search terms in the Rare Disease Database.) Therapies: Investigational This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Eosinophilic Fasciitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Centers for Disease Control 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 Scleroderma Foundation 1725 York Avenue, Suite 29F New York, NY 10123 (212) 427-7040 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, M.D. et al., eds; W.B. Saunders Company, 1988. Pp. 2021. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, M.D., ed.-in-chief; Little, Brown and Co., 1987. Pp. 1294-1296. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1279-1280. EOSINOPHILIC FASCIITIS IN A PAIR OF SIBLINGS. G.T. Thomson et al.; ARTHRITIS RHEUM (January, 1989: issue 32 (1)). Pp. 96-99. EOSINOPHILIC FASCIITIS: CLINICAL SPECTRUM AND THERAPEUTIC RESPONSE IN 52 CASES. S. Lakhanpal et al.; SEMIN ARTHRITIS RHEUM (May, 1988: issue 17 (4)). Pp. 221-231. Article on L-tryptophan use and Eosinophilia Myalgia featured in the October 10, 1991 issue of NATURE. P. 490. Eosinophilic Fasciitis &pagetitle 814: Eosinophilic Fasciitis 03714.TXT #Copyright (C) 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 862: Epidermal Nevus Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Epidermal Nevus Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Linear Sebaceous Nevus Syndrome Linear Sebaceous Nevus Sequence Nevus Sebaceous of Jadassohn Ichthyosis Hystrix Gravior Inflammatory Linear Nevus Sebaceous Syndrome Lambert Type Ichthyosis Linear Nevus Sebacous Syndrome Porcupine Man Sebaceous Nevus Syndrome Information on the following conditions can be found in the Related Disorders section of this report: Birthmarks Sturge-Weber Syndrome Tuberous Sclerosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Epidermal Nevus Syndrome is a rare disorder characterized by distinctive birth marks (nevus) on the skin. Neurological and skeletal abnormalities may also occur. This disorder is usually apparent at birth (due to the skin lesions which are most often seen in the midface from the forehead down into the nasal area) and is often associated with seizures, mental deficiency, eye problems, bone malformations and atrophy of the brain. The exact cause of Epidermal Nevus Syndrome is not known although an autosomal dominant trait of inheritance seems to occur in approximately two thirds of the cases. Symptoms The most visible symptom of Epidermal Nevus Syndrome is the skin lesions which are usually visible at birth. These lesions tend to form in a line and have an excess of coloring. Singular or multiple forms of the five major types of epidermal nevi may emerge. The lesions may be raised wart-like streaks, polyp-like masses forming in lines, dark velvety spots, scaly streaks or an orange, hairless, velvety patch covering part of the face, nose, eyes and scalp. The underdeveloped glands that lubricate the skin (sebaceous glands) tend to overgrow, causing the abnormal changes in the outer layer of skin. These discolored lesions are usually found in the middle of the face from the forehead down the nose and on the scalp. Less commonly, the lesions may be found on the trunk and limbs of the body. When the patient reaches puberty the lesions start to resemble wart like elevations and there is an increase in the cell growth of the sebaceous glands sometimes causing the growth of tumors. The growth and severity of these lesions usually become stable by the end of the teens. Other symptoms associated with Epidermal Nevus Syndrome may be skeletal abnormalities such as excessive development of bones, backward or lateral curvature of the spine, and deformities of the foot and ankle. Mental retardation, cysts, seizures, and abnormalities of the eyes may also occur. Causes The exact cause of Epidermal Nevus Syndrome is not known although approximately two-thirds of the cases appear to be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Epidermal Nevus Syndrome is a very rare disorder affecting males and females in equal numbers. There have been approximately 450 cases of Epidermal Nevus Syndrome reported. Hispanics, Orientals, Indians, Blacks and Whites have all been affected with this syndrome. Related Disorders Symptoms of the following disorders can be similar to those of Epidermal Nevus Syndrome. Comparisons may be useful for a differential diagnosis: The word "nevus" means birthmark. There are many disorders that include birthmarks among their symptoms. However, in most cases birthmarks are normal discolorations of the skin causing no discomfort or illness. Sturge-Weber Syndrome is a rare disorder composed of three major symptoms: Excessive blood vessel growths (leptomeningeal) are accompanied by accumulations of calcium inside the brain, and seizures. Facial birth marks (nevus flammeus) appear usually on one side of the face. Harmless tumors made up mainly of blood vessels (angiomas) can develop inside the eye, often with secondary glaucoma. (For more information on this disorder choose "Sturge-Weber Syndrome" as your search term in the Rare Disease Database). Tuberous Sclerosis is a rare disorder associated with benign tumors of the brain, skin lesions and occasionally other internal organs may be involved. It is most often characterized by two neurologic symptoms -epileptic seizures and varying degrees of mental retardation. This disorder may occur spontaneously or be inherited as an autosomal dominant trait. (For more information on this disorder choose "Tuberous Sclerosis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Epidermal Nevus Syndrome is symptomatic and supportive. Small birthmarks on patients may be removed surgically but removal of larger lesions often does not improve the appearance. A watery solution of propylene glycol combined with lactic acid may be topically put on the skin lesions. There may be slight improvement with this treatment. Retinoic acid solution applied topically may also be used but this treatment also only shows slight improvement. Abnormalities of the eyes, bones and other organs may require medical attention. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational The Congenital Nevocytic Nevus Registry has been established by Dr. Alfred W. Kopf as a long-term study of such lesions. This study will provide information on the natural history of congenital nevi, including the incidence of malignant melanoma. For information on entry into the registry, please contact: Alfred W. Kopf, MD, Dept. of Dermatology 562 First Ave. New York, NY 10016 (212) 340-5260 The orphan product Monolaurin (Glylorin) is being tested for the treatment of Epidermal Nevus Syndrome. The product is manufactured by: Cellegy Pharmaceuticals, Inc. 371 Bel Marin Keys, Suite 210 Novato, CA 94949 This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Epidermal Nevus Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203-746-6518 Giant Congenital Pigmented Nevus Support Group 12 Twixt Hill Rd. Ridgefield, CT 06877 (203) 438-3863 Nevus Network 1400 S. Joyce St., #C1201 Arlington, VA 22202 (703) 920-2349 (405) 377-3403 Nevus Support Group 58 Necton Rd. Wheathampstead, Herts AL4 8AU England Foundation for Ichthyosis and Related Skin Types, Inc. (F.I.R.S.T.) P.O. Box 20921 Raleigh, NC 27619-0921 (919) 782-5728 (800) 545-3286 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 914-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 662. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 446. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1251-52. THE EPIDERMAL NEVUS SYNDROME: CASE REPORT AND REVIEW: L.H. Goldberg, et al., Pediatr Dermatol (May, 1987, issue 4(1)). Pp. 27-33. EPIDERMAL NEVUS SYNDROME: A.S. Paller, Neuro Clin (August, 1987, issue 5(3)). Pp. 451-7. Epidermal Nevus Syndrome %pagetitle 862: Epidermal Nevus Syndrome 03715.TXT 4Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 1: Epidermolysis Bullosa _________________________ ** IMPORTANT ** It is possible that the main title of the article (Epidermolysis Bullosa) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Acantholysis Bullosa Acanthosis Bullosa Bullosa Hereditaria Dowling-Meara Syndrome EB Epidermolysis Bullosa Acquisita Epidermolysis Bullosa Hereditaria Epidermolysis Bullosa Letalias Epidermolysis Hereditaria Tarda Goldscheider's Disease Hallopeau-Siemens Disease Heinrichsbauer Syndrome Herlitz Syndrome Hyperplastic Epidermolysis Bullosa Keratolysis Kobner's Disease Localized Epidermolysis Bullosa Polydysplastic Epidermolysis Bullosa Weber-Cockayne Disease DISORDER SUBDIVISIONS: Simplex Epidermolysis Bullosa, also known as Non-Scarring Epidermolysis Bullosa Dystrophic Epidermolysis Bullosa, also known as Scarring Bullosa Information on the following report can be found in the Related Disorders section of this report: Ectodermal Dysplasia Ichthyosis, Peeling Skin Syndrome Syphilis, Congenital General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Epidermolysis Bullosa (EB) refers to a group of rare, hereditary skin diseases. It is characterized by fragile skin in which blisters and raised areas, that usually contain fluid (vesicles), develop following minor trauma. In some forms of EB the mucous membranes are involved. Healing is impaired in some forms, causing multiple scars or damage to underlying muscle tissue (contractures). Symptoms Epidermolysis Bullosa is divided into the following subdivisions based upon the depth of the blisters. In EB SIMPLEX (non-scarring), the blisters occur within the outer layers of the skin (epidermis). The Weber-Cockayne form of EB simplex is characterized by the development of blisters following minor trauma to the hands and feet and other friction points. It is inherited as an autosomal dominant trait. In EB herpetiformis (Dowling-Meara), which is another form of EB simplex, there is widespread blistering and much of the body may be affected. This is probably inherited through autosomal dominant genes. The mucous membranes are seldom involved. Blisters usually heal without scars; secondary infection is the primary complication. Warm weather may aggravate the condition. Patients with the simplex form usually have normal mental and physical development. In JUNCTIONAL EB, the blisters occur deeper within the layers of the skin (lamina lucida of the basement membrane zone.) The Herlitz type (EB lethalis) has extensive blisters of skin and mucous membranes and is usually fatal in the newborn period. In other junctional forms of EB, such as the generalized junctional form, there may be extensive facial blistering (erosions) and loss of nails. All junctional forms are probably inherited as autosomal recessive traits. EB DYSTROPHIC (scarring) is characterized by blisters that develop beneath the lowest layer of the skin (basement membrane zone). All forms of dystrophic EB cause scarring. They can be inherited through both autosomal dominant and recessive genes. The recessive dystrophic form (Hallopeau-Siemens) is the most severe. Blisters appear on the arms and legs and are widespread, affecting mucous membranes and skin. Blisters leave scars and small "seed-like" or miliary cysts after healing. The tongue, eyes and esophagus are often affected. Teeth may be malformed and nails may be lost. Scars leave "mitten" deformities of the fingers and toes. In some cases, hair follicles may be destroyed and hair loss (alopecia) develops. Malnutrition, anemia and growth retardation can result from chronic blood loss and poor food intake. Causes Epidermolysis Bullosa, in its various forms, is inherited as either autosomal dominant or recessive traits. The genetic defect may cause abnormalities of the substances that are necessary for skin growth such as keratin and collagen, and the enzyme collagenase. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or the father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers of the recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. In non-scarring Epidermolysis Bullosa Simplex, researchers have found that genes on chromosomes 12 and 17 are involved in causing the disorder. The exact way in which this occurs has yet to be fully explained; however, scientists believe they have found the genes responsible for the development of EB Simplex, and are studying these genes to determine the underlying biochemical defect. The gene for Type VII Collagen has been located on chromosome 3 in a family with dominant dystrophic EB. Scientists are hopeful that this information may lead to improved treatment of EB patients in the future. Affected Population About 25,000 to 50,000 persons in the United States are thought to be affected by all forms of Epidermolysis Bullosa. Related Disorders Symptoms of the following disorders can be similar to those of Epidermolysis Bullosa. Comparisons may be useful for differential diagnosis: Congenital Syphilis is a chronic infectious disease given to a baby by an infected mother. It is caused by a bacteria known as Spirochete treponema pallidum. Symptoms include but are not limited to low birth weight, fever, rash and the shedding of skin on the palms of the hands and the soles of the feet. The shedding or absence of skin during infancy may be confused with the diagnosis of Epidermolysis Bullosa. (For more information on this disorder choose "Syphilis, Congenital" as your search term in the Rare Disease Database). Ectodermal Dysplasia is a rare inherited disorder. It is thought to be inherited through an autosomal dominant gene; however, cases have been reported that are thought to be autosomal recessive inheritance. Ectodermal Dysplasia presents as the absence of skin on all or parts of the fingers and/or toes, and the absence or closure of the tear ducts in the eyes (lacrimal glands). Cleft palate and lip may also be present. Brown spots (macules) may be present over the chest and abdomen. (For more information on this disorder, choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database.) Ichthyosis or Peeling Skin Syndrome is a group of rare genetic disorders characterized by the periodic shedding of the outer layer of the skin (stratum corneum). Patients with Ichthyosis have skin that is thicker than normal. Redness (erythroderma) and itching (pruritus) may also be present. Some patients with Ichthyosis have short stature. (For more information on these disorders choose "Ichthyosis" as your search term in the Rare Disease Database). Therapies: Standard Therapy for Epidermolysis Bullosa is symptomatic and supportive. Antibiotics are useful to prevent or treat infection. Patients need good nursing and support care. A high protein diet is helpful in cases where malnutrition develops. A modified, cool environment is also more comfortable for patients with this disease. Care should be taken when removing bandages so as not to disturb the scabs. Therapies: Investigational Research on Epidermolysis Bullosa is ongoing in the areas of new drugs, wound healing antibiotics, the inhibition of blister formation and genetics. The anticonvulsant and cardiac depressant drug phenytoin (Dilantin) has a beneficial effect in the test tube by blocking collagenase but does not seem clinically useful in reducing blistering on patients. The orphan drug, Sucralfate Suspension, is being tested as a treatment of oral ulcerations and dysphagia in Epidermolysis Bullosa patients. The drug is manufactured by Naska Pharmacal Co., 55 Plant Ave., Hauppauge, NY, 11788. Medical researchers have successfully transplanted donor skin cells grown in tissue culture onto damaged skin of a patient with Epidermolysis Bullosa. The culture technique involves growing epidermal cells to produce sheets of skin cells called keratinocytes in laboratory dishes. Approximately half the sheets of tissue grafted onto the patient's skin became attached successfully, with no sign of infection, rejection or recurrent blistering during a four year follow-up period. Also, structures which normally connect layers of skin (anchoring fibrils) and are absent or defective in severe Epidermolysis Bullosa, were found to develop after these skin grafts. However, more research is needed to determine if this procedure will be safe and effective on more EB patients. Studies are also underway to explore the effectiveness of cyclosporine, and cyclosporine in conjunction with prednisone on EB Acquista. A national Epidermolysis Bullosa Registry at Rockefeller University is attempting to enroll and follow Epidermolysis Bullosa patients over a long period of time. Interested persons may contact: Dr. Martin Carter The Rockefeller University Hospital Laboratory for Investigative Research New York, NY 10021 (212) 570-8091 Genetic studies are underway at several research institutions to identify the genes that cause each type of Epidermolysis Bullosa and learn why they cause the blistering symptoms. The study of these genes will hopefully lead to improved diagnosis and treatments. Scientists are doing research on gene therapy for Epidermolysis Bullosa. Volunteers are needed for studies in developing genetic screening and gene therapy. Scientsts will work through the patient's own physician. Interested persons should contact: Dr. Elaine Fuchs or Elizabeth Hutton at (312) 702-1347. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Epidermolysis Bullosa, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dystrophic Epidermolysis Bullosa Research Association of America, Inc. (D.E.B.R.A.) 141 Fifth Ave., Suite 7-South New York, NY 10010 (212) 995-2220 Eugene Bauer, M.D. Stanford University, School of Medicine Department of Dermatology 851 Welch Rd. Stanford, CA 94304-1677 Dr. Martin Carter The Rockefeller University Hospital Laboratory for Investigative Research New York, NY 10021 (212) 570-8091 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 D.E.B.R.A. 7 Sandhurst Lodge Wokingham Road Crowthorne Berkshire RG11 7QD England Tel: 0344 771961 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CLINICAL DERMATOLOGY, 2nd ed.; Thomas P. Habif, M.D., Editor: The C.V. Mosby Company, 1990. Pp. 419-421. DERMATOLOGIC CLINICS: THE GENODERMATOSES: J. Alper, ed.; W.B. Saunders Co. 1987 (volume 5, number 1). Pp. 27-30. MENDELIAN INHERITANCE IN MAN, 8th ed.; Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 303-306. TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman, M.D., Editor: The W.B. Saunders Co., 1992. Pp. 1642-1643. INHERITED AND ACQUIRED BLISTERING DISEASES, S.I. Katz; The New England Journal of Medicine (July 16, 1992; 327 (3)): 196-197.7 (3)): 196-197. Epidermolysis Bullosa 5pagetitle 1: Epidermolysis Bullosa 03716.TXT l'l'Copyright (C) 1987, 1988, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 477: Epidermolytic Hyperkeratosis ** IMPORTANT ** It is possible the main title of the article (Epidermolytic Hyperkeratosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Bullous Congenital Ichthyosiform Erythroderma Disorder of Cornification 3 (Bullous Type) DOC 3 Bullous Type Information on the following disorders may be found in the Related Disorders section of this report: Ichthyoses Ichthyosis Congenita (Ichthyosis Vulgaris) X-linked Ichthyosis Epidermolysis Bullosa Epidermolysis Bullosa Acquisita Psoriasis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Epidermolytic Hyperkeratosis is a hereditary skin disorder that is characterized by thick, blistery, warty hardening of the skin over most of the body. This disorder is a form of Ichthyosis which is a group of rare skin diseases. (For more information, choose "Ichthyosis" as your search term in the Rare Disease Database.) Symptoms Symptoms of Epidermolytic Hyperkeratosis are present at birth. The skin appears warty, blistery, and thick over most of the body surface. Many warts may be found in skin creases over joints. Symptoms of the disorder range from mild to severe. Causes Epidermolytic Hyperkeratosis is a hereditary disorder transmitted by autosomal dominant genes thought by some scientists to be located on chromosome 12, the keratin K1 gene. Other blistering skin disorders have also been liked to keratin genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Researchers have found the genetic defects responsible for Epidermolytic Hyperkeratosis. Defects or mutations (an unusual change in genetic material occurring for no apparent reason) in keratin proteins have been shown to cause EHK. Keratin is a protein that is a primary part of the skin, hair, nails, and enamel of the teeth. This new information is expected to lead to prenatal diagnosis and development of new treatments for this disorder. Affected Population Epidermolytic Hyperkeratosis is present at birth. It is a very rare disorder affecting males and females in equal numbers. Related Disorders Symptoms of the following disorders may be similar to those of Epidermolytic Hyperkeratosis. Comparisons can be useful for a differential diagnosis. "Ichthyoses" or "Disorders of Cornification" are general terms describing a group of scaly skin disorders. They are characterized by an abnormal accumulation of large amounts of epidermal cells into squamous cells (squames) in the top layer of the skin. The conversion of an abnormally large number of epidermal cells into squamous cells is thought to be caused by a defect in the metabolism of skin cells known as "corneocytes" or of the fat-rich matrix around these cells. The cells can be thought of as bricks, while the matrix would be the mortar holding these cells together. (For more information, choose "ichthyosis" as your search term in the Rare Disease Database.) Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma; Desquamation of Newborn) is an inherited skin disorder. It is characterized by an generalized, abnormally red, dry and rough skin, with large coarse scales. Itchiness (pruritis) usually also develops. Skin on the palms of the hands and soles of the feet is abnormally thick. (For more information on this disorder, choose "Ichthyosis Congenita" as your search term in the Rare Disease Database.) X-linked Ichthyosis is an inherited skin disorder caused by a deficiency of the enzyme steroid sulfatase. This enzyme deficiency leads to biochemical alterations in the steroid sex hormone metabolism, including diminished estrogen production during fetal development. Cholesterol sulfate accumulates in blood, skin, and other tissues after birth, causing scaliness and abnormalities of the eye's cornea. Levels of sex hormones do not appear to be affected. For more information, choose X-linked Ichthyosis as your search term in the Rare Disease Database.) Other forms of Ichthyosis include Sjogren-Larsson Syndrome, Netherton Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier Disease, Conradi-Hunerman Syndrome and Chanarin-Dorfman Syndrome. Search under each name for more information on that disorder in the Rare Disease Database.) Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery-gray scaling spots (papules) or plaques which usually appear on the scalp, elbows, or knees. (For more information on this disorder, choose "Psoriasis" as your search term in the Rare Disease Database.) X-linked Ichthyosis is an inherited skin disorder that occurs only in males. Symptoms may appear at birth or during infancy. It is characterized by large, dark, sometimes fine scales which are prominent on the neck and trunk. Skin on the palms of the hand and soles of the feet is normal. Cloudy areas (opacities) in the cornea of the eye may also occur. (For more information, choose "Ichthyosis" as your search term in the Rare Disease Database.) Therapies: Standard Epidermolytic Hyperkeratosis can be diagnosed before birth by taking a few cells from the fluid in the water sac that surrounds the fetus, and testing for abnormalities. This test is called amniocentesis. Epidermolytic Hyperkeratosis is treated by applying skin softening (emollient) ointments, such as petroleum jelly, especially after bathing while the skin is still moist. Salicylic acid in a gel composed of propylene glycol, ethyl alcohol, hydroxypropylene cellulose, and water is usually effective. The skin should be covered at night with an airtight and waterproof dressing when this ointment is used. Lactate lotion can also be an effective treatment for this disorder. Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and etretinate may be effective against symptoms of Epidermolytic Hyperkeratosis, but can cause toxic effects on the bones in some cases. A synthetic derivative of Vitamin A, isotretinoin, when taken by pregnant women, can cause severe birth defects to the fetus. These Vitamin A compounds have not yet been approved by the Food and Drug Administration (FDA) for treatment of Ichthyosis. Long-term treatment with antibiotics such as benzathine penicillin or oral erythromycin may be required for as long as the thick scaling is present. This may prevent formation of pustules in Epidermolytic Hyperkeratosis. Therapies: Investigational The orphan product Monolaurin (Glylorin) is being tested for treatment of Epidermolytic Hyperkeratosis. The product is manufactured by: Cellegy Pharmaceuticals, Inc. 371 Bel Marin Keys, Suite 210 Novato, CA 94949 This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Epidermolytic Hyperkeratosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.) P.O. Box 410453 San Francisco, CA 94103 (415) 591-1653 (800) 545-3286 The following doctors are conducting research on Ichthyosis: Dr. Ervin H. Epstein, Jr. Dept. Dermatology University of California, San Francisco Chicago, IL (415) 647-3992 Dr. Robert D. Goldman Dept. of Cell Biology and Anatomy Northwestern University Medical School Chicago, IL (312) 503-4215 Dr. Leonard Milstone Dept. of Dermatology Yale University Medical School New Haven, CT (203) 937-3833 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION. THE ICHTHYOSES: M.L. Williams, et al.; Dermatol Clin (January 1987; issue 5(1). Pp. 155-178. THERAPEUTIC ACTIVITY OF LACTATE 12% LOTION IN THE TREATMENT OF ICHTHYOSIS. ACTIVE VERSUS VEHICLE AND ACTIVE VERSUS A PETROLEUM CREAM: M. Buxman, et al.; Journal Am Acad Dermatol (December 1986: issue 15(6). Pp. 1253-1258. THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. P. 1034. Epidermolytic Hyperkeratosis x(pagetitle 477: Epidermolytic Hyperkeratosis 03717.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 759: Epididymitis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Epididymitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Epididymitis, Nonspecific, Acute Epididymitis, Specific Epididymitis, Syphilitic Epididymitis, Tuberculous Information on the following diseases can be found in the Related Disorders section of this report: Testicular Torsion Orchitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Epididymitis is an infection of the long tightly coiled tube called the epididymis, which is located behind each testicle and carries sperm from the testicle to the ejaculatory duct. Symptoms Epididymitis usually has a sudden onset, with symptoms of fever, chills and pain in the scrotum. The epididymis tube behind the testicle may be swollen and tender along with the adjacent testis. There may also be an abnormal accumulation of fluid (edema) in the scrotal skin, along with inflammation of the spermatic cord. Infected men may need to urinate frequently, and urination may be painful. If the Epididymitis is caused by gonorrhea, sterility may result. Causes Epididymitis may be caused by a bladder infection (cystitis), or it may occur as a complication of gonorrhea, prostate disorders, a catheter or tuberculosis. In men under 35, most cases are caused by the sexually transmitted bacteria Neisseria gonorrhoeae or Chlamydia trachoatis. Most men with this infection also have an inflammation of the canal that transports urine and sperm (urethra). In men over 35, most cases are caused by coliform gram-negative bacilli. These men usually have pus in the urine (pyuria) and show histories of recent urologic procedures. Epididymitis is occasionally caused by extreme straining which results in urine backing up the reproductive tract to the epididymis tube. Nonbacterial Epididymitis is of unknown cause. Although urinalysis is often normal, symptoms of nonbacterial Epididymitis are similar to those of the bacterial type. Affected Population Epididymitis may affect any adult male. Certain forms of the infection may be sexually transmitted, and sexual partners of infected individuals should seek medical evaluation. Related Disorders Symptoms of the following disorders can be similar to those of Epididymitis. Comparisons may be useful for a differential diagnosis: Testicular Torsion is the twisting of the testicle on the spermatic cord. This may occur at any age, but it is most common in adolescents. It may happen for no apparent reason. Testicular torsion occasionally occurs while sleeping or following strenuous exercise. If untreated, it may cause strangulation of the blood supply to the testicle and result in permanent damage. Major symptoms, which are similar to those of Epididymitis, may include pain (often severe enough to cause nausea and vomiting), and swelling, redness and tenderness of the scrotum. Treatment involves manipulation of the testicle by a physician to return it to its normal position. Surgery is usually performed immediately to anchor the testicle permanently in place. Orchitis is an infection of the testicle which most commonly occurs as the result of Epididymitis that has not been properly treated. Orchitis may be caused by a bacterial infection in which case it is treated with antibiotics. In some cases, orchitis is associated with a viral infection such as mumps, and may result in irreversible damage to the testes and infertility. Therapies: Standard Treatment of Epididymitis consists of bed rest, scrotal elevation, scrotal ice packs, analgesics for pain and antibiotics such as ampicillin, amoxicillin or trimethoprim. Unless an abscess forms, surgical drainage is not required. Recurrent bacterial Epididymitis, secondary to a chronic inflammation of the urethra (urethritis) or prostate (prostatitis), may be prevented by surgical vasectomy. In those forms of Epididymitis that are sexually transmitted, the sexual partner of the infected individual may also require treatment with antibiotics. Nonbacterial forms of epididymitis usually disappear spontaneously unless complicated by an abscess. Symptoms of nonbacterial epididymitis may be relieved by nerve block of the spermatic cord with a local anesthetic. It is very important that any pain or swelling in the scrotum receives prompt medical attention. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Epididymitis, please contact: National Organization for Rare Disorders (NORD) (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 American Social Health Association 100 Capitola Dr., Suite 200 Research Triangle Park, NC 27713 (919) 361-8400 National Sexually Transmitted Diseases Hotline (800) 227-8922 Council for Sex Information and Education 444 Lincoln Blvd., Suite 107 Venice, CA 90291 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1619-1620. GONOCOCCAL EPIDIDYMITIS. Abdul et al.; CUTIS (August, 1988: issue 42 (2)). Pp. 135-136. SCROTAL ULTRASONOGRAPHY: A PREDICTOR OF COMPLICATED EPIDIDYMITIS REQUIRING ORCHIECTOMY. W.A. See et al.; J UROL (January, 1988; issue 139 (1)). Pp. 55-56. EPIDIDYMITIS AFTER TRANSURETHRAL PROSTATECTOMY. K. Fujita et al.; CLIN THER (1988; 10 Spec. No.). Pp. 56-59. Epididymitis pagetitle 759: Epididymitis 03718.TXT `HNHCopyright (C) 1985, 1989, 1990, 1991, 1992 1992 National Organization for Rare Disorders, Inc. 41: Epilepsy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Epilepsy) is not the name that you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Seizures Convulsions Disorder Subdivisions: Grand Mal Epilepsy (Major Epilepsy or Status Epilepticus) Jacksonian Epilepsy (Focal Epilepsy) Myoclonic Progressive Familial Epilepsy (Unverricht Syndrome, Lundborg-Unverricht Disease, Lafora Disease or Unverricht-Lundborg-Laf Disease) Petit Mal Epilepsy (Minor Epilepsy, Pyknoepilepsy, Akinetic Seizure or Myoclonic Seizure) Myoclonic Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome; Petit Mal Variant) Febrile Seizures Psychomotor Epilepsy (Temporal Lobe Epilepsy, Psychomotor Equivalent, Psychomotor Convulsion and Epilepsia Procursiva or Abdominal Epilepsy) Information on the following diseases can be found in the Related Disorders section of this report: Wilson's Disease Kok Disease (Hyperexplexia) Myoclonus Narcolepsy General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Epilepsy is a group of disorders of the central nervous system characterized by repeated convulsive (paroxysomal) electrical disturbances in the brain. The major symptoms may include loss of consciousness, convulsions, spasms, sensory confusion and disturbances in the nerves that control involuntary body functions (autonomic nervous system). Episodes of these symptoms are frequently preceded by an "aura." An aura is described as a feeling of uneasiness or sensory discomfort that precedes the onset of a seizure. Epilepsy may take several different forms including: Grand Mal Epilepsy (Major Epilepsy, Status Epilepticus); Jacksonian Epilepsy (Focal Epilepsy); Myoclonic Progressive Familial Epilepsy (Unverricht Syndrome, Lundborg-Unverricht Disease, Lafora Disease, Unverricht-Lundborg-Laf Disease); Petit Mal Epilepsy (Minor Epilepsy, Pyknoepilepsy, Akinetic Seizure, Myoclonic seizure); Myoclonic Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome, Petit Mal Variant); Febrile Seizures; and Psychomotor Epilepsy (Temporal Lobe Epilepsy, Psychomotor Equivalent, Psychomotor Convulsion with Epilepsia Procursiva, Abdominal Epilepsy). Symptoms Epilepsy is a group of disorders characterized by electrical discharges in the brain. There are no established factors that bring on an epileptic seizure that are common to all patients. However, visual phenomena such as flickering lights or sunbursts, are frequently cited by people with Epilepsy as preceding an attack. In certain patients the likelihood of having a seizure increases with stress, fatigue, insufficient food intake and/or the failure to take prescribed medications. Epilepsy may be subdivided according to the type of seizures; namely, general and partial seizures. There are further subdivisions within these categories. GENERALIZED SEIZURES. People with Epilepsy who have generalized seizures typically loose consciousness when the seizure occurs. During a generalized seizure electrical discharges occur in both sides (hemispheres) of the brain at the same time. These discharges may be observed by a physician on an electroencephalograph (EEG). An electroencephalography is a diagnostic test that produces a chart of brain wave activity. Shortly before a seizure, people with Epilepsy may have a variety of symptoms and sensations. These may include abdominal and chest discomfort, nausea, dizziness, heart palpitations, headache, impaired speech (aphasia), shortness of breath (dyspnea), tightening in the throat and/or numbness in the hands, lips or tongue. Some patients may experience visual disturbances or hallucinations, or find themselves in a "dreamlike" state. The sense of smell and hearing may also be distorted. Early symptoms (prodromal signs) may precede the seizure attack by hours or weeks and may include irritability and odd mannerisms (i.e., smacking the lips repeatedly). Grand Mal (tonic-clonic) Epileptic seizures typically occur after sudden electrical disruptions in both sides of the brain. Grand Mal seizures may occur repeatedly or only once. Status Epilepticus is a severe form of a grand mal seizure. In this form a series of convulsions continue to take place while the patient is unconscious. Status Epilepticus is life-threatening and requires immediate hospitalization. There are 3 stages to Grand Mal or tonic-clonic seizures. In the first stage, which may last about 30 seconds, the person loses consciousness and may fall down. Spasms of the muscles in the voice box (larynx) may cause the person to scream or cry loudly and contractions of major muscles may cause muscle rigidity or stiffness (tonic contraction). The second stage of Grand Mal seizures may last for several minutes. Violent spasms of muscles may cause the face, head, and/or arms and legs to jerk wildly (clonic spasms). The teeth may be gnashed together and the eyes may roll wildly. Breathing can become shallow and perhaps stop momentarily. These symptoms may be accompanied by a discharge of saliva from the mouth, a bluish coloration of the skin (cyanosis), and a loss of bladder and/or bowel control. In the third or postictal stage, consciousness returns. Recovery may take seconds to hours and is often followed by an extended period of confusion, drowsiness, fatigue and/or excitement. The onset of Petit Mal epileptic seizures usually occurs between the ages of 4 and 12. These seizures rarely occur after the age of 20. Petit Mal seizures are short in duration and may occur often. These seizures are characterized by the loss of consciousness, eye fluttering and the absence of movement (motor activity). Symptoms may be confused with a behavioral disorder or "daydreaming," and this may lead to a delay in the diagnosis of Petit Mal Epilepsy. Epileptic seizures may also occur during infancy. Generalized infantile seizures are characterized by "jackknife" muscle spasms ("salaam" seizures). During these seizures the child's head and torso curve forward as the knees are drawn up toward the chest in a characteristic posture. Infantile seizures may occur in children 3 months to 2 years old. The muscle spasms may last for only a few seconds but typically occur repeatedly throughout the day. Myoclonic (bilateral massive epileptic) epileptic seizures are sudden, brief muscle spasms of the arms and legs or the entire body. Myoclonic jerks may recur rapidly or may be limited to one episode only. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database.) PARTIAL SEIZURES. Simple partial epileptic seizures are characterized by symptoms that are related to the specific motor area of the brain (cerebral cortex) that is involved. Partial seizures are typically brief and there is no loss of consciousness. Jacksonian (Rolandic) epileptic seizures begin with twitching in a finger or toe. The twitching may then extend to adjoining muscles. Symptoms of partial epileptic seizures typically occur on one side of the body and the person does not lose consciousness. Partial Epileptic Seizures with mixed symptoms (Complex Partial Epileptic Seizures, Temporal Lobe or Psychomotor Seizures) may be characterized by unprovoked aggressive behavior and other unusual behaviors. There may be an impairment of consciousness. The electrical "storm" or discharges that characterize this type of epileptic seizure usually occurs in the lateral portions of the brain (temporal lobes of the cerebrum). Causes The exact cause of Epilepsy is unknown. Hereditary factors have been suggested as a possible cause in Essential Epilepsy. Some types of Epilepsy occur as a symptom of other disorders, while others are thought to be caused by head injuries. In some families there may be a genetic predisposition to epilepsy, but scientists do not understand the hereditary factors that may make a person vulnerable to getting seizures. The most common causes of recurring seizures in infants include: genetic inborn errors of metabolism; other metabolic disorders; developmental brain defects; injuries occurring a few months before birth or a few weeks after birth (perinatal); and/or a severe lack of oxygen (hypoxia). In children the typical causes of new-onset epileptic seizures can include: inflammation of the membranes that surround the brain and the spinal cord (meningitis); inflammation of the brain (encephalitis); brain abscesses and/or tumors; exposure to poisons or toxins; diseases that affect the blood vessel system (vascular diseases); degenerative diseases of the brain; and/or head trauma. Epileptic seizures that occur in infants or children as a result of an abnormally high fever (Febrile Seizures) generally do not recur. In adults the beginning of epileptic seizures can sometimes be associated with a brain tumor, trauma to the head, stroke, cerebrovascular disease and/or degenerative brain disease. However, in many cases the cause cannot be identified. Affected Population It is estimated that 150,000 people develop Epilepsy each year in the United States. Approximately 75 percent of people who have Epilepsy have symptoms of the disorder before the age of 20 years. Epilepsy affects males and females in equal numbers. Combined together approximately 2 to 3 million Americans have Epilepsy but the majority are seizure free due to effective medications. Related Disorders Symptoms of the following disorders can be similar to those of Epilepsy. Comparisons may be useful for a differential diagnosis: Wilson's Disease is a rare inherited disorder that affects the liver, eyes and neuromuscular system. Symptoms develop due to the excessive accumulation of copper in body tissues, particularly the liver, brain and eyes. Early diagnosis and treatment of Wilson's Disease may prevent serious long-term disabilities. Neuromuscular symptoms of Wilson's Disease generally appear between the ages of 12 and 32 years. These symptoms may include drooling, joint pain (dysarthria), impaired speech (dysphasia), lack of muscle coordination, tremors, involuntary jerky muscle movements, muscle rigidity and double vision. Other late symptoms of Wilson's Disease may include a decrease in cognitive abilities, behavioral changes, kidney stones, depression and other psychiatric disturbances. (For more information on this disorder, choose "Wilson's" as your search term in the Rare Disease Database). Kok Disease (Hyperexplexia) is a very rare inherited disorder of the neurological system. People with Kok Disease have an excessive startle reaction to sudden and/or unexpected noise, movement or touch. When the individual with Kok Disease is startled, the head may arch back and there may be jerking muscle movements (myoclonic jerks). When startled the individual may also fall to the ground in a rigid position. Some people with Kok Disease also experience seizures. (For more information on this disorder, choose "Kok Disease" or "Hyperexplexia" as your search term in the Rare Disease Database.) Myoclonus is a neurological movement disorder in which a skeletal muscle undergoes sudden, involuntary contractions resulting in jerky movements. There are 3 types of Myoclonus: Intention, rhythmical, and arrhythmic. Intention myoclonus is characterized by episodes of involuntary muscle contractions that are triggered by voluntary movements, such as a purposeful action. In arrhythmic myoclonus, muscle jerks are arrhythmic and sudden. The muscle jerking may be confined to a single muscle or involve the all of the skeletal muscles on one or both sides of the body. The stimulus for the onset of an episode may be sensory (visual, auditory, and/or tactile), or it may be fatigue, stress or anxiety. An extreme startle response may also be present. Rhythmical (segmental) myoclonus is characterized by very rapid and frequent muscle jerks. In contrast to Arrhythmic Myoclonus, this type of Myoclonus is not relieved by sleep and is not triggered by sudden stimuli or voluntary movements. Myoclonic muscle jerks may sometimes be confused with the muscle jerks and rigidity that occur in some forms of Epilepsy. (For more information on this disorder, choose "Myoclonus" as your search term in the Rare Disease Database.) Narcolepsy is a rare neurological sleep disorder characterized by extreme unnatural drowsiness during the day, sudden loss of voluntary muscle tone (cataplexy), hallucinations, sleep paralysis, and/or disrupted sleep during the night. Symptoms usually begin between the ages of 10 and 20 years. The development and severity of symptoms vary greatly among patients. Exaggerated daytime drowsiness is usually the first symptom. The person with Narcolepsy may describe a feeling of sleepiness, tiredness, lack of energy, a "sleep attack", and/or the inability to resist sleep. People with Narcolepsy who have cataplexy can fall asleep so suddenly that they appear to drop to the floor unconscious. In sleep paralysis, the person with Narcolepsy want to move but cannot do so. (For more information on this disorder, choose "Narcolepsy" as your search term on the Rare Disease Database.) Therapies: Standard Epilepsy is treated with anticonvulsant drugs that attempt to prevent and control seizures. The drugs that are currently used include phenytoin, valproic acid, carbamazepine, phenobarbital, clonazepam, ethosuximide, primidone, acteazolamide, paraldehyde, trimethadione, corticotropin and corticosteroids. Brain surgery for Epilepsy that is caused by a brain tumor or drug-resistant temporal lobe epilepsy, may be tried after medications have failed to stop seizures. Surgery is generally not performed until other treatment methods have failed. The success rate for such surgeries is approximately 55 to 70 percent. It is very important to protect the Epilepsy patient from self-injury during a seizure. Protective measures should include clearing the area of any object that is hard or sharp, loosening tight clothing and placing a flat, soft object under the head. The patient should be turned on the side and if possible something soft and flat (such as a pad or wallet) may be placed between the teeth. Restraint is not advised. The administration of artificial respiration should be attempted only if breathing does not start after the seizure has stopped. When the seizure is over, the patient should be allowed to sleep or be helped home if he or she seems confused. If the patient wants to sleep, the head and shoulders should be raised. It is possible that some people with Epilepsy who have had no seizures during an extended period of time (several years), may reduce or discontinue anticonvulsant medications under close supervision by a doctor. Therapies: Investigational At the present time studies are being conducted on many experimental anti-convulsant drugs for the treatment of Epilepsy. These drugs include nimodipine, praziquantel, clomiphene and lorazapam. More research is necessary to determine their long-term safety and effectiveness as treatments for Epilepsy. The orphan drug Fosphentoin is being tested as a treatment for acute attacks of Grand Mal Status Epilepticus. The drug is manufactured by Warner-Lambert Co., 2800 Plymouth Road, Ann Arbor, MI, 48105. Wallace Laboratories is testing Felbamyl (Felbamate), an antiepileptic drug. Felbamate is also being studied for use in Lennox-Gestaut Syndrome (Myoclonic Astatic Petit Mal Epilepsy). More research must be conducted to determine long-term safety and effectiveness of this drug as a treatment for Epilepsy. A form of Diazepam (Valium) that can be administered rectally is being tested by Usher-Smith Laboratories, Inc. in Minneapolis, MN for the treatment of acute repetitive seizures. This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Epilepsy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Epilepsy Foundation of America 4351 Garden City Drive Landover, MD 20785 (800)332-1000 (301)459-3700 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2202-2213. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2145. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 249-270. SUBLINGUAL LORAZAPAM IN CHILDHOOD SERIAL SEIZURES. J. Yager et al.; AM J DIS CHILD (September 1988; issue 142 (9)). Pp. 931-932. SEIZURE CONTROL WITH CLOMIPHENE THERAPY. A CASE REPORT. A. Herzog; ARCH NEUROL (February 1988; issue 45 (2)). Pp. 209-210. CONTROL OF EPILEPSY PARTIALIS CONTINUANS WITH INTRAVENOUS NIMODIPINE. REPORT OF TWO CASES. L. Brandt et al.; J. NEUROSURG (December 1988; issue 69 (6)). Pp. 949-950. EpilepsyWI ZIpagetitle 41: Epilepsy 03719.TXT 1Copyright (C) 1990 National Organization for Rare Disorders, Inc. 781: Epilepsy, Myoclonic Progressive Familial _________________________ ** IMPORTANT ** It is possible that the main title of the article (Epilepsy, Myoclonic Progressive Familial) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Myoclonic Epilepsy Myoclonic Progressive Familial Epilepsy Myoclonus Epilepsy Progressive Familial Myoclonic Epilepsy Disorder Subdivisions: Lafora('s) Disease (Lafora Body Disease) Unverricht-Lundborg(-Laf) Disease (also known as Baltic Myoclonus Epilepsy, Lundborg-Unverricht Disease, Unverricht Disease or Syndrome) Myoclonic Epilepsy, Hartung Type Information on the following disorders can be found in the Related Disorders section of this report: Postanoxic Myoclonus Juvenile Myoclonic Epilepsy (JME; EJM; Impulsive Petit Mal; Janz Syndrome) Huntington's Disease Tourette Syndrome Wilson's Disease Kufs Disease Ramsay-Hunt Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Myoclonic Progressive Familial Epilepsy is a disorder of the central nervous system. It begins in childhood, and is progressive. The main characteristic of this form of myoclonus is jerking involuntary muscle movements may involve muscles in the limbs or the whole body. As the disease progresses, there is impairment of mental capabilities, which may lead to loss of reason (dementia). Myoclonic epilepsy can be a symptom of many central nervous system disorders. Symptoms There are three different types of Myoclonic Progressive Familial Epilepsy. In Lafora's Disease, onset usually occurs around the age of 15 in the form of grand mal seizures and/or myoclonus. Lafora's Disease may be detected by the presence of particles (Lafora bodies) in various cells including the nervous system (such as the brain, spinal cord, and nerve cells), retina (part of the eye), heart, muscle (or muscle fibers), and liver. Diagnosis of Lafora's Disease may be made through a biopsy to determine the presence of Lafora bodies in tissue. As Lafora's Disease progresses, mental deterioration occurs. Grand mal seizures occur, which are characterized by convulsive muscle spasms, loss of consciousness, and confusion. The Unverricht-Lundborg type of epilepsy is frequently found in persons of Finnish and Swedish heritage. Onset of this disorder may occur anywhere between the ages of six and thirteen. Its features are convulsions, with myoclonus beginning one to five years later. Muscle spasms occur in the limbs and may be seen as minor twitching motions; later they may become violent enough to cause the patient to fall to the ground. Mental deterioration occurs as the disease progresses. The duration and seriousness of the disorder is variable. In advanced cases, inability to coordinate voluntary muscle movements (cerebellar ataxia) occurs. Very rarely, deafness may occur, especially when cerebellar ataxia is present. Emotional instability is common. In Unverricht's, no particles can be found in cells that cause the disease (such as in Lafora's disease). However, there is a loss of nerve cells in the area of the brain that is concerned with muscle coordination and balance. Changes in the environment like flashing lights or the flickering of sunlight may cause the worst symptoms (stimulus-sensitive myoclonus). Other features are generalized tonic-clonic seizures which are sometimes combined with absence attacks (petit mal). These types of seizures may be documented by EEG readings. Myoclonic Epilepsy-Hartung Type is different has an autosomal dominant inheritance and no Lafora bodies are found, and only sporadic loss or deterioration of cells (diffuse atrophy) is present in the patient. (For more information on these and other types of seizures, choose "Epilepsy" as your search term in the Rare Disease Database). Causes Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. Myoclonic Progressive Familial Epilepsy is inherited through autosomal recessive genes. In recessive disorders, such as Lafora's Disease and Unverricht's Disease, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Myoclonic Epilepsy-Hartung Type is inherited through an autosomal dominant gene. In autosomal dominant disorders, a single abnormal gene, contributed by either parent, overrides the normal gene contributed by the other parent, causing disease. Individuals with one affected parent have a 50% chance of inheriting the disorder. Males and females will be affected in equal numbers. Affected Population Myoclonic Progressive Familial Epilepsy affects males and females in equal numbers. It begins during childhood and is a rare form of epilepsy. Related Disorders Symptoms of the following disorders can be similar to those of Myoclonic Progressive Familial Epilepsy. Comparisons may be useful for a differential diagnosis: In general, myoclonus is a group of movement disorders characterized by sudden, involuntary contractions of a skeletal muscle or group of muscles. It may be divided into two groups, rhythmical and arrhythmic myoclonus. Myoclonus may accompany a number of neurological diseases including seizure disorders, brain injuries, hereditary brain disorders, viral infections, and brain tumors. Hereditary, and idiopathic forms also exist. In Postanoxic Myoclonus the disorder begins after the brain is deprived of oxygen. (For more information about other types of myoclonus, choose "myoclonus" as your search term in the Rare Disease Database). In Juvenile Myoclonic Epilepsy, the age of onset is early. It is characterized by the presence of isolated myoclonic jerks that do not necessarily lead to major seizures. These symptoms usually occur in the morning. There may be a record of epilepsy in the family history. In some cases there is evidence that this form of epilepsy is inherited through autosomal recessive genes. Juvenile Myoclonic Epilepsy is often diagnosed through use of the electroencephalograph (EEG) which demonstrates evidence of the illness even when no seizures are present. Occasionally, some family members who show no outward symptoms of the disorder will show the same EEG characteristics. This disorder is chronic but not progressive. Huntington's Disease (also known as Huntington's Chorea) is an inherited, progressively degenerative neurological illness. Those affected experience abnormal involuntary movements (chorea), loss of motor control, changes in gait, loss of memory, and eventual loss of both mental capacity and physical control. In general, onset of HD occurs in adults between thirty and fifty years of age and runs a progressive course, severely weakening patients usually over a ten to twenty year period. (For more information on this disorder, choose "Huntington's Disease" as your search term in the Rare Disease Database). Tourette Syndrome is a neurological movement disorder which begins in childhood between the ages of 2 and 16. The disease is characterized by involuntary abrupt muscular movements called " tics", and uncontrollable vocal sounds. Sometimes inappropriate words may occur. Tourette Syndrome is not a degenerative disorder and those affected can expect to live a normal life span. (For more information on this disorder, choose "Tourette Syndrome" as your search term in the Rare Disease Database). Wilson's Disease is a rare genetic disorder characterized by excess storage of copper in the body tissues, particularly in the liver, brain, and corneas of the eyes. It eventually leads to liver disease, neurological abnormalities such as seizures, and a characteristic rusty-brown colored ring in the cornea of the eyes known as Kayser-Fleischer rings. Involuntary abnormal movements, particularly tremor and chorea, and behavioral changes are early symptoms of this disorder. (For more information on this disorder, choose "Wilson" as your search term in the Rare Disease Database). The following disorders may be associated with Myoclonic Progressive Familial Epilepsy. They are not necessary for a differential diagnosis: Kufs Disease is a very rare disorder of the central nervous system marked initially by progressive weakness with diminished muscle coordination, seizures, rapid involuntary jerky movements and rarely blindness. This disorder can be inherited as either a dominant or recessive trait and is usually slowly progressive. (For more information on this disorder, choose "Kufs Disease" as your search term in the Rare Disease Database). Ramsay-Hunt Syndrome is an autosomal dominant disorder in which epilepsy and myoclonus accompany significant spinocerebellar degeneration and other progressive neurological abnormalities. (For more information on this disorder, choose "Ramsay" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Myoclonic Progressive Familial Epilepsy includes valproic acid and clonazepam which are anticonvulsant drugs. Therapies: Investigational Treatment of Myoclonic Progressive Familial Epilepsy for patients who continue to have seizures despite anticonvulsant medication may include the drug zonisamide along with valproic acid and a bezodiazepine drug. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. This disease entry is based upon medical information available through November 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Myoclonic Progressive Familial Epilepsy, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The Epilepsy Foundation of America 4341 Garden City Drive Landover, MO 20785 (800) 332-1000 (301) 459-3700 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 506, 893, 1090-1091. DIAGNOSIS OF LAFORA DISEASE BY SKIN BIOPSY. J.W. White Jr. et al.; J Cutan Pathol (June 1989; issue 15 (3)). Pp. 171-175. JUVENILE MYOCLONIC EPILEPSY. M.J. Clement et al.; Arch Dis Child (September , 1988; issue 63 (9)). Pp.1049-1053. JUVENILE MYOCLONIC EPILEPSY: AN AUTOSOMAL RECESSIVE DISEASE. C.P. Panayiotopoulos et al.; Ann Neurol (May 1989; issue 25 (5)). Pp. 440-443. JUVENILE MYOCLONIC EPILEPSY: CHARACTERISTICS OF A PRIMARY GENERALIZED EPILEPSY. F.E. Dreifuss; Epilepsia (1989; issue 30 (4)). Pp. 1-7, 24-27. PROGRESSIVE MYOCLONUS EPILEPSY TREATED WITH ZONISAMIDE. T.R. Henry et al.; Neurology (June 1988; issue 38 (6)). Pp. 928-931. VALPROATE MONOTHERAPY IN CHILDREN. J.V. Murphy; Am J Med (January 25, 1988; issue 84 (1A)). Pp. 17-22. Epilepsy, Myoclonic Progressive Familial 2pagetitle 781: Epilepsy, Myoclonic Progressive Familial 03720.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 609: Epitheliopathy, Acute Posterior Multifocal Placoid Pigment _________________________ ** IMPORTANT ** It is possible that the main title of the article (Acute Posterior Multifocal Placoid Pigment Epitheliopathy) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms APMPPE Information on the following disease can be found in the Related Disorders section of this report: Retinitis Pigmentosa General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) is a rare, acquired eye disorder. Major symptoms include rapid temporary loss of vision and inflammation of the retinal veins. Symptoms APMPPE is characterized by multiple flat, yellow-white lesions of the posterior pole of the retina. There are usually signs of inflammation in the veins of the retina which subside without treatment. However, pigment changes in the retina are generally permanent. In some cases the resulting vision loss can be permanent, but in most cases the disorder is characterized by rapid but temporary loss of vision. Causes The exact cause of APMPPE is not known. Researchers suspect that it may be caused by a virus. It can subside without treatment or it may reoccur at any time. The viruses may stay dormant in humans for extended periods of time, then for reasons yet unknown may unexplainably become reactivated. Affected Population APMPPE affects males and females of all ages in equal numbers. It is a very rare disorder. Related Disorders Symptoms of the following disorder can be similar to those of APMPPE. Comparison may be useful for a differential diagnosis: Retinitis Pigmentosa (RP) is one of a group of inherited diseases causing degeneration of the retina. When the retina degenerates, as in Retinitis Pigmentosa, the vision decreases and may occasionally be lost. One of the earliest symptoms is difficulty seeing at night or in dimly lit places. This is slowly followed by tunnel vision. The rate and extent of progression is extremely variable, but RP does not occur with the sudden onset of APMPPE. (For more information on this disorder, choose "RP" as your search term in the Rare Disease Database). Therapies: Standard Treatment of APMPPE is symptomatic and supportive. Very often vision returns without specific treatment. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Acute Posterior Multifocal Placoid Pigment Epitheliopathy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Vision Foundation, Inc. 818 Mt. Auburn Street Watertown, MA 02172 (617) 926-4232 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 References ACUTE POSTERIOR MULTIFOCAL PLACOID PIGMENT EPITHELIOPATHY; T. M. Goen, et al.; J Am Optom Assoc (February, 1987, issue 58 (2)). Pp. 112-117. ACUTE POSTERIOR MULTIFOCAL PLACOID PIGMENT EPITHELIOPATHY; T. Autzen, et al.; Acta Ophthalmof (June, 1986, 64 (3)). Pp. 267-270. ACUTE POSTERIOR MULTIFOCAL PLACOID PIGMENT EPITHELIOPATHY ASSOCIATED WITH DIFFUSE RETINAL VASCULITIS AND LATE HAEMORRHAGIC MACULAR DETACHMENT; M. Isashiki, et al.; Br J Ophthalmol (April, 1986, issue 70 (4)). Pp. 255-259. Epitheliopathy, Acute Posterior Multifocal Placoid Pi...nt pagetitle 609: Epitheliopathy, Acute Posterior Multifocal Placoid Pigment 03721.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 738: Erb's Palsy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Erb's Palsy) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Erb/Duchenne's Palsy Erb Paralysis Information on the following diseases can be found in the Related Disorders section of this report: Parsonnage-Turner Syndrome Peripheral Neuropathy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Erb's Palsy is caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is usually seen in newborns and occurs as a result of a difficult delivery. Symptoms Erb's Palsy is a paralysis of the shoulder and upper extremity. It is most often seen in newborns. This disorder is characterized by an abnormal positioning (adduction) and internal turning of the shoulder with a rotation of the forearm. This rotation causes the hand to be turned downward (pronation). On the affected side there may also be paralysis of the diaphragm, a loss of feeling and a wasting of the muscles (atrophy). The wrist and hand are usually not affected by any loss of feeling or function. Causes Erb's Palsy is an injury to the nerve roots and surrounding nerves of the upper brachial plexus. This type of nerve injury can be caused by abnormal stretching of the shoulder during a difficult labor, a delivery where the buttocks presents first (breech), or excessive sideways movement of the neck during delivery. Affected Population Erb's Palsy is an uncommon disorder that affects males and females in equal numbers. It is most often seen in newborns but injuries caused by abnormal stretching of the shoulder may cause Erb's Palsy at any age. Related Disorders Symptoms of the following disorders can be similar to those of Erb's Palsy. Comparisons may be useful for a differential diagnosis: Parsonnage-Turner Syndrome is a common inflammation of a group of nerves that control the muscles of the chest, arm, forearm and hand (brachial plexus). This disorder causes severe shoulder and neck pain that may radiate down the arm and into the hand. (For more information on this disorder, choose "Parsonnage" as your search term in the Rare Disease Database). Peripheral Neuropathy is a syndrome characterized by sensory, motor, reflex and blood vessel (vasomotor) symptoms. These symptoms can occur singly or in any combination, (For more information on this disorder, choose "Neuropathy, Peripheral" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Erb's Palsy usually consists of physical therapy and splinting of the affected area. Improvement is usually rapid, but in some cases surgery may be necessary to repair the damaged nerves. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Erb's Palsy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References THE MERCK MANUAL, 15th Ed.: Robert Berkow, M.D. ed-in-chief; Merck, Sharp & Dohme Laboratories., 1987. Pp. 1872. ERB/DUCHENNE'S PALSY: A CONSEQUENCE OF FETAL MACROSOMIA AND METHOD OF DELIVERY. L. McFarland, et al.; OBSTET GYNECOL (December 1986, issue 68 (6)). Pp. 784-788. BRACHIAL PLEXUS PALSY IN THE NEWBORN. S. Jackson, et al.; J BONE JOINT SURG [AM] (September 1988, issue 70 (8)). Pp. 1217-1220. EARLY MICROSURGICAL RECONSTRUCTION IN BIRTH PALSY. H. Kawabata, et al.; CLIN ORTHOP (February 1987, (215)). Pp. 233-242. DUCHENNE-ERB PALSY. EXPERIENCE WITH DIRECT SURGERY. J. Comtet, et al.; CLIN ORTHOP (December 1988, (237)). Pp. 17-23. PRELIMINARY EXPERIENCE WITH BRACHIAL PLEXUS EXPLORATION IN CHILDREN: BIRTH INJURY AND VEHICULAR TRAUMA. J. Piatt Jr., et al.; NEUROSURGERY (April 1988 issue 22 (4)). Pp. 715-723. Erb's Palsy pagetitle 738: Erb's Palsy 03722.TXT Copyright (C) 1993 National Organization for Rare Disorders, Inc. 943: Erdheim-Chester Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Erdheim-Chester Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lipid Granulomatosis Xanthogranulomatosis, Generalized Visceral Xantho-Granulomatosis Lipid Storage Disease Polyostotic Sclerosing Histiocytosis ECD Information on the following diseases can be found in the Related Disorders section of this report: Histiocytosis-X Wegener's Granulomatosis Granulomatous Disease, Chronic Granulomatosis, Lymphomatoid General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Erdheim-Chester Disease is an extremely rare lipid storage disorder. It is characterized by hardening of the growth areas of the long bones of the body. Fatty-like (lipid) cell deposits (histiocytes) are found in various vital organs of the body such as: heart, lungs, the lining of the abdominal cavity (peritoneum), the kidneys, and other tissues. Severity of the disease differs with each patient. Symptoms Erdheim-Chester Disease effects the growth areas of the long bones of the body. Bones harden because of the abnormal deposits of fatty-like nodular cellular material (lipid granulomatous histiocytes). The lipid may infiltrate various organs of the body causing problems in the heart, kidneys, liver, lungs, and rarely the eyes. The abnormal lipid deposits may cause the infiltrated organ to cease functioning properly resulting in very serious consequences. Abnormal deposits of granulomatous material in the heart results in abnormal heart function (cardiomyopathy). If material is deposited in the lungs, severe lung disease occurs, and in the kidneys it will cause chronic renal failure. Blindness can result if the eyes are effected. Other organs that can be effected include the liver, spleen, thyroid, skin and gums. Causes The exact cause of Erdheim-Chester Disease is unknown. Symptoms are caused by the abnormal deposits of fatty-like (lipid) granulomatous material in various body systems. The lipid material effects bone growth and organ functioning. If left untreated, the disorder can be life-threatening. Affected Population Erdheim-Chester Disease is a very rare disorder that effects males and females in equal numbers. There have been approximately thirty cases mentioned in the medical literature. Persons of all ages and nationalities are effected. Related Disorders Symptoms of the following disorders can be similar to those of Erdheim-Chester Disease. Comparisons may be useful for a differential diagnosis: Histiocytosis-X is a group of disorders characterized by the abnormal accumulation of a specific type of tissue cell (histiocytes) in various organs. The type of damage depends on the size and location of the growths. The bones, skin, liver, spleen, lungs, and brain are most commonly affected. (For more information on this disorder, choose "Histiocytosis-X" as your search term in the Rare Disease Database.) Wegener's Granulomatosis is an uncommon collagen vascular disorder that begins as a localized inflammation of the upper and lower respiratory tract and usually progresses into generalized inflammation of the blood vessels (vasculitis) and kidneys. (For more information on this disorder, choose "Wegener" as your search term in the Rare Disease Database.) Chronic Granulomatous Disease, is characterized by the widespread development of granulomatous lesions of the skin, lungs, and lymph nodes. Evidence of chronic infections may be seen in the liver, stomach, brain, and eyes. (For more information on this disorder, choose "Chronic Granulomatous Disease" as your search term in the Rare Disease Database.) Lymphomatoid Granulomatosis is a progressive disease that can lead to destruction of the veins and arteries by nodular lesions. It can effect the lungs, skin, kidneys or central nervous system. (For more information on this disorder, choose "Lymphomatoid Granulomatosis" as your search term in the Rare Disease Database.) Therapies: Standard Erdheim-Chester Disease is usually treated with corticosteroid drugs and chemotherapy (vinblastine and doxorubicin). A diagnosis is made through bone biopsy and x-ray or magnetic resonance imaging (MRI) scans. Therapies: Investigational This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Erdheim-Chester Disease, please contact: National Organization for Rare Disorders (NORD) P.O. ox 8923 New Fairfield, CT 06812 (203) 746-6518 National Arthritis, Musculoskeletal & Skin Diseases (NIAMS) Clearinghouse Box OX AMS Bethesda, MD 20892 (301) 468-3235 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1022-1023, 1286-1287. ERDHEIM-CHESTER DISEASE. CASE REPORT AND REVIEW OF THE LITERATURE. R.L. Miller, et al.; Am J Med, June, 1986, (issue 80 (6)). Pp. 1230-1236. ORBITAL AND EYELID INVOLVEMENT WITH ERDHEIM-CHESTER DISEASE. A REPORT OF TWO CASES. J.A. Shields, et al.; Arch Ophthalmol, June, 1991, (issue 109 (6)). Pp. 850-854. ERDHEIM-CHESTER DISEASE. CASE REPORT WITH AUTOPSY FINDINGS. M.G. Fink, et al.; Arch Pathol Lab Med, June, 1991, (issue 115 (6)). Pp. 619-623. PREMATURE ALVEOLAR BONE LOSS IN ERDHEIM-CHESTER DISEASE. I.H. Valdez, et al.; Oral Surg Oral Med Oral Pathol, September, 1990, (issue 70 (3)). Pp. 294-296. Erdheim-Chester Disease pagetitle 943: Erdheim-Chester Disease 03723.TXT pagetitle 757: Erysipelas Copyright (C) 1990 National Organization for Rare Disorders, Inc. 757: Erysipelas _________________________ ** IMPORTANT ** It is possible that the main title of the article (Erysipelas) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Saint Anthony Fire Cellulitis Information on the following diseases can be found in the Related Disorders section of this report: Orbital Cellulitis Herpes Zoster Angioedema Contact Dermatitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Erysipelas is a bacterial infection characterized by a spreading inflammation of the skin and its underlying tissue (cellulitis) particularly on the face, arms or legs. It is a type of cellulitis which is a due to an acute infection by streptococci bacteria. Symptoms Erysipelas usually first appears as a localized, tender red lesion that rapidly becomes bright red, shiny, hot and painful and develops a raised, spreading border. There may be accompanying high fever, chills, headache, nausea and a general feeling of ill health. The skin in the infected area may resemble the peel of an orange. Infants may develop Erysipelas on the abdomen due to infection of the umbilical cord. In children and adults the most commonly affected areas are the face, legs and arms. Infection may also occur at sites of minor surgery or trauma, and may be a complication of lymphatic obstruction. Causes Erysipelas is caused by group A streptococci bacteria. Affected Population Erysipelas is a fairly common infection that may affect anyone at any age. It is most common in infants, young children and the elderly. Related Disorders Symptoms of the following disorders can be similar to those of Erysipelas. Comparisons may be useful for a differential diagnosis: Orbital Cellulitis is a bacterial infection characterized by inflammation of the tissue surrounding the eye. Symptoms may include pain in the eye socket, abnormal protrusion of the eyeball, impaired movement of the eye, swelling of the eyelid and fever. Herpes Zoster is a viral infection of the central nervous system. It is characterized by the eruption of blisters, nerve pain and severe itching of the skin. The involved skin is usually very sensitive and painful. (For more information on this disorder, choose "Herpes Zoster" as your search term in the Rare Disease Database). Hereditary Angioedema is a disorder characterized by swelling of parts of the skin of the hands or feet, the eyelids, lips and genitalia. The swollen tissue is painful and hard to the touch. (For more information on this disorder, choose "Angioedema, Hereditary" as your search term in the Rare Disease Database). Contact Dermatitis is a common acute or chronic skin inflammation triggered by substances that one is allergic to which come in contact with the skin. It is characterized by red, itching, oozing, crusting, scaling, burning and painful skin. (For more information on this disorder, choose "Contact Dermatitis" as your search term in the Rare Disease Database). Therapies: Standard Erysipelas is usually treated with oral antibiotics such as penicillin or erythromycin. Cold packs, aspirin and pain relievers may be prescribed for relief of local discomfort. If the Erysipelas is extensive, the infected individual may have to be hospitalized to receive antibiotics intravenously. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Erysipelas, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Institute of Allergy and Infectious Disease 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1508. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 49-51, 2265. CHANGES IN THE PATTERN OF INFECTION CAUSED BY STREPTOCOCCUS PYOGENES. E. Gaworzewska et al.; EPIDEMIOL INFECT (April, 1988; issue 100 (2)). Pp. 257-269. CELLULITIS AND RELATED SKIN INFECTIONS. S.J. Suss et al.; AM FAM PHYSICIAN (September, 1987; issue 36 (3)). Pp. 126-136. ERYSIPELAS AND GROUP G STREPTOCOCCI. M. Hugo-Persson et al.; INFECTION (May-June, 1987; issue 15(3)). Pp. 184-187. Erysipelas 03724.TXT Copyright (C) 1986, 1989, 1992 National Organization for Rare Disorders, Inc. 280: Erythema Multiforme _________________________ ** IMPORTANT ** It is possible the main title of the article (Erythema Multiforme) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dermatostomatitis Erythema Multiforme Bullosum Erythema Polymorphe Febrile Mucocutaneous syndrome Herpes Iris General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Erythema Multiforme is an inflammatory skin disorder characterized by symmetric red and blistery (bullous) lesions of the skin or mucous membranes of the hands, feet and eyelids. Symptoms Onset of Erythema Multiforme is usually sudden. Red spots (macules or papules), or ridges (wheals), and sometimes blisters, appear mainly on the back of hands, feet and face. Bleeding lesions on the lips and the mucous membranes in the mouth can also occur. The skin lesions are usually distributed on both sides of the body and they often appear as rings, with concentric circles having a grayish discoloration in the center. Itching can also occur. Systemic symptoms vary; malaise, pain in the joints (arthralgia), muscular stiffness and fever are frequent. Attacks usually last 2 to 4 weeks and may recur during the fall and spring for several years. Stevens-Johnson syndrome is a severe form of Erythema Multiforme. (For more information, choose "Stevens Johnson" as your search term in the Rare Diseases Database.) Causes In approximately 50% of cases of Erythema Multiforme, the cause is unknown. In children and young adults, infections caused by Herpes Simplex (probably the most commonly found etiologic agent), Coxsackie- and Echoviruses have been identified as the cause of Erythema Multiforme. The following may also result in this disorder: Mycoplasma pneumonia, Psittacosis, Histoplasmosis, and Vaccinia, Bacillus Calmette-Guerin, and Poliomyelitis vaccines. In other cases, x-ray therapy or drugs (e.g., penicillin, sulfonamides, and barbiturates) can sometimes cause Erythema Multiforme in susceptible people. While the precise mechanisms by which infectious agents or drugs cause the condition in some people is unknown, but it appears to be an unpredictable allergic reaction to these substances. In some cases Erythema Multiforme may occur during the latter half of pregnancy. In these cases the disorder usually disappears after delivery or if the pregnancy is terminated. Affected Population People of both sexes and all ages can be affected by Erythema Multiforme. Related Disorders Urticaria (hives) is easily recognized by the typical well-defined edematous ridges (wheals). This type of skin disorder does not include blisters. Erythema Nodosum is an inflammatory disease of the skin and subcutaneous tissue characterized by tender red nodules, predominantly appearing on the shins but occasionally involving the arms or other areas. Bullous Pemphigoid is a chronic benign blistery (bullous) skin eruption seen chiefly in the elderly. Dermatitis Herpetiformis (Duhring Disease) is a chronic skin eruption characterized by clusters of intensely itchy blisters, elevated spots (papules) and urticaria-like lesions. Pemphigus is an uncommon serious hereditary skin disorder characterized by blisters (bullae) in the top layer (epidermis) of apparently healthy skin and mucous membranes. (For more information on the above disorders, choose "urticaria," "pemphigoid," "Duhring," and "pemphigus" as your search terms in the Rare Disease Database.) Therapies: Standard When a cause for Erythema Multiforme can be found, it should be treated, eliminated, or avoided (e.g. drugs or other substances to which the patient is allergic). Local treatment depends on the type of lesion. Simple Erythema often requires no treatment and will remit with time. Blisters and erosive lesions can be treated with intermittent tap-water compresses. Infections of the lips and mouth with Erythema Multiforme may require special care. Oral hygiene is beneficial. A mouthwash of sodium bicarbonate solution in warm water is soothing and cleansing. Rinsing after each meal with elixir of dexamethasone can relieve discomfort and promote healing of nonviral oral lesions. Systemic corticosteroids have often been used in severe Erythema Multiforme, sometimes with apparent benefit. Other patients, especially those with severe mouth and throat lesions, can more readily contract serious respiratory infections if treated with systemic corticosteroids. Intensive systemic antibiotics, fluids, and electrolytes may be lifesaving in patients with extensive mucous membrane lesions. Therapies: Investigational The orphan drug thalidomide is being tested as a treatment for Erythema Multiforme. This drug should not be taken by pregnant women because it can cause severe birth defects. Physicians wishing to test thalidomide as a treatment for this disorder may contact: Pediatric Pharmaceutical 379 Thornall St. Edison, NJ 08837 Thalidomide is available in England under special license from Penn Pharmaceuticals of Tredegar, South Wales. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Erythema Multiforme, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References ERYTHEMA MULTIFORME: W. Stewart, et. al., eds; In: Dermatology: Diagnosis and Treatment of Cutaneous Disorders, 3rd edition; Mosby, 1974. Erythema Multiforme pagetitle 280: Erythema Multiforme 03693.TXT 'u'Copyright (C) 1986, 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 64: Ectodermal Dysplasias _________________________ ** IMPORTANT ** It is possible that the main title of this article (Ectodermal Dysplasias) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms DISORDER SUBDIVISIONS Anhidrotic X-Linked ED Hypohidrotic ED, Autorecessive Christ-Siemans-Touraine Syndrome Xeroderma, Talipes, and Enamel Defect Rosselli-Gulienatti Syndrome Rapp-Hodgekin Hypohidrotic ED Ectrodactyly-ED-Clefting Syndrome Hidrotic ED Cloustons Syndrome Trichodento Osseous Syndrome Trichorhinophalangeal Syndrome Ellis-van Creveld Syndrome (chondroectodermal dysplasia) Schopf-Schultz-Passarge syndrome Dentooculocutaneous Syndrome Odontotrichomelic Syndrome Tooth and Nail Syndrome Freire-Maia Syndrome Hypoplastic Enamel-Onycholysis-Hypohidrosis Gorlin's Syndrome Oculodentodigital Syndrome Monilethrix and Anodontia Oral-Facial-Digital Syndrome (type I) Curly hair-Ankyloblepharon-Nail Dysplasia Palmoplantar Hyperkeratosis and Alopecia Onychotrichodysplasia with Neutropenia Facial ED Nail Dystrophy-Deafness Syndrome Triphalangeal Thumbs-Hypoplastic Distal Phalanges-Onychodystrophy Marshall's ED with Ocular and Hearing Defects Book Syndrome Chand's ED Hypertrichosis Langinosa Incontinentia Pigmenti Naegeli Ed Otodental Dysplasia Pachyonychia Congenita Robinson's ED Stevanovic's ED Witkop ED General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. The Ectodermal Dysplasias are a group of hereditary, non-progressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, its derivatives, and some other organs are involved. A predisposition to respiratory infections, due to a somewhat depressed immune system and to defective mucous glands in parts of the respiratory tract, is the most life threatening characteristic of this group of disorders. Symptoms Symptoms include eczema, poorly functioning sweat glands, sparse or absent hair follicles, abnormal hair, disfigured nails, and difficulties with the nasal passages and ear canals. Skin is satiny smooth, prone to rashes, and slow to heal. Commonly, the teeth fail to develop properly. Other complications may include hearing deficit, loss of sight, mental retardation, limb abnormalities, cleft palate and lip, and urinary tract anamolies. Allergies are common, as are bronchitis and pneumonia. The numerous syndromes reported represent different combinations of these symptoms. They are traditionally grouped into the anhydrotic and hidrotic syndromes, according to whether they include the absence or severe deficiency of sweat glands. Some significant syndromes include Rapp-Hodgekin hypohidrotic ectodermal dysplasia, ectrodactyly ectodermal dysplasia, ectrodactyly-ectodermal dysplasia-clefting syndrome, trichorhinophalangeal syndrome, oral-facial-digital syndrome, nail dystrophy-deafness syndrome, trichodento-osseous syndrome, and the Johanson-Blizzard syndrome. Causes Ectodermal dysplasias result from faulty development of the ectodermal germ cell layer during embryogenesis. Because of the phenomenon of induction, derivatives of other cell layers may be affected. The exact genetic and biochemical defects are unknown, and are thought to vary from one form of the disorder to another. The various syndromes have different inheritance patterns. Anhidrotic ectodermal dysplasia, for example, involves an X-linked recessive inheritance, with partial manifestation in females. (X-linked recessive traits are expressed predominantly in males. Females carry the gene on one of their two X chromosomes. The second X chromosome will "mask" the trait, however, if the trait is x-linked recessive. The trait is expressed in males because instead of a second X chromosome, they have a Y chromosome which does not "mask" the harmful gene. Affected males cannot transmit the trait to their sons.) Syndromes with this pattern tend to be more severe. The Rapp-Hodgkin Syndrome, by comparison, is an autosomal dominant disorder. (In autosomal dominant disorders, a single abnormal gene, contributed by either parent, "overrides" the normal gene contributed by the other parent causing disease. Individuals with one affected parent have a 50% chance of inheriting the disorder. Males and females are affected in equal numbers.) Related Disorders There is considerable confusion about what should be considered an ectodermal dysplasia, and what should be excluded from this category. Many syndromes involve ectodermal structures, but are progeroid diseases, i.e. they involve premature ageing. Others consist of the congenital absences of a single ectodermally derived structure, such as the pituitary. Most researchers do not consider such disorders ectodermal dysplasias. Therapies: Standard No cure for the underlying causes of Ectodermal Dysplasia is known. Treatment is directed at symptoms. Over the counter creams may relieve skin discomfort. Dentures, hearing aids, etc. may be required. Heat and over-exercise are avoided. Vaccines and anti-infectious agents are used to reduce infections of skin and respiratory tract. Cleft palate and lip, syndactyly, and other limb deformations are treated by surgery. Genetic counseling is important for Ectodermal Dysplasia patients and their relatives planning to have children. Therapies: Investigational The National Institute of Dental Research in Bethesda, MD, is conducting a research project to evaluate dental treatment of individuals who have Ectodermal Dysplasia. Treatment will consist of either conventional removable dentures or fixed dentures supported by dental implants. The project is designed to evaluate the effect of dental implants on such things as satisfaction with treatment, the ability to chew foods and maintenance of the bone that supports the dentures. To be eligible to participate in this study, individuals must have Ectodermal Dysplasia, be missing several teeth, and between the ages of twelve and seventy years. A complete oral and dental examination will be provided to determine if an individual qualifies for the evaluations for a period of five years. Financial aid is expected to be available to help defray travel and lodging expenses for trips to Bethesda, MD. For additional information, physicians can contact: Albert D. Guckes, M.D. Dental Clinic, NIDR Bldg. 10, Rm. 6S-255 National Institutes of Health Bethesda, MD 20892 (301) 496-4371 (301) 496-2944 The National Foundation for Ectodermal Dysplasias is conducting a research project to determine if thermography is a reliable teat to determine the carrier status for high risk women who have no dental or other anomalies. A thermography is a diagnostic technique for recording hot and cold areas of the body by means of infra red scanning. The amount of sweating in these areas will be measured. Patients who are interested in this study may have their physician contact: National Foundation for Ectodermal Dysplasias 219 E. Main St. P.O. Box 114 Mascoutah, IL 62258-0114 (618) 566-2020 The Human Genetics Branch of the National Institute of Child Health and Human Development (NICHHD) is conducting a study of X-linked inherited Hypohidrotic Ectodermal Dysplasia. This study will attempt to explore how this disorder affects the hair, nails, teeth, hormonal function, speech, swallowing, learning, and the production of tears, sweat, and saliva. Researchers will also measure the levels of epidermal growth factor (EGF) in various body fluids. Male patients affected by X-linked Ectodermal Dysplasia and females that are known carriers may wish to have their physician contact: NIH/National Institute of Child Health and Human Development Human Genetics Branch Dr. Laura Russell Bldg. 10, Rm. 9S242 Bethesda, MD 20892 (301) 402-0889 This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ectodermal Dysplasias, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 215-16, 915. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 2347. Ectodermal Dysplasias (pagetitle 64: Ectodermal Dysplasias 03694.TXT /Copyright (C) 1993 National Organization for Rare Disorders, Inc. 935: Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate _________________________ ** IMPORTANT ** It is possible that the main title of the article (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome EEC Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Ectodermal Dysplasias Rapp-Hodgkins Syndrome Growth Hormone Deficiency General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate (EEC Syndrome) is a rare form of ectodermal dysplasia inherited as an autosomal dominant genetic trait. It can vary from mild symptoms to severe. The most common symptoms found in patients with EEC Syndrome are: missing or irregular fingers and/or toes (ectrodactyly), abnormalities of the hair and glands, cleft lip and/or palate, or unusual facial features, as well as abnormalities of the eyes and urinary tract. Symptoms The most common symptoms of Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate are: absent or irregular fingers and/or toes (ectrodactyly); and/or abnormalities of the eyes, glands, skin, teeth and urinary tract. Any combination of the following symptoms may be present in affected patients. Missing or irregular fingers and/or toes (ectrodactyly) may be present with abnormalities of the third digit being the most common. This is sometimes referred to as split hand and/or split foot deformity. The affected digits may not be the same on each side. If ectrodactyly is not present, there may be fusion or webbing of the digits (syndactyly). Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, its derivatives, and some other organs are involved. EEC Syndrome patients are typically affected with symptoms of ectodermal dysplasia. The hair may be dry, light colored, fine, and sparse with absent eyebrows and eyelashes. The skin may be dry and teeth may be missing, abnormally small or lacking enamel. (For more information on this disorder choose "Ectodermal Dysplasia" as your search term in the Rare Disease Database). Patients with EEC Syndrome may also have abnormalities of the eyes. The gland of the eye that allows tears to escape (lacrimal gland) may be missing. This gland is needed to moisten the underlining of the eyelids (conjunctiva). The opening of the glands that secrete fluid onto the back of the eyelid (meibomian gland orifice) may also be absent. An abnormally narrow passage of the channel that carries tears from the eye to the nasal cavity (nasolacrimalduct) is another condition found in some patients with EEC Syndrome. These conditions may make the patient susceptible to eye infections as well as scarring of the eye. Vision may also be affected. An opening or fissure on the roof of the mouth or lip (cleft palate and/or cleft lip) may also be present in patients with EEC Syndrome. When cleft palate and/or cleft lip are not present, the patient may have an underdeveloped jaw, a short groove in the center of the upper lip and a broad nasal tip. Widely spaced eyes (hypertelorism) and/or slanted eyes are also sometimes present. (For more information on this disorder choose "Cleft Lip" or "Cleft Palate" as your search term in the Rare disease database). Kidney abnormalities may also be a part of EEC Syndrome in some patients. The tube that carries urine from the kidney into the bladder (ureter) may be obstructed causing the pelvis and kidney duct to become swollen with an accumulation of urine (hydronephrosis). Kidney and pelvis inflammation and infection causing fever, chills, pain, nausea and frequent urination (pyelonephritis) may also occur. An absent kidney as well as duplication of a kidney has been reported in a few cases of EEC Syndrome. Brown pigmented areas on the body (macules), slowed voluntary movement, an abnormally small brain and absent long bones of the arms and legs have been found in association with EEC Syndrome in a few cases. Causes Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate is a rare disorder thought to be inherited as an Autosomal Dominant genetic trait varying in the degree to which the symptoms appear. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate is a very rare disorder that affects males and females in equal numbers. Well over seventy affected families have been reported in the medical literature. There has been a high number of EEC patients located in the country of Denmark. Related Disorders Symptoms of the following disorders can be similar to those of Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate. Comparisons may be useful for a differential diagnosis: Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, its derivatives, and some other organs are involved. Symptoms may include: eczema, poorly functioning sweat glands, sparse or absent hair follicles, absent or abnormal teeth, disfigured nails, and difficulties with the nasal passages and ears. (For more information on this disorder, choose " Ectodermal Dysplasia" as your search term in the Rare Disease Database). Rapp-Hodgkins Syndrome is a rare form of ectodermal dysplasia inherited as an autosomal dominant genetic trait. Major symptoms of this disorder include inability to sweat in combination with cleft lip and palate, dental abnormalities and lack of hair. (For more information on this disorder, choose "Rapp Hodgkins Syndrome" as your search term in the Rare Disease Database). The following disorders may be associated with Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate as secondary characteristics. They are not necessary for a differential diagnosis: Growth Hormone Deficiency has been reported in a few cases of EEC Syndrome. Growth Hormone is manufactured in the pituitary gland. If it is missing or reduced in quantity during infancy or childhood, it results in growth retardation, short stature and other maturation delays. (For more information on this disorder choose "Growth Hormone Deficiency" as your search term in the Rare Disease Database). Therapies: Standard When hydronephrosis is present, temporary drainage of the urine may be necessary. Surgery may be indicated when pain, infection and/or kidney function is compromised. Surgery may be performed on fingers and/or toes to correct webbing and malformations in some cases. Special skin care techniques may be warranted under the direction of a dermatologist, and dental treatment may be required. Treatment of a person with cleft lip and/or palate requires the coordination efforts of a team of specialists. Pediatricians, dental specialists, surgeons, speech pathologists, and psychologists must work together in planning the child's treatment and rehabilitation. Cleft palate may be repaired by surgery or covered by an artificial device (prosthesis) that closes or blocks the opening. Surgical repair can be carried out in stages or in a single operation, according to the nature and severity of the defect. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Orphan Products: The palate of cleft palate patients is closed during early childhood but difficulties may persist if the palate is excessively short in relation to the pharynx. Researchers are studying a teflon-glycerine paste that is applied to the rear of the pharynx in a minor surgical procedure. A rounder bump or ledge is formed, bringing the pharynx and palate into the proper relationship with each other. The hardened paste remains in place indefinitely; no side affects have been observed. Children as young as eight years old have been treated with this procedure. For further information on this procedure contact: William N. Williams, D.D.S. University of Florida College of Dentistry Box J-424 Gainesville, FL 32610 (904) 392-4370 Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main Street Mascoutah, IL 62258 (618) 566-2020 NIH/National Arthritis and Musculoskeletal and Skin Disease Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 496-4484 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT National Cleft Palate Association 2950 Hearne Ave Shreveport, LA 71103 (318) 635-8191 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 335. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. P .252. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 607-8. NELSON TEXTBOOK OF PEDIATRICS, 14th. Ed.; Richard E. Behrman, M.D., Editor: W.B. Saunders Company, 1992. Pp. 1629. GROWTH HORMONE DEFICIENCY ASSOCIATED WITH THE ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME: J. Knudtzon, et al.; Pediatrics (March, 1987, issue 79(3)). Pp. 410-2. EEC SYNDROME: REPORT ON 20 NEW PATIENTS, CLINICAL AND GENETIC CONSIDERATIONS: E.S. Rodini, et al.; Am J Genet (September, 1990, issue 37(1)). Pp. 42-53. GENITOURINARY ANOMALIES ARE A COMPONENT MANIFESTATION IN THE ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFT LIP/PALATE (EEC) SYNDROME: B.R. Rollnick, et al.; Am J Med Genet (January, 1988, issue 29(1)). Pp. 131-6. Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate 0pagetitle 935: Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate 03695.TXT pagetitle 634: Edema, Idiopathic Copyright (C) 1989 National Organization for Rare Disorders, Inc. 634: Edema, Idiopathic _________________________ ** IMPORTANT ** It is possible that the main title of this article (Idiopathic Edema) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Cyclic Edema Distress Edema Periodic Edema Periodic Swelling Stress Edema Information on the following disorders can be found in the Related Disorders section of this report: Angioedema Chronic Interstitial Nephritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Idiopathic Edema is a common disorder that occurs almost exclusively in women. It is characterized by salt retention in the absence of heart, kidney, or liver disease. The swelling (edema) may be episodic or persistent. Swelling of the face, hands, and feet develops rapidly, frequently accompanied by headache, irritability, and depression. Weight gain also occurs. Symptoms Idiopathic Edema is characterized by swelling (edema) that may occur occasionally or chronically. It seems to affect women almost exclusively. The swelling develops rapidly and usually affects the face, hands, and feet. The abdomen may also be bloated. Fatigue, irritability, depression, tension, and headache usually also occur. The course of the disorder is often related to the menstrual cycle. Some patients can gain as much as 10 to 12 lbs. during a 24-hour period, accompanied by a decrease in urine output. Patients seem to have an exaggerated response to standing for long periods of time, resulting in significant pitting edema of their lower extremities. Causes The exact cause of Idiopathic Edema is not known. The disorder may be caused by an imbalance of hormones such as estrogens and progesterone. The aldosterone response to upright posture plays a role in sodium and water retention in people with this disorder. Affected Population Idiopathic Edema affects young to middle-aged females almost exclusively. Related Disorders Angioedema is a widespread swelling of tissue under the skin. It occurs as an allergic reaction following either the injection of certain drugs, or insect stings or bites. Eating certain foods to which the individual is allergic, such as eggs, shellfish, nuts, or fruit, may cause a similar reaction. The swelling usually affects the back of the hands and feet, the eyelids, lips, genital area, and mucous membranes. Swelling of the trachea and bronchial passages may produce breathing difficulty. (For more information, use "Angioedema" as your search term in the Rare Disease Database.) Chronic Interstitial Nephritis is a kidney disorder usually caused by prolonged consumption of pain medications (e.g., phenacetin). It is characterized by breathing difficulty, headache, indigestion (dyspepsia), diarrhea and passage of large quantities of light-colored urine. Therapies: Standard When Idiopathic Edema persists, carefully measured use of the drugs captopril or spironolactone may restore the proper aldosterone response to the upright posture, and thus reverse the edema. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Idiopathic Edema, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 References LONG-TERM FUROSEMIDE TREATMENT IN IDIOPATHIC EDEMA: M. Shichiri, et al.; Arch Intern Med (November 1984: issue 144(11)). Pp. 2161-2164. IDIOPATHIC EDEMA IN A MALE: I. Weinberger, et al.; American Journal Med Sci (July-August 1984: issue 288(1)). Pp. 27-31. THERAPEUTIC RESPONSE OF IDIOPATHIC EDEMA TO CAPTOPRIL: D. Docci, et al.; Nephron (1983: issue 34(3)). Pp. 198-200. Edema, Idiopathic 03696.TXT `-L-Copyright (C) 1986, 1987, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 240: Ehlers-Danlos Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Ehlers-Danlos Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Arthrochalasia Multiplex Congenita Arthrochalasis-Dermatorrhexis-Dermatochalasis Cutis Hyperelastica Danlos Syndrome E-D Syndrome India Rubber Skin Meekeren-Ehlers-Danlos Syndrome Rubberman Syndrome Van Meekeren I Syndrome DISORDER SUBDIVISIONS Type I Ehlers-Danlos Syndrome, also known as Gravis (severe) ED Type II Ehlers-Danlos Syndrome, also known as Mitis (mild) ED Type III Ehlers-Danlos Syndrome, also known as Benign Hypermobility ED Type IV Ehlers-Danlos Syndrome, also known as Ecchymotic ED, Sack's ED, and Sack-Barabas Syndrome Type V Ehlers-Danlos Syndrome, also known as X-linked ED Type VI Ehlers-Danlos Syndrome, also known as Hydroxylysine-Deficient Collagen ED and Ocular ED Type VII Ehlers-Danlos Syndrome, also known as Procollagen-Persistent ED General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ehlers-Danlos syndrome is an inherited connective tissue disorder. It is characterized by the ability of patients to flex their bodies beyond the normal range (articular hypermobility), to abnormally stretch their skin (hyperelasticity of the skin), and widespread tissue fragility; i.e. skin, blood vessels and other tissues can rupture from even minor trauma. Symptoms Ehlers-Danlos syndrome can occur with different degrees of severity, ranging from mild to severe. Type I Ehlers-Danlos Syndrome, also known as Gravis (severe) ED. This type is characterized by skin which can be stretched several centimeters, but returns to its normal position upon release. Wide paperlike scars are often present over bony prominences, particularly on the elbows, knees and shins. The extent of joint hypermobility varies, but may be marked. Delayed sitting and walking may be present in babies, and unsteadiness with falling and fractures also may occur. Type II Ehlers-Danlos Syndrome, also known as Mitis (mild) ED. This is characterized by milder manifestations; joint hypermobility may be limited to hands and feet. Type III Ehlers-Danlos Syndrome, also known as Benign Hypermobility ED. This type of Ehlers-Danlos syndrome causes a marked degree of joint hypermobility. Affected individuals are able to flex their bodies well beyond the normal range. Type IV Ehlers-Danlos Syndrome, also known as Ecchymotic ED, Sack's ED, Sack-Barabas Syndrome). Minimal skin involvement and moderate or minimal joint involvement occurs in this type of Ehlers-Danlos syndrome. Marked bruisability and small hemorrhagic spots (ecchymoses) in the skin characterize this type of the disorder. A bleeding tendency may be present, but it is troublesome in only a minority of patients. Widening of the aorta near the heart, resulting from hemorrhage (dissecting aneurysm), and spontaneous rupture of large arteries occur rarely. Fleshy outgrowths (molluscoid pseudo-tumors) frequently form on top of scars or at pressure points. Type V Ehlers-Danlos Syndrome, also known as X-linked ED. This type of E-D syndrome is a hereditary form of the disorder which affects males. It is characterized by marked skin hyperextensibility, moderate joint hypermobility, and moderate fragility of the arteries and veins. Type VI Ehlers-Danlos Syndrome, also known as Hydroxylysine-deficient Collagen ED or Ocular ED. This type is an autosomal recessively inherited disorder. In this form of Ehlers-Danlos syndrome, the eyes are widely spaced and have a parrot-like or owl-like appearance with folds in the corner of the eyes next to the nose (epicanthal fold). Crossed eyes occur frequently. A blue membrane around the back of the eye (sclera) and perforation of the globe of the eye have been described in this rare autosomal recessive form of the disease. A small cornea and nearsightedness (myopia) with associated glaucoma have been described by some investigators; a conical cornea (keratoconus) and corneal thinning (megalocornea), which are abnormalities of the eye, have also been reported. Detachment of the eye's retina and corneal laceration may also occur following minor trauma. Displacement of the eye's lens (ectopia lentis), changes in the back portion of the eye (fundus), and streaks resembling blood vessels (angioid streaks) have also been described in some patients with this type of E-D. Biochemical diagnosis shows a low level of the amino acid hydroxylysine in the residue from collagen in patients with this type of E-D. Type VII Ehlers-Danlos Syndrome, also known as Procollagen-persistent ED. This type of E-D is characterized by excessive floppiness in infancy, moderate skin and vascular abnormalities and marked joint hypermobility. Dwarfism occurs occasionally. This form of E-D may be an autosomal recessive inherited disorder. Similar characteristics occur in several types of Ehlers-Danlos Syndrome. Minor trauma may cause wide gaping wounds but little bleeding. Wound closure may be difficult, since sutures tend to tear out of the fragile tissue. Surgical complications often arise because of deep tissue fragility. Fluid flowing out of membranes around joints (synovial effusion), sprains and dislocations occur frequently. The following traits may also be present: 1. Clubfoot (talipes equinovarus) -- 5% 2. Congenital dislocation of the hip -- 1% 3. Backward and lateral curvature of the spine (kyphoscoliosis) -- 25% 4. Chest deformity -- 20% 5. Flat feet are present in 90% of adult patients. Stomach and bowel (gastrointestinal) hernias and little sacs (diverticula) are common. Spontaneous hemorrhage and perforation of portions of the gastrointestinal tract are rare complications. Premature birth may occur because of tissue extensibility in an affected mother; the fetal membrane fragility and consequent early rupture of the water sack may occur if the fetus is affected. Maternal tissue fragility may complicate surgical incision of the perineum and vagina (episiotomy) or caesarian section. Bleeding may occur before, during and after childbirth. Causes Many forms of Ehlers-Danlos syndrome are autosomal dominant inherited disorders, but some forms of the disorder are inherited as either autosomal recessive or x-linked recessive traits. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Affected Population People of both sexes and all ages can be affected by Ehlers-Danlos syndrome. Some patients are diagnosed in childhood, and others during adulthood. Therapies: Standard Treatment of Ehlers-Danlos syndrome is symptomatic and supportive. Trauma, such as cuts and bruises should be especially avoided. Protective clothing and padding may be helpful. If surgery is necessary, the control of bleeding (hemostasis) must be meticulous. Wounds should be carefully sutured and tissue tension avoided. Obstetric supervision during pregnancy and delivery is mandatory. Genetic counseling should be provided for families with this disorder. Therapies: Investigational Researchers at the Washington State University Department of Veterinary Microbiology and Pathology have identified cats and dogs with certain types of Ehlers-Danlos Syndrome. Study of these animals is expected to lead to enhanced understanding of the biochemical defects that cause the syndrome and hopefully new treatments. Scientists are conducting genetic linkage studies to determine if Ehlers-Danlos X-linked and Menkes Syndrome are located on the same gene. These disorders tend to display similar problems with copper metabolism. Families with more than one affected male or carrier females may wish to participate in studies to determine the exact relationship of the genetic linkage in the two disorders. Interested persons may contact Dr. Yang at (510) 596-6916 or Dr. Packman at (415) 476-4337. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ehlers-Danlos Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Ehlers Danlos National Foundation P.O. Box 1212 Southgate, MI 48195 (313) 282-0180 Ehlers-Danlos Support Group 2 High Garth Richmond N Yorks, DL10 4DG England The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 915-16. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1178-80. Ehlers-Danlos Syndromee. h.pagetitle 240: Ehlers-Danlos Syndrome 03697.TXT @ 4 Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 426: Eisenmenger Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Eisenmenger Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Eisenmenger Complex Eisenmenger Disease Eisenmenger Reaction Information on the following disorder can be found in the Related Disorders section of this report: Pulmonary Hypertension, Primary General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Eisenmenger Syndrome is characterized by a large opening in the wall of the heart which separates the heart chambers (ventricular septal defect). The flow of blood between the heart and lungs meets with resistance (pulmonary vascular resistance, PVR). This resistance increases as the child matures, resulting in high lung (pulmonary) artery pressure. Blood that has lost its oxygen during circulation through the body needs to pass through the lungs to take up oxygen again. The high pulmonary artery pressure in patients with Eisenmenger Syndrome causes increasing difficulty breathing (dyspnea), insufficient levels of oxygen in the blood, and swelling (edema) of lung tissue. Some patients can do well until age 40 or 50 when their condition may begin to deteriorate. Symptoms Symptoms of Eisenmenger Syndrome are usually not detected during the first few months of life, although some infants may experience difficulty breathing while feeding. Onset of noticeable symptoms usually occurs between the ages of 5 to 15 years, when a slight blue discoloration of the skin (cyanosis) may occur, especially during exertion. Signs of this heart defect may be difficult to detect during infancy since there may not be an audible murmur caused by blood flow through the defective area of the heart. However, as the child grows older a heart murmur may become detectable and the skin may appear bluish (central cyanosis) because blood in the arteries does not carry a sufficient amount of oxygen. When an abnormal opening between the aorta and the pulmonary artery remains after birth (persistent ductus arteriosus), the feet will appear more bluish than the hands (differential cyanosis). Swelling due to proliferation of the soft tissue at the ends of fingers and toes (clubbing) may also occur. Patients with Eisenmenger Syndrome have an abnormally low blood pressure as a result of the reduced volume of blood pumped by the heart. Random contractions of the upper heart chamber causing an irregular, often rapid heart rate (atrial fibrillation), may also occur late in the course of the disorder. The blood pressure measured in the jugular vein is moderately raised. Medical examination usually reveals enlargement of the right ventricle and closure of the pulmonary valve. When a physician listens to the heart sounds of a patient with Eisenmenger Syndrome, signs of high blood pressure in the pulmonary arteries may be identified through the following clues: 1. A right atrial fourth sound reflecting enlargement (hypertrophy) of the right atrium. 2. A high-pitched clicking sound may occur during contraction of the heart (pulmonary ejection click), and a periodic murmur reflecting a widened pulmonary artery. 3. A loud pulmonary second sound may be transmitted to the tip (apex) of the heart caused by high blood pressure closing the valve forcibly. 4. A regurgitant murmur during relaxation (diastole) of the heart, down the left edge of the breast bone (sternum) may result from backflow of blood from the pulmonary arteries (pulmonary incompetence). 5. A heart murmur may occur throughout the period of contraction of the heart (pansystolic murmur) caused by incomplete closure of the tricuspid valve. (This valve normally permits blood flow from the right atrium to the right ventricle and not in the other direction.) Failure of the right heart ventricle to pump blood properly is characterized by breathlessness and water retention in body tissues which often results in swelling (edema). Expectoration of blood (hemoptysis) may occur in advanced stages of Eisenmenger Syndrome. Chest X-rays may show enlarged pulmonary arteries close to the lungs and insufficient levels of blood (ischemia) in vessels farther from the lungs. The right upper heart chamber (atrium) may become enlarged with time. Tissue death due to lack of blood and oxygen in the lungs (pulmonary infarction) is usually caused by an obstruction (embolus) in a pulmonary vessel. This may occur during late stages of the disorder. These changes may be detected by an electrocardiogram (ECG). Causes Eisenmenger Syndrome is a defective development of the fetal heart during pregnancy, possibly occurring during the first trimester. Scientists do not know the exact cause of this birth defect. Affected Population Eisenmenger Syndrome affects males and females in equal numbers. Related Disorders Symptoms of the following disorder may be similar to Eisenmenger Syndrome. Comparisons can be useful for a differential diagnosis: Primary Pulmonary Hypertension is a condition characterized by high blood pressure caused by obstruction of branches of the pulmonary artery between the lung and the heart. Symptoms of this condition include difficulty breathing (dyspnea) after strenuous exercise, feelings of fatigue and weakness. Therapies: Standard Treatment of Eisenmenger Syndrome is symptomatic and supportive. No specific treatment is available to lower the pulmonary vascular resistance that builds up between the heart and lungs. Once a left to right blood flow has been established, surgical repair of the opening between the right and left ventricles is usually not advisable because this might create symptoms similar to primary pulmonary hypertension. Anticlotting (anticoagulant) drugs should be avoided because of the risk of bleeding in the lungs. Therapies: Investigational Combined heart and lung transplantation has been performed on patients with Eisenmenger Syndrome with a 70% success rate. However, this procedure should be attempted only in the most serious cases. This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Eisenmenger Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ABNORMAL ARCHITECTURE OF THE VENTRICLES IN HEARTS WITH AN OVERRIDING AORTIC VALVE AND A PERIMEMBRANOUS VENTRICULAR SEPTAL DEFECT ("EISENMENGER VSD"): A. Oppenheimer-Dekker, et al.; International Journal Cardiol (November 1985: issue 9,3). Pp. 341-355. COMBINED HEART AND LUNG TRANSPLANTATION: S. W. Jamieson et al.; Lancet (May 21, 1983: issue 1 (8334)). Pp. 1130-1132. EISENMENGER'S SYNDROME AND PREGNANCY: S. Lieber, et al.; Acta Cardiol (Brux) (1985: issue 40,4). Pp. 421-424. Eisenmenger SyndromeC! F!pagetitle 426: Eisenmenger Syndrome 03698.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 689: Elephantiasis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Elephantiasis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Elephantitis Information on the following diseases can be found in the Related Disorders section of this report: Lymphedema, Hereditary Lymphedema, Secondary Filariasis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Elefantiasis is a rare disorder of the lymphatic system. Inflammation of the lymphatic vessels causes extreme enlargement of the affected area, most commonly a limb or parts of the head and torso. It occurs most commonly in tropical regions and particularly in parts of Africa. Symptoms Elephantiasis is characterized by the gross enlargement of a limb or areas of the trunk or head. There is an abnormal accumulation of watery fluid in the tissues (edema) causing severe swelling. The skin usually develops a thickened, pebbly appearance and may become ulcerated and darkened. Fever, chills and a general feeling of ill health (malaise) may be present. Elephantiasis may also affect the male and female genital organs. In a male, there may be enlargement of the scrotum, and the penis may be retracted under skin which has become thickened, nonelastic, hot and painful. The spermatic cords may become thickened. The external parts of the female genital organs (vulva) may also be affected by elephantiasis. A long, tumorous mass covered by thickened and ulcerated skin may develop between the thighs. There may also be an enlargement of the lymph nodes of the legs. Causes The extreme enlargement of the limbs and other areas of the body characterized by elephantiasis, is the result of obstruction of the lymph flow and possibly of blood circulation. The lymphatic blockage can be due to recurrent attacks of a bacterial infection which causes inflammation of the lymphatic vessels (streptococcal lymphangitis). When the lymphatic obstruction is large enough, back pressure in the lymphatic channels produces dilation of the superficial vessels, resulting in extreme swelling. Without medical intervention, the cycle continues until the affected area is grotesquely enlarged. Death of surrounding tissues may also occur from an obstructed blood supply (gangrene). Recent studies have shown that a possible cause of elephantiasis in Africa may be related to the red soil on which certain barefooted populations live. It is believed that small chemical particles found in the soil may enter the skin through the bare feet. These particles then lodge in the lymphatic tissues and produce irritating effects. The traumatized tissue is then vulnerable to streptococcal infection. Affected Population Elephantiasis is most commonly found in African nations. Related Disorders Hereditary Lymphedema is a genetic disorder of the lymphatic system. Major symptoms may include swelling of the tissue under the skin resulting from obstruction, destruction or underdevelopment of lymph vessels and accumulation of excessive lymph fluid. For more information on this disorder, choose "Hereditary Lymphedema" as your search term in the Rare Disease Database. Secondary Lymphedema is a disorder of the lymphatic system resulting from infection. Symptoms may include sudden onset, chills, high fever and the presence of a red, hot, swollen leg. Filariasis is a disorder spread to man by mosquito bite. Major symptoms may include chills, fever, headache and elephantiasis. For more information on this disorder, choose "Filariasis" as a search term in the Rare Disease Database. Therapies: Standard Treatment of elefantiasis usually involves surgery to remove excess skin. In extreme cases, the amputation of an entire limb may be necessary. In cases where the male genitals have been affected, reconstructive surgery on the penis and scrotum has been successful. Anti-streptococcal antibiotics are used to relieve infection. Lymphatic tissue is removed by surgery or radiation therapy. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Elephantiasis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 329-3534 References THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D. ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 372. ELEPHANTIASIS NOSTRAS: AN EIGHT-YEAR OBSERVATION OF PROGRESSIVE NONFILARIAL ELEPHANTIASIS OF THE LOWER EXTREMITY. L.J. Sanders et al.; CUTIS (Nov. 1988; 42(5)). Pp. 406-411. ELEPHANTIASIS NOSTRAS--A CASE REPORT: S.A. Baughman et al.; ANGIOLOGY (Feb. 1988 39(2)). Pp. 164-168. Elephantiasis pagetitle 689: Elephantiasis 03699.TXT !Copyright (C) 1992 National Organization for Rare Disorders, Inc. 902: Ellis-Van Creveld Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Ellis-Van Creveld Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Chondroectodermal Dysplasia Mesoectodermal Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Ectodermal Dysplasias General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ellis-Van Creveld Syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. This disorder is inherited through an autosomal recessive trait. Symptoms Patients with Ellis-Van Creveld Syndrome typically have arrested growth of the long bones and a condition of stocky dwarfism. The arms and legs are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with Ellis-Van Creveld Syndrome. Underdeveloped fingernails, a partial cleft lip, teeth at birth that erupt and shed very early, knock-knees and abnormalities of the bones in the wrist are all features of this disorder. More than fifty percent of the patients with Ellis-Van Creveld Syndrome are born with malformations of the heart. In the majority of cases there is an abnormal opening in the wall between the two upper heart chambers (atrial septal defect). A small number of patients with this disorder are born with one of the chambers of the heart missing. Other features that have been found in a few patients with Ellis-Van Creveld Syndrome are: Dandy-Walker Malformation - a hereditary disorder characterized by developmental malformations caused by cysts on the fourth ventricle in the brain. Cerebrospinal fluid accumulates in this ventricle causing the head to become enlarged (hydrocephalus) due to excessive pressure. (For more information on this disorder choose "Dandy-Walker" as your search term in the Rare Disease Database). Epispadias - a birth defect in boys in which the urine canal opens on the underside of the penis. Cryptorchidism - failure of one or both of the testicles to move down into the scrotum. Talipes Equinovarus - a condition in which the front half of the foot turns in and down (clubfoot). Mental retardation, scant or fine hair and/or failure of a kidney to develop (renal agenesis). Causes Ellis-Van Creveld Syndrome is inherited through an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Ellis-Van Creveld Syndrome affects males and females in equal numbers. More than 100 cases of Ellis-Van Creveld Syndrome have been found among the Old Order Amish in Lancaster County, Pennsylvania. Ellis-Van Creveld Syndrome has been reported in many other ethnic groups but is very rare. Related Disorders Symptoms of the following disorder can be similar to those of Ellis-Van Creveld Syndrome. Comparisons may be useful for a differential diagnosis: Ectodermal Dysplasias are a group of hereditary, nonprogressive syndromes in which the affected tissue derives primarily from ectodermal germ layer. Symptoms of this disorder include eczema, poorly functioning sweat glands, sparse or absent hair follicles, abnormal hair, disfigured nails, and difficulties with the nasal passages and ear canals. Skin is satiny smooth, prone to rashes, and slow to heal. Commonly, the teeth fail to develop properly. Other complications may include hearing deficit, loss of sight, mental retardation, limb abnormalities, cleft palate and lip, and urinary tract anomalies. (For more information on this disorder, choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Ellis-Van Creveld Syndrome is directed at symptoms. Surgery may be used to correct the knock-knees (genu valgum), partial cleft palate, and the extra digits on the hands and/or feet. Patients with the atrial septal defect may have surgery to close the hole in the wall between the two upper heart chambers. Treatment for patients with Dandy-Walker Syndrome consists of surgically performing combined shunt procedures to the posterior ridge cyst and the lateral ventricles, draining excess fluid from the inside of the brain. Patients with mental retardation may benefit from special education. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of birth defects in the future. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ellis-Van Creveld Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 NIH/National Institute of Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301 496-5133 Parents of Dwarfed Children 11524 Colt Terr. Silver Spring, MD 20902 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1161-62. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 324. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 322-23. ELLIS-VAN CREVELD SYNDROME: REPORT OF 15 CASES IN AN INBRED KINDRED: E.O. da Silva, et al.; J Med Genet (October 1980, issue 17(5)). Pp. 349-56. BRIEF CLINICAL REPORT: CONDROECTODERMAL DYSPLASIA (ELLIS-VAN CREVELD) WITH ANOMALIES OF CNS AND URINARY TRACT: S. Rosemberg, et al.; Am J Med Genet (June 1983, issue 15(2)). Pp. 291-5. DANDY-WALKER MALFORMATION IN ELLIS-VAN CREVELD SYNDROME: K.M. Zangwill, et al.; Am J Med Genet (September 1988, issue 31(1)). Pp. 123-9. Ellis-Van Creveld Syndrome)" ,"pagetitle 902: Ellis-Van Creveld Syndrome 03700.TXT ,Copyright (C) 1992 National Organization for Rare Disorders, Inc. 922: Emphysema, Congenital Lobar _________________________ ** IMPORTANT ** It is possible that the main title of the article (Congenital Lobar Emphysema) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Emphysema, Localized Congenital Lobar Emphysema, Infantile Lobar Tension Emphysema in Infancy Congenital Pulmonary Emphysema CLE Information on the following diseases can be found in the Related Disorders section of this report: Respiratory Distress Syndrome, Infant Bronchial Asthma Pneumonia Interstitial Pneumonia Secondary Pulmonary Hypertension Cor Pulmonale Alpha-1-Antitrypsin Deficiency General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Lobar Emphysema is a respiratory disorder of varying degrees of severity which allows air to enter the lungs but not to escape. It is sometimes apparent at birth or shortly after birth. In others it doesn't become apparent until adulthood or may not cause any breathing difficulties at all. It may be so severe as to cause associated heart problems or be so mild as to never become apparent. Congenital Lobar Emphysema may be caused by hereditary transmission or occur for no apparent reason. Symptoms Congenital Lobar Emphysema is characterized by difficulty breathing, an enlarged chest area over the affected lobe of the lung and displacement of the space in the lung section nearest to the diseased lobe. The infant may have more severe difficulty breathing when a cold or respiratory infection occurs, when he is trying to eat, or when crying. The disorder most often affects the left side of the lung in the upper lobe. The second most often affected section of the lung is the middle right lobe. There may be an absence of bronchial cartilage, or too much connective tissue within the lung. The lung tissue may be very fragile and it may collapse easily. Causes Congenital Lobar Emphysema may result from unknown causes or it may be caused by inherited genes. Many cases are sporadic, (unknown causes) however, some are inherited by autosomal recessive genes and in at least one case autosomal dominant genes. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Congenital Lobar Emphysema is a very rare disorder that affects males and females in equal numbers. It is usually apparent at birth or shortly after, however, it may not become apparent until later in life if at all. Related Disorders Symptoms of the following disorders can be similar to those of Congenital Lobar Emphysema. Comparisons may be useful for a differential diagnosis: Respiratory Distress Syndrome of the Infant, also called Hyaline Membrane Disease of the Newborn, is characterized by respiratory distress seen especially in premature babies. A clear membrane is found lining the sack like spaces (alveolar) in the lungs and is associated with reduced amounts of lung wetting agents or emulsifier (surfactant). The surfactant is a lipoprotein that stabilizes alveolar volume. When this surfactant is missing the affected infant must be placed on some type of ventilator. Recently new drugs have become available to aid the infant in breathing; Surfactant TA and Human Surf. (For more information on this disorder, choose "Infant Respiratory Distress Syndrome" as your search term in the Rare Disease Database). Bronchial Asthma is a common respiratory disease marked by many different causes, airway irritability, and airway inflammation. Most of these problems are treatable. Asthma affects 2 to 6 percent of the United States population. It usually begins before the age of ten in about one-half of all patients and occurs twice as often in males as in females. Pneumonia is an infection of the lungs. Symptoms such as fever, cough, large amounts of mucous production (sputum), fluid in the space surrounding the lungs (pleurisy) and/or chills occur. Chest pain, headache, diarrhea, sore throat and fever blisters may also develop. Shortness of breath, difficulty in breathing, decreased exercise tolerance and night sweats are characteristic. Pneumonia frequently occurs in middle-aged to older adults with various underlying diseases. However, it can occur in persons of all ages, statistically most often in winter and early spring. Pneumonia can be caused by various bacteria, viruses, and other infectious agents. Interstitial Pneumonia is a type of primary pneumonia. It involves the spaces and tissues in the lining of the lungs with abnormal increases in these tissues. Major symptoms may include shortness of breath on exertion, coughing and loss of appetite. The symptoms may vary from mild to severe according to the extent of involvement. The patient usually has no fever, and there is usually not an overproduction of mucous. (For more information on this disorder, choose "Interstitial Pneumonia" as your search term in the Rare Disease Database). Secondary Pulmonary Hypertension is a disorder of the lungs. It rarely occurs on its own and is usually the result of other lung disease or related diseases in other organs. This disorder is characterized by breathing difficulties, especially after exertion. (For more information on this disorder, choose "Secondary Pulmonary Hypertension" as your search term in the Rare Disease Database). Cor Pulmonale is a term that denotes enlargement of the right ventricle of the heart that occurs as a result of severe lung disease. It is used as a term for pulmonary heart disease which affects both the heart and lungs. A common cause of Cor Pulmonale is massive clotting in the lungs which results in increased pressure in the right ventricle of the heart, usually resulting in heart failure. Other causes may be chronic bronchitis, emphysema, and extensive loss of lung tissue from surgery or injury. Symptoms usually include enlargement of the right side of the heart, difficulty breathing, fainting spells on exertion, and substernal angina pain in the chest. (For more information on this disorder, choose "Cor Pulmonale" as your search term in the Rare Disease Database). Alpha-1-Antitrypsin Deficiency is characterized by early development of breathing difficulties (Panacinar Emphysema, affecting the whole lung equally). Breathing becomes more and more difficult as lung tissue is destroyed by the overproduction of trypsin. Shortness of breath, chronic cough and frequent lung infections are usually the earliest symptoms. In severe cases symptoms may be present in early childhood or appear in the twenties. Less severe deficiencies of Alpha-1-Antitrypsin may not cause symptoms until the fifties or sixties. (For more information on this disorder, choose "Alpha-1-Antitrypsin Deficiency" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Congenital Lobar Emphysema depends on the condition of the patient at the time of diagnosis. When the disease effect is less serious it may not cause any adverse effects. However, when the condition is seriously affecting the patients ability to breathe the usual treatment is the surgical removal of the affected lobe of the lung or the whole affected side of the pair of lungs. The extent of disease is usually determined by use of computed tomography (CAT SCAN) and radionuclide V/Q scans. The V/Q scans can determine exactly which part of the lung and which lobe of the lung is affected and to what degree. Lung function tests are also valuable studies in helping the doctor determine exactly which part of the lung is affected and if surgery is necessary. Therapies: Investigational Investigational Treatment of Congenital Lobar Emphysema with the orphan drug alpha 1-proteinase inhibitor 2,3 (Prolastin) is being studied. The product is manufactured by Cutter Biological a division of Miles Labs. Further studies are necessary to determine the long-term safety and effectiveness of this therapy. This disease entry is based upon medical information available through July 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Lobar Emphysema, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute (NHBLI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 294, 1238. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1083-1084. PULMONARY DISEASES AND DISORDERS, 2nd Ed.; Alfred P. Fishman, M.D., Editor; McGraw-Hill Book Company, 1988. Pp. 1259-1269. CONGENITAL LOBAR EMPHYSEMA, Lacquet, L.K., et al.; Prog Pediatr Surg, 1977, (issue 10). Pp. 307-320. CONGENITAL LOBAR EMPHYSEMA. THE ROLES OF CA AND V/Q SCAN., Markowitz, R.I., et al.; Clin Pediatr, January 1989, (issue 28 (1)). Pp. 19-23. Emphysema, Congenital Lobar -pagetitle 922: Emphysema, Congenital Lobar 03701.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 635: Empty Sella Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of this article (Empty Sella Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Empty Sella Turcica Information on the following disorders can be found in the Related Disorders section of this report: Achard-Thiers Syndrome Craniopharyngioma Meningioma of the Tuberculum Sella Optic Glioma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Empty Sella Syndrome is a genetic brain disorder transmitted through autosomal dominant genes. The disorder is characterized by an empty space filled with cerebrospinal fluid in the "sella turcica" area of the brain. The area fills with fluid as a result of a defect in the sella diaphragm. This disorder affects mostly obese, middle-aged women. Primary and a secondary types of the disorder are distinguished by the exact cause. Symptoms Empty Sella Syndrome is characterized by attacks of unconsciousness (syncope), recurrent headaches in the forehead and temple areas, impairment of vision, obesity, and diabetes mellitus. Abnormally elevated blood pressure (hypertension), and intolerance to cold usually also occur. Enlarged hands and feet, discharge of cerebrospinal fluid through the nose, excessive body hair (hirsutism) in women, and unusual sexual features in men may occur including a lower than normal sex drive and excessive development of male breast tissue (gynecomastia). Causes In the primary form Empty Sella Syndrome is inherited through autosomal dominant genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.) Secondary Empty Sella Syndrome may have various causes: The empty sella may be a birth defect; it may be caused by a pituitary cyst or tumor (adenoma); radiation of the pituitary gland; surgical removal of a pituitary tumor or of the whole pituitary (hypophyseal) gland. Affected Population Empty Sella Syndrome is a rare disorder that rarely affects males. It usually affects overweight middle-aged women, but in very rare cases it may be found in children. Related Disorders Symptoms of the following disorders can be similar to those of Empty Sella Syndrome. Comparisons may be useful for a differential diagnosis: Achard-Thiers Syndrome is characterized by diabetes associated with male characteristics (virilization) in post-menopausal women. The adrenal gland's overproduction of male hormones (androgens) and other adrenocortical hormones causes the syndrome. Untreated, the disorder may occasionally lead to excessively high blood pressure (hypertension) and/or coronary artery disease. (For more information, choose "Achard" as your search term in the Rare Disease Database.) Craniopharyngiomas are derived from Rathke's pouch inside the brain and usually develop in a location above the sella turcica. These pouchlike (cystic) tumors can invade the hypothalamus; extend into and erode the sella turcica; and invade the third ventricle of the brain, producing obstructive hydrocephalus (water on the brain). This results in excessive pressure inside the skull with swelling of the optic disk (papilledema). Craniopharyngiomas may also involve the optic nerve and cause visual field abnormalities. The cyst fluid may accumulate and cause rapid enlargement of the cyst and progressive symptoms. Diabetes insipidus is initially present in 15 percent of patients and almost invariably follows attempted surgical removal of the tumor. Anterior pituitary hormone deficiency occurs. Craniopharyngiomas often occur during childhood and have a peak incidence during the second decade of life. Meningiomas are benign, slow-growing tumors, classified as brain tumors, but actually growing in the protective membranes that surround the brain (meninges). Sometimes they cause thickening or thinning of adjoining skull bones. Meningiomas do not spread to other areas of the body. Symptoms vary according to the size and location of the tumor. (For more information, choose "Meningioma" as your search term in the Rare Disease Database.) Optic Glioma is a slow-growing tumor of the optic nerve or optic chiasm, usually occurring in children. It is characterized by visual loss in one eye, often with secondary strabismus (eyes not looking in parallel directions), followed by bulging of the eye (proptosis) and loss of eye movement. This tumor occasionally extends to the third ventricle of the brain. Therapies: Standard Empty Sella Syndrome is diagnosed by testing hormone levels, neurological tests and CT (computed tomography) scanning. Treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Empty Sella Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE "EMPTY SELLA" IN CHILDHOOD: D.C. Costigan, et al.; Clin Pediatr (Phila) (August 1984: issue 23(8)). Pp. 437-440. SUBARACHNOID HEMORRHAGE WITH NORMAL CEREBRAL ANGIOGRAPHY: A PROSPECTIVE STUDY ON SELLAR ABNORMALITIES AND PITUITARY FUNCTION: P. Bjerre, et al.; Neurosurgery (December 1986: issue 19(6)). Pp. 1012-1015. MRI AND CT OF SELLAR AND PARASELLAR DISORDERS: M.H. Naheedy, et al.; Radiol Clin North America (July 1987: issue 25(4)). Pp. 819-847. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1988. P. 226. Empty Sella Syndrome pagetitle 635: Empty Sella Syndrome 03702.TXT Copyright (C) 1987, 1989, 1990, 1991 National Organization for Rare Disorders, Inc. 376: Encephalitis, Herpetic _________________________ ** IMPORTANT ** It is possible the main title of the article (Herpetic Encephalitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Herpes Encephalitis Herpes Simplex Encephalitis Herpetic Meningoencephalitis Herpetic Brainstem Encephalitis Information on the following disease can be found in the Related Disorders section of this report: Meningitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Encephalitis is a central nervous system infection. Herpetic Encephalitis is caused by a virus known as Herpes Simplex Virus. Primary symptoms include headache, drowsiness, hyperactivity and/or general weakness. This disorder may have some similar symptoms to Meningitis such as a stiff neck, altered reflexes, confusion, possible paralysis and/or speech disorders. Skin lesions usually are not found. Symptoms Herpes Encephalitis usually begins without warning. Headaches and possible seizures are the primary symptoms. Drowsiness with general weakness, hyperactivity or psychotic behavior may then occur. Some symptoms of Herpes Encephalitis may mimic Meningitis. These may include a stiff neck, altered reflexes, confusion, speech disorders, possible convulsions and paralysis. In more serious cases, patients may become comatose. Causes Herpes Encephalitis is a sporadic viral infection caused by a complication of the Herpes Simplex Virus. Herpes Simplex Infection is an acute viral disease usually spread from person to person. It is marked by small fluid-filled blisters appearing on the lips or genitals often accompanied by fever. Precipitating factors may include the common cold, emotional disturbances, sunburn or skin abrasions. This virus may become immediately active, or stay in the body for some time in a latent state, after which it may reactivate. Affected Population Herpes Encephalitis usually occurs during early childhood or adulthood. It affects males and females in equal numbers. Related Disorders There are many types of human and animal encephalitis. These differ in causes, parts of the body affected, degree of severity and areas of the world where they occur. The symptoms of these disorders may also overlap with or resemble other infectious disorders. Basically, encephalitis is an infection that causes inflammation of the brain. Meningitis involves inflammation of the membranes surrounding the brain and spinal cord. There are many types of Meningitis, caused by many different infectious agents. The infection can range from mild to severe. Meningitis may also accompany other infections such as Herpes Encephalitis. Another drug being used to treat Herpes Encephalitis is Zovirax (aciclovir). It is manufactured by Burroughs-Wellcome. Therapies: Standard In some cases, early treatment of Herpes Encephalitis with the antiviral drug vidarabine may provide dramatic improvement. It may also help to prevent recurrences of the disorder. However, this drug may not benefit patients in advanced stages of the infection. Antiviral therapy should be started as soon as a Herpes simplex encephalitis is suspected. Usually, this therapy will not interfere with diagnostic procedures to identify other suspected disorders. Therapies: Investigational Medical researchers are investigating use of several new antiviral drugs to treat Herpes Encephalitis. The use of these drugs is still under investigation to determine long-term effectiveness and possible side effects. Clinical trials are being conducted on the experimental drug Arabinosyl adenine (Ara-A) for treatment of Herpes Encephalitis. This drug has not been officially designated an Orphan Drug by the Food and Drug Administration (FDA) because the manufacturer/developer has not yet applied for financial incentives under the Orphan Drug Act. For additional information, physicians can contact: Ives Laboratories Professional Service P.O. Box 8299 Philadelphia, PA 19101 The drug PR-225 (Redox Acyclovir), manufactured by Pharmatec Inc., has received new orphan drug designation by the FDA for treatment of Herpes Simplex Encephalitis in AIDS patients. For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through November 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Herpes Encephalitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References HERPETIC ENCEPHALITIS: PROGNOSTIC ELEMENTS IN ADULTS AND CHILDREN (49 CASES): A. Foucher, et. al.; Rev Electroencephalogr Neurophysiol Clin (Sept. 1985, issue 15(2)). Pp. 185-193. OCULAR INFECTION WITH HERPES SIMPLEX VIRUS TYPE 1: PREVENTION OF ACUTE HERPETIC ENCEPHALITIS BY SYSTEMIC ADMINISTRATION OF VIRUS-SPECIFIC ANTIBODY: W.B. Taylor, et al.; J Infect Dis (October 1979, issue 140(4)). Pp. 534-540. Encephalitis, Herpetic% pagetitle 376: Encephalitis, Herpetic 03703.TXT Copyright (C) 1987, 1989, 1993 National Organization for Rare Disorders, Inc. 435: Encephalitis, Japanese _________________________ ** IMPORTANT ** It is possible the main title of the article (Japanese Encephalitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms JE Japanese B Encephalitis Russian Autumnal Encephalitis Summer Encephalitis Information on the following diseases can be found in the Related Disorders section of this report: Murray Valley Encephalitis Saint Louis Encephalitis West Nile Encephalitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Japanese Encephalitis is a severe viral infection which causes inflammation of the brain. The Japanese B Encephalitis Virus is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurological damage or death. Symptoms Japanese Encephalitis is characterized by high fever, headaches, weakness, nausea, vomiting, mental deterioration, personality changes, psychoses, impaired speech, spastic rigidity, and paralysis of the face or extremities. In adults, paralysis may occur on both sides of the body without altered sensation. The duration of symptoms can vary widely and convalescence may be prolonged. The brain is affected by swelling and small areas of bleeding. Atrophy of brain and nerve cells may also occur. The immune system is also weakened by the virus, possibly making the patient vulnerable to more serious infections. Causes Japanese Encephalitis is caused by the virus known as Arbovirus Japanese B, transmitted through the bite of infected mosquitoes. Symptoms occur as the virus directly invades the central nervous system causing selective infection, destruction of nerve cells, and weakening of the immune system. Affected Population Japanese Encephalitis occurs in approximately 20,000 people each year. The disorder erupts in the form of epidemics usually during the summer months in India, Bangladesh, the eastern part of Russia, China, Korea, Nepal, Burma, Viet Nam, and northern Thailand. In tropical areas of southeast Asia, southern India, southern Thailand, and Sri Lanka, the disease is present year-round and causes sporadic outbreaks. During the tropical rainy season, the illness can be transmitted in epidemic proportions. Related Disorders Symptoms of the following disorders can be similar to those of Japanese Encephalitis. Comparisons may be useful for a differential diagnosis: Murray Valley Encephalitis is also known as Australian X Disease and is characterized by severe brain inflammation. The virus which causes this disorder is related to the Japanese B virus and is transmitted from mosquitoes to birds to other mosquitoes. Cases among children tend to be most severe. The first noticeable symptoms may be headache, fever, a general feeling of discomfort, drowsiness and/or convulsions, and a stiff neck. Extensive brain damage may result. Saint Louis Encephalitis is characterized by less severe inflammation of the brain and the sheath surrounding the brain and spinal cord. Group B Arbovirus causes this type of Encephalitis in sporadic outbreaks in urban areas of Missouri, Arizona, Colorado, Nevada, Texas, Indiana, Illinois, Kentucky, Florida, New Jersey, Pennsylvania, and the Ohio Valley. This disorder tends to be more prevalent during midsummer to early fall. High fever, headache, nausea, vomiting, tiredness, dizziness, neck stiffness, irritability, confusion, and speech problems may occur. West Nile Encephalitis is also known as West Nile Fever and is characterized by severe headaches, high fever, enlargement of the lymph nodes, and inflammation of the sheath surrounding the brain and spinal cord. Inflammation of the spinal cord may also occur. Symptoms of this disorder may last only a few weeks, but it may cause permanent neurological damage. Therapies: Standard In Asian nations, vaccinations are available for preventing Japanese Encephalitis. American travelers to areas at risk can obtain the vaccination in the United States. High risk areas include India, Bangladesh, the eastern part of Russia, China, Korea, Nepal, Burma, Viet Nam, northern Thailand, tropical areas of southeast Asia, southern India, southern Thailand, and Sri Lanka. The vaccine is manufactured by Connaught Labs, Swiftwater, PA. People traveling to rural areas of Asia should schedule the series of injections several weeks before travel. Short-term travelers to Asian urban centers are at low risk to contract this disorder. The mosquitoes which transmit the virus are most active at dawn, dusk, and on overcast days, but feed mostly around sunset. They appear in the greatest numbers in rural areas where water is standing. Precautions against mosquito bites such as sleeping in screened quarters under mosquito netting, wearing clothing that adequately covers the skin, and using insect repellents on exposed skin are also advised. Repellents containing over thirty percent active ingredient N,N-diethyl-meta-toluamide ("deet") are recommended. Therapies: Investigational Research on the antiviral inducing chemical known as carboxymethylacridanone (CMA), is underway to determine it's action against the Japanese Encephalitis virus. It has shown possible benefits against infection in laboratory animals. More investigation is needed before the treatment can be recommended for use in humans. This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Japanese Encephalitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 World Health Organization 525 23rd Street, NW Washington, DC 20037 (202) 861-3200 (202) 861-3305 (Library) References THE PATHOGENESIS OF ACUTE VIRAL ENCEPHALITIS AND POSTINFECTIOUS ENCEPHALOMYELITIS: R.T. Johnson; J Infect Dis (March 1987, issue 155(3)). Pp. 359-364. CLINICAL ASPECTS OF JAPANESE B ENCEPHALITIS IN NORTH VIETNAM: D.H. Le; Clin Neurol Neurosurg (1986, issue 88(3)). Pp. 189-192. TRIAL OF INACTIVATED JAPANESE ENCEPHALITIS VACCINE IN CHILDREN WITH UNDERLYING DISEASES: A. Yamada, et al.; Vaccine (March 1986, issue 4(1)). Pp. 32-34. Encephalitis, JapaneseE pagetitle 435: Encephalitis, Japanese 03704.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 415: Encephalitis, Rasmussen's _________________________ ** IMPORTANT ** It is possible the main title of the article (Rasmussen's Encephalitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Chronic Localized Encephalitis Chronic Encephalitis and Epilepsy Epilepsy, Hemiplegia and Mental Retardation Information on the following diseases can be found in the Related Disorders section of this report: Subacute Sclerosing Panencephalitis (SSPE) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Rasmussen's Encephalitis is a rare central nervous system disorder characterized by chronic active encephalitis (inflammation of the brain) and epileptic seizures of varying degrees of severity. Progressive symptoms including paralysis (usually of one side of the body) and mental retardation may also occur. Although the exact cause of this disorder is not known, it is thought to result from an unidentified viral infection. Symptoms Some cases of Rasmussen's Encephalitis are thought to follow inflammations or viral infections such as influenza, measles, etc. Epileptic seizures, usually mild, may be limited to certain areas of the body and may gradually spread and/or increase in severity. Encephalitis may not be diagnosed until post-mortem brain tissue is examined. Researchers believe the encephalitis may cause development of the seizures. Additionally paralysis which is usually limited to one side of the body, and mental retardation, often begin during early childhood and tend to progress over time. Causes The exact cause of Rasmussen's Encephalitis is not known. Some researchers believe it may result from an unidentified viral infection or slow virus. Slow viruses may stay dormant in humans for extended periods of time, then for reasons yet unknown may unexplainably become reactivated. The role of heredity which may make a person susceptible to slow viruses is not well understood. Affected Population Rasmussen's Encephalitis affects males and females in equal numbers. It is a very rare neurological disorder. Less than thirty cases have been described in the medical literature since this disorder was first identified in 1958. Also, fifty patients were identified during surgery world wide as of the end of 1986. A few hundred cases may develop each year but may not be properly identified. Related Disorders Symptoms of the following disorder can be similar to Rasmussen's Encephalitis. Comparisons may be useful for a differential diagnosis: Subacute Sclerosing Panencephalitis (SSPE) is a progressive brain disorder usually occurring months to years after an attack of measles. It is characterized by mental deterioration, involuntary jerky movements, and seizures. This disorder usually begins before the age of twenty, and may first be noticed by deteriorating schoolwork and sluggishness. Forgetfulness, temper outbursts, distractibility, sleeplessness, hallucinations, sudden flexion movements of the extremities or head and trunk, and grand mal seizures may follow the behavioral changes. Symptoms often progress in severity. Possible complications include coma. In rare cases, some patients may have remissions. (For more information on Subacute Sclerosing Panencephalitis, choose "SSPE" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Rasmussen's Encephalitis is symptomatic and supportive. Social service agencies may be able to assist mentally retarded individuals and their families. Various medications may be used for control of seizures. Therapies: Investigational Brain surgery, known as hemispherectomy, for treatment of cases of Rasmussen's Encephalitis is being tested. In general, the portion of the brain affected by encephalitis is removed in an attempt to control chronic epileptic seizures and progressive neurological degeneration. More research is necessary before this drastic surgery may prove of benefit to those affected by this disorder. For more information, please contact: Dr. Ben Carson Chief of Pediatric Neurosurgery Children's Center Johns Hopkins Hospital Baltimore, MD 21205 This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Rasmussen's Encephalitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 Dr. Theodore Rasmussen Montreal Neurological Hospital 3801 University Street Montreal 112, Canada (514) 284-5804 Dr. Ben Carson Chief of Pediatric Neurosurgery Children's Center Johns Hopkins Hospital Baltimore, MD 21205 References FOCAL SEIZURES DUE TO CHRONIC LOCALIZED ENCEPHALITIS: T. Rasmussen, et al.; Neurology (June 1958, issue 8(6)). Pp. 435-445. FURTHER OBSERVATIONS ON THE SYNDROME OF CHRONIC ENCEPHALITIS AND EPILEPSY: T. Rasmussen; Applied Neurophysiology (1978, issue 41). Pp. 1-12. SMOLDERING ENCEPHALITIS IN CHILDREN: P.C. Gupta, et al.; Neuropediatrics (October 1984, issue 15(4)). Pp. 191-197. Encephalitis, Rasmussen's pagetitle 415: Encephalitis, Rasmussen's 03705.TXT +Copyright (C) 1992 National Organization for Rare Disorders, Inc. 867: Encephalocele _________________________ ** IMPORTANT ** It is possible that the main title of the article (Encephalocele) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Cephalocele Craniocele Cranium Bifidum Bifid Cranium Cranial Meningoencephalocele Information on the following diseases can be found in the Related Disorders section of this report: Anencephaly Hard plus/minus E Syndrome Hydrocephalus Meckel Syndrome Spina Bifida General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Encephalocele is a rare disorder in which an infant is born with a gap in the skull. The membranes that cover the brain (meninges), and brain tissue, protrude through this gap. This disorder is probably caused by failure of the neural tube to close during development of a fetus. Symptoms Encephalocele is characterized by a gap in the skull in which there is a protrusion of the membranes that cover the brain (meninges) and brain tissue. The protrusion is typically located along the midline of the bones that form the sides of the skull (parietal), or the cuplike bone at the back of the skull (occipital), or at the top of the nose between the eyes, or at the back of the head. When the encephalocele is not covered with skin, infection or swelling of the membranes covering the brain may occur. (For more information on infections of the brain choose "Meningitis" as your search term in the Rare Disease Database). Improper handling of encephaloceles located in the nasal area may also lead to meningitis. Patients with an encephalocele may develop hydrocephalus. Hydrocephalus is characterized by an excess of spinal fluid in the head causing pressure in the skull and widening of the ventricles (cerebral spaces) making the head unusually large. (For more information on this disorder choose "Hydrocephalus" as your search term in the Rare Disease Database). When an encephalocele is present on the back of the skull, it is often a part of a disorder known as Meckel Syndrome. Meckel Syndrome is a rare inherited disorder which includes congenital deformities of the brain resulting in mental retardation. (For more information on this disorder choose "Meckel" as your search term in the Rare Disease Database). Incomplete closure of the roof of the mouth (cleft lip and/or palate), or partial or complete absence of an area of the brain that connects the two cerebral hemispheres (Agenesis of Corpus Callosum) have also been associated with encephalocele. (For more information on these disorders choose "Cleft Lip and Cleft Palate" or "Agenesis of Corpus Callosum" as your search terms in the Rare Disease Database). Causes The exact cause of Encephalocele is not known. It is considered to be a birth defect. Failure of the tube of tissue that lies along the center of the early embryo (neural tube) to close properly during fetal growth probably causes the encephalocele to form. Encephalocele is one type of neural tube defect. The most well known neural tube defect is spina bifida. (For more information on this disorder choose "Spina Bifida" as your search term in the Rare Disease Database). The anticonvulsant drug valproic acid may cause neural tube defects when taken by a pregnant women. Affected Population Encephalocele is a rare neural tube defect that affects male and female infants in equal numbers. Encephalocele occurs in an estimated 1 out of every 2,000 live births. Ireland has the highest occurrence of encephalocele and Thailand has a high percentage of frontal encephaloceles. Related Disorders Encephalocele may be a component of, or similar to, the following disorders. Comparisons may be useful for a diagnosis: Anencephaly is a rare birth defect characterized by the absence of the two hemispheres of the brain. The absent brain tissue is sometimes replaced by abnormal cystic nerve tissue, which may be either exposed or covered with skin. Additionally, varying portions of the brainstem and spinal chord may be missing or malformed. This disorder can be inherited through autosomal recessive genes. (For more information on this disorder, choose "Anencephaly" as your search term in the Rare Disease Database). Hard plus/minus E Syndrome is an acronym for a combination of Hydrocephalus, Agyria (smooth brain), and Retinal Dysplasia (an eye condition). This disorder is also known as HARD Syndrome, Warburg Syndrome, Chemke Syndrome, Pagon Syndrome, Walker-Warburg Syndrome, Cerebroocular Dysgenesis, or COD. The "E" is for "encephalocele" when it occurs. Hydrocephalus is a disorder characterized by an unusually large head. It is caused by the abnormal dilation of the ventricles (cerebral spaces) in the brain and the obstruction of the spinal fluid passages (ventricular block) of the central nervous system. This accumulation of fluid puts excessive pressure on the tissues of the brain, and causes an enlargement of the head. Hydrocephalus may be congenital or acquired and if not treated early may cause brain damage. (For more information on this disorder, choose "Hydrocephalus" as your search term in the Rare Disease Database). Meckel Syndrome is a rare inherited syndrome. Major symptoms may include congenital deformities of the brain resulting in mental retardation. Malformations of the hands and feet, and bone deformities of the arms and legs may also occur. In males genitals may fail to develop properly. Kidney, pancreas and liver may also be abnormal. (For more information on this disorder, choose "Meckel" as your search term in the Rare Disease Database). Spina Bifida is a disorder in which there is an "open (or nonfused) spine." In spina bifida, one or more of the individual bones of the spine fail to close completely, leaving a cleft or defect in the spinal canal. Through such an abnormal opening, part of the contents of the spinal canal can protrude or herniate. The exact cause of spina bifida is not known. (For more information on this disorder choose "Spina Bifida" as your search term in the Rare Disease Database). Therapies: Standard Surgical closure of the encephalocele is normally performed as soon as possible. For Encephaloceles affecting the face, several plastic surgeries may be required over a period of time. When Hydrocephaly is also present the insertion of a shunt or tube into the head cavity drains the excess cerebrospinal fluid into a part of the body that can absorb it. In growing children the shunt may have to be lengthened periodically. When Bacterial Meningitis is present, it is usually treated with different types of antibiotics depending on the bacteria involved. The addition of the drug dexamethasone to the antibiotic treatment can be helpful in reducing meningeal inflammation. Therapies: Investigational Scientists are studying the causes of neural tube defects in an attempt to prevent them from occuring. Researchers funded by the March of Dimes have been studying the effects of drugs and chemicals on central nervous system development. They are studying how viruses, drugs, growth-promoters and other agents in the earliest stages of a baby's development may influence the way the nervous system grows. Other investigators are looking for ways to drain fluid from the brain without surgery. They also are studying biochemical changes in parts of the brain affected by hydrocephalus, with the hope of preventing possible brain damage. As a result of a large research project funded by the National Institutes of Health, which is studying 55,000 mothers and their offspring, conditions leading to abnormalities of the newborn are expected to be understood more clearly in the future. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Encephalocele, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Hydrocephalus Foundation 400 N. Michigan Ave., Suite 1102 Chicago, IL 60611-4102 Hydrocephalus Parent Support Group 225 Dickinson St., H-893 San Diego, CA 92103 Hydrocephalus Association 870 Market St., Suite 955 San Francisco, CA 94102 (415) 776-4713 Fighters for Encephaly Support 3032 Brereton Ave Pittsburgh, PA 15219 (412) 687-6437 National Craniofacial Foundation 3100 Carlisle St., Suite 215 Dallas, TX 75204 (800) 535-3643 (For neural tube defects affecting the face) Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 614-15. INTERIM CDC RECOMMENDATIONS FOR FOLIC ACID SUPPLEMENTATION FOR WOMEN- AUGUST 1991: Center for Disease Control; JAMA (September 4, 1991, issue 266(9)). Pp. 1191. NASAL MIDLINE MASSES IN INFANTS AND CHILDREN. DERMOIDS, ENCEPHALOCELES, AND GLIOMAS: A.S. Paller, et al.; Arch Dermatol (March, 1991, issue 127(3)). Pp. 362-6. SUBTORCULAR OCCIPITAL ENCEPHALOCELES. ANATOMICAL CONSIDERATIONS RELEVANT TO OPERATIVE MANAGEMENT: P.H. Chapman, et al.; J Neurosurg (September, 1989, issue 71(3)). Pp. 375-81. NASAL ENCEPHALOCELE: DEFINITIVE ONE-STAGE RECONSTRUCTION: L.A. Sargent et al.; J Neurosurg (April, 1988, issue 68(4)). Pp. 571-5. CEPHALOCELES: CLASSIFICATION, PATHOLOGY, AND MANAGEMENT: D.J. David et al.; World J Surgery (July-August, 1989, issue 13(4)). Pp. 349-57. Encephalocele ,pagetitle 867: Encephalocele 03706.TXT "Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 416: Encephalomyelitis, Myalgic _________________________ ** IMPORTANT ** It is possible the main title of the article (Myalgic Encephalomyelitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Epidemic Neuromyasthenia Iceland Disease Akureyri Disease Benign Myalgic Encephalomyelitis Epidemic Myalgic Encephalomyelitis Royal Free Disease Tapanui Flu Raphe Nucleus Encephalopathy Information on the following diseases can be found in the Related Disorders section of this report: Chronic Epstein-Barr Virus Infection Multiple Sclerosis Polymyalgia Rheumatica General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Myalgic Encephalomyelitis is thought to be an infectious disorder affecting the central, peripheral and autonomic nervous systems and the muscles. Major symptoms may include general exhaustion, headache, muscle pain, weakness, and possible mental changes. The exact cause of this disorder is not known, but researchers believe a virus associated with an immune system abnormality may be responsible. Adults are most commonly affected, with more cases seen in females than in males. Epidemics of Myalgic Encephalomyelitis have occurred worldwide, but cases tend to appear sporadically. Symptoms can resolve in a few weeks but may recur at any time. Other cases may persist for many years. Symptoms Symptoms of Myalgic Encephalomyelitis are thought to include a preliminary stage consisting of headache, abnormal tiredness, sore throat, coughing, diarrhea or vomiting, a general feeling of ill health, and/or depression. This stage can last from one to three weeks. Pain in the neck, back, arms, legs or major joints, muscle tenderness and neck or back stiffness may initially occur as localized symptoms. A low fever or subnormal body temperature may develop. Symptoms such as unstable emotions, poor memory, depression, and difficulty in concentrating may be present. Unusual skin sensations, disease of the lymph nodes, liver enlargement, increased tendon reflexes, muscle twitching, sensory loss, abnormal foot muscle contraction, eye inflammations, mild vision disturbances, cranial nerve paralysis, urine retention and respiratory problems may also occur. Strenuous exercise or emotional stress may cause symptoms to become more severe. Nerve pain may subside after several days. Pain in the muscles and joints may persist and/or recur for months or years. Causes The exact cause of Myalgic Encephalomyelitis is not known. Researchers believe the disorder may be caused by a viral infection in association with an immune system abnormality. Although the Epstein-Barr Virus is suspected to be implicated in this disorder, scientists have not yet proven a relationship between onset of Myalgic Encephalomyelitis and the Epstein-Barr Virus. Affected Population Myalgic Encephalomyelitis appears to affect adults almost exclusively and it occurs more often in females than in males. Related Disorders Symptoms of the following disorders can be similar to Myalgic Encephalomyelitis. Comparisons may be useful for a differential diagnosis: Chronic Epstein-Barr Virus Infection is caused by the same virus that causes Infectious Mononucleosis. Although all individuals who become infected with EBV remain so for the rest of their lives, in most people, the virus becomes and stays inactive when the patient recovers from the initial bout of illness. In Chronic EBV infection (CEBV), however, the virus fails to become inactive or is periodically reactivated, so that the patient is chronically or recurrently ill. Medical researchers do not understand the reason for this. Both the nature and the severity of symptoms vary from patient to patient. CEBV can be debilitating, but is not necessarily so. (For more information on Chronic Epstein-Barr Virus Infection, choose "CEBV" as your search term in the Rare Disease Database). Multiple Sclerosis (MS) is a chronic disorder of the central nervous system which may be progressive, relapsing and remitting, or stable. This disorder is characterized by lesions that may form randomly throughout the brain and spinal cord. These lesions may prevent proper transmission of nerve signals and thus result in a variety of neurological symptoms. Mobility may be impaired and other symptoms such as vision difficulties, speech impairment, abnormal skin sensations and bowel and/or bladder control problems may occur. The exact cause of MS is not known, although researchers believe it may be caused by either an immune system abnormality, or a virus triggered early in life. (For more information on Multiple Sclerosis, choose "MS" as your search term in the Rare Disease Database). Polymyalgia Rheumatica is a disorder characterized by pain and stiffness in certain muscle groups without causing permanent weakness or atrophy. Symptoms appear quickly and may be most severe in the mornings. Mobility may become impaired after long periods of sitting still. Pain on both sides of the body may develop, and symptoms such as fever, loss of appetite, fatigue, weight loss and depression may occur. Despite severe pain, the muscles may not show any abnormality upon examination. A form of anemia may also be present in some patients. (For more information on Polymyalgia Rheumatica, choose "Polymyalgia Rheumatica" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Myalgic Encephalomyelitis may be delayed by the difficulty in diagnosing the disorder. A standard electrophoresis test may identify abnormalities of the immune system common to most patients with Myalgic Encephalomyelitis. A complete physical examination is also recommended. Specific treatment may be aimed at controlling symptoms. Antidepressant drugs may help eliminate depression. Digestive system problems may be alleviated with the drug metoclopramide. Headaches may be relieved by the drug pizotifen and severe muscle aches by the drug carbamazepine. Some patients may possibly benefit from Vitamin B-12 injections. Specialists such as virologists, neurologists, and specialists in infectious diseases may be able to help in some cases. Therapies: Investigational Research is underway to determine if a Coxsackie B virus associated with stress and amino acid (tryptophan) deficiencies may be implicated in onset of Myalgic Encephalomyelitis. When the disorder is better understood, scientists may be able to determine a better course of treatment or possibly some method of prevention. This disease entry is based upon medical information available through September 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information on this disorder. Resources For more information on Myalgic Encephalomyelitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Encephalomyelitis Society 494 Meadow Lane Gulph Mills, PA 19406 (215) 688-3832 Myalgic Encephalomyelitis Association The Moss 3rd Avenue Stanford-Le-Hope Essex SS17 8EL England NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 Chronic Fatigue Syndrome Society P.O. Box 230108 Portland, OR 97223 (503) 684-5261 National Chronic Fatigue Syndrome Association 12106 East 54th Terrace Kansas City, MO 64133 References EPIDEMIOLOGICAL APPROACHES TO 'EPIDEMIC NEUROMYASTHENIA': SYNDROMES OF UNKNOWN ETIOLOGY (EPIDEMIC MYALGIC ENCEPHALOPATHIES): M. Thomas; Postgrad Med J (November 1978, issue 54(637)). Pp. 768-770. RAPHE NUCLEUS ENCEPHALOPATHY (MYALGIC ENCEPHALOMYELITIS, EPIDEMIC NEUROMYASTHENIA: C.P. Maurizi; Med Hypotheses (April 1985, issue 16(4)). Pp. 351-354. Encephalomyelitis, Myalgic #pagetitle 416: Encephalomyelitis, Myalgic 03707.TXT 3Copyright (C) 1989 National Organization for Rare Disorders, Inc. 724: Endocarditis, Infective _________________________ ** IMPORTANT ** It is possible that the main title of the article (Infective Endocarditis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Endocarditis, Bacterial Endocarditis, Bacterial Acute Endocarditis, Bacterial Subacute Prosthetic Valvular Endocarditis Endocarditis, Lenta Endocarditis, Listeria Information on the following diseases can be found in the Related Disorders section of this report: Endocardial Fibroelastosis Candidiasis Rheumatic Fever Listeriosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Infective endocarditis is a bacterial infection of the inner lining of the heart muscle (endocardium). This inner lining also covers the heart valves, and it is these valves which are primarily affected by infective endocarditis. If the infection remains untreated, multiplying bacteria may eventually destroy the valves and result in heart failure. Bacteria may also form small clots (emboli) which move through the blood and block small arteries. These clots may lodge in various parts of the body including the brain and cause serious damage. There are several forms of infective endocarditis. Two types that have similar symptoms but are caused by different bacteria are acute bacterial endocarditis and subacute bacterial endocarditis. Acute bacterial endocarditis may affect normal heart valves, while subacute bacterial endocarditis more commonly affects heart valves which have been previously damaged by disease. A third type of infective endocarditis, prosthetic valvular endocarditis (PVE), may develop in patients who have previously had artificial (prosthetic) valve replacement or tissue valve replacement. Symptoms Infective endocarditis usually has a very sudden onset. Complaints of low back pain, pain in the joints (arthralgia) or in one or more muscles (myalgia) are common. These symptoms usually appear early in the disease, occasionally as the only initial symptoms. A fever which rarely exceeds 103 degrees fahrenheit is also common. Other symptoms may include night sweats, chills, headache and severe loss of appetite resulting in weight loss. Heart murmurs are present in over 85% of individuals with infective endocarditis, and 60% have enlarged spleens. Blood or blood cells may be present in the urine (hematuria). Small red or purple spots composed of blood (petechiae) may cover the skin of the upper trunk. There may also be pale, oval spots on the retina of the eye (Roth's spots) which may hemorrhage. Reddish-brown streaks (splinter hemorrhages) may occur under the nails of the fingers and toes, and small painful nodules may appear in the pads of the fingers or toes (Osler's nodes). With prolonged infection, clubbing of the fingers may also occur. In addition to the general symptoms of infective endocarditis, specific symptoms may occur more frequently in different types of the disorder. Individuals with acute bacterial endocarditis may develop valve abscesses and experience rapid destruction of the heart valves. Painless, reddish-blue skin patches (Janeway lesions) may appear on the palms of the hands and the soles of the feet. The course of acute bacterial endocarditis is very rapid. Subacute bacterial endocarditis progresses more slowly than acute bacterial endocarditis. Along with the general symptoms of infective endocarditis, there may be coughing or pain in the chest, abdomen, fingers and toes. A sensation of pricking, tingling or creeping of the skin (paresthesia) may be present. An individual with subacute bacterial endocarditis may experience changes in a preexisting heart murmur or develop a new murmur. There may also be a rapid heartbeat (tachycardia). Individuals with prosthetic valvular endocarditis may develop abscesses on or near the valves. Bacteria may also grow in the heart and obstruct the flow of blood through it. Abscesses may form in the middle muscular layer of the heart (myocardium), or the surgical wound may separate leading to instability of the artificial valve. In addition to the general symptoms of infective endocarditis, there may be a heart murmur from blood flowing backward through a defective valve (regurgitative murmur) or a murmur suggestive of blood outflow obstruction (systolic murmur). Clots (emboli) resulting from the infective endocarditis may produce serious damage. Symptoms depend upon the location of the clot. In 10% to 30% of individuals with infective endocarditis, clots lodge in the brain and may cause weakness on one side of the body, loss of vision or stroke. Clots may also cause abdominal pain, flank pain, or arterial insufficiency in an extremity. Damage from clots may be temporary or permanent. Causes Bacteria that cause infective endocarditis reach the heart through the bloodstream. Normally heart valves are highly resistant to the attachment of bacteria and resulting infection. Damage to a heart valve either by scarring (from such disorders as rheumatic heart disease) or trauma may leave the tissue susceptible to colonization by bacteria. As the microorganisms are rapidly swept past the damaged valve, those strains that can most strongly adhere to the surface are the bacteria that have the best chance of producing infective endocarditis. Over 50% of infective endocarditis cases are associated with heart damage resulting from rheumatic fever. Other disorders which may damage the valves include congenital heart disease, syphilis infection and surgical heart valve replacement. Surgical procedures on the mouth, on the reproductive organs, or on the stomach and intestines (gastrointestinal tract) often risk the spread of bacteria. There is a even higher risk of introducing bacteria into the bloodstream through major heart surgery. Acute bacterial endocarditis is most often caused by the bacteria Staphylococcus aureus. It may also be caused by group A Streptococcus and rarely by Brucella and Listeria. Approximately one-third of individuals with staphylococcal endocarditis will have a history of a preceding staphylococcal infection, with symptoms of endocarditis starting within two weeks of the initial infection. Subacute bacterial endocarditis is usually caused by streptococcal bacteria and accounts for nearly two-thirds of reported cases of infective endocarditis. Subacute bacterial endocarditis usually develops on damaged valves after dental surgery involving infected gums, reproductive or urinary (genitourinary tract) surgery or operations on the gastrointestinal tract. A history of a preceding dental, genital or urologic procedure is common. Symptoms usually begin within two weeks following the procedure, but diagnosis is often delayed. A previous history of heart disease is present in approximately 80% of individuals with subacute bacterial endocarditis. Prosthetic valvular endocarditis (PVE) develops in 2% to 3% of individuals in the year following artificial (prosthetic) valve placement, occasionally resulting from organisms accidentally implanted during surgery. The number of reported cases of prosthetic valvular endocarditis is highest with artificial aortic valve replacement. These infections frequently result from contamination during an operation. Approximately half of the reported cases are caused by staphylococcus. Affected Population Infective Endocarditis is a prevalent condition that affects twice as many men as women. Cardiac surgery and other invasive procedures have led to an increase in the number of reported cases during recent years. Intravenous drug abusers, with no history of heart disease, have a high incidence of infective endocarditis. Related Disorders Symptoms of the following disorders can be similar to those of infective endocarditis. Comparisons may be useful for a differential diagnosis: Endocardial Fibroelastosis is a heart disorder affecting infants and is characterized by a thickening of the lining of the heart cavities (endocardium). Elastic tissue grows in the tissue under the endocardium (subendocardium), causing a milky-white thickening of the endocardium and the subendocardium. (For more information on this disorder, choose "Endocardial Fibroelastosis" as your search term in the Rare Disease Database). Candidiasis is an infection caused by a fungus. Candidiasis may spread through the bloodstream and infect various parts of the body including the lining of the heart cavities (endocarditis). (For more information on this disorder, choose "Candidiasis" as your search term in the Rare Disease Database). Rheumatic Fever is an infectious disease that occurs following streptococcal infections of the throat (strep throat). Patients initially experience moderate fever, a general feeling of ill health (malaise), a sore throat and fatigue. If not treated vigorously by antibiotics, strep throat can lead to rheumatic fever. Major complications may include inflammation of the lining of the heart cavities (endocarditis). Inflammation and subsequent scarring of heart valves may occur in patients with rheumatic fever, and can lead to heart function abnormalities. (For more information on this disorder, choose "Rheumatic Fever" as your search term in the Rare Disease Database). Listeriosis is a disorder caused by a bacterial infection transmitted to humans through contaminated food products, usually improperly pasteurized milk or cheese. Cases of endocarditis may develop if the bacteria are transported to the heart through the circulating blood. (For more information on this disorder, choose "Listeriosis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of infective endocarditis depends largely on the bacterium responsible for the infection. Early diagnosis and aggressive therapy are critical for successful treatment. If infective endocarditis is diagnosed and effectively treated within six weeks of the initial infection, there is a 90% chance of cure. If the infection remains untreated, mortality rates are very high. Endocarditis is treated with antibiotics. Intravenous penicillin and intramuscular streptomycin may be administered. Treatment usually lasts from two to four weeks. Those who do not respond to this treatment may require combination drugs such as vancomycin combined with an amnio-glycoside and penicillin. Vancomycin with streptomycin or gentamicin may also be prescribed. Individuals who have had symptoms for three months or longer may require treatment for longer periods. Individuals with streptococcal infective endocarditis which responds to treatment with penicillin, usually feel better and have a reduction in fever within three to seven days after starting therapy. Staphylococcal infective endocarditis often responds more slowly to treatment. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Infective Endocarditis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References HOSPITAL SURVEY OF ANTIMICROBIAL PROPHYLAXIS TO PREVENT ENDOCARDITIS IN PATIENTS WITH PROSTHETIC HEART VALVES. R.G. Brooks et al.; AM J MED (March, 1988; issue 84(3 Pt. 2): Pp. 617-621.) RECOMMENDATIONS FOR PREVENTION OF BACTERIAL ENDOCARDITIS: COMPLIANCE BY DENTAL GENERAL PRACTIONERS. D. Sadowsky et al.; CIRCULATION (June, 1988; issue 77(6): Pp. 1316-1318.) PHYSICIAN AND DENTIST COMPLIANCE WITH AMERICAN HEART ASSOCIATION GUIDELINES FOR PREVENTION OF BACTERIAL ENDOCARDITIS. C.L. Nelson et al.; J AM DENR ASSOC (February, 1989; issue 118(2): Pp. 169-173.) EMERGENCY VALVE REPLACEMENT FOR ACTIVE INFECTIVE ENDOCARDITIS. P. Stulz et al.; J CARDIOVASC SURG (TORINO) (January-February, 1989; issue 30(1): Pp. 20-26). INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 451-460. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 532-536. Endocarditis, Infective 4pagetitle 724: Endocarditis, Infective 03708.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 788: Endometriosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Endometriosis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Endometrial Implants Endometrial Growths Information on the following diseases can be found in the Related Disorders section of this report: Pelvic Inflammatory Disease Polycystic Ovary Syndrome Ovarian Cancer General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Endometriosis is a prevalent gynecological condition that affects women. It is characterized by an inability to shed the build-up of tissue that normally forms in the uterus (endometrium) before menstruation. As a result the built-up tissue escapes from the uterus and spreads to other parts of the pelvic area, sometimes spreading as far as the lungs. Major symptoms may include lower back pain, pain in the thighs or excessive pain during the menstrual cycle, repeated miscarriages, and infertility. Bleeding from the rectum or bladder may also occur. Symptoms Endometriosis occurs in women of reproductive age when the ectopic tissue (endometrium) of the uterus, usually shed during the menstrual cycle, is not completely shed. The tissue escapes the uterine cavity and spreads to other parts of the body. When this happens, the endometrial tissue can bleed during the menstrual cycle causing cramping, severe pain, heavy or irregular menstrual bleeding or bleeding from the rectum or bladder. This endometrial tissue can attach itself to the ovaries, fallopian tubes, lymph nodes, intestines, rectum or in rare cases, the lungs. Endometriosis can cause infertility or sterility in some cases; however, most women with endometriosis can have children. Causes The cause of Endometriosis is unknown. Some of the theories concerning the cause of Endometriosis are that it may be caused by a lack of sufficient female hormone that is needed to induce a complete shedding of the endometrial tissue during menstruation. It may also be caused by the backward flow of tissue through the fallopian tubes, or carried from the uterus to other sites in the body by the blood or lymphatic systems. Research is ongoing into the cause of Endometriosis. Affected Population Endometriosis is a very common disorder that affects women of childbearing age. Some estimate that as many as 5 million females are afflicted with Endometriosis and that it may be responsible for 25% to 50% of all cases of infertility in women. Related Disorders Symptoms of the following disorders can be similar to those of Endometriosis. Comparisons may be useful for a differential diagnosis: Pelvic Inflammatory Disease (PID) is the infection of the fallopian tubes, cervix, uterus or ovaries. It occurs most often in young women who are sexually active. PID is transmitted by sexual intercourse, childbirth or abortion. In 40-60% of cases the infecting agent is the organism Neisseria Gonorrhoeae. Other cases may be caused by organisms such as Chlamydia trachomatis, gram-positive cocci, mycoplasmas, or viruses. PID causes severe pain and abdominal tenderness. Aggressive treatment is necessary to cure the infection. Polycystic Ovarian Syndrome (Stein-Leventhal Syndrome) usually appears shortly after puberty and before age twenty. Menstrual flow becomes irregular and gradually decreases over several months, until it ceases. Menstrual pain occurs as does infertility. Male virilization (growth of hair on the face, etc.), along with obesity occurs. (For more information on this disorder, choose "Stein-Leventhal" as your search term in the Rare Disease Database). The symptoms of Ovarian Cancer may also mimic symptoms of Endometriosis. This type of cancer usually arises from the ovarian epithelium and tends to spread through the lymphatic system to the abdomen and pelvis. The ovary may increase in size dramatically before the patient is aware of the change. Symptoms may include lower abdominal pain, digestive complaints, endometrial bleeding, pelvic pain and anemia. Since ovarian cancer can remain unnoticed and undiagnosed for longer than most types of gynecologic tumors it is one of highest ranking types of cancer fatalities in women. Early detection and treatment is extremely important. Therapies: Standard Treatment of Endometriosis may consist of drugs such as danazol or progestin, or the use of oral contraceptives. Surgery may be considered in the most severe cases when pain and unusual bleeding cannot controlled by drugs, or when large ovarian cysts occur containing endometriosis. Pregnancy, if possible, may improve symptoms for several years. However, women who have Endometriosis before childbirth usually find that the disorder reoccurs after they have had children. A nasal spray containing nafarelin acetate was approved in 1990 by the FDA as a treatment for Endometriosis. Nafarelin acetate works by suppressing pituitary hormones that regulate ovulation and menstruation. It is not a cure for the condition. The drug is manufactured by Syntex Corp. under the name Synarel. Women with Endometriosis may find that the disease usually resolves itself during or after menopause. Therapies: Investigational This disease entry is based upon medical information available through August 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Endometriosis, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Endometriosis Association 8585 North 76th Pl. Milwaukee, WI 53223 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 National Women's Health Network 1325 G St., NW, Lower Level B Washington, D.C. 20005 (202) 347-1140 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1978 CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1428-9. NASAL SPRAY FOR ENDOMETRIOSIS, FDA Consumer, (May, 1990, issue (4)). Updates. Endometriosis rmina pagetitle 788: Endometriosis 03677.TXT 'Copyright (C) 1992 National Organization for Rare Disorders, Inc. 874: Dyggve-Melchior-Clausen Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Dyggve-Melchior-Clausen Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms DMC Disease DMC Syndrome Disorder Subdivisions Smith-McCort Dwarfism Information on the following diseases can be found in the Related Disorders section of this report: Hurler Syndrome Morquio Syndrome Spondyloepiphyseal Dysplasia, Congenital Spondyloepiphyseal Dysplasia Tarda General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dyggve-Melchior-Clausen Syndrome is a rare disorder inherited through an autosomal recessive trait. Major symptoms may include short stature, mental retardation, bulging of the chest sternum, flattening of the vertebrae and upper border of the pelvis (iliac crest), shortening of the bones in the middle portion of the hand (metacarpals) and changes in the long bones. Patients with the Smith-McCort Dwarfism form of this disorder do not have mental retardation. Symptoms Dyggve-Melchior-Clausen Syndrome is characterized by abnormal growth and development of the skeleton and mental retardation. Patients with this disorder typically have short trunk dwarfism, mental retardation, a bulging sternum, barrel chest, restricted movement of the joints, and a waddling gait. The bones in the middle of the hand (metacarpals) and short bones in the fingers and toes (phalanges) are shorter than normal. The vertebrae and upper boarder of the pelvis are both flattened. Curvature of the spine (scoliosis), a hunchback (kyphosis), forward curvature of the spine (lordosis), and/or knees twisted inward or outward (genu valga and vera). Patients with the Smith-McCort Dwarfism form of Dyggve-Melchoir-Clausen Syndrome have the same symptoms without mental retardation. Patients with Dyggve-Melchior-Clausen Syndrome have normal excretion of mucopolysaccharides. Laboratory tests can rule out the Mucopolysaccharidoses (MPS) disorders which can have similar symptoms (see the related disorder section of this report). Causes Dyggve-Melchior-Clausen Syndrome is inherited through an autosomal recessive trait. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Affected Population Dyggve-Melchior-Clausen Syndrome is a very rare disorder that affects males and females in equal numbers. Cases have been reported in Greenland, Lebanon and Norway. Related Disorders Symptoms of the following disorders can be similar to those of Dyggve-Melchior-Clausen Syndrome. Comparisons may be useful for a differential diagnosis: Hurler Syndrome is a rare form of mucopolysaccharidosis (MPS) that is inherited through an autosomal recessive trait. Unlike Dyggve-Melchior-Clausen Syndrome, this disorder is caused by a deficiency of one of the ten lysosomal enzymes. This deficiency results in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simple molecules. The accumulation of these undegraded complex carbohydrates in the cells of the body causes symptoms such as skeletal abnormalities, poor growth, coarse facial features, clouding of the cornea, enlarged liver and spleen, joint stiffness and a prominent forehead. There are three forms of Hurler Syndrome with varying severity. (For more information on this disorder, choose "Hurler" as your search term in the Rare Disease Database). Morquio Syndrome is another a rare form of MPS that is inherited through an autosomal recessive trait. This disorder is also caused by a deficiency of one of the ten lysosomal enzymes resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simple molecules. The accumulation of these undegraded complex carbohydrates in the cells of the body causes symptoms such as abnormalities of the head, chest, hands, knees and spine. There are two forms of this disorder: Morquio Syndrome A and Morquio Syndrome B. The skeletal abnormalities in Morquio Syndrome B are milder than those in Morquio Syndrome A. (For more information on this disorder, choose "Morquio" as your search term in the Rare Disease Database). Congenital Spondyloepiphyseal Dysplasia (SED) is a rare disorder inherited through an autosomal dominant trait. Symptoms of this disorder include short-trunk dwarfism, a barrel chest, nearsightedness, and a waddling gait due to misaligned knees. Hands and feet appear normal, and patients with SED usually have normal intelligence. (For more information on this disorder, choose "Congenital Spondyloepiphyseal Dysplasia" as your search term in the Rare Disease Database). Spondyloepiphyseal Dysplasia Tarda is a rare disorder predominantly inherited through an X-linked trait although there have been reported cases of autosomal recessive and autosomal dominant inheritance. Spinal growth appears to stop between the ages of 5 and 10 years. The shoulders assume a hunched appearance, the neck appears to become shorter and the chest broadens. As adults, patients with this disorder have a mild case of dwarfism with a short trunk, large chest cage and relatively normal limb length. (For more information on this disorder, choose "Spondyloepiphyseal Dysplasia Tarda" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Dyggve-Melchior-Clausen Syndrome is symptomatic and supportive. When partial dislocation of the segments of the spinal column at the top of the spine (cervical vertebrae) is present, the joint between the two vertebrae can be fused together. This procedure should be done in order to prevent damage to the cervical part of the spinal chord. Children with Dyggve-Melchior-Clausen Syndrome may benefit from early intervention programs and special education. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dyggve-Melchior-Clausen Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5233 Parents of Dwarfed Children 11524 Colt Terr. Silver Spring, MD 20902 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1151. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 315. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 563-64. THE DYGGVE-MELCHIOR-CLAUSEN SYNDROME: S. Scorr, et al.; AJR Am J (January 1977, issue 128(1)). Pp. 107-13. THE DYGGVE-MELCHIOR-CLAUSEN SYNDROME: J. Naffah; Am J Hum Genet (November 1976, issue 28(6)). Pp. 607-14. DYGGVE-MELCHIOR-CLAUSEN SYNDROME. A HISTICHEMICAL STUDY OF THE GROWTH PLATE: W.A. Horton, et al.; J Bone Joint Surg (March 1982, issue 64(3)). Pp. 408-15. THE DYGGVE-MELCHIOR SYNDROME: J. Spranger, et al.; Radiology (February 1975, issue 114(2)). Pp. 415-21. DYGGVE-MELCHIOR-CLAUSEN SYNDROME: GENETIC STUDIES AND REPORT OF AFFECTED SIBS: S.P. Toledo, et al.; Am J Med Genet (1979, issue 4(3)). Pp. 255-61. THE DYGGVE-MELCHIOR-CLAUSEN SYNDROME: R.L. Kaufman, et al.; Birth Defects (February 1971, issue 7(1)). Pp. 144-9. HETEROGENEITY OF DYGGVE-MELCHIOR-CLAUSEN DWARFISM: J. Spranger, et al.; Hum Genet (August 30, 1976, issue 33(3)). Pp. 279-87. Dyggve-Melchior-Clausen Syndrome )pagetitle 874: Dyggve-Melchior-Clausen Syndrome 03678.TXT )y)Copyright (C) 1985, 1986, 1988, 1990, 1991, 1993 National Organization for Rare Disorders, Inc. 47: Dysautonomia, Familial _________________________ ** IMPORTANT ** It is possible that the main title of the article (Familial Dysautonomia) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Riley-Day Syndrome Hereditary Sensory Neuropathy Type III HSN-III Hereditary Sensory and Autonomic Neuropathy Type III HSAN-III Information on the following disorders can be found in the Related Disorders section of this report: Congenital Sensory Neuropathy with Anhidrosis Biemond Congenital and Familial Analgesia Hereditary Sensory Neuropathy (HSAN II) General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Familial Dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are apparent at birth. The autonomic nervous system controls vital involuntary body functions. Symptoms An infant born with Familial Dysautonomia typically has poor sucking ability, impaired swallowing reflexes, low fluid pressure within the eye, and may have poor muscle tone, and/or abnormally low body temperature (hypothermia). Infants with this disorder may have cold hands and feet, and may experience unstable body temperature (from 94 to 108 degrees) during the course of infectious diseases. Profuse sweating and drooling may also occur. A decreased perception of pain and lack of sensitivity to hot and/or cold temperatures can result in unnoticed injuries to the skin. Sometimes a lack of tears and insensitivity of the eyes to pain from foreign objects (corneal anesthesia) can lead to inflammation of the corneas and ulcerations in the eyes. Unstable blood pressure is usually present in infants with Familial Dysautonomia. Blood pressure readings may vary greatly and may be abnormally high or low. Other symptoms of Familial Dysautonomia may include the absence of the sense of taste, impaired speech, and/or red blotches on the skin that appear with emotional excitement. Approximately 40 percent of children with this disorder experience episodes of vomiting. Occasionally there may be skeletal defects, absence of tendon reflexes, stunted height, and/or repeated episodes of pneumonia due to the inhalation of food (aspiration). By adolescence, 95 percent of patients with Familial Dysautonomia have evidence of spinal curvature (scoliosis), and may experience increased sweating and an accelerated heart rate. A decreased awareness of pain makes it difficult for a child with this disorder to report injuries, and bone fractures may go unrecognized. Other symptoms that may appear during adolescence include: weakness, leg cramping, difficulty concentrating, and/or personality changes characterized by depression, irritability, inability to sleep (insomnia), and/or negativism. Approximately 20 percent of people with Familial Dysautonomia over 20 years of age develop kidney insufficiency. Neurological deterioration also appears, and unsteadiness in walking may become more apparent at this age. A medical test is available that can determine if an infant has Familial Dysautonomia. Histamine is injected under the skin and response is measured along nerve cell fibers (axon flare). The lack of response yields a diagnosis of Familial Dysautonomia. Causes Familial Dysautonomia is inherited as a recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Familial Dysautonomia is a rare genetic disorder that affects males and females in equal numbers. This disorder primarily affects infants of Ashkenazi Jewish or Eastern European ancestry; approximately 1 in 30 people of East European Jewish ancestry are thought to be carriers of the defective gene that causes this disorder. Related Disorders Symptoms of the following disorders can be similar to those of Familial Dysautonomia. Comparisons may be useful for a differential diagnosis: Biemond Congenital and Familial Analgesia is a genetic disorder characterized by symptoms that are similar to those of Familial Dysautonomia. The symptoms of this disorder include insensitivity to pain, a diminished sense of temperature and touch, and the absence of tendon reflexes. Congenital Sensory Neuropathy with Anhidrosis (Hereditary Sensory and Autonomic Neuropathy or HSAN-IV) is a rare inherited disorder of the autonomic nervous system that is characterized by the loss of pain and temperature sensation and a lack of sweating. There may be wide variations in body temperature and recurrent episodes of unexplained high fevers. The symptoms of Congenital Sensory Neuropathy with Anhidrosis may initially be confused with Familial Dysautonomia. Hereditary Sensory Neuropathy (HSAN II) is a rare inherited disorder characterized by insensitivity to pain, a diminished sense of temperature and touch, and the absence of tendon reflexes. Children with this disorder typically have decreased but not absent tear flow. The lack of sweating and the absence of abnormally low blood pressure upon standing (orthostatic hypotension) helps to distinguish this disorder from Familial Dysautonomia. (For more information on this disorder, choose "Hereditary Sensory Neuropathy" as your search term in the Rare Disease Database.) "Dysautonomia," when used as a general medical term, refers to the abnormal functioning of the autonomic nervous system and can be combined with other words to describe specific conditions such as "diabetic cardiac dysautonomia" or "postganglionic cholinergic dysautonomia." There are many conditions characterized by the symptoms of dysautonomia. These should not be confused with the specific hereditary disorder of Familial Dysautonomia. Therapies: Standard Drugs used to relieve the symptoms of Familial Dysautonomia include diazepam, metoclopramide, and chloral hydrate. Artificial tears may be needed to lubricate the eyes. Physical therapy, chest physiotherapy, occupational therapy, feeding facilitation, and/or speech therapy may also be useful to alleviate the symptoms of Familial Dysautonomia. People with Familial Dysautonomia may also benefit from a variety of other orthopedic and ocular (vision) aids. Genetic counseling will be of benefit for patients with Familial Dysautonomia and their families. Therapies: Investigational Clinical trials are underway to study the classification of the different types of Familial Dysautonomia (taxonomy) and therapy of orthostatic hypotension (low blood pressure). Interested people may wish to have their physician contact: Dr. Italo Biaggioni AA 3228 MCN Vanderbilt University GCRC Nashville, TN 37232 (615) 343-6499 Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project that is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Familial Dysautonomia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dysautonomia Foundation, Inc. 20 E. 46th St., Room 302 New York, NY 10017 (212) 949-6644 National Foundation for Jewish Genetic Diseases 250 Park Ave. New York, NY 10177 (212) 682-5550 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 768-769, 1345-1346. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2246. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 453, 1033, 1056. PRINCIPLES AND PRACTICES OF MEDICAL GENETICS, 2nd Ed.: Allan E.H. Emery & David L. Rimoin, Editors; Churchill Livingston Publishers, 1990. Pp. 397-441. NEONATAL RECOGNITION OF FAMILIAL DYSAUTONOMIA: F.B. Axelrod et al.; J Pediatr (Jun 1987;110(6)). Pp. 946-8. Dysautonomia, Familial *pagetitle 47: Dysautonomia, Familial 03679.TXT ,Copyright (C) 1992 National Organization for Rare Disorders, Inc. 888: Dyschondrosteosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Dyschondrosteosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Dwarfism, Deformity with Mesomelic Leri-Weill Disease Leri-Weil Dyschondrosteosis Leri-Weil Syndrome Mesomelic Dwarfism-Madelung Deformity Information on the following diseases can be found in the Related Disorders section of this report: Acrodysostosis Ellis-Van Creveld Syndrome Madelung Deformity due to trauma or infection Mesomelic Dysplasia, Langer Type Mesomelic Dysplasia, Nievergelt Type Mesomelic Dysplasia, Reinhardt-Pfeiffer Type Mesomelic Dysplasia, Werner Type Robinow Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dyschondrosteosis is a rare disorder that is inherited through an autosomal dominant trait. Male-to-male transmission has been observed in multiple cases. The major features of this disorder are a deformity of the wrist called Madelung Deformity and abnormally short forearms and lower legs (mesomelic short stature). Symptoms People with Dyschondrosteosis have a deformity of the wrist in which the forearm and wrist are bowed. There is partial dislocation of the bones of the forearm (radius and ulnar) due to a curvature of the lower radius (Madelung Deformity). This condition can cause limited mobility of the elbow and wrist. Abnormally short forearms and lower legs (Mesomelic Short Stature) are another feature of Dyschondrosteosis. When one or more family member has both Madelung Deformity and Mesomelic Short Stature, a relative who has the wrist deformity without the short stature is also considered to have Dyschondrosteosis. Other symptoms found in patients with Dyschondrosteosis may be: deformities of the large bone of the upper arm (humerus); an abnormal growth on the surface of the large bone in the middle of the lower leg (exostoses of the tibia); short, thick middle bones of the hand (metacarpals) fingers and toes (phalanges); the forearm may be bent or twisted outward (cubitus valgus); a defect of the hip in which the thigh bone angles out to the side of the body (coxa valga); and/or a form of arthritis in which one or more of the large joints have tissue changes causing degeneration (osteoarthritis). Causes Dyschondrosteosis is inherited through an autosomal dominant trait. Male to male transmission (father to son) has also been recorded in the medical literature. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Dyschondrosteosis is a very rare disorder that can affect males or females. There have been more cases of Dyschondrosteosis reported in females than in males but some scientists feel that this is due to the fact that females tend to have more severe symptoms. Related Disorders Symptoms of the following disorders can be similar to those of Dyschondrosteosis. Comparisons may be useful for a differential diagnosis: Acrodysostosis is a rare disorder that is thought to be inherited through an autosomal dominant trait. Females are affected twice as often as males. This disorder is characterized by short hands and feet, stubby fingers and toes, broad short nails, a flat nasal bridge, an underdeveloped jaw, improper alignment of the teeth, widely spaced eyes, mental retardation, and deformity of the bones in the arms, legs and elbows. (For more information on this disorder choose "Acrodysostosis" as your search term in the Rare Disease Database). Ellis-Van Creveld Syndrome is a rare genetic disorder that is inherited through an autosomal recessive trait. This disorder is characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Ellis-Van Creveld Syndrome is a form of Ectodermal Dysplasia which is a group of disorders involving the skin, hair, teeth and nails. Madelung Deformity due to Trauma or Infection is a partial dislocation of the bones of the forearm. It is not inherited but caused either by injury or infection. Short stature is not involved. Langer Type Mesomelic Dysplasia is a rare form of dwarfism that affects males and females equally and is inherited through an autosomal recessive trait. People with this disorder typically have short, thick, curved bones of the radius (bone on the thumb side of the forearm) and tibia (larger of the two leg bones between the knee and ankle). Failure of growth or underdevelopment and bowing of the ulna (bone on the little finger side of the forearm) and fibula (smaller of the two bones in the leg between the knee and ankle) is also present. Other features of this disorder may be: restricted elbow and forearm movement, an underdeveloped jaw, and an abnormal degree of forward curvature of the lower back. Nievergelt Type Mesomelic Dysplasia is a rare form of dwarfism that may be inherited through an autosomal dominant trait or it may occur for no apparent reason. Shortening of the limbs and restricted movement of the elbows and forearms are major features of this disorder. Unusual clubfeet (deformed feet that turn outward) and a condition in which two or more separate bones of the foot form a single bone (metatarsal synostosis) may also be present in patients with Nievergelt Type Mesomelic Dysplasia. This disorder affects males and females equally. Reinhardt-Pfeiffer Type Mesomelic Dysplasia is a rare disorder that is thought to be inherited through an autosomal dominant trait and affects females more often than males. Patients with this disorder typically have underdeveloped bones of the forearm (ulna) and lower leg (fibula) as well as an abnormality of the wrist. Other features that patients may have are: lack of formation of the joint between the bones of the forearm, and bent or twisted feet. Werner Type Mesomelic Dysplasia is a rare disorder that affects males and females equally and is inherited through an autosomal dominant trait. The large leg bone between the knee and ankle (tibia) is typically underdeveloped or absent and more than the normal number of fingers and/or toes (polydactyly) are present. Other features of this disorder are: absent thumbs, limited movement of the wrist and/or deformed ankle bones. Robinow Syndrome is a rare disorder that is thought to be inherited through an autosomal dominant trait. This disorder is characterized by shortened fingers, toes and forearms, and moderately short stature. There may also be an enlarged head and forehead with widely spaced and prominent eyes (hypertelorism), a broad, short, upturned nose, triangular shaped mouth with a cleft lower lip, a small jaw and crowded teeth. (For more information on this disorder choose "Robinow Syndrome" as your search term in the Rare Disease Database). Therapies: Standard Patients with Dyschondrosteosis may have severe Madelung deformity of the wrist requiring orthopedic surgery to alleviate the pain and enable mobility. Bone growth in patients with Dyschondrosteosis should be monitored regularly during the growth period by a physician. In severe cases surgery may be performed to equalize the length of the two legs. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dyschondrosteosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 274. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 388. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 565-566. DYSCHONDROSTEOSIS AND MADELUNG'S DEFORMITY. REPORT OF THREE KINDREDS AND REVIEW OF THE LITERATURE: R.K. Beals, et al.; Clin Orthop (May, 1976, issue (116)). Pp. 24-8. SEX-INFLUENCED EXPRESSION OF MADELUNG'S DEFORMITY IN A FAMILY OF DYSCHONDROSTEOSIS: J.R. Lichtenstein, et al.; J Med Genet (February, 1980, issue 17(1)). Pp. 41-3. MADELUNG'S DEFORMITY AND DYSCHONDROSTEOSIS: R.H. Gelberman, et al,; J Hand Surg (July, 1980, issue 5(4)). Pp. 338-40. Dyschondrosteosis -pagetitle 888: Dyschondrosteosis 03680.TXT @/@/Copyright (C) 1992 National Organization for Rare Disorders, Inc. 896: Dyskeratosis Congenita _________________________ ** IMPORTANT ** It is possible that the main title of the article (Dyskeratosis Congenita) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms DKC Dyschromatosis Universalis Hereditaria Dyskeratosis Congenita, Autosomal Recessive Type Dyskeratosis Congenita, Scoggins Type Dyskeratosis Congenita Syndrome Zinsser-Cole-Engman Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Ectodermal Dysplasias Fanconi's Anemia General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dyskeratosis Congenita is a rare disorder in which three groups of symptoms occur: darkening and/or unusual absence of skin color (hyper/hypopigmentation); progressive nail dystrophy; and slowly changing characteristics of mucous membranes (leukoplakia) in the anus, urethra, lips, mouth and/or eye. Other symptoms found in some patients with this syndrome may be reduction in red and white blood cells and platelets (pancytopenia), overgrowth of skin on the palms of the hands and soles of the feet, excessive sweating of the palms and soles, sparse or absent hair, fragile bones, underdeveloped testes, and dental abnormalities. Dyskeratosis Congenita is more prevalent among males then females and an X-linked recessive inheritance is the most common form although cases of autosomal recessive and autosomal dominant inheritance have been recorded. This disorder has also occurred sporadically (no known cause) in a significant number of cases. Symptoms The main symptoms of Dyskeratosis Congenita are: 1. Hyper and Hypopigmentation - Hyperpigmentation in Dyskeratosis Congenita has a net like pattern of distribution that is brownish-grey in color. Hypopigmentation is a lack of skin color that is intermixed. These skin discolorations may be present at birth but usually are progressive and appear later. 2. Progressive nail dystrophy may lead to loss of nails on the fingers or toes. This is visually not present at birth. 3. Mucosal leukoplakia - a slowly developing change in normal tissue of a mucous membrane. This condition may be found in the mucous membranes of the anus, urethra, lips, mouth and/or eyes. This condition should be watched closely and the leukoplakic lesions removed before they can become malignant. The following conditions are often, but not always, present in patients with Dyskeratosis Congenita: 4. Pancytopenia - a reduction in the normal number of red and white blood cells and platelets caused by bone marrow failure. 5. Hyperkeratosis - the overgrowth of skin on the palms of the hands and the soles of the feet. This condition often causes a lack of finger and foot prints. 6. Hyperhidrosis - excessive sweating of the palms of the hands and the soles of the feet. 7. Atresia of the lacrimal puncta - absence of the tiny opening in the edge of each eyelid that drains the tears. This condition causes chronic tearing. The following conditions are sometimes associated with Dyskeratosis Congenita and have been found in some patients with this disorder: 8. Alopecia - absence of hair from skin areas where it is normally present. The hair is often fine and sparse and there may be premature graying. 9. Dental abnormalities - displacement of teeth from a normal position in the dental arch. Teeth may also be lost at an early age. 10. Osteoporosis - a decrease in bone mass. Patients with Dyskeratosis Congenita may also have a fragile build and a slow growth pattern. 11. Testicular atrophy - incomplete or underdeveloped testes. The penis may also be underdeveloped. 12. Thrombocytopenia - an abnormally small number of platelets (the part of the blood that helps in clotting) in the circulating blood. 13. Microcephaly - a small circumference of the head. 14. Mental retardation or reduced intelligence. 15. Cirrhosis of the liver - a long-term disease of the liver in which the liver becomes covered with fiberlike tissue and hardens - also called nutmeg-like cirrhosis. 16. Dysphasia - difficulty in swallowing. 17. Acrocyanosis - hands and/or feet that are a blue color, cold and sweaty. This is caused by spasms of the blood vessels and usually occurs when the patient is cold or under stress. 18. Cataracts - a disease of the eye in which the lens loses it's clearness. A grey-white film can be seen in the lens. (For more information on this disorder choose "Cataracts" as your search term in the Rare Disease Database). Causes Most cases of Dyskeratosis Congenita have an X-linked recessive inheritance although cases have been reported of autosomal recessive and autosomal dominant inheritance. A significant number of cases have also occurred sporadically. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Dyskeratosis Congenita has been mapped to the Xq27-q28 gene. Affected Population Dyskeratosis Congenita affects males most often, with the ratio of affected males to females being M10:F1. This disorder is usually detected between the ages of five and fifteen although skin and nail abnormalities may be present at birth. There have been only 120 cases of Dyskeratosis Congenita reported and the disease has occurred in all races. Related Disorders Symptoms of the following disorders can be similar to those of Dyskeratosis Congenita. Comparisons may be useful for a differential diagnosis: Ectodermal Dysplasias are a group of hereditary, non-progressive syndromes in which the affected tissue derives primarily from the ectodermal germ layer. The skin, it's derivatives, and some other organs are involved. A predisposition to respiratory infections, due to a somewhat depressed immune system and to defective mucous glands in parts of the respiratory tract, is the most life threatening characteristic of this group of disorders. Symptoms include eczema, poorly functioning sweat glands, sparse or absent hair follicles, abnormal hair, disfigured nails, and difficulties with the nasal passages and ear canals. Skin is satiny smooth, prone to rashes, and slow to heal. (For more information on this disorder choose "Ectodermal Dysplasias" as your search term in the Rare Disease Database). Fanconi's Anemia is a rare form of familial aplastic anemia (a disease of the bone marrow) found chiefly in children. It is characterized by bone marrow abnormalities, a small circumference of the head, retarded sexual development and brown pigmentation of the skin. Complications such as pneumonia and meningitis, hemorrhages and leukemia may occur. (For more information on this disorder choose "Anemia, Fanconi's" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Dyskeratosis Congenita is symptomatic and supportive. Leukoplakic lesions should be surgically removed to prevent malignancy. Dental abnormalities will require dental intervention. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dyskeratosis Congenita, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 275, 1154, 1586. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W.B. Saunders Co., 1988. Pp. 474. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 567-68. DIAGNOSTIC RECOGNITION OF GENETIC DISEASES, William Nyhan, Nadia O Sakati, Editors; Lea & Febiger, 1987. Pp. 600, 672. ENHANCED G2 CHROMATID RADIOSENSITIVITY TO DYSKERATOSIS CONGENITA FIBROBLASTS: D.M. DeBauche, et al.; Am J Hum Genet (February, 1990, issue 46(2)). Pp. 350-7. DYSKERATOSIS CONGENITA: REPORT OF A CASE AND REVIEW OF THE LITERATURE: G.R. Ogden, et al.; Oral Surg Oral Med Oral Pathol (May 1988, issue 65(5)). Pp. 586-91. ETIOLOGIC HETEROGENEITY IN DYSKERATOSIS CONGENITA: G.S. Pai, et al.; Am J Med Genet (January 1989, issue 32(1)). Pp. 63-6. Dyskeratosis CongenitaE0 H0pagetitle 896: Dyskeratosis Congenita 03681.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 207: Dyslexia _________________________ ** IMPORTANT ** It is possible the main title of the article (Dyslexia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Congenital Word Blindness Primary Reading Disability Specific Reading Disability Developmental Reading Disorder General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dyslexia is a condition in which an individual with normal vision is unable to interpret written language, and therefore is unable to read. Onset is during childhood, and males are affected most often. Symptoms The primary characteristic of Dyslexia is confusion in the orientation of letters. This is manifested by reading from right to left, failure to see (and sometimes to hear) similarities or differences in letters or words, or inability to work out the pronunciation of unfamiliar words. Attempts to read or write are often characterized by letter and word reversal (e.g., "p" for "g", "saw" for "was"). This condition is typical of normal first- and second-graders, but it persists in the dyslexic child or adult. Educationally, the term Dyslexia is usually applied when a child, usually of average or above average intelligence, is two or more years behind his expected grade level in reading. However, underachievers who are less than two years behind reading level may also be affected. The inability to read is inconsistent with achievement in other school subjects such as arithmetic. Spelling ability may or may not be impaired. The child may not be able to determine left from right. Abnormalities of the senses and obvious neurological impairments are usually absent. The child may be left-handed, right-handed, or able to use both hands with equal skill (ambidextrous). A better than normal facility at mirror-reading or writing is common. In some dyslexic children, images seem to blur at a relatively low speed. In attempting to satisfy demands that he read, a dyslexic child may make up a story if the text contains a picture or may substitute words for those he cannot read. He may not be able to vocalize words, i.e., to read aloud. Symptoms of frustration are inevitable. The reading disability and its effects on learning and school performance may lead to behavior problems, delinquency, aggression, withdrawal, or alienation from other children, parents, and teachers. Early diagnosis from ophthalmic, auditory, psychological, and neurological examinations is important so the defect can be treated before a pattern of frustration and failure is established. Causes The cause of Dyslexia is unknown, but a central nervous system defect in the ability to organize graphic symbols has been suggested. One type of Dyslexia may be caused by a defect in the dorsal part of the brain (cerebellum). Dyslexia is often inherited, so other family members also may be affected. Dyslexia can also result from injury to the language centers in the grey surface of the brain (cerebral cortex), (e.g., head injury). Affected Population Onset of Dyslexia occurs during childhood, and lasts throughout life. However, compensatory strategies can often decrease the impact of this disorder in adulthood. Dyslexia affects males more frequently than females. While a family history of language disorders is common, Dyslexia can sometimes occur during adulthood as a result of injury to the language centers in the cerebral cortex. Related Disorders Alexia is a similar defect in the ability to interpret written language, and the subsequent inability to read. This disorder develops later in life as the result of a neurological lesion. Therapies: Standard Treatment of Dyslexia is by remedial education since there is no medical way to correct perceptual deficits at the present time. Psychological test results help to identify the child's areas of strengths and weaknesses so that a suitable teaching program can be designed. Remedial steps are aimed at using the child's abilities and unimpaired capabilities to compensate for visual symbol deficits. Special education services at school are often necessary to assure that the child can reach his/her potential. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dyslexia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Orton Dyslexia Society 724 York Road Baltimore, MD 21204 (301) 296-0232 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 Association for Children and Adults with Learning Disabilities 4156 Library Road Pittsburgh, PA 15234 (412) 341-1515 National Network of Learning Disabled Adults, Inc. P.O. Box Z, E.T. Station Commerce, TX 75428 (214) 886-5937 HEATH Resource Center (Higher Education and the Handicapped) One Dupont Circle, NW Washington, DC 20036 (800) 544-3284 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 211. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1975, 1980. DyslexiaW pagetitle 207: Dyslexia 03682.TXT %Copyright (C) 1987, 1988, 1990, 1991 National Organization for Rare Disorders, Inc. 325: Dysphonia, Chronic Spasmodic _________________________ ** IMPORTANT ** It is possible the main title of the article (Chronic Spasmodic Dysphonia) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dysphonia Adductor Spasmodic Dysphonia Adductor Spastic Dysphonia Abductor Spasmodic Dysphonia Abductor Spastic Dysphonia Dysphonia Spastica CSD General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Chronic Spasmodic Dysphonia (CSD) is characterized by a difficulty in speaking that resembles stuttering. It is caused by excessively vigorous drawing together (adduction) or apart (abduction) of the vocal cords. The voice sounds hoarse, soft and strained. Symptoms Chronic Spasmodic Dysphonia is a rare disorder of speech characterized by uncontrolled pitch breaks (vocal spasms), a great deal of effort in speaking, and uncontrolled intermittent hoarseness. Patients experience tightness of the throat, and the need to push in order to force their voice out. Onset usually occurs between 20 and 60 years of age. A milder subtype of CSD is characterized by difficulty with controlling speech following certain sounds such as "P", "T", and "K". In the most severe form of CSD patients may be unable to produce any normal sound (aphonia). Consequently, they may speak primarily in a whisper. Often, coughing, laughing, and sometimes singing are less affected than speaking. The breathing pattern in CSD is abnormal. Symptoms are gradually progressive over the first 2 years after which they usually stabilize. Symptoms commonly worsen with stress. The disorder usually remains chronic without marked changes over a period of years. Causes The exact cause of Chronic Spasmodic Dysphonia is not known. The adduction or abduction of the vocal cords may possibly be caused by an impairment of part of the brain (the brain stem). In about 60% of patients, onset of symptoms of CSD follows a severe upper respiratory infection with laryngitis. The disorder may also occur subsequent to head injury or prolonged use of certain drugs (phenothiazines). Some patients may have associated movement disorders such as Tardive Dyskinesia, Oral-Facial Dystonia, Torticollis, or Essential Tremor, which developed either prior to or after the onset of Spasmodic Dysphonia. Diagnosis of Chronic Spasmodic Dysphonia usually includes indirect laryngoscopy to rule out vocal cord structural abnormalities such as nodules, polyps or tumors. Affected Population Chronic Spasmodic Dysphonia affects both men and women, usually between the ages of twenty to sixty years. Related Disorders Chronic Stuttering is characterized by a speech pattern of frequent repetitions or prolongations of sounds, syllables, or words, or by frequent unusual hesitations and pauses that disrupt rhythmic flow of speech. The disorder usually appears before age 12 and is often familial. Essential Voice Tremor is part of Benign Essential Tremor syndrome. It is an involuntary movement of the vocal cords produced by rhythmic alternate contractions of opposing laryngeal muscles. Fine to moderate tremors of other muscles, the hands or head may also occur. These related tremors all appear during adolescence or later in successive family generations. There are no physical (pathologic) findings. Voluntary movement and emotion tend to increase the tremor. (For more information, choose "Benign Essential Tremor" as your search term in the Rare Disease Database.) Vocal Cord Polyps is a common condition which may result in hoarseness and a breathy voice quality. The polyps may be caused by voice abuse, chronic laryngeal allergies, or irritation of the vocal cords by industrial fumes or cigarette smoke. Vocal Cord Nodules (Singer's, Teacher's, or Screamer's Nodules) may be caused by chronic voice abuse, or using an unnaturally low voice. The nodules are concentrations of connective tissue on the vocal cords. They result in hoarseness and a breathy voice quality. Vocal Cord Paralysis may result from lesions in several locations in the brain, the 10th cranial nerve (nervus vagus), the laryngeal nerves, or from neck or chest (thoracic) lesions, neurotoxins such as lead, infections such as diphtheria, or viral illness. Vocal cord paralysis usually results in loss of vocal cord abduction or adduction. The disorder may affect speech, respiration, and swallowing. In Unilateral Vocal Cord Paralysis the voice is hoarse and breathy. In bilateral Vocal Cord Paralysis the voice is very soft (of limited intensity) but of good quality. However, difficulty breathing with wheezing may occur on moderate exertion. Squamous Cell Carcinoma of the Larynx is the most common malignant laryngeal tumor. The earliest symptom of this disorder is usually hoarseness. Early treatment with radiation or surgery of the vocal cords (cordectomy) usually results in an 85-95% chance of cure. Therapies: Standard The symptoms of Chronic Spasmodic Dysphonia sometimes improve when one of the recurrent laryngeal nerves is cut. The voice quality may return to normal and relief from the physical effort to talk may be obtained. However, the nerve can grow back 3-9 months after surgery, resulting in return of symptoms. Approximately 40% of patients have had long-term benefits from this surgery. An estimated 40% of patients will benefit from treatment with the antihypertensive drug propranolol. Speech therapy can be of benefit to patients in conjunction with drug and surgical treatments. Therapies: Investigational Researchers at twelve treatment centers including the National Institute of Deafness and Other Communication Disorders (NIDCD) are currently treating adults who suffer from Chronic Spasmodic Dysphonia with an orphan drug, botulinum A toxin (Botox). This orphan drug is injected in a part of the cartilage of the larynx (thyroarytenoid) on one side, at intervals of several weeks. To date, this procedure has been beneficial in all test cases, with varying degrees of hoarseness and swallowing difficulties as side effects, depending upon dosage. Symptoms usually return after 2 to 3 months and reinjections are required every 2 to 3 months to maintain the therapeutic benefit. Botox is manufactured by Oculinum, Inc. and is distributed by Allergan. Adults over 18 years of age who have had dysphonia for more than 2 years may contact researchers listed below if they wish to participate in research projects on Spasmodic Dysphonia. Dr. Christy Ludlow NIH/National Institute of Deafness & Other Communication Disorders (NIDCD) 9000 Rockville Pike Bethesda, MD 20892 Speech Pathology Unit Bldg. 10, Room 5N226 Bethesda, MD 20892 (301) 496-9365 or Andrew Blitzer, M.D. Professor, Clinical Otolaryngology and Vice-Chairman College of Physicians and Surgeons Columbia University New York, NY 10032 The following agency is conducting research on Spasmodic Dysphonia as well as other debilitating communicative disorders. Physicians with patients who may be interested in the study may contact: Dr. Sandra Chapman Callier Center for Communicative Disorders Dallas Center for Vocal Motor Control 1966 Inwood Rd. Dallas, TX 75235 This disease entry is based upon medical information available through June 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Chronic Spasmodic Dysphonia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Spasmodic Dysphonia Association P.O. Box 1574 Birmingham, MI 48009-1574 Our Voice Spasmodic Dysphonia Newsletter 165 - 5th Ave., Suite 1033 New York, NY 10010-7002 (212) 929-4299 (212) 929-4397 VOCAL (Voluntary Organization for Communication and Language) 336 Brixton Road London SW9 England Dr. Christy Ludlow Speech Pathology Unit NIH/National Institute of Deafness & Other Communication Disorders (NIDCD) 9000 Rockville Pike Bldg. 10, Room 5N226 Bethesda, MD 20892 (301) 496-9365 Andrew Blitzer, M.D. Professor, Clinical Otolaryngology and Vice-Chairman College of Professors and Surgeons Columbia University New York, NY 10032 Dystonia Clinical Research Center at Columbia Presbyterian Hospital 710 W. 168th St. New York, NY 10032 Dystonia Medical Research One E. Wacker Dr., Suite 2900 Chicago, IL 60601-2001 (312) 755-0198 References DIAGNOSTIC & STATISTICAL MANUAL OF MENTAL DISORDERS, 3rd ed: American Psychiatric Association, 1980. P. 79. Dysphonia, Chronic Spasmodic &pagetitle 325: Dysphonia, Chronic Spasmodic 03683.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 572: Dysplasia, Epiphysealis Hemimelica _________________________ ** IMPORTANT ** It is possible that the main title of this article ( Epiphysealis Hemimelica Dysplasia) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Aclasis, Tarsoepiphyseal Chondrodystrophy, Epiphyseal DEH Dysplasia Epiphyseal Hemimelica Epiphyseal Osteochondroma, Benign Tarsomegaly Trevor Disease Information on the following disorders can be found in the Related Disorders section of this report: Conradi-Hunermann Syndrome (Chondrodysplasia Punctata; Chondrodystrophia Calcificans Congenita; Dysplasia Epiphysealis Punctata; Conradi Disease) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Epiphysealis Hemimelica Dysplasia is a disorder that affects bone joints. It is characterized by overgrowth of the cartilage on the end (epiphysis) of one or more of the long bones (carpal or tarsal bones) in the hand or foot. Less often, the cartilage on other bones such as those in the ankle, knee or hip joint can be affected. Usually only one limb is involved. The limbs may be unequal in length. Symptoms Symptoms of Epiphysealis Hemimelica Dysplasia usually start between ages 2 and 4 years. The cartilage on the end of one or more of the long bones in the hand or foot grows excessively, causing pain and discomfort. Less often, the cartilage on bones in the ankle, knee or hip joints can also be affected. Usually only one limb is involved and the limbs may be unequal in length. Causes The exact cause of Epiphysealis Hemimelica Dysplasia is not known. The disorder can occur in varying degrees within a family, but no pattern of inheritance has been determined. Affected Population Epiphysealis Hemimelica Dysplasia is a rare disorder predominantly affecting males. Symptoms usually first appear between the ages of 2 and 4 years. Related Disorders Chondrodysplasia Punctata is a form of disproportionate dwarfism, characterized by a pug nose, scaly skin lesions, and abnormalities in the cartilage on the ends of long bones. Conradi-Hunermann Syndrome is a rare inherited form of Chondrodysplasia Punctata, affecting infants and young children. This disorder is characterized by mild to moderate growth deficiencies and unusual facial features. Large skin pores and sparse coarse hair may also be symptomatic of this condition. (For more information, choose "Conradi-Hunermann" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Epiphysealis Hemimelica Dysplasia consists of surgically removing the overgrowths of cartilage in joints where it causes pain and discomfort. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Epiphysealis Hemimelica Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References THE VARIABLE MANIFESTATIONS OF DYSPLASIA EPIPHYSEALIS HEMIMELICA: E.M. Azouz, et al. Pediatr. Radiol. (1985: issue 15(1)). Pp. 44-49. DYSPLASIA EPIPHYSEALIS HEMIMELICA: R. Cruz-Conde, et al.; Journal Pediatr Orthop (September 1984: issue 4(5)). Pp. 625-629. DYSPLASIA EPIPHYSEALIS HEMIMELICA. A CLINICAL AND GENETIC STUDY: J.M. Horan, et al.; Journal Bone Joint Surg (Br.) (May 1983: issue 65(3)). Pp. 350-354. MENDELIAN INHERITANCE IN MAN, 7th ed: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 209. Dysplasia, Epiphysealis Hemimelica pagetitle 572: Dysplasia, Epiphysealis Hemimelica 03684.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 839: Dysplasia, Fibrous _________________________ ** IMPORTANT ** It is possible that the main title of the article (Fibrous Dysplasia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Disorder Subdivisions: Monostotic Fibrous Dysplasia (Jaffe-Lichenstein Disease) Polyostotic Fibrous Dysplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Fibrous Dysplasia is a disease of the medullary bone in which benign cysts occur as a result of irregular bone development. This disorder may involve a single bone (Monostotic Fibrous dysplasia or Jaffe-Lichtenstein disease) or affect multiple bones (Polyostotic Fibrous dysplasia or McCune Albright syndrome). Fibrous Dysplasia first appears during childhood and the bone lesions usually stop developing at puberty. These lesions may be painful, deforming and widespread. The bones most often affected are the ribs, skull, facial bones, femur and tibia of the leg. Symptoms The symptoms of Monostotic Fibrous Dysplasia usually develop during childhood and are detected by a skeletal x-ray. Individuals with this disorder may have lesions (cysts) of the craniofacial bones, vertebrae or long bones (such as the femur and tibia). There may be a loss of density at the location where the bone is being replaced by fibrous tissue and this loss is usually detected by an x-ray. The tissue around the affected bone (cortical walls) may atrophy and the bone marrow cavity (medullary cavity) may expand. There is never more than a single bone affected with this form (monostotic) of Fibrous Dysplasia. Individuals with Polyostotic Fibrous Dysplasia may also have McCune Albright Syndrome which is characterized by signs of early sexual development (precocious puberty), skin pigmentation (cafe' au lait spots) and multiple fibrous bone lesions. The bone lesions of Polyostotic Fibrous Dysplasia are usually present during childhood and may involve a large percentage of the skeleton. A skeletal x-ray is used to detect this disorder often as a result of complaints by the patient of bone and joint pain or repeated fractures. There may be femur deformity and a discrepancy in leg length (known as "shepherds-crook") as well as facial disfigurement. Causes The exact cause of Fibrous Dysplasia is not known. Most cases seem to occur sporadically. Some scientists have reported that they suspect that this disorder may be inherited but this has not yet been proven. Affected Population Fibrous Dysplasia seems to affect both males and females equally. About fifty percent of the females with Polyostotic Fibrous Dysplasia have McCune Albright Syndrome with early sexual development. Therapies: Standard Fibrous Dysplasia may be treated with orthopedic procedures. Packing with bone chips and curettage (scraping) of the lesions may be used although it has been found that in patients under 18 years of age this procedure (when used on lower extremities) is usually unsatisfactory. The same procedure used on patients over 18 years of age may have satisfactory results. Internal fixation (stabilizing the bone with surgical wires, screws, pins or plates) may be used on lesions in the lower extremities of patients under 18 years of age. In cases of McCune Albright Syndrome the drug medroxyprogesterone may be used to prevent early sexual development. Therapies: Investigational There are several experimental drugs being tested for treatment of McCune Albright Syndrome which is sometimes associated with Polyostotic Fibrous Dysplasia. To learn about these drugs see the "Investigational Therapies" section of the McCune-Albright Syndrome entry on the Rare Disease Database. This disease entry is based upon medical information available through May 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fibrous Dysplasia, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2117-8. CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1519-20. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D. Ed; Blackwell Scientific Publications., 1990. Pp. 738-39. FIBROUS DYSPLASIA. AN ANALYSIS OF OPTIONS FOR TREATMENT: R.B. Stephenson, et al.; J Bone Joint Surg (Am); (Mar 1987, issue 69(3). Pp. 400-9. FIBROUS DYSPLASIA OF BONE: B.E. Stompro, et al.; Am Fam Physicians; (Mar 1989, issue 39(3)). Pp. 179-84... Dysplasia, FibrousA pagetitle 839: Dysplasia, Fibrous 03685.TXT #Copyright (C) 1991 National Organization for Rare Disorders, Inc. 838: Dysplasia, Polyostotic Fibrous _________________________ ** IMPORTANT ** It is possible that the main title of the article (Polyostotic Fibrous Dysplasia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Disorder Subdivisions: Monostotic Fibrous Dysplasia (Jaffe-Lichenstein) Information on the following diseases can be found in the Related Disorders section of this report: Neurofibromatosis, Type I ( Von Recklinghausen Disease or Peripheral Neurofibromatosis) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polyostotic Fibrous Dysplasia is a rare disorder of the soft marrow-like structure of the bone (medullary bone) in which benign cystic lesions occur as a result of irregular bone development. These lesions are present during childhood but not usually discovered until much later. This disorder involves multiple bones and often is associated with early sexual development (precocious puberty) and skin pigmentation (cafe' au lait spots). When all three symptoms are present the disease is known as McCune-Albright Syndrome. Symptoms Patients with Polyostotic Fibrous Dysplasia have abnormal fibrous tissue growth of the bone which may be progressively painful, disabling, and deforming. The areas that seem to be affected most often are the legs, femora, facial bones, mandible, and the base of the skull. These lesions are often discovered when a patient has had a spontaneous fracture or a fracture after a minor injury. Deformity of the femur and a difference in leg lengths (known as "shepherd's-crook) may also be apparent. Skin abnormalities may be another symptom of Polyostotic Fibrous Dysplasia. Skin discoloration may be present on the upper spine, buttocks and sacrum. These spots usually have a dark pigmentation and are flat, hairless, notched around the edges and do not go above the midline. The skin discolorations are called "cafe' au lait spots" and are usually on the same side of the body as the bone lesions. Early puberty occurs in a large percentage of girls with Polyostotic Fibrous Dysplasia and less frequently among boys. About fifty percent of the females with fibrous dysplasia have early sexual development (precocious puberty) which can lead to rapid bone maturation although height as an adult may be less than normal. Often there is a low sex hormone level (gonadotropin level) in both sexes and fertility may not occur. In females menstruation may be meager and irregular and occur as much as seven years prior to other sexual development. Usually ovulation and regular periods occur at the normal age and fertility is not hindered. Ovarian cysts may occur in some cases. Other symptoms of Polyostotic Fibrous Dysplasia may include an elevation of growth hormone, diabetes mellitus (a metabolic disease in which the utilization of carbohydrates is reduced while the utilization of protein and lipid are enhanced), over active thyroid (hyperthyroidism), obesity and muscular weakness caused by an adrenal or pituitary dysfunction (Cushing's syndrome), vitamin D-resistant rickets, obliteration of nasal sinuses and optic atrophy. McCune Albright Syndrome is a multi-system disorder primarily characterized by abnormal fibrous tissue development (dysplasia) in one or more bone, abnormally early puberty, and brown (cafe' au lait) spots on the skin. Other symptoms may include an over-active thyroid gland (hyperthyroidism), and a variety of bone and soft tissue tumors. (For more information on this disease choose "McCune-Albright" as your search term in the Rare Disease Database.) When a single bone is affected with fibrous dysplasia it is referred to as Monostotic Fibrous Dysplasia. McCune Albright Syndrome is not present in this form of the disease. Causes The exact cause of Polyostotic Fibrous dysplasia is not known. Most cases seem to occur sporadically. Some scientists have reported that they suspect this disorder may be inherited, but this has not yet been proven. The early (false or pseudoprecocious) puberty in females with McCune-Albright syndrome may be linked to increased ovarian function caused by increased thyroid gland function (hyperthyroidism). Affected Population Polyostotic Fibrous Dysplasia seems to affect males and females both equally. About fifty percent of the females with Fibrous Dysplasia have McCune-Albright Syndrome with early sexual development. Related Disorders Symptoms of the following disorders can be similar to those of Polyostotic Fibrous Dysplasia. Comparisons may be useful for a differential diagnosis: Neurofibromatosis (NF), Type I, also known as Von Recklinghausen's Disease or Peripheral Neurofibromatosis, is characterized by multiple brown (cafe-au-lait) colored spots on the skin, nerve tumors of varying sizes under the skin, and curvature of the spine or other bones. Disturbances of puberty may also occur. This disorder is inherited as an autosomal dominant trait, whereas the exact cause of Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome is not known. The discolorations of the skin found in Neurofibromatosis I patients are different from those found in McCune Albright Syndrome patients. (For more information on this disease choose Neurofibromatosis in as your search term in the Rare Disease Database) Therapies: Standard Treatment of Polyostotic Fibrous Dysplasia is symptomatic and supportive. Packing with bone chips and scraping (curettage) of the lesions may be used although it has been found that in patients under 18 years of age this procedure (when used on lower extremities) is usually unsatisfactory. The same procedure used on patients over 18 years of age has been found to have satisfactory results. Stabilizing the bone with surgical wires, screws, pins or plates (internal fixation) may be use on lesions in the lower extremities of patients under 18 years of age. For control of the deformities caused by lesions, and to prevent further fractures, the use of a Zickel nail has been found to be useful. The drug medroxyprogesterone may be used for treatment of sexual precocity. Therapies: Investigational There are several experimental drugs being tested for treatment of McCune-Albright Syndrome which is sometimes associated with Polyostotic Fibrous Dysplasia. To learn about these drugs see the "Investigational Therapies" section of the McCune-Albright Syndrome entry in the Rare Disease Database.) This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polyostotic Fibrous Dysplasia, please contact: National Organization of Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The (Paget's Disease Foundation (and other diseases of bone resorption) 200 Varick St., Suite 1004 New York, NY 10014-4810 (212) 229-1582 (800) 23-PAGET The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2117-8. CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1519-20. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Ed; Blackwell Scientific Publications., 1990. Pp. 739-40. FIBROUS DYSPLASIA. AN ANALYSIS OF OPTIONS FOR TREATMENT: R.B. Stephenson, et al.; J Bone Joint Surg (Am); (Mar 1987, issue 69(3)). Pp. 400-9. FIBROUS DYSPLASIA OF BONE: B.E. Stompro, et al.; Am Fam Physicians; (Mar 1989 issue 39(3)). Pp. 1979-84 MULTIPLE OSTEOTOMIES WITH ZICKEL NAIL FIXATION FOR POLYOSTOTIC FIBROUS DYSPLASIA INVOLVING THE PROMIMAL PART OF THE FEMUR: B.H. Freeman, et al.; J Bone Joint Surg (Am); (Jun 1987 issue 69(5)). Pp. 691-8. McCUNE-ALBRIGHT SYNDROME: THE PATTERNS OF SCINTIGRAPHIC ABNORMALITIES: S. Pfeffer, et al.; J Nucl Med; (Sept 1990 issue 31(9)). Pp. 1471-8. Dysplasia, Polyostotic Fibrous $pagetitle 838: Dysplasia, Polyostotic Fibrous 03686.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 633: Dysplastic Nevus Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of this article (Dysplastic Nevus Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms B-K Mole Syndrome CMM Cutaneous Malignant Melanoma, Hereditary DNS, Hereditary Familial Atypical Mole-Malignant Melanoma Syndrome FAMMM HCMM Malignant Melanoma Information on the following disorders can be found in the Related Disorders section of this report: Basal Cell Carcinoma Xeroderma Pigmentosum General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Dysplastic Nevus Syndrome is a malignant genetic skin disorder characterized by mole-like tumors. These tumors may appear in different sizes, shapes, and shades of color (usually reddish-brown to pink). The tumors have a variable ability for spreading to adjacent parts of the skin, or through the blood and lymph circulation to other organs. Dysplastic Nevus Syndrome may later evolve into Malignant Melanoma, a common form of skin cancer. Symptoms Symptoms of Dysplastic Nevus Syndrome usually start during adulthood. The disorder is characterized by large moles, variable in number, which are reddish-brown to pink in color. The moles have an irregular border. The presence of dust-like melanin which gives the moles their color, and abnormally large nuclei of skin cells called melanocytes, all visible under the microscope, are characteristic of Dysplastic Nevus Syndrome. The mole-like tumors may spread to adjacent parts of the skin, or through the blood and lymph circulation, to other organs. Certain changes in the melanocyte nuclei indicate when Dysplastic Nevus Syndrome may be changing to Malignant Melanoma. Causes Dysplastic Nevus Syndrome is a disorder inherited through autosomal dominant genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.) Affected Population Symptoms of Dysplastic Nevus Syndrome usually appear in adulthood. Males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Dysplastic Nevus Syndrome. Comparisons may be useful for a differential diagnosis: Basal Cell Carcinomas are a common form of skin cancer that may appear as small, shiny, firm nodules; ulcerated, crusted lesions; flat, scar-like hardened plaques; or lesions difficult to differentiate from psoriasis or localized dermatitis. Xeroderma Pigmentosum is a rare autosomal recessive hereditary skin disorder which begins during early childhood. It is characterized by a defect in the ability of certain connective tissue cells (fibroblasts) to repair skin damaged by ultraviolet rays. The skin of people with Xeroderma Pigmentosum is markedly hypersensitive to sunlight. (For more information, choose "Xeroderma" as your search term in the Rare Disease Data Base.) Therapies: Standard Treatment of Dysplastic Nevus Syndrome involves Vitamin-A derivatives (retinoids) used as a topical ointment. In some patients remission of the lesions may result. In other cases the lesions have regressed to a less severe form. Use of sunscreen when the skin is exposed to sunlight is recommended. Repeated examinations of the moles is advisable in order to detect changes which may signal malignancy. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dysplastic Nevus Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Nevus Network 1400 S. Joyce St., #C1201 Arlington, VA 22202 (703) 920-2349 (405) 377-3403 Giant Congenital Pigmented Nevus Support Group 12 Twixt Hill Rd. Ridgefield, CT 06877 (203) 438-3863 Nevus Support Group 58 Necton Rd. Wheathampstead, Herts AL4 8AU England Skin Cancer Foundation 245 Fifth Avenue, Suite 2402 New York, NY 10016 (212) 725-5176 Melanoma Foundation 750 Menlo Avenue, Suite 250 Menlo Park, CA 94025 (415) 326-3974 American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References DYSPLASTIC NEVUS SYNDROME: ULTRAVIOLET HYPERMUTABILITY CONFIRMED IN VITRO BY ELEVATED SISTER CHROMATID EXCHANGES: E.G. Jung, et al.; Dermatologica (1986: issue 173(6)). Pp. 297-300 ROLE OF TOPICAL TRETINOIN IN MELANOMA AND DYSPLASTIC NEVI: F.L. Meyskens Jr., et al.; Journal American Acad Dermatol (October 1986: issue 15(4 Pt 2)). Pp. 822-825. THE EFFICACY OF HISTOPATHOLOGICAL CRITERIA REQUIRED FOR DIAGNOSING DYSPLASTIC NAEVI: P.M. Steijlen, et al.; Histopathology (March 1988: issue 12(3)). Pp. 289-300. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1988. Pp. 485-486. Dysplastic Nevus Syndrome pagetitle 633: Dysplastic Nevus Syndrome 03687.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 760: Dysthymia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Dysthymia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Depressive Neurosis Depression, Mild Information on the following diseases can be found in the Related Disorders section of this report: Major Depression General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dysthymia is a common psychological disorder characterized by a chronic but mild depressive state that has been present in an individual for more than two years. When the depressive state has lasted for several years, it may be difficult to distinguish between a person's usual functioning and the mood disturbance. Dysthymia is a chronic mood disturbance which is classified as a form of neurosis. It must be distinguished from Major Depression Disorders. Symptoms Dysthymia usually begins with an easily recognizable onset, and is followed by depression (or irritability in children or adolescents). During this period of depressed mood, there may be poor appetite or overeating, an inability to sleep (insomnia) or oversleeping (hypersomnia), low energy or fatigue, low self-esteem, poor concentration, difficulty making decisions and feelings of hopelessness. In order for an individual to be diagnosed as having Dysthymia, the depression must have lasted for a two-year period (one year in children), with periods of relief lasting no more than two months. The diagnosis of Dysthymia is made after an organic problem or prolonged use of medications (e.g., antihypertensives, recreational drugs, etc.), have been ruled out. Individuals with Dysthymia usually have some problems in social and occupational functioning due to the length of the depression rather than the severity. Hospitalization is rarely required unless there is a suicide attempt or an accompanying severe depression. There may also be problems with drug or alcohol abuse. In children and adolescents, relationships with peers and adults may be affected. Depressed children may react negatively or shyly to praise, and school performance may also be adversely affected. Causes Dysthymia may occur as a consequence of other mental disorders such as anorexia nervosa, the presence of physical symptoms with no physiological cause (somatization disorder), alcohol or drug dependence, anxiety disorder or chronic disabilities that cause a severe change in life style (i.e., rheumatoid arthritis, multiple sclerosis, etc.). In children and adolescents, predisposing factors may include a hyperactive disorder, a conduct disorder, mental retardation, a severe developmental disorder, or an inadequate, disorganized, rejecting and chaotic living environment. Dysthymia may also occur without a preexisting condition. (For more information, choose "Anorexia Nervosa" as your search term in the Rare Disease Database.) Affected Population Dysthymia occurs in both males and females. In adults, the disorder is more common in females than in males, while in children it appears to occur equally in both sexes. Dysthymia is more common in biological relatives of people with major depression than among the general population. Age of onset is most commonly under 21 years of age. Related Disorders Symptoms of the following disorders can be similar to those of Dysthymia. Comparisons may be useful for a differential diagnosis: Major Depression is a mood disorder characterized by severe depression with loss of interest or pleasure in all or nearly all activities for a period of at least two weeks. Symptoms may include appetite disturbance, change in weight, sleep disturbance, decreased energy, psychomotor agitation or retardation, feelings of worthlessness, excessive or inappropriate guilt, difficulty thinking or concentrating, recurrent thoughts of death and suicidal thoughts or attempts. This diagnosis is made only after it cannot be established that a physiological factor initiated and maintained the disturbance. Therapies: Standard Treatment of Dysthymia is psychological counseling with or without antidepressant drugs. In some patients heterocyclic drugs like desipramine followed by lithium carbonate may be helpful. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dysthymia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Manic/Depressive Association P.O. Box 753 Northbrook, IL 60062 (312) 446-9009 National Mental Health Association 1021 Prince St. Alexandria, VA 22314 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) References DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3d.: R.L. Spitzer, et al., eds; American Psychiatric Association, 1984. Pp. 230-233. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 1514, 1531. THE EPIDEMIOLOGY OF DYSTHYMIA IN FIVE COMMUNITIES: RATES, RISKS, COMORBIDITY, AND TREATMENT. M.M. Weissman et al.; AM J PSYCHIATRY (July, 1988; Issue 145(7)). Pp. 815-819. THE EARLY-LATE ONSET DISTINCTION IN DSM-III-R DYSTHYMIA. D.N. Klein et al.; J AFFECTIVE DISORD (January-February, 1988; issue 14(1)), Pp. 25-33. Dysthymia pagetitle 760: Dysthymia 03688.TXT `606Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 31: Dystonia, Torsion _________________________ ** IMPORTANT ** It is possible that the main title of the article (Dystonia, Torsion) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Torsion Spasm Dystonia Musculorum Deformans DMD Dystonia Lenticularis Ziehen-Oppenheim Disease The Dystonias Information of the following diseases can be found in the Related Disorders section of this report: Marie's Ataxia Glutaricaciduria I Tardive Dyskinesia Spasmodic Torticollis Segawa's Dystonia General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Torsion Dystonia is a neurological movement disorder characterized by involuntary contortions of muscles in the neck, torso and extremities. Occasionally only one or a few muscles are involved. The disorder is most noticeable when walking. The involvement of several muscle groups may produce a sideways gait and the body may twist as if writhing or distorted. There are several types of dystonias that are characterized by involuntary muscle spasms. (To learn about other forms of Dystonia, type "Dystonia" as your search term in the Rare Disease Database). Symptoms Torsion Dystonia is a rare hereditary neurological disorder that is characterized by involuntary muscle contractions causing contortions of the body. In the early stages of this disorder these muscle contractions may be mild. They may also be sporadic and occur only after prolonged activity and stress. As the disease progresses, the painful spasms and contortions begin to occur during physical activity, particularly walking. In the later stages of the disease, they may also occur at rest. Not all cases of Torsion Dystonia are progressive and the muscle spasms may plateau at a mild level. Symptoms may also include foot drag, cramps in the hands and feet, difficulty in grasping objects, and unclear speech. The contracted tendons and buildup of connective tissue may cause permanent physical deformities. Causes Torsion dystonia may be inherited as a recessive, dominant or X-linked recessive trait. It may also be an acquired disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In the autosomal dominant form of Torsion Dystonia, the muscles in the torso and the neck are affected first. Symptoms progress slowly, but new muscle groups may be involved well beyond adolescence. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In the autosomal recessive form of Torsion Dystonia, muscle contractions of the feet and hands typically appear in childhood or adolescence. Symptoms spread quickly to involve the trunk and extremities, but progression slows after adolescence. This form of the disorder is usually more severe than the autosomal dominant form. X-linked recessive disorders are conditions that are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. An X-linked recessive form of Torsion Dystonia had been described in which the initial symptom is spasmodic eye blinking. A chromosome marker for one hereditary form of Dystonia has been identified. This 1989 discovery has pointed to the location of a gene on the long arm of chromosome 9 at q32-34 in one inherited form of the disease. More research is needed to locate the exact gene and other genes that cause several types of dystonia and to develop genetic tests for these disorders. Torsion Dystonia acquired as result of brain injury due to infection, trauma, birth injury, or stroke frequently involves only one side of the body (unilateral) and is generally nonprogressive. Affected Population The autosomal recessive form of Torsion Dystonia usually becomes apparent by puberty and primarily affects Jews of Ashkenazi descent. The defective gene is carried by 1:100 Ashkenazic Jews in the United States. Males and females are affected in equal numbers. Onset of the rarer autosomal dominant form is in late adolescence or early adulthood. The average age at onset for the X-linked form of Torsion Dystonia is in the late thirties. Related Disorders Symptoms of the following disorders can be similar to those of Torsion Dystonia. Comparisons may be useful for a differential diagnosis: Marie's Ataxia is a rare inherited disorder of the brain that affects muscle coordination. Usually the first symptom of this disorder is an unsteady manner of walking (gait) and the increasing inability to walk up and down stairs. The lack of coordination and muscle tremors may eventually involve the arms and the legs. Progressive spinal nerve degeneration leads to the wasting away (atrophy) of muscles in the arms, legs, head and neck. This disorder may begin in early adulthood or in middle age. (For more information on this disorder, choose "Ataxia, Marie" as your search term in the Rare Disease Database). Glutaricaciduria I is a rare hereditary metabolic disorder characterized by involuntary muscle contortions and an impairment in the ability to carry out voluntary movements. Affected individuals usually appear normal at birth. During the first year of life the symptoms may include vomiting, high levels of different acids in the blood (metabolic acidosis), and decreased muscle tone (hypotonia). These symptoms may progress to dystonia and choreic movements in some patients. (For more information on this disorder, choose "Glutaricaciduria " as your search term in the Rare Disease Database). Tardive Dyskinesia is a rare neurologic syndrome associated with the long-term use of neuroleptic drugs. These drugs produce symptoms that mimic other movement disorders but are actually side effects of the drug. This disorder usually appears late in the course of drug therapy. The major symptoms include involuntary and abnormal facial movements such as grimacing, sticking out the tongue, and the smacking of lips. Involuntary, rapid movements of the arms and legs (chorea) may also occur. (For more information on this disorder, choose "Tardive Dyskinesia" as your search term in the Rare Disease Database). Spasmodic Torticollis is a form of dystonia characterized by repetitive and continuous spasms in the muscles of the neck. These painful spasms result in the twisting of the neck and an unusual head posture. These spasms may begin slowly and the head may rotate to one side when the patient attempts to hold it straight or when experiencing stress. One shoulder may be higher than the other. These symptoms may progress slowly and level off after 2 to 5 years. (For more information on this disorder, choose "Spasmodic Torticollis" as your search term in the Rare Disease Database). Segawa's Dystonia is an extremely rare form of dystonia. A chemical imbalance in the central nervous system causes lack of muscle control. This disorder ranges from almost normal movement in the morning to disability in the afternoon. The disorder begins in early childhood and is often confused with and misdiagnosed as Cerebral Palsy. It worsens for a few years and then becomes static. This disorder is inherited as an autosomal dominant genetic trait. Therapies: Standard Torsion Dystonia has been treated with many drugs. These drugs include Artane (trihexyphenidyl), Cogentin (benztropine), Valium (diazepam), Rivotril (clonazepam), Lioresal (baclofen), Tegretol (carbamazepine), Sinemet or Madopar (levodopa), Parlodel (bromocriptine), Thorazine (chlorpromazine), Dartral (thiopropazate), Serenace or Haldol (haloperidol), Orap (pimozide), Nitoman (tetrabenazine) and Symmetrel (amantadine). The orphan drug botulinum A toxin (Oculinum) has been approved by the FDA for treatment of patients with certain forms of dystonia, including benign essential blepharospasm (muscle spasms of the eyelids). This drug is manufactured by: Allergran Pharmaceuticals 2525 Dupont Dr. Irvine CA, 92713 Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Researchers who are investigating Torsion Dystonia are continuing to search for drugs that may help treat dystonic symptoms. Investigators are also seeking better surgical techniques, including the implantation of electrical stimulating devices that may enhance nerve impulse transmission. Effectiveness and long-term side effects of these implanted devices have not been fully documented and more extensive research is being pursued before their therapeutic value for the treatment of Torsion Dystonia can be evaluated. Surgery is rarely used to treat Torsion Dystonia, but it is occasionally used to destroy cells of the deeply placed gray matter (basal ganglia) of the brain. It is believed that these are the cells that are firing off the wrong instructions to the muscles causing the contortions that are characteristic of Torsion Dystonia. It should be noted that the risk of brain damage from this procedure is very high. Surgery may also be used in extreme cases to sever nerves leading to the contracting muscles. Researchers at the National Institute of Neurological Disorders and Stroke in Bethesda, MD are testing a Parkinson's Disease medication, Sinemet, on patients with this form of dystonia. This drug helps the body to produce dopamine, a naturally occurring chemical in the brain that is deficient in children with Segawa's Dystonia. Patients who wish to participate in this program should ask their physicians to contact: Dr. John K. Fink NINDS Developmental and Metabolic Neurology Branch NIH, Bldg. 10, Rm. 3D03 Bethesda, MD 20892 This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Torsion Dystonia, please contact: National Organization for Rare Disorders, Inc. (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Dystonia Medical Research Foundation One E. Wacker Dr., Suite 2900 Chicago, IL 60601-2001 (312) 755-0198 National Foundation for Jewish Genetic Diseases 250 Park Ave. New York, NY 10177 (212) 682-5550 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 328-329, 1349, 1974. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2134-2135. CLINICAL COURSE OF IDIOPATHIC TORSION DYSTONIA AMONG JEWS IN ISRAEL, R. Inzelberg et al.; ADV NEUROL (1988; 50): Pp. 93-100. AUTOSOMAL DOMINANT TORSION DYSTONIA IN A SWEDISH FAMILY. L. Forsgren et al: ADV NEUROL (1988; 50): Pp. 83-92. THE DYSTONIAS, C.H. Markham; Curr Opin Neurol Neurosurg (June 1992; 5(3)): Pp. 301-307. THE GENETICS OF PRIMARY TORSION DYSTONIA, U. Miller; Hum Genet (Jan 1990; 84(4)): Pp. 107-115.)): Pp. 107-115. Dystonia, Torsion Syme7 h7pagetitle 31: Dystonia, Torsion 03689.TXT Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders, Inc. 576: Dystrophy, Asphyxiating Thoracic _________________________ ** IMPORTANT ** It is possible that the main title of the article (Asphyxiating Thoracic Dystrophy). Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Jeune Syndrome Thoracic-Pelvic-Phalangeal Dystrophy Asphyxiating Thoracic Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Chondroectodermal Dysplasia Metrophic Dwarfism General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Asphyxiating Thoracic Dystrophy is a very rare genetic disorder affecting the development of the bone structure of the chest area. Major symptoms include failure of the rib cage to develop correctly, kidney problems and shortened bones of the arms and legs. Symptoms Asphyxiating Thoracic Dystrophy (ATD) is characterized by insufficient growth of the rib cage (thorax) in newborns. The characteristic "bell-shaped" chest cavity results in the inability of the infant to breathe properly. Lung infections, high blood pressure, pancreatic cysts and the growth of too many fingers and toes (polydactyly) may also occur. ATD patients may also have insufficient growth of the pelvic bones and shortened long bones of the arms and legs. Breathing and kidney problems are the most serious complications of ATD. Causes Asphyxiating Thoracic Dystrophy is caused by hardening of the endochondral bone in the fetal rib cage (thorax). It is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Asphyxiating Thoracic Dystrophy affects about one in one hundred and twenty thousand live births. Males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Asphyxiating Thoracic Dystrophy. Comparisons may be useful for a differential diagnosis: Chondroectodermal Dysplasia features dwarfism with striking shortening of the extremities. Extra fingers and toes, fused wrists, dystrophy of the fingernails, lip abnormalities and heart defects also occur in this disorder. Metatrophic Dwarfism is noticed in infancy, and is characterized by the development of a long narrow thorax, flattening of the vertebral bones and relatively short limbs. Progressive deformity of the bones of the thorax and spine causes a loss of previous development of normal body proportions. This results in short-spine dwarfism with severe dysplasia of the skeleton. Therapies: Standard Treatment of Asphyxiating Thoracic Dystrophy may consist of surgical expansion of the chest area by removal of cartilage in the sternum or by using an acrylic implanted device to expand the rib cage to enhance breathing capabilities. Kidney problems can be treated with dialysis or kidney transplants. A diagnosis of ATD may be made prenatally by the use of ultrasound imaging. Genetic counseling may be of benefit to families affected by this disorder. Other treatment is symptomatic and supportive. Therapies: Investigational The Titanium Rib Project is underway to implant expandable ribs in patients with disorders involving missing, underdeveloped, or otherwise malformed rib cages, ribs or chest walls. Absent areas due to surgery or birth defects, fused ribs or hypoplastic chests may be improved using the titanium ribs which can be expanded as the child grows. Interested persons may contact: Dr. Robert Campbell Santa Rosa Children's Hospital 519 W. Houston St. San Antonio, TX 78207-3198 (512) 567-5125 This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Asphyxiating Thoracic Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Jeune Syndrome Support Group 5636 Secor Rd., #11 Toledo, OH 43627 (419) 475-9632 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles: MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 844, 951, 1108, A THORACIC EXPANSION TECHNIQUE FOR JEUNE'S ASPHYXIATING THORACIC DYSTROPHY, D.W. Todd, et al., J Pediatr Surg (February, 1986, issue 21 (2)). Pp. 161-163. THE JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) IN AN ADULT. J. M. Friedman, et al., Am J Med (December, 1975, issue 59 (6)). Pp. 857-862. ASPHYXIATING THORACIC DYSPLASIA. CLINICAL, RADIOLOGICAL, AND PATHOLOGICAL INFORMATION ON TEN PATIENTS. R. Oberklaid, et al., Arch Dis Child (October, 1977, issue 52 (10)). Pp. 758-765. Dystrophy, Asphyxiating Thoracic pagetitle 576: Dystrophy, Asphyxiating Thoracic 03690.TXT #Copyright (C) 1987, 1988, 1990 National Organization for Rare Disorders, Inc. 357: Dystrophy, Myotonic _________________________ ** IMPORTANT ** It is possible the main title of the article (Myotonic Dystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Steinert Disease Curschmann-Batten-Steinert Syndrome Myotonia Atrophica Information on the following diseases can be found in the Related Disorders section of this report: Klinefelter Syndrome Myotonia Congenita, also known as Thomsen's Disease Turner's Syndrome Noonan's Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Myotonic Dystrophy is an inherited disorder involving the muscles, vision, and endocrine glands. It can cause mental deficiency and loss of hair. Onset of this rare disorder commonly occurs during young adulthood. However, it can occur at any age and is extremely variable in degree of severity. Symptoms Myotonic Dystrophy usually begins during young adulthood and is marked initially by an inability to relax muscles after contraction. Loss of muscle strength, mental deficiency, cataracts, reduction of testicular function, and frontal baldness are also symptomatic of this disorder. Tripping, falling, difficulty in moving the neck, lack of facial expression and a nasal sounding voice are among many symptoms that can result from selective muscle involvement. Following is a list of symptoms that may occur as a result of selective muscle involvement: 1) Drooping eyelids 2) Furrowed forehead 3) Tipping the head when attempting to see straight 4) Inability to let go after shaking hands 5) Lack of ability to relax muscles after tensing (particularly in the forearms) 6) Weakness of fingers and thumb 7) Muscular atrophy (particularly in the head and neck area) 8) Weakness of the lifting muscles 9) Weakness of the tongue 10) Weakness of the arm and leg muscles Testicular atrophy, impotence, possibly development of enlarged male breasts (gynecomastia), and some features of Klinefelter Syndrome are also symptomatic of Myotonic Dystrophy in males. (For more information, choose "Klinefelter" as your search term in the Rare Disease Database). Causes Myotonic Dystrophy is inherited as a dominant trait with incomplete penetrance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Incomplete penetrance of a gene means that all characteristics of a particular trait may not be manifested in all those who inherit the defective gene. Scientists recently isolated a gene on chromosome 19 that they believe is responsible for Myotonic Dystrophy. A method using genetic markers called "fragment polymorphisms" has been developed to predict with 90% certainty which individuals are at risk for developing Myotonic Dystrophy. Affected Population Myotonic Dystrophy is a rare disorder that affects males and females in equal numbers. Onset usually occurs in children or young adults. Related Disorders Klinefelter Syndrome, which is characterized by the presence of one or more extra X-chromosomes, is the most frequent cause of primary hypogonadism. Hypogonadism is a condition in which abnormally decreased functional activity of the gonads can result in retardation of growth and sexual development. Klinefelter Syndrome becomes evident only after puberty with evidence of infertility and/or testicular deficiency (eunuchoidism) of varying degrees. Abnormally large mammary glands can occur in this disorder. Myotonia Congenita or Thomsen's Disease is a rare inherited disorder that begins early in life and involves the entire muscle system. Difficulty in initiating movement combined with slowness of relaxation are the chief symptoms. Muscle stiffness of the entire body may also occur with this generally nonprogressive disorder. (For more information, choose "Thomsen" as your search term in the Rare Disease Database.) Turner's Syndrome is a genetic disorder affecting females which is characterized by lack of sexual development, small stature, possible mental retardation, a webbed neck, heart defects, and various other congenital abnormalities. Individuals have an XO karotype; i.e., they have neither the second X chromosome that characterizes females nor the Y chromosome of males. They have a female appearance. (For more information on this disorder, choose "Turner" as your search term in the Rare Disease Database.) Noonan's Syndrome is related to Turner's Syndrome, but it affects males exclusively. Therapies: Standard The muscle weakness caused by Myotonic Dystrophy does not seem to respond to physical therapy, but active and passive exercises may still be helpful. Agencies which provide services to handicapped people and their families may be of benefit. Genetic counseling can be useful for families with this disorder. Other treatment is symptomatic and supportive. Treatment with anti-arrythmic and anti-convulsant drugs may be of therapeutic benefit, but cannot halt the progress of this disorder. Careful administration of these drugs is essential to obtain results without excessive side effects. Therapies: Investigational At the present time, a study is being conducted on the effectiveness of the drugs tocainide (Xylotocan) and nifedipine as treatments for Myotonic Dystrophy. Selenium and Vitamin E are also being tested and may be helpful in increasing muscle strength and improvement of some other symptoms of this disorder. Overdoses of selenium and Vitamin E can be harmful (toxic), so treatment must be carefully monitored by a physician. Researchers announced in the February 8, 1990 issue of the journal "Science" that they believe the gene for Myotonic Dystrophy is on chromosome 19. More research is necessary to determine whether a genetic test can be developed as a result of this research. This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Myotonic Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SELENIUM THERAPY OF MYOTONIC DYSTROPHY: G. Orndahl, et. al.; Acta Med Scand, (1983, issue 213(3)). Pp. 237-239. THE PROBLEM OF DIAGNOSIS AND THERAPY OF MYOTONIC DYSTROPHY: F. Reisecker; Wien Med Wochenschr (June 30, 1983, issue 133(12)). Pp. 319-321. NIFEDIPINE IN THE TREATMENT OF MYOTONIA IN MYOTONIC DYSTROPHY. R. Grant, et al.; J NEUROL NEUROSURG PSYCHIATRY (February 1987, issue 50(2)). Pp. 199-206. MYOTONIC DYSTROPHY TREATED WITH SELENIUM AND VITAMIN E. G. orndahl, et al.; ACTA MED SCAN (1986, issue 219 (4)). Pp. 407-414. ANTIMYOTONIC THERAPY WITH TOCAINIDE UNDER ECG CONTROL IN THE MYOTINIC DYSTROPHY OF CURSCHMANN-STEINERT. U. Mielke, et al.; J NEUROL (1985, issue 232 (5)). Pp. 271-274. Dystrophy, Myotonic : S'$ *$pagetitle 357: Dystrophy, Myotonic 03691.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 859: Eales Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Eales Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Idiopathic Peripheral Periphlebitis Eales Retinopathy Information on the following diseases can be found in the Related Disorders section of this report: Arteriosclerotic Retinopathy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the Resources section of this report. Eales Disease is a rare vision disorder that appears to an examining physician as an inflammation and white haze around the outercoat of the veins in the retina. The disorder is most prevalent among young males and normally affects both eyes. There is usually a sudden blurring of vision due to oozing of the clear jelly that fills the eyeball behind the lens of the eye (vitreous hemorrhaging). Eales Disease usually presents itself with blurred vision resulting from oozing of the lear jelly-like substance behind the lens of the eye. At the onset of the disorder, the small outer veins of the retina show sheathing (capsule or covering). As the disease progresses, the inflammation around the veins in the retina extends further behind the lens. Eales Disease may also be associated with peripheral retinal neovascularization which is the formation of new blood vessels on the outer part of the retina. The more advanced cases of Eales Disease are characterized by a non-inflammatory degenerative disease of the retina (retinopathy) and extensive bleeding in the retina. The colorless jelly that fills the eyeball behind the lens oozes from the retina (vitreous hemorrhage) and, in rare cases, the retina may become detached. A reddish discoloration of the iris may be present (rubeosis iridis), and there may be loss of vision and damage to the optic disk (neovascular glaucoma). Clouding of the lens of the eye that obstructs the passage of light (cataracts) may develop as the disease progresses. Causes the exact case of Eales Disease is not known. This disorder seems to occur spontaneously because scientists have been unable to identify any precipitating factors such as injury, infection, heredity, etc. Related Disorders Symptoms of the following disorders can be similar to those of Eales Disease. Comparisons may be useful for a differential diagnosis. Arteriosclerotic Retinopathy is a series of changes in the retina that are caused by hardening of the arteries (arteriosclerosis). The characteristics of this disorder are bleeding in the retina, thick fluid oozing from the retina, impaired oxygenation of the retina, and hardening of the walls of the vision impairment. (For more information on this disorder, choose "arteriosclerosis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Eales Disease is symptomatic and supportive. The surgical process of coagulating tissue with a laser beam (laser panretinal photocoagulation) may be used to eliminate the deficiency of blood in the retina caused by constriction of blood vessels and to slow down excessive formation of blood vessel tissue. Hemorrhaging of the clear jelly that is behind the lens of the eye (vitreous) and detachment of the retina) may be helped by the removal of the dark pigmented disk and jelly-like substance behind the retina (pars plana vitrectomy. Therapies: Investigational This disease entry is based upon medical information available through July 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Eales Disease, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Eye Research Institute of Retina Foundation 20 Staniford St. Boston, MA 02114 (617) 742-3140 References CLINICAL OPHTHALMOLOGY, 2nd ed.: Jack J. Kanski; Butterworth-Heinemann, 1989. P. 170........ Eales Disease pagetitle 859: Eales Disease 03692.TXT &Copyright (C) 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 794: Eaton-Lambert Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Eaton-Lambert Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Lambert-Eaton Syndrome Lambert-Eaton Myasthenic Syndrome Myasthenic Syndrome of Lambert-Eaton Information on the following disorders can be found in the Related Disorders section of this report: Myasthenia Gravis Guillain-Barre Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Eaton-Lambert Syndrome is a neuromuscular disorder that may be an autoimmune disease. Major symptoms include muscle weakness and fatigue especially of the pelvic and thigh muscles. Other symptoms may include dryness of the mouth, impotence, pain in the thighs, and a pricking, tingling or creeping sensation on the skin (paresthesias) around the affected areas. Symptoms Eaton-Lambert Syndrome is characterized by weakness and fatigue especially of the pelvic and thigh muscles. Other symptoms may include dryness of the mouth, impotence, pain in the thighs, and a pricking, tingling or creeping feeling on the skin (paresthesias) around the affected areas. Some patients experience double-vision (diplopia), difficulty in articulation of speech (dysarthria), ptosis (drooping of the upper eyelid), decreased sweating, low blood pressure when in an upright position (orthostatic hypotension), and altered reflexes of the pupils of the eyes. Patients with Eaton-Lambert Syndrome may not have deep tendon reflexes and lower limbs are affected more often than upper limbs. Diagnosis of Eaton-Lambert Syndrome is made by EMG (electromyogram), which is a record of electrical activity of the muscles, and by electron microscopy. The EMG initially shows a small amount of electrical activity in the muscle. After stimulation or exercise, there is increased activity in the muscle. Electron microscopy (use of an electron microscope which magnifies tiny images such as bacteria or viruses and is 1000 times more powerful than an ordinary microscope) may show changes in the postsynaptic membrane and nerve terminal of nerve cells. Causes Eaton-Lambert Syndrome is suspected of being an autoimmune disorder. Autoimmune disorders are caused when the body's natural defenses (antibodies, lymphocytes, etc.), against invading organisms suddenly begin to attack healthy tissue. Eaton-Lambert Syndrome may involve autoantibodies directed against part of the terminals of nerves, causing a reduction in the amount of acetylcholine released at the place where the terminals of nerve cells meet the muscle (motor end plate) in response to a nerve impulse. When the nerve is repeatedly stimulated, it helps the release of acetylcholine, increasing possible muscle action. Acetylcholine is a chemical that helps "communication" between nerve cells and muscles. Two thirds of Eaton-Lambert Syndrome patients are people with cancer. Of Eaton-Lambert Syndrome patients over the age of 40, 70% of men and 30% of women will have a malignant tumor. The tumor is usually a small cell carcinoma of the lung. Eaton-Lambert Syndrome may occur up to three years before a tumor is detected. However, in one third of patients with this disorder, the syndrome is not related to cancer and may occur at any age. (For more information, choose "cancer" as your search term in the Rare Disease Database.) Affected Population Eaton-Lambert Syndrome is a rare disorder that affects males and females equally and tends to occur most often in patients with cancer, especially small-cell lung cancer (such as oat cell carcinoma of the lung). In one third of Eaton-Lambert patients, the syndrome is not related to cancer and may occur at any age. There are approximately 400 known cases of Lambert-Eaton Syndrome in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Eaton-Lambert Syndrome Syndrome. Comparisons may be useful for a differential diagnosis: Myasthenia Gravis (MG) is a chronic neuromuscular disease characterized by weakness and abnormally rapid fatigue of the voluntary muscles, with improvement following rest. Any group of muscles may be affected, but those around the eyes and the muscles used for swallowing are the most commonly involved. In Eaton-Lambert Syndrome these head and neck muscles are usually not affected. Weakness of the limbs is a frequent characteristic of MG and is most pronounced at the end of the day and also after exercise. However, in patients with Eaton-Lambert Syndrome muscle strength tends to improve after exercise. (For more information on this disorder, choose "Myasthenia" as your search term in the Rare Disease Database). Guillain-Barre Syndrome is an autoimmune disease which occurs when the body's defense system attacks the nerves, damaging the nerve's myelin and axon. Nerve signals are delayed and altered, causing weakness and paralysis of the muscles of the legs, arms, and other parts of the body. Abnormal sensations such as numbness or tingling also occur. If muscle nerves are damaged, the patient experiences aching and weak muscles, shortness of breath, and difficulty in swallowing. If the autonomic nervous system is damaged, the patient may experience alterations of blood pressure, heart rate, vision, body temperature, bladder function, and blood chemistries. (For more information on this disorder, choose "Guillain" as your search term in the Rare Disease Database). Therapies: Standard Symptoms of patients with Eaton-Lambert Syndrome are often relieved or improved with Guanidine. This drug increases the release of acetylcholine in the muscles. Immunosuppressive drugs such as prednisone and azathioprine may also relieve symptoms. If cancer is present, treatment of Eaton-Lambert Syndrome first involves treatment directed at the cancer. This may result in relief of Eaton-Lambert symptoms as well. Other treatment is symptomatic and supportive. Therapies: Investigational The FDA has approved the following drug for testing as treatment for Eaton-Lambert Syndrome in patients: The orphan drug dynamine is being tested for treatment of Eaton-Lambert Syndrome. The drug is manufactured by Mayo Foundation, Rochester, MN. Plasmapheresis may be of benefit in some cases of Eaton-Lambert Syndrome. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Eaton-Lambert Syndrome. The National Cancer Institute conducts clinical trials on new drugs being tested for lung cancer and other forms of cancer. To learn about locations of these investigations, contact the Cancer Information Service, 1-800-4-CANCER. Clinical trials are underway to study the orphan drug 3,4-diaminopyridine for the improvement of strength in patients with Eaton Lambert Syndrome. Interested persons may wish to contact: Donald B. Sanders, M.D. Box 3403 Duke University Medical Center Durham, NC 27719 (919) 684-6078 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Eaton-Lambert Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Myasthenia Gravis Foundation, Inc. 53 W. Jackson Blvd., Suite 1352 Chicago, IL 60604 1-800-541-5454 (312) 427-6252 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Muscular Dystrophy Association, National Office 3561 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 1106, 1633, 2285, 2287. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 999-1000. THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck, Sharp, and Dohme Laboratories, 1982. Pp. 1213, 1450-1451. AUTONOMIC DYSFUNCTION IN LAMBERT-EATON MYASTHENIC SYNDROME. R. K. Khurana, et al.; J Neurol Sci (May 1988; issue 85 (1)). Pp. 77-86. EATON-LAMBERT SYNDROME AS A HARBINGER OF RECURRENT SMALL-CELL CARCINOMA OF THE CERVIX WITH IMPROVEMENT AFTER COMBINATION CHEMOTHERAPY. G. P. Sutton, et al.; Obstet Gynecol (Sept 1988; issue 72 (3 Pt 2)). Pp. 516-518. 3,4-DIAMINOPYRIDINE IN THE TREATMENT OF LAMBERT-EATON MYASTHENIC SYNDROME. McEvoy, K.M., N Eng J Med, (1989, issue 321). Pp. 1567-1571. Eaton-Lambert Syndrome 'pagetitle 794: Eaton-Lambert Syndrome 03661.TXT pagetitle 466: Dextrocardia with Situs Inversus Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 466: Dextrocardia with Situs Inversus _________________________ ** IMPORTANT ** It is possible the main title of the article (Dextrocardia with Situs Inversus) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Mirror-Image Dextrocardia Information on the following disorders can be found in the Related Disorders section of this report: Heart, Dextroversion Heart, Dextroposition Isolated Dextrocardia Kartagener Syndrome (Kartagener Triad; Sinusitis-Bronchiectasis-Situs Inversus Syndrome; Dextrocardia-Bronchiectasis-Sinusitis Syndrome) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dextrocardia with Situs Inversus is a heart condition characterized by abnormal positioning of the heart. In this disorder, the tip of the heart (apex) is positioned on the right side of the chest. Additionally, the position of the heart chambers as well as the visceral organs such as the liver and spleen is reversed (situs inversus). However, most patients can live a normal life without associated symptoms or disability. Symptoms Dextrocardia with Situs Inversus is characterized by the reversal of the normal position of the heart chambers and abdominal organs such as the liver and spleen. The electrocardiogram shows an inversion of the electrical waves from the heart. The apex of the heart is positioned on the right side of the chest whereas it is normally located on the left. Causes Dextrocardia with Situs Inversus is a genetic disorder present at birth. It is transmitted by autosomal recessive genes. The primitive loop in the embryo moves into the reverse direction of its normal position during fetal development, causing displacement of organs. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Dextrocardia with Situs Inversus is present at birth. The condition affects males and females in equal numbers. Related Disorders Dextroversion of the heart means that the location of the heart is abnormally positioned in the right half of the chest. The left ventricle remains on the left, but lies in front of the right ventricle. The heart is rotated to the right. The waves representing the heart beat on the electrocardiogram will indicate an abnormality. Dextroposition of the heart is a displacement of the heart to the right. It is usually caused by acquired disease of the lungs, the membrane around the lungs (pleura), or diaphragm. The electrocardiogram is usually normal. Kartagener syndrome is a combination of Dextrocardia with chronic dilatation of the bronchi, difficulty breathing, recurrent respiratory infection (bronchiectasis) and infection of the sinuses (sinusitis). Clubbed fingers and bluish discoloration of the skin (cyanosis) may also be present. Therapies: Standard Treatment of Dextrocardia with Situs Inversus is symptomatic and supportive when needed. In most cases patients can live a normal life without any symptoms or discomfort. If the condition is associated with other more serious heart malformations, the prognosis and treatment will vary. Genetic counseling may be helpful for affected families. Therapies: Investigational This disease entry is based upon medical information available through March 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dextrocardia with Situs Inversus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CONGENITALLY CORRECTED TRANSPOSITION IN THE ADULT: DETECTION BY RADIONUCLIDE ANGIOCARDIOGRAPHY: G.L. Guit, et al.; Radiology (November 1985: issue 157(2)). Pp. 521-527. A POSSIBLE INCREASE IN THE INCIDENCE OF CONGENITAL HEART DEFECTS AMONG THE OFFSPRING OF AFFECTED PARENTS: V. Rose, et al.; Journal Am Coll Cardiol (August 1985: issue 6(2)). Pp. 376-382. INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al., eds; Little, Brown, 1987. P. 525. Dextrocardia with Situs Inversus 03662.TXT @181Copyright (C) 1987, 1988, 1989, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 335: Diabetes, Insipidus _________________________ ** IMPORTANT ** It is possible the main title of the article (Diabetes Insipidus) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Nephrogenic Diabetes Insipidus, also known as NDI, Vasopressin-resistant Diabetes Insipidus and Vasopressin-sensitive Diabetes Insipidus Diabetes Insipidus, Neurohypophyseal General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Diabetes Insipidus is due to an abnormality of anti-diuretic hormone (vasopressin or ADH) originating in the posterior lobe of the pituitary gland. The lack of effect of this hormone on the kidney causes excretion of excessive quantities of very dilute (but otherwise normal) urine. Excessive thirst is the major symptom of this disorder. Symptoms Nephrogenic Diabetes Insipidus (NDI), either the congenital or acquired type, involves resistance by the kidney to the vasopressin hormone. Neurohypophyseal Diabetes Insipidus involves absent or decreased production or secretion of the vasopressin hormone by the pituitary gland. Primary or idiopathic DI affects approximately fifty percent of those with diabetes insipidus, and may be due to an inflammation of the pituitary gland's posterior lobe (neurohypophyseal system). The inherited form of Diabetes Insipidus is extremely rare. Secondary or acquired diabetes insipidus can be due to a variety of pathologic lesions. Onset of all types of Diabetes Insipidus may be abrupt and may occur at any age. The initial symptom is commonly excessive thirst. Enormous quantities of fluid may be ingested and excreted (3 to 30 liters/day). Excessive urination at night (nocturia) usually occurs. Loss of consciousness may ensue if sufficient fluid is not retained in the body. Some patients may also experience fever. General health is usually good in cases of nephrogenic diabetes insipidus, but some weakness may be experienced. The constant need to drink fluids may become a major nuisance to patients who can find it difficult to live a normal life. With cases of both Nephrogenic Diabetes Insipidus and Neurohypophyseal Diabetes Insipidus, dehydration and resultant weakness, dryness of mouth and/or skin, and constipation may develop rapidly if loss of fluid through urine is not continuously replaced. Brain damage with mental retardation may occur if the exact cause of diabetes insipidus symptoms in infants is not speedily recognized. Since an infant cannot communicate thirst, severe dehydration with excessive amounts of sodium in the blood (hypernatremia), fever, vomiting and/or convulsions should be recognized as possible Diabetes Insipidus symptoms. Causes Nephrogenic Diabetes Insipidus (a genetic form of DI) is often inherited as an X-linked trait. It may also be autosomal dominant in other forms of the disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) A partial form of the disorder may be confined to females who may be genetic carriers but not show symptoms of the disorder. Neurohypophyseal Diabetes Insipidus can be inherited either as an autosomal dominant or X-linked trait (see above). In other cases it may occur spontaneously as a result of a lesion. Any lesion, either congenital or acquired, may damage the essential structure of the posterior lobe of the pituitary gland (neurohypophyseal system) where the antidiuretic hormone (vasopressin or ADH) is stored. A lesion may be temporary when resulting from trauma, but may last longer when due to other causes. The acquired lesions which may produce DI (in decreasing order of frequency) are: 1) Pituitary gland surgery (posthypophysectomy). 2) Cranial injuries, particularly basal skull fractures. 3) Pituitary gland area tumors may originate in the pituitary gland (primary) or be spread to the pituitary gland from another area (metastatic). 4) Histiocytosis, a cellular disorder of the connective tissue due to an inflammation, can also cause DI. 5) Granulomas (sarcoidosis or tuberculosis) can produce a mass or nodule of tissue that can cause DI by destroying normal neurohypophyseal tissue. 6) Vascular lesions may include a sac formed by dilatation of the wall of an artery (aneurysm) or a type of blood clotting which causes an obstruction in a vein (thrombosis) which may affect the blood supply of the pituitary gland. 7) Infections, such as encephalitis or meningitis, may affect the pituitary gland. Affected Population The inherited forms of Diabetes Insipidus usually affect males. Females can be carriers of the genetic defect and can possibly pass it on to their offspring. It may begin at any age, usually rapidly and without warning. In nephrogenic DI, the first symptoms may appear during infancy. In adults, dehydration and fever may accompany the abrupt onset. In neurohypophyseal DI, which is rarer, onset usually occurs during infancy or early childhood. An abrupt onset may also occur in adults. Related Disorders Diabetes Mellitus (Insulin Dependent) is a more common disorder in which the body does not produce enough insulin and is, therefore, unable to convert nutrients into the energy necessary for daily activity. The disorder is genetic but environmental factors may play a role in determining which genetically predisposed people will get the disorder. More females than males are affected by diabetes mellitus. The most obvious symptom is unusually excessive thirst. (For more information on this disorder, choose "Diabetes Mellitus) as your search term in the Rare Disease Database.) For more information on diabetes, see the related articles in the Prevalent Health Conditions/Concerns area of NORD Services (rdb-4). Therapies: Standard 1) HORMONE THERAPY Hormone therapy may be beneficial to people with Diabetes Insipidus. If a lesion is found it may be eradicated in some cases. Otherwise, effective control of DI may be obtained with several preparations of the vasopressin hormone (ADH) which are commercially available. These include Lypressin (a synthetic vasopressin as a nasal spray which is the simplest form for self administration) and Desmopressin Acetate (a longer acting synthetic ADH substitute). Both of these drugs may be inhaled or blown high into the nasal passages with an insufflator. In many patients nasal irritation may be a limiting factor with this form of treatment. Intramuscular injections of vasopressin tannate in (pitressin tannate) was the mainstay of the treatment for diabetes insipidus until 1990 when manufacture of this product by Parke Davis ceased due to manufacturing difficulties. An aqueous posterior pituitary hormone injection has little use in chronic treatment of Diabetes Insipidus, but an intramuscular injection may give an antidiuretic response lasting usually six hours or less. 2) NON-HORMONAL THERAPY Two types of drugs have been found useful in reducing excessive urination. These include various diuretics (primarily thiazides), and the ADH releasing drugs (including chlorpropamide, carbamazepine and clofibrate). These drugs paradoxically reduce urine volume by reducing extracellular fluid volume while increasing use of the natural vasopressin hormone. These drugs may reduce or eliminate the need for vasopressin in some patients. Hypoglycemia may be a significant adverse reaction to Chlorpropamide therapy. If this occurs, partial or total substitution with Clofibrate or Carbamazepine is sometimes suggested. Because the effects of these three drugs differ from those of the thiazides, the use of one of these agents with a diuretic may show additive effects and be of benefit to some patients. Desmopressin Acetate (DDAVP) nasal spray was approved by the FDA as a treatment for Diabetes Insipidus in 1989. This drug appears to offer enhanced antidiuretic activity with minimal adverse effects on the vascular system or smooth muscles. DDAVP is manufactured by: Rorer Group Inc. 500 Virginia Dr. Fort Washington, PA 19034 A laboratory test is now available to determine if Diabetes Insipidus is the inherited form of he disease (nephrogenic diabetes insipidus) and to identify women who may be carriers of the disease. Therapies: Investigational Research in treating Diabetes Insipidus is ongoing. Prostraglandin synthesis inhibitors under investigation have not shown uniform effectiveness in patient therapy. Use of the orphan drug hydrochlorothiazide-amiloride in the treatment of congenital nephrogenic diabetes insipidus has indicated that treatment with both of these compounds may possibly be more effective than hydrochlorothiazide alone, and can be a satisfactory alternative to the hydrochlorothiazide-prostaglandin synthetase inhibitor combination in the treatment of nephrogenic DI. Clinical trials are underway to study the genetic basis of familial neurogenic Diabetes Insipidus. Interested persons may wish to contact: Dr. Gary L. Robertson Northwestern Memorial Hospital 250 E. Superior St., Rm. 1625 Chicago, IL 60611 (312) 503-0058 to see if further patients are needed for this research. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Diabetes Insipidus, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Diabetes Insipidus & Related Disorders Network RT #2, Box 198 c/o Beth Perry Creston, IA 50801 (515) 782-7838 American Diabetes Association National Service Center 1660 Duke Street Alexandria, VA 22314 (703) 549-1000 (800) ADA-DISC (232-3472) National Diabetes Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 For information on genetics and genetic counseling referrals, please contact: 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References TREATMENT OF NEPHROGENIC DIABETES INSIPIDUS WITH PROSTAGLANDIN SYNTHESIS INHIBITORS: S. Libber, et. al., eds.; J Pediatr (Feb. 1986 issue 108(2). Pp. 305-311. HYDROCHLOROTHIAZIDE-AMILORIDE IN THE TREATMENT OF CONGENITAL NEPHROGENIC DIABETES INSIPIDUS: V. Alon and J.C. Chan; Am J Nephrol (1985, 51). Pp. 9-13. Diabetes, Insipidus s" hG2 J2pagetitle 335: Diabetes, Insipidus 03663.TXT `NONCopyright (C) 1986, 1987, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 220: Diabetes, Insulin-Dependent _________________________ ** IMPORTANT ** It is possible the main title of the article (Insulin-Dependent Diabetes) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Type I Diabetes Juvenile Diabetes Diabetes Mellitus General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Insulin-dependent Diabetes is a disorder in which the body does not produce enough insulin and is, therefore, unable to convert nutrients into the energy necessary for daily activity. The disorder affects females and males approximately equally. Although the causes of insulin-dependent diabetes are not known, genetic factors seem to play a role. Symptoms Normally, sugars and starches (carbohydrates) in the foods we eat are processed by digestive juices into glucose. Glucose circulates in the blood as a major energy source for body functions. Its use is regulated primarily by insulin, a hormone produced by the pancreas gland (located behind the stomach). In the person with diabetes, there is a malfunction in the production of insulin. There are two main types of diabetes: Type I or Insulin-Dependent and Type II or Noninsulin-Dependent. The insulin-dependent type of diabetes generally has onset during childhood or adolescence, though it can occur at any age. Because the pancreas supplies little or no insulin in this disease, daily injections of the hormone and a controlled diet are necessary to regulate blood sugar levels. Insulin is generally effective in preventing glucose buildup, but it is a treatment and not a cure for diabetes. The onset of Insulin-Dependent Diabetes begins with frequent urination, extreme thirst, constant hunger, and unexplained weight loss. Because people with Type I Diabetes lack sufficient insulin, glucose accumulates in the blood to levels too high for the kidneys to excrete. In an effort to remove the excess sugar, the kidneys excrete large amounts of water as well as essential body elements resulting in frequent urination, thirst, and weakness. Hunger and fatigue are caused by the body's inability to utilize foods properly for nourishment and energy. To find alternate sources of energy, the body turns to its stores of fat and protein, causing weight loss and the accumulation of fat breakdown products (acetone and related acids) in the blood. These metabolites of fat produce increased acidity of the blood, and a potentially fatal condition (ketoacidosis) can result if treatment is not prompt. A child with Type I Diabetes may also fail to grow and develop normally. Diabetics of all ages may experience itching of the skin, changes in vision, and slow healing of cuts and bruises. Medical attention should be sought if any of these symptoms occur. The diabetic condition can result in certain long-term complications which may involve many organs of the body. The blood vessels, nervous system, kidneys and eyes are particularly affected. While successful control of blood glucose levels may reduce the risk of complications, the exact relationship between these factors is not fully understood. Studies are being conducted to determine whether strict blood glucose control plays a significant role in preventing or delaying the onset of complications resulting from diabetes. 1. Cardiovascular Complications. Heart and blood vessel diseases such as heart attack, hardening of the arteries (arteriosclerosis), and stroke are the leading causes of illness, disability and death among diabetics. Persons with diabetes are twice as likely to suffer from coronary heart disease and stroke and five times as likely to suffer from arterial disease of the limbs than the non-diabetic population. Exactly how diabetes damages the cardiovascular system is not yet clear. 2. Diabetic Nephropathy (Kidney Disease). Kidney (renal) disease, or diabetic nephropathy, can be a serious complication of diabetes. Normally, the kidneys cleanse impurities from the blood, but diabetes can cause damage to the blood vessels in the kidney and interfere with this vital process. A procedure called hemodialysis is frequently used to remove waste products from the blood when the kidneys can no longer perform this function adequately. Diabetics with serious renal disease may also be candidates for a kidney transplant if a suitable donor organ is available. 3. Diabetic Neuropathy (damage to the nerves). Diabetes can also cause a complication called Diabetic Neuropathy which is damage to the peripheral nerves. These nerves run throughout the body, connecting the spinal cord to muscles, skin, blood vessels, and all other organs. Most importantly, they serve as the primary link between the central nervous system and the entire body. Diabetes is a common cause of peripheral neuropathy; however, this condition can also result from injury, alcoholism, or other factors. Almost all people with diabetes eventually develop some peripheral nerve involvement, but for many, it is slight and produces no symptoms. For the 10 to 25 percent who suffer from serious neuropathy, it can produce problems such as tingling and numbness in the feet, dizziness, impotence, leg pain and double vision. 4. Diabetic Retinopathy (damaged retina). Diabetes is the leading cause of partial loss of vision and new blindness in the United States today. Generally, diabetes affects the retina of the eye and produces a variety of changes referred to as diabetic retinopathy. Less frequent, but no less serious, are several other eye problems caused by diabetes including cataracts, glaucoma, and optic nerve disease. While many persons with diabetes undergo some changes in the retina, only about 3 percent are seriously threatened with blindness. Today, there are approximately 150,000 Americans who suffer significant visual impairment due to diabetic retinopathy. (For more information on this disorder, choose "Diabetic Retinopathy" as your search term in the Rare Disease Database.) Although the way in which diabetes damages eye tissue is not known, two important treatments have been developed in recent years. The first, laser photocoagulation, uses finely focused beams of laser light to seal off and destroy abnormal retinal vessels and diseased tissues. While this treatment does not prevent diabetic changes from taking place, it has proven beneficial in reducing the risk of severe vision loss in many cases. The second technique, vitrectomy, involves surgical removal of cloudy eye fluids that result from blood vessel hemorrhage. This procedure offers hope to people with severely impaired vision resulting from this form of diabetic retinopathy. Scientists continue to explore better use of these techniques as well as the basic causes of eye damage resulting from diabetes. 5. Complications of Pregnancy. Diabetic women run a greater risk of having babies who are stillborn, die in infancy, and suffer from congenital defects than do non-diabetics. It is not uncommon for infants of diabetic mothers to be larger than normal at birth if maternal blood glucose level is elevated. In fact, this is sometimes a warning sign of diabetes in a woman who has not yet been diagnosed with the disorder. Strict attention to control of diabetes is essential during pregnancy to help reduce risks to both mother and baby. Diabetic emergencies which require prompt medical attention include hypoglycemia and ketoacidosis. Hypoglycemia, also called "insulin reaction" or "insulin shock" can occur if the blood sugar level of the person with diabetes falls too low. This results from too much insulin in the system caused by too large a dose of insulin, overly strenuous exercise, or failure to eat shortly after insulin is taken. Although each person may react differently, common symptoms of insulin reaction include trembling, sweating and nervousness. Some persons with diabetes may experience hunger, headache, nausea, drowsiness, or symptoms similar to inebriation. In severe cases of insulin shock, the person with diabetes may even become unconscious. A careful blend of correct amounts of insulin, exercise and food can usually prevent insulin reaction. When hypoglycemia does occur, however, most people with diabetes sense early warning signals and eat or drink something sweet to raise the amount of sugar in the blood. If a person is unconscious, an injection of glucose solution or the hormone glucagon (which stimulates the production of glucose), should be administered. Ketoacidosis, or Diabetic Coma, results from too little insulin in the system. When the body is unable to use glucose for fuel, it draws on its own stores of protein and fat for energy. Acids, or ketones, produced by the excessive breakdown of fat then accumulate in the blood stream quicker than the kidneys can excrete them. Unlike hypoglycemia, the symptoms of ketoacidosis develop slowly over a period of days. The person with diabetes may begin to experience abdominal pain, nausea, vomiting, rapid breathing and drowsiness. If left untreated, ketoacidosis can progress to coma and death. Ketoacidosis can be prevented by careful daily evaluation of insulin needs. Particularly stressful situations such as illness or surgery may require increased amounts of insulin. Most importantly, a person with diabetes should never skip or delay an insulin injection and should pay careful attention to his/her diet. A survey by the U.S. Department of Health, Education and Welfare during 1960 to 1962 on forty-four million adults showed that men and women with diabetes ran a higher than average risk of periodontal disease. Causes The exact causes of Insulin-Dependent Diabetes are not known although most types of diabetes are known to have hereditary factors. Scientists believe that both heredity and environment may play important roles in the development of diabetes. Research suggests that certain viruses, in combination with genetic susceptibility and other unknown environmental factors, may trigger the onset of some types of this disorder. High levels of growth hormone in adolescents and adults under stress may also stimulate the production of glucose by the liver. Affected Population Onset of Insulin-Dependent Diabetes usually occurs before 40 years of age; onset of this type of Diabetes in late adulthood is less common, but it can occur. The disorder affects females and males approximately equally. Two million Americans may be affected by this disorder. Related Disorders Type II Diabetes (Non-Insulin Dependent Diabetes Mellitus) is the more common form of the disorder. Also known as Adult Onset Diabetes, it usually occurs after the age of 40 years. This type of diabetes is not secondary to other diseases or conditions. In many cases, the disorder can be controlled through diet, regular exercise, and sometimes, with oral medications (e.g., chlorpropamide, glypizide, or glyburide). Some scientists believe that people with non-insulin dependent diabetes do not convert glucose (sugar) into its starch-like storage form, glycogen, at the same rate as normal people. Glucose is converted in the muscles. This means that there may be two defects in people with non-insulin dependent diabetes. Glucose may not get into muscle cells normally. The beta cells in the pancreas, which respond to blood glucose levels, work overtime to increase their secretion of insulin. Over a long period of time the beta cells can't keep up their high pace, and they begin to fail. This can cause insulin-dependent diabetes. Therapies: Standard A daily routine of insulin-injection, controlled diet, exercise to burn off glucose, and testing for blood sugar level is vital in achieving and maintaining good blood sugar control in patients with Insulin-Dependent Diabetes. Urine testing for glucose spillage had been a standard recommendation in past years, but has now been replaced with self blood glucose testing. Self monitoring of blood glucose levels uses a single drop of blood which is obtained with a finger stick, and placed on a chemically treated pad on a plastic strip; the color change of the chemically treated pad is compared to a color chart or "read" by a battery operated portable meter. Insulin must be given by injection, usually two or more times each day. Recently portable "insulin pumps" have been developed, which permit continuous administration of insulin, as well as additional amounts of insulin when needed to control the changes in blood sugar level that occurs after meals. Therapies: Investigational In recent years, research supported by the National Institute of Diabetes, Digestive and Kidney Diseases (NIDDK), and other components of the National Institutes of Health, and non profit agencies (See Resources) that fund scientific research on diabetes has yielded new and exciting information on the possible causes and improved management of diabetes and its complications. Scientists have now identified genetic factors that appear to be associated with diabetes - a finding that could lead to methods of prevention of the disorder in genetically susceptible persons. In related studies, the discovery that the insulin-producing beta cells can be infected and destroyed by common viruses could eventually result in the development of a vaccine to prevent diabetes. Pancreas transplantation has had limited success, primarily due to the problem of rejection. However, recent advances in immunology have raised hopes that the problem of rejection reaction common in organ transplantation may be altered or prevented. These findings increase the possibility of transplanting healthy insulin-producing cells to correct the diabetic condition. Recently, a clinical study to assess the effectiveness of a programmable implantable insulin pump for unstable diabetes has been funded by FDA's Orphan Product Grant program. This orphan device is being studied at the University of California at Irvine, CA by Dr. M. Arthur Charles. Although these advances hold great promise for the future, it is important to recognize that they are still in the research phase and are not part of the routine treatment of diabetes. Exciting research on all aspects of diabetes is now being conducted at medical institutions throughout the United States and abroad. The association of heredity, viral infections, the presence of high levels of growth hormone, and immunology has provided new leads in the treatment and gives hope for ultimate prevention of diabetes. New information, based on experiments on mice, has shed new light on the understanding in insulin secretion. The signaling process between glucose stimulation and insulin secretion seems to be under the direct influence of calcium in the cell. How and why insulin secretion is disrupted in diabetes and how this disruption can be prevented or repaired could help lead to finding a cure for diabetes. Scientists are investigating how precise control of diabetes compares to the usual therapies for diabetes in order to learn how best to prevent or delay the serious complications of the disorder. To participate in the Diabetes Control and Complications Trial (DCCT), a person must be between 13 and 39 years of age; had Insulin-Dependent Diabetes for at least one year but not more than 15 years; not have any severe complications such as eye or kidney disease; and not be taking more than 2 insulin injections per day or using an insulin pump. For more information on this study, call: (800) 522-DCCT. This research project is sponsored by the National Institute of Diabetes, Digestive and Kidney Diseases (NIDDK). Transplanting a whole pancreas or a segment of one shows promise in restoring normal insulin production in some Diabetes patients. More than 1,000 pancreas transplants have been performed worldwide, with varying degrees of success. Immunosuppressive drug treatment following transplantation may consists of a combination of cyclosporine, prednisone, and azathioprine (Aza), although these drugs may be slightly toxic in large doses. Because transplant patients will have to undergo a lifetime of immunosuppression, this procedure is recommended only for individuals whose complications are more severe than those caused by immunosuppression. A new therapy aimed at treating persons who may become diabetic in a few years by giving them the immunosuppression drug Imuran is under investigation. More study is necessary to determine the long-term safety and effectiveness of this form of treatment. Clinical trials are underway to study pancreas transplantation and the monitoring of graft function. Interested persons may wish to contact: Dr. A. Osama Gaber University of Tennessee - Memphis 956 Court Ave., Suite G212 Memphis, TN 38163 (901) 528-5924 to see if further patients are needed for this research. Clinical trials are underway to study molecular genetics of heritable insulin resistance (A). Interested persons may wish to contact: Louis J. Elsas, II, M.D. Emory University, Dept. of Pediatrics 2040 Rigewood Dr. Atlanta, GA 30322 (404) 727-5863 to see if further patients are needed for this research. Clinical trials are underway to study the genetic location causing non-insulin diabetes and especially neonatal diabetes. Interested persons may wish to contact: Dr. M. Alan Permutt Washington University School of Medicine Metabolic Division 660 S. Euclid St. Louis, MO 63110 (314) 362-8680 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Insulin-Dependent Diabetes, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Diabetes Association National Service Center 1660 Duke St. Alexandria, VA 22314 (703) 549-1000 (800) ADA-DISC (800) 232-3472) Juvenile Diabetes Foundation International 60 Madison Avenue, 4th Floor New York, NY 10010 (212) 889-7575 National Diabetes Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1360-81. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1069-71. MUSCLES PINPOINTED AS SITE OF DIABETIC DEFECT, Collins, J., Research Resources Reporter, (September 1990, issue 14 (9)). Pp. 1-3. Diabetes, Insulin-Dependent tiveoO rOpagetitle 220: Diabetes, Insulin-Dependent 03664.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 482: Diastrophic Dysplasia _________________________ ** IMPORTANT ** It is possible the main title of the article (Diastrophic Dysplasia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Cherub Dwarf Chondrodystrophy with Clubfeet Diastrophic Dwarfism Information on the following disorders can be found in the Related Disorders section of this report: Achondroplasia Arthrogryposis Multiplex Congenita General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Diastrophic Dysplasia is a hereditary growth disorder characterized by abnormally curved bones, short limbs, joint and hand deformities, and clubfeet. Symptoms Symptoms of Diastrophic Dysplasia are present at birth. Short stature, progressive curvature of the spine (scoliosis) often associated with a hunchback (kyphosis), are major features of this disorder. An open spine in the neck area (cervical spina bifida) occurs in most patients with Diastrophic Dysplasia. The pelvic bones as well as the head of the thigh bone, and the tailbone, may also be deformed. Shortened fingers are present, the small bones in the hand tend to grow together (synostosis of proximal interphalangeal joints), and the thumb is extended in a so-called "hitchhiker position". When the hip or knee joint bear weight, they tend to dislocate. Severe clubfeet on both sides of the body may also occur. Cyst-like swellings on the outer ear during early infancy may later develop into cauliflower-like shapes with or without the cartilage turning into bony tissue (ossification). More than 25% of patients with Diastrophic Dysplasia have a cleft palate. Occasionally a broad nasal bridge, a beak-shaped nose, and a benign tumor made up of blood vessels (hemangioma) on the face may also occur. Intelligence is usually normal. Causes Diastrophic Dysplasia is a hereditary disorder transmitted by autosomal recessive genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Diastrophic Dysplasia is a rare disorder that is present at birth. It affects males and females in equal numbers. Related Disorders Achondroplasia is a skeletal defect which belongs to the group of congenital abnormalities known as "chondrodystrophies". These disorders affect the manner in which cartilage is converted to bone. Skeletal malformation and dwarfism result from growth abnormalities in the bone or cartilage. Symptoms of Achondroplasia begin before birth. Life expectancy for children with Achondroplasia is usually normal. (For more information on this disorder, choose "Achondroplasia" as your search term in the Rare Disease Database.) Arthrogryposis Multiplex Congenita is characterized by reduced mobility of multiple joints at birth due to proliferation of fibrous tissue (fibrous ankylosis). (For more information on this disorder, "Arthrogryposis" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Diastrophic Dysplasia consists of orthopedic management using surgery, braces, casts, and/or manipulations. Appropriate dental treatment and surgical closure of the cleft palate are utilized when necessary. Corticosteroids are injected into the ear to treat the deformity of the cartilage of the affected infant. Genetic counseling is recommended to families of children with Diastrophic Dystrophy. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Diastrophic Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Little People of America Box AMS San Bruno, CA 94066 (415) 589-0695 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1 BS England 01-678-2984 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Road Towson, MD 21204 (301) 337-1250 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 932. DISORDERS OF THE SPINE IN DIASTROPHIC DWARFISM: D. Bethem, et al.; Journal Bone Joint Surg (Am) (1980: issue 62(4)). Pp. 529-536. Diastrophic Dysplasia pagetitle 482: Diastrophic Dysplasia 03665.TXT 7Copyright (C) 1986, 1988, 1992, 1993 National Organization for Rare Disorders, Inc. 74: DiGeorge Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (DiGeorge Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Third and Fourth Pharyngeal Pouch Syndrome Thymic Hypoplasia Thymus, Congenital, Aplasia Thymic Aplasia Congenital Absence of the Thymus and Parathyroids Thymic Agenesis Pharyngeal Pouch Syndrome Harrington Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Hypoparathyroidism Shprintzen Syndrome Agammaglobulinemias, Primary Nezelof Syndrome Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. DiGeorge Syndrome is a very rare group of congenital abnormalities that are the result of defects during early fetal developmental. These defects occur in areas known as the 3rd and 4th pharyngeal pouches which later develop into the thymus and parathyroid glands. Developmental abnormalities may also occur in the 4th branchial arch. Normally the thymus gland is located below the thyroid gland in the neck and front of the chest and is the primary gland of the lymphatic system which is necessary for the normal functioning of the immune system. The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of normal levels of calcium in the blood. The thymus and parathyroid glands are missing or underdeveloped in children with DiGeorge Syndrome. The symptoms of this disorder vary greatly depending on the extent of the missing thymus and parathyroid tissue. The primary problem caused by DiGeorge Syndrome is repeated infections due to a diminished immune system. Symptoms Abnormally low levels of hormone secretions from the parathyroid glands (hypoparathyroidism) are often the first symptom of DiGeorge Syndrome. This may result in seizures during the first few days of life. (For more information, choose "Hypoparathyroidism" as your search term in the Rare Disease Database.) Children with DiGeorge Syndrome who have a severely underdeveloped thymus gland, develop frequent infections from viruses, fungi, and certain bacteria including Pneumocystis carinii. Common symptoms of this disorder include chronic nasal infections, diarrhea, thrush (oral candidiasis), and pneumonia. The majority of children with DiGeorge Syndrome have some thymic tissue. When most of the thymus is present the deficiencies of the immune system may be minimal or absent. Children with DiGeorge Syndrome also have abnormal facial features such as wide set eyes (hypertelorism), a downward slant to the eyes, notched and/or low-set ears, and/or an abnormally small mouth (micrognathia). Structural abnormalities of the heart may also occur in children with DiGeorge Syndrome including malformations of a fetal artery that later develops into the aortic and pulmonary arteries (truncus arteriosus), interrupted aortic arch, and tetralogy of Fallot. (For more information on this disorder, choose "Tetralogy of Fallot" as your search term in the Rare Disease Database.) Some children affected with DiGeorge Syndrome also have abnormalities of the digestive system (gastrointestinal tract) and moderate mental retardation. Causes DiGeorge Syndrome is a very rare disorder that generally occurs spontaneously (for no apparent reason). In a few cases this disorder may be inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In 5 to 10 percent of cases of DiGeorge Syndrome there is missing chromosomal material (deletion) on the long arm of chromosome 22. This disorder occurs in some infants of diabetic mothers or occasionally in infants who are born to mothers who regularly consumed alcohol during their pregnancy (Fetal Alcohol Syndrome). DiGeorge Syndrome also occurs along with a variety of other syndromes such as CHARGE Association. (For more information on these disorders, choose "Fetal Alcohol" and "CHARGE" as your search term in the Rare Disease Database.) DiGeorge Syndrome may also occur in infants with a defect in the metabolism of retinoic acid that occurred very early in fetal development (Retinoic Acid Embryopathy). Faulty development of the fetal tissue that gives rise to tissue of the brain and nerves (cephalic neural crest) is believed to be the common defect (pathogenetic mechanism) involved in all of these conditions. Affected Population DiGeorge Syndrome is a very rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of DiGeorge Syndrome. Comparisons may be useful for a differential diagnosis: Hypoparathyroidism is a disorder that causes lower than normal levels of calcium in the blood due to insufficient levels of parathyroid hormones. This condition can be inherited or it can be associated with other disorders such as DiGeorge Syndrome. Symptoms of this disorder may include general weakness, muscle cramps, and tingling or burning of the hands and feet. Other symptoms may include excessive nervousness, loss of memory, headaches, and uncontrollable cramping muscle movements of the wrists and feet. (For more information on this disorder, choose "Hypoparathyroidism" as your search term in the Rare Disease Database.) Shprintzen Syndrome is a rare inherited disorder. The major characteristics include a cleft palate, heart abnormalities, learning disabilities, and distinct physical features including an abnormally small head, recessed jaw, tubular nose, flat cheeks, long upper jaw, and a long vertical groove in the middle of the upper lip. Children with this disorder may have no thymus gland, or it may be underdeveloped. This causes a deficiency of the immune system and the insufficient production of antibodies. (For more information on this disorder, choose "Shprintzen" as your search term in the Rare Disease Database.) Primary Agammaglobulinemias are a group of inherited antibody deficiency disorders characterized by abnormalities in the function of cells that are associated with the body's immunity (B and T lymphocytes). This causes a susceptibility to recurring bacterial infections. The bacteria, Giardia lamblia, is typically the cause of chronic inflammation of the intestines and diarrhea in patients with all forms of Primary Agammaglobulinemias. (For more information on this disorder, choose "Primary Agammaglobulinemias" as your search term in the Rare Disease Database.) Nezelof Syndrome is a rare immune deficiency disorder characterized by the impairment of cellular immunity against infections. Symptoms of this disorder may include frequent and severe infections from birth including oral candidiasis, diarrhea, skin infections, septicemia, urinary tract infections, measles, pulmonary infections, and vaccinia. A child with this disorder may be mentally retarded and have progressive loss of muscle tissue. (For more information on this disorder, choose "Nezelof" as your search term in the Rare Disease Database.) Severe Combined Immunodeficiency (SCID) is a group of rare, congenital disorders characterized by little or no immune response. A person with this disorder is susceptible to recurring infections with bacteria, viruses, fungi, and other infectious agents. If untreated, this disorder may result in frequent, severe infections, growth retardation, and can be life-threatening. Other symptoms of this disorder may include weight loss, weakness, infections of the middle ear, and skin infections. (For more information on this disorder, choose "Severe Combined Immunodeficiency" as your search term in the Rare Disease Database.) Wiskott-Aldrich Syndrome is a rare inherited disorder of childhood characterized by immunodeficiency that results in recurrent skin rashes (eczema) and abnormally low levels of circulating platelets in the blood (thrombocytopenia). Symptoms of this disorder may include excessive bleeding from circumcision or minor trauma. Bleeding, which can be severe, may also occur in the intestines or stomach. Red skin rashes (petechiae) are common in children with this disorder. (For more information on this disorder, choose "Wiskott-Aldrich" as your search term in the Rare Disease Database.) Therapies: Standard To control infantile seizures associated with DiGeorge Syndrome, blood calcium levels must be increased. Orally administered calcium and vitamin D may be sufficient to control seizure activity. In some cases of DiGeorge Syndrome the immune system tends to improve after the first few years of life unless the thymus gland is missing or severely underdeveloped. When infections occur in children with DiGeorge Syndrome, they must be treated vigorously with antifungal medications, antibiotic drugs, and/or supportive measures. Trimethoprim-sulfamethoxazole and the orphan drug, pentamidine isethionate, are used to treat infections by Pseudomonas carinii. Cytomegalovirus and generalized herpes simplex infections are usually treated with antiviral agents. Severe Candida and related fungi infections may respond to treatment with the drug amphotericin B. (For more information on these disorders, choose "Cytomegalovirus" and "Herpes Simplex" as your search term in the Rare Disease Database.) Patients with severe immunodeficiencies associated with DiGeorge Syndrome must be protected as much as possible from infections. They should not be immunized with live viral vaccines. The administration of corticosteroid drugs or any drug that suppresses the immune system (immunosuppressant) must be avoided. If blood transfusions are necessary due to accidents or surgery, the blood must be exposed to high levels of radiation (irradiated) or "washed" to remove all living white blood cells (lymphocytes) that might cause graft-versus-host disease (GVHD). (For more information on this disorder, choose "Graft Versus Host" as your search term in the Rare Disease Database.) Anatomical abnormalities associated with DiGeorge Syndrome may be corrected with surgery as necessary. Cardiac surgery is often necessary when heart defects are life threatening. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Transplantation of fetal thymus tissue, bone marrow transplantation, and administration of various thymic hormones have been used experimentally to treat severe cases of DiGeorge Syndrome. More research is needed to determine the safety and long-term effectiveness of these procedures for the treatment of DiGeorge Syndrome. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on DiGeorge Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Immune Deficiency Foundation 3565 Ellicott Mill Drive, Unit B2 Ellicott City, MD 21043 (800) 296-4433 (410) 461-3127 Frank Greenberg, M.D. Baylor College of Medicine Department of Molecular Genetics 6621 Fannin Road Houston, TX 77030 (713) 798-4951 Craig B. Langman, M.D. and Samuel S. Gidding, M.D. Children's Memorial Hospital 2300 Children's Plaza Chicago, IL 60614 (312) 880-4000 National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1078-1080. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 1450. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 305, 307, 314. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 961-62. NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman et al; W.B. Saunders Co., 1992. Pp. 553-554. IMMUNODEFICIENCY. R.H. Buckley; J Allergy Clin Immunol (Dec 1983;72(6)) Pp. 627-641. A GENETIC ETIOLOGY FOR DIGEORGE SYNDROME: CONSISTENT DELETIONS AND MICRODELETIONS OF 22q11. D.A. Driscoll; Am J Hum Genet (May 1992; 50(5)). Pp. 924-33. THE DIGEORGE ANOMALY. R. Hong; Immunodefic Rev (1991; 3(1)). Pp. 1-14. DiGeorge Syndrome 8pagetitle 74: DiGeorge Syndrome 03666.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 225: Dilatation of the Pulmonary Artery, Idiopathic _________________________ ** IMPORTANT ** It is possible the main title of the article (Idiopathic Dilatation of the Pulmonary Artery) is not the name you expected. Please check the SYNONYMS listing to find alternate names and disorder subdivisions covered by this article. Synonyms IDPA General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Idiopathic Dilatation of the Pulmonary Artery (IDPA) is a rare congenital defect characterized by a wider than normal main pulmonary artery in the absence of any apparent anatomical or physiological cause. Symptoms Idiopathic Dilatation of the Pulmonary Artery commonly doesn't produce symptoms because there is no circulation abnormality. Clinical signs are minimal and consist of a palpable pulmonary ejection sound which disappears when one inhales, a soft pulmonary ejection systolic murmur (abnormal heart sound) and splitting of the second sound on breathing in. Idiopathic Dilatation of the Pulmonary Artery does not cause pulmonary valve disease, nor does bacterial endocarditis occur in patients with this condition. The electrocardiogram is normal, and diagnosis is made when chest X-rays reveal a dilated pulmonary artery without cardiac chamber enlargement. Causes The cause of Idiopathic Dilatation of the Pulmonary Artery is unknown. A defect in the normal development of pulmonary artery elastic tissue before or after birth has been postulated. The dilatation may also be a consequence of a generalized connective tissue disease as it is occasionally found in Marfan's syndrome or Ehlers-Danlos syndrome. (For more information on these disorders, choose "Marfan" and Ehlers-Danlos" as your search terms in the Rare Disease Database. Therapies: Standard Treatment for Idiopathic Dilatation of the Pulmonary Artery is not required. People with this condition have a normal life expectancy, provided they have no cardiac lesions. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Idiopathic Dilatation of the Pulmonary Artery, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, Maryland 20892 (301) 496-4236 American Lung Association 1740 Broadway New York, New York 10019 (212) 315-8700 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 376. Dilatation of the Pulmonary Artery, Idiopathic= pagetitle 225: Dilatation of the Pulmonary Artery, Idiopathic 03667.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 471: Diverticulitis _________________________ ** IMPORTANT ** It is possible the main title of the article (Diverticulitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Colon, Diverticulitis Information on the following disorders can be found in the Related Disorders section of this report: Diverticulosis Carcinoma of the Colon Familial Polyposis of the Colon General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Diverticulitis is a common digestive disorder characterized by inflammation of one or more of the sacs (diverticula) that can form due to protrusion of the inner lining of the colon through its intestinal wall. Diverticulosis is characterized by small sac-like hernias of mucous tissue protruding through the wall of the large intestine (colon). These so-called diverticula may occur in any part of the colon, but most often in the lowest part (sigmoid). Diverticulosis is a related condition that is characterized by small sac-like hernias of mucous tissue protruding through the wall of the large intestine (colon). These so-called diverticula may occur in any part of the colon, but most often in the lowest part (sigmoid). Perforation of a diverticulum may lead to inflammation or contamination of the surrounding tissues in the abdominal cavity. The inflamed bowel segment often adheres to other parts of the bowel or (in females) the vagina, and an artificial connection with those organs (fistula) may develop. With repeated inflammation, the colon wall thickens, its cavity narrows, and acute obstruction or perforation may occur. Symptoms Diverticulitis is characterized by pain near the groin in the lower part of the abdomen. Other symptoms may include pain when urinating, constipation, diarrhea or other changes in bowel movements, fever or rectal bleeding. Causes Lack of sufficient fiber or bulk in the diet may cause Diverticulosis and Diverticulitis due to the increased pressure in the colon required to have a bowel movement. Other causes have not yet been identified. Affected Population Diverticulosis and Diverticulitis usually affect people over 40 years of age. More than half the United States population is may be affected by these disorders by age 60. Males and females are affected in equal numbers. However, only one in five persons who have Diverticulosis will develop symptoms. Related Disorders There are many digestive diseases that are characterized by symptoms similar to Diverticulitis and Diverticulosis. For more information, choose "digestive" as your search term in the Rare Disease Database. Carcinoma (Adenocarcinoma) of the Colon is characterized by pain in the lower abdomen, constipation or diarrhea, excessive gas (flatulence), liquid narrow feces streaked with blood, and nausea. Patients with this disorder lose weight excessively. The cause of this type of cancer is unknown. It may be associated with polyps or ulcerative colitis. This cancer tends to run in families and has a peak incidence between the ages of 50 and 60. Familial Polyposis of the Colon is a genetic disorder of the colon. Symptoms may not be noticeable for years. A polyp is a mass of tissue that arises from the mucous membrane of the colon and protrudes into its cavity. Familial Polyposis is characterized by rectal bleeding, possibly diarrhea or constipation, intermittent abdominal pain and weight loss. The polyps usually develop during puberty or early adulthood. Untreated patients with Familial Polyposis may later develop colon cancer. (For more information on this disorder, choose "Polyposis" as your search term in the Rare Disease Database.) Therapies: Standard Diverticulosis and Diverticulitis may be treated by a diet high in fiber; e.g., whole wheat bread, bran cereal, etc. Harsh laxatives and straining during bowel movements should be avoided to decrease discomfort. Antibiotics such as ampicillin and pain-killing drugs may be prescribed in some cases of Diverticulitis. In most cases an appropriate diet can reduce or eliminate symptoms so that further treatment may not be required. If severe bleeding occurs, immediate hospitalization and close observation are necessary. Blood transfusions may be required as well as intravenous fluids. With recurrent Diverticulitis or with an increasing degree of bladder obstruction, surgery may be necessary to remove the affected part of the colon. This procedure can be performed in steps during an inactive phase of the disorder. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Diverticulitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 References INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al., eds.; Little Brown, 1987. Pp. 168-171. AN IDEAL OPERATION FOR DIVERTICULITIS OF THE COLON: R.O. Gregg; American Journal Surg (March 1987: issue 153(3)). Pp. 285-290. ARE WE REALLY OPERATING ON DIVERTICULITIS?: R.E. Breen, et al.; Diseases Colon Rectum (March 1986: issue 29(3)). Pp. 174-176. Diverticulitis pagetitle 471: Diverticulitis 03668.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 464: Diverticulosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Diverticulosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Diverticulosis of the Colon Colon, Diverticulosis Information on the following disorders can be found in the Related Disorders section of this report: Carcinoma of the Colon Diverticulitis Familial Polyposis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Diverticulosis is characterized by small sac-like hernias of inner intestinal tissue protruding through the muscular wall of the large intestine (colon). These so-called diverticula may occur in any part of the colon, but most frequently in the lowest part (sigmoid). Symptoms Diverticulosis is characterized by small sac-like bodies (diverticula) which protrude through the wall of the colon. The diverticular wall consists of a thin layer of mucous membrane tissue. Diverticula can vary in size from 0.1 inch to larger than 1 inch in diameter, and are frequently responsible for bleeding from the rectum. Diverticulitis occurs when diverticula become infected. However, until this occurs most persons with diverticula show no symptoms. Causes Diverticulosis may be caused by a highly refined diet lacking sufficient fiber and bulk. The lack of bulk may cause muscle spasms of the colon, especially in the lower section called the sigmoid. Pressure inside the colon builds up and the mucous tissue eventually pushes through the muscular coat of the colon, usually where the blood vessels pierce the muscle. Ulceration of the diverticulum may occur causing rectal bleeding. Chronic constipation may also cause Diverticulosis. If the sacs become infected Diverticulosis becomes Diverticulitis. (For more information, see the Related Disorders section of this report.) Affected Population Diverticulosis is a common disorder affecting 30 to 40% of persons over age 50. The incidence increases with each subsequent decade of life. It affects males and females in equal numbers. Diverticulitis is less common than Diverticulosis. Related Disorders Diverticulitis is characterized by inflammation of one or more diverticula. Perforation of a diverticulum may lead to inflammation or contamination of the surrounding tissues in the abdominal cavity. The inflamed bowel segment often adheres to other parts of the bowel or the vagina. An abnormal connection to those organs (fistula) may develop. With repeated inflammation, the colon wall thickens, its cavity narrows, and acute obstruction or perforation may occur. Carcinoma (Adenocarcinoma) of the Colon is characterized by pain in the lower abdomen, constipation or diarrhea, excessive gas (flatulence), liquid narrow feces streaked with blood, and nausea. Patients with this disorder lose weight. The cause of this type of cancer is unknown. It may be associated with polyps or ulcerative colitis. This cancer tends to run in families and has a peak incidence between the ages of 50 and 60. Familial Polyposis of the Colon is a genetic digestive disorder that is usually without noticeable symptoms for years. A polyp is a mass of tissue that arises from the mucous membrane of the intestine and protrudes into its cavity. Familial Polyposis is characterized by rectal bleeding, possibly diarrhea or constipation, intermittent abdominal pain and weight loss. The polyps usually develop during puberty or early adulthood. Untreated patients with Familial Polyposis have a very high risk of developing colonic cancer. (For more information, choose "Polyposis" as your search term in the Rare Disease Database.) Therapies: Standard Diverticulosis may be treated by a diet high in fiber; e.g. whole wheat bread, bran cereal, etc. Application of heat, adequate rest, a diet with substantial bulk and medication usually relieve symptoms. Small doses of the barbiturate drug phenobarbital, and the anticholinergic muscle relaxant belladonna, may also relieve abdominal distress. If severe bleeding occurs, immediate hospitalization, blood transfusions, and close observation are necessary. Surgery may occasionally be required to treat severe bleeding. If the source of the bleeding can be identified, that segment of the colon may be removed. In very severe cases, removal of the whole colon may be recommended. This surgical procedure can be performed in steps to reduce the risk in elderly patients. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Diverticulosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2168 References Internal Medicine, 2nd ed.: Jay H. Stein, et al., eds. Little, Brown, 1987. Pp. 168-179. FINDINGS IN PATIENTS WITH DIVERTICULOSIS AND DIVERTICULITIS OF THE COLON: E.J. Lubbers, et al.; Arch Chir Neerl (1976: issue 28(3)). Pp. 179-186. COLONIC BLEEDING IN THE ELDERLY: K.V. Avots-Avotkin, et al.; Clin Geriatr Med (May 1985: issue 1(2)). Pp. 433-443. Diverticulosis pagetitle 464: Diverticulosis 03669.TXT Copyright (C) 1984, 1985, 1987, 1988, 1990, 1992 National Organization for Rare Disorders, Inc. 34: Down's Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Down's Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Mongolism Trisomy 21 Syndrome Chromosome 21, Mosiac 21 Syndrome Chromosome 21, Translocation 21 Syndrome Trisomy G Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Chromosome X, Poly X General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Down's Syndrome is the most common and readily identifiable genetic condition associated with mental retardation. Facial, skeletal, and frequently cardiac abnormalities are among the more the 50 features seen in this syndrome. It is rare to find all symptoms or even most of them in one person with Down's Syndrome. Symptoms Some common characteristics of Down's Syndrome include an usually small head (microencephaly); a small mouth; a flat nasal bridge; white (Brushfield) spots in the iris of the eyes; a downward slant to the eyes with a fold of skin on the inner corners (epicanthal folds); small ears that may be folded over at the top; a short neck; a transverse (Simian) crease on the palm of the hands; and poor muscle tone (hypotonia). All children with Down's Syndrome have some degree of mental retardation. Generally this retardation is in the mild to moderate range, but sometimes it can be profound. Approximately 50 percent of children with Down's Syndrome have some form of congenital heart disease. They are prone to respiratory, eye, and ear problems. These children are 20 times more likely to develop leukemia than the general population. It is believed that leukemia itself is not inherited but results from an increased genetic susceptibility to environmental factors that may cause leukemia. The life expectancy of people with Down's Syndrome is close to normal. Causes In Down's Syndrome, the mental and physical abnormalities develop due to the presence of an extra chromosome contributed by either the egg or the sperm cell. There are a total of 47 chromosomes instead of the normal 46. Trisomy 21, with three copies of chromosome 21, is the most common form of Down's Syndrome. Affected Population Down's Syndrome occurs in approximately 1 in 800 live births. It is estimated that 7,000 children are born with Down's Syndrome in the United States each year. The incidence is higher for children born to women and men over the age of 35. The most common forms of the syndrome do not usually occur more than once in a family. All races and economic levels are affected equally. Related Disorders Symptoms of the following disorders can be similar to those of Down's Syndrome. Comparisons may be useful for a differential diagnosis: Chromosome X, Poly X Syndrome is a rare chromosomal abnormality that is the result of the presence of extra X chromosome (at least three or four extras). This disorder occurs in females only and the facial features sometimes resemble those of Down's Syndrome. The major features of this condition may include short stature, delayed growth, a short neck, small head (microencephaly), flat nasal bridge, low-set ears and mild to moderate mental retardation. Other features may include eye and ear defects, joint defects and dental abnormalities. (For more information about other disorders characterized by mental retardation, choose "Mental Retardation" as your search term on the Rare Disease Database). Therapies: Standard Down's Syndrome and its basic features cannot be altered. However, children with Down's Syndrome can benefit from early intervention programs such as those recommended by the Association for Retarded Citizens (ARC) and the Association for Children with Down's Syndrome, and other agencies listed in the "Resources" section of this report. Parent and infant education can begin immediately after birth. The individual child receives direct service programming to develop learning, language, mobility, self care and socialization skills. Toddler and preschool programs further enhance the acquisition of skills to enable people with Down's Syndrome to reach their maximum potential. Heart defects may require surgery during infancy or childhood. Prenatal tests are available to determine whether a fetus has Down's Syndrome before birth. Therapies: Investigational Down's Syndrome, as well as other similar disorders, are the focus of ongoing scientific investigations. Studies are underway to determine the complex structure of chromosomes and the genes that are contained in all chromosomes, including chromosome 21. This disease entry is based upon medical information available through October 1992. Since NORD'S resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Down's syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Association for Children with Down's Syndrome 2616 Martin Avenue Bellmore, NY 11710 (516) 221-4700 National Down's Syndrome Congress 1640 West Roosevelt Road Chicago, IL 60608 (312) 226-0416 (800) 446-3835 National Association for Down's Syndrome P.O. Box 63 Oak Park, IL 60303 (312) 325-9112 National Down's Syndrome Society 70 West 40th Street New York, NY 10018 (212) 765-3070 (800) 221-4602 National Center for Down's Syndrome 9 Westbourne Road EDG Baston Birmingham, B-15, England (021) 454-3126 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 National Association for Retarded Citizens of the U.S. (ARC) P.O. Box 6109 Arlington, TX 76005 (817) 640-0204 (800) 433-5255 National Institute of Mental Retardation (Canadian Association for the Mentally Retarded) York University Kinsmen NIMR Building 4700 Keele Street Downsview, Ontario M3J 1P3 Canada (416) 661-9611 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 10-12, 13-15. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 167-70. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 391-392. NELSON TEXTBOOK OF PEDIATRICS, 14TH Ed.; Richard E. Behrman, Editors; W.B. Saunders Company, 1991. Pp. 282-284. CLINICAL ASPECTS OF DOWN SYNDROME FROM INFANCY TO ADULTHOOD, S.M. Pueschel; Am J Med Genet Suppl (1990; 7): Pp. 52-56. Down's Syndrome AL D# & pagetitle 34: Down's Syndrome 03670.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 516: Dracunculosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Dracunculosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Dracontiasis Dracunculiasis Fiery Serpent Infection Guinea Worm Infection General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dracunculosis is an infection caused by a parasitic worm known as Dracunculus medinensis, the guinea worm. Infected water fleas release the larvae of the worm into drinking water. Ingestion of contaminated water causes the larvae to migrate from the intestines via the abdominal cavity to the tissue under the skin. The larvae mature and release a toxic substance that makes the overlying skin ulcerate. After treatment, symptoms disappear and the worms can be safely removed from the skin. Symptoms Dracunculosis is characterized by chronic skin ulcers. Tissue under the skin is infiltrated by developing larvae of the parasitic worm known as Dracunculus medinensis, or Guinea worm. A female worm ready to release larvae produces stinging elevated spots (papules), causing redness and itching of the skin. These symptoms may be an allergic reaction to the parasite. The spots form blisters and later rupture, developing into painful ulcers. Multiple ulcers (usually on the legs) are common. Without treatment, the worms are absorbed or protrude from the skin over a period of several weeks. Causes Dracunculosis is caused by swallowing water containing small, barely visible water fleas which carry the larva of the parasitic Guinea worm (Dracunculus medinensis). Affected Population Dracunculosis affects people in regions of Africa, the Middle East, and India, where drinking water is contaminated with the guinea worm (Dracunculus medinensis). Therapies: Standard Diagnosis of Dracunculosis is made after finding larvae of the Dracunculus medinensis worm during microscopic examination of fluid discharged from a blister. The disorder is treated with a drug used against parasitic flukes (antischistosomal) niridazole, or drugs used against worms (antihelmintic) thiabendazole or metronidazole. Treatment with these drugs promptly relieves symptoms and allows safe removal of the worms. Chlorination, boiling, and straining of contaminated drinking water in areas of the world with poor sanitation can prevent transmission of Dracunculosis. Therapies: Investigational This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dracunculosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References THE COMPARATIVE STUDY OF PATTERNS OF GUINEA WORM PREVALENCE AS A GUIDE TO CONTROL STRATEGIES: S.J. Watts, et al.; Soc Sci Med (1986: issue 23(10)). Pp. 975-982. DRACUNCULUS ORCHITIS: A CASE REPORT: A. K. Pendse, et al.; J Trop Med Hyg (June 1987: issue 90(3)). Pp. 153-154. CONTROLLED COMPARATIVE TRIAL OF THIABENDAZOLE AND METRONIDAZOLE IN THE TREATMENT OF DRACONTIASIS: O.O. Kale, et al.; Ann Trop Med Parasitol (April 1983: issue 77(2)). Pp. 151-157... Dracunculosis pagetitle 516: Dracunculosis 03671.TXT *Copyright (C) 1993 National Organization for Rare Disorders, Inc. 954: Drash Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Drash Syndrome) is not the name you expected. PLease check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Denys-Drash Syndrome Nephropathy-Pseudohermaphroditism-Wilms Tumor Pseudohermaphroditism-Nephron Disorder-Wilms Tumor Wilms Tumor and Pseudohermaphroditism Wilms tumor-Pseuodohermaphroditism-Glomerulopathy Wilms Tumor-Pseudohermaphroditism-Nephropathy Information on the following diseases can be found in the Related Disorders section of this report: Congenital Adrenal Hyperplasia Klinefelter Syndrome 17-Beta Hydroxysteroid Dehydrogenase Deficiency Reifenstein Syndrome Wilms' Tumor General Discussion **REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Drash Syndrome is a very rare disorder that typically appears for no apparent reason (sporadically). In rare cases it may be inherited as an autosomal dominant trait. This disorder usually appears early in life. In it's complete form it is characterized by the combination of abnormal kidney function, genital abnormalities (pseudohermaphroditism), and a cancerous tumor of the kidney called a Wilms' tumor. Some patients may have the incomplete form of Drash Syndrome which consists of abnormal kidney function with either genital abnormalities (pseudohermaphroditism) or Wilms' tumor. This disorder predominantly affects males but a few female cases have been reported. Symptoms Major symptoms of the complete form of Drash Syndrome are abnormal kidney function, a cancerous tumor of the kidney called a Wilms' Tumor, and a condition in which a person has the body traits of both sexes along with either male testicles or female ovaries (pseudohermaphroditism). When a patient has the incomplete form of Drash Syndrome abnormal kidney function with either pseudohermaphroditism or Wilms' Tumor are present. Kidney disease of Drash Syndrome often leads to complete malfunctioning of the kidney's which requires maintenance on hemodialysis or an organ transplant. Wilms' Tumor, which is one of the characteristics of Drash Syndrome, is the most common form of kidney cancer in children. The exact cause is not known although it is thought to be inherited in some cases. Abdominal swelling is the most common symptom typically leading to early detection. Other signs of Wilms' Tumor may include blood in the urine, low-grade fever, loss of appetite, paleness, weight loss, and/or lethargy. (For more information on this disorder choose "Wilms' Tumor" as your search term in the Rare Disease Database). Pseudohermaphroditism is another symptom of Drash Syndrome. This is a condition in which a person has the body traits of both sexes though having either male testicles or female ovaries. Males with this disorder may not develop external sexual organs until puberty. Some patients with Drash Syndrome may develop malignancies of the testes or ovaries; abnormalities of the reproductive and urinary systems; an abnormal backflow of urine from the bladder to the tubes that carry urine from the kidney into the bladder (vesicoureteral reflux); swelling in the pelvis due to urine that cannot flow past a blockage in the tubes that carry urine from the kidney into the bladder and/or cyst formation (hydronephrosis). Causes Most cases of Drash Syndrome appear for no apparent reason (sporadically). There have been some cases thought to be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Drash Syndrome is a very rare disorder that predominantly affects males although the disorder has been reported in a few females. There have been approximately 30 cases described in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Drash Syndrome. Comparisons may be useful for a differential diagnosis: Congenital Adrenal Hyperplasia is a group of disorders resulting from defective synthesis of the corticosteroid hormones of the adrenal gland. The adrenal gland becomes enlarged because it tries to produce more and more of the hormones to compensate for their lack of effectiveness. The adrenal gland produces "male" sex hormones (androgens) in both males and females. Because these are overproduced in certain forms of Congenital Adrenal Hyperplasia, the external genitalia of some females with this disorder are masculinized to various degrees. Lack of glucocorticoids, especially cortisol, causes various kinds of metabolic problems. Lack of mineralocorticoids, primarily aldosterone, causes salt and water imbalances. (For more information on this disorder choose "Adrenal Hyperplasia" as your search term in the Rare Disease Database). Klinefelter Syndrome is a rare disorder resulting from too many X chromosomes. This disorder affects males only and is characterized by unusually small testes, lack of sperm, enlarged mammary glands and an abnormally small penis. There may also be retardation of sex organ development, an absence of facial and body hair, lack of muscular development and a high pitched voice. (For more information on this disorder, choose "Klinefelter Syndrome" as your search term in the Rare Disease Database). 17-Beta Hydroxysteroid Dehydrogenase Deficiency (also known as 17-Ketosteroid Reductase Deficiency and 17-Beta HSD) is a disorder in which the production of steroids is impaired. Male pseudohermaphroditism is present and there is no enlargement of the adrenal gland. This genetic defect is inherited as either autosomal recessive or X-linked trait. Reifenstein Syndrome is a hereditary form of male pseudohermaphroditism. The male has testes but possesses both male and female sexual characteristics. The severity of androgen (male hormone) insensitivity determines how this syndrome will present itself. In mild cases of androgen resistance, infertility may be the only symptom. More severe cases may result in hardening of the tubules in the testes, failure of one or both testes to descend, an abnormal penis in which the urethra opens on the underside, and development of male breasts. The degree of feminization at puberty is not as marked as in other forms of pseudohermaphroditism. (For more information on this disorder, choose "Reifenstein Syndrome" as your search term in the Rare Disease Database). Wilms' Tumor is the most common form of kidney cancer in children, accounting for six to eight percent of all childhood cancers. The exact cause is not known, although it is thought to be inherited in some cases. This disorder may occur alone or as a part of Drash Syndrome. Abdominal swelling is the most common symptom usually leading to early detection of the disorder. Other symptoms of Wilms' Tumor may be blood in the urine, low-grade fever, loss of appetite, paleness, weight loss, and/or lethargy. (For more information on this disorder choose "Wilms" as your search term in the Rare Disease Database). Therapies: Standard Patients with progressive kidney failure can be maintained on dialysis, a machine that cleanses toxins from the blood which would ordinarily leave the body through urine. Some patients may choose to undergo transplant surgery. Removal of the ovaries or testes may be recommended to avoid malignancy. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Drash Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Kidney Foundation 2 Park Ave. New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (in Maryland) American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. P. 984. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1780-81. A CASE REPORT OF DRASH SYNDROME IN A 46,XX FEMALE: T.L. Melocoton, et al.; Am J Kidney Dis (October, 1991, issue 18(4)). Pp. 503-8. A REPORT OF 4 PATIENTS WITH DRASH SYNDROME AND A REVIEW OF THE LITERATURE: J.C. Jensen, et al.; J Urol (May, 1989, issue 141(5)). Pp. 174-6. THE DRASH SYNDROME REVISITED: DIAGNOSIS AND FOLLOW-UP: A.L. Friedman, et al.; Am J Med Genet Suppl (1987, issue 3). Pp. 293-6. Drash Syndrome +pagetitle 954: Drash Syndrome 03672.TXT pagetitle 224: Duane Syndrome Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 224: Duane Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Duane Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Retraction Syndrome Stilling-Turk-Duane Syndrome Eye Retraction Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Duane Syndrome is an eye disorder characterized by limitations in the movement of the eye needed to focus. It is hereditary and most commonly affects males. Symptoms Duane Syndrome is generally restricted to one eye. The affected eye shows defective horizontal mobility. The ability to move the eye away from the center (abduction) is reduced or absent. Movement of the eye toward the center (adduction) is limited, and there may be weakness in focusing (convergence). Attempted eye movements result in retraction of the eyeball. An abnormally small eye (microphthalmus), an unusually small cornea (microcornea), and a conically shaped cornea (keratoconus) may also often occur. The disorder is not degenerative and the symptoms remain stationary. Causes Duane Syndrome is an autosomal dominant hereditary disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Innervation of the nerves that cause eye movements and of the facial nerve is abnormal in this disorder. Affected Population Duane Syndrome occurs more frequently in males than in females. Related Disorders Duane Syndrome may sometimes occur in conjunction with the following disorders. 1. Holt-Oram Syndrome, a hereditary heart disease (usually an atrial or septal defect) associated with skeletal malformation. 2. Klippel-Feil Syndrome, characterized by fused cervical vertebrae, and many other symptoms in addition to those of Duane Syndrome. 3. Spina Bifida Cervicalis, a developmental abnormality characterized by defective closure of the vertebral bones over the spinal cord in the neck area. Therapies: Standard Treatment of Duane Syndrome is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Duane Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, Maryland 20892 (301) 496-5248 National Association for Parents of the Visually Impaired, Inc. (NAVPI) P.O. Box 180806 Austin, Texas 78718 (512) 459-6651 American Foundation for the Blind (AFB) 1010 Vermont Ave., NW, Suite 1000 New York, New York 10011 (202) 393-3666 National Association for the Visually Handicapped 305 East 24th Street, Rm. 17-C New York, New York 10010 (212) 889-3141 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 208. Duane Syndrome 03673.TXT Copyright (C) 1990, 1991 National Organization for Rare Disorders, Inc. 731: Dubin Johnson Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Dubin Johnson Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Conjugated Hyperbilirubinemia DJS Hyperbilirubinemia II Chronic Idiopathic Jaundice Information on the following diseases can be found in the Related Disorders section of this report: Rotor Syndrome Cirrhosis, Primary Biliary Hepatitis B General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dubin Johnson Syndrome is a rare genetic liver disorder that tends to affect people of Middle Eastern Jewish heritage disproportionately to other groups. It appears to be associated with clotting factor VII in this population. Symptoms may include a yellowish color to the skin (jaundice), and a liver that is sometimes enlarged and tender. Symptoms Jaundice, which is caused by excess bilirubin (bile pigment), is usually the only symptom of Dubin Johnson Syndrome. Otherwise a physical examination is normal. The disorder rarely appears before puberty. Occasionally the patient may have an enlarged and tender liver and complain of weakness and a painful abdomen, but the liver will function normally. There will be a longer than normal retention of sulfobromophthalein, which is a triphenylmethane derivative excreted by the liver and used in testing its function. There may sometimes be a mild recurrence of the jaundice. Pregnancy or use of oral contraceptives may cause the disease to become apparent in women when no symptoms appeared previously. Causes Dubin Johnson Syndrome is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Dubin Johnson Syndrome is a rare disease that affects males and females in equal numbers. The disorder can occur in all races. However, among Iranian, Iraqi and Moroccan Jews the incidence is as high as 1 in 1300. In Japan an unusually high incidence of Dubin-Johnson Syndrome was found in an isolated area where there was a high rate of intermarriage. Age at onset can be anytime between 10 weeks of age to 56 years. Related Disorders Symptoms of the following disorders can be similar to those of Dubin Johnson Syndrome. Comparisons may be useful for a differential diagnosis: Rotor's Syndrome is very similar to Dubin Johnson Syndrome in that the main symptom is a yellow coloring to the skin (jaundice). However, the liver maintains a normal color. Rotor's Syndrome is very rare. Primary Biliary Cirrhosis is a chronic progressive liver disorder thought to be related to abnormalities of the immune system. Obstruction of the small bile ducts is accompanied by yellow discoloration of the skin (jaundice). Excessive amounts of copper accumulate in the liver, and fibrous or granular hardening (induration) of the soft liver tissue develops. This disorder occurs mainly in women during the fourth to the seventh decade of life, and is marked by four progressive stages. (For more information on this disorder, choose "Cirrhosis, Primary Biliary" as your search term in the Rare Disease Database). Hepatitis B Virus (HBV) is one of three viruses which cause inflammation of the liver known as "Hepatitis". Hepatitis B is characterized by fever, nausea, vomiting and yellow discoloration of the skin (jaundice). In its most serious form Hepatitis B can become a chronic infection, or may cause liver cancer if left untreated. The hepatitis B virus can be passed from mother to unborn child, and is highly contagious through bodily fluids such as blood, semen and possibly saliva. It is often spread from person to person through intravenous drug use. (For more information on this disorder, choose "Hepatitis B" as your search term in the Rare Disease Database). There are many other liver disorders that can cause jaundice. For more information about these conditions choose "Jaundice" as your search term in the Rate Disease Database. Therapies: Standard Treatment of Dubin Johnson Syndrome is symptomatic and supportive. In many cases patients may require no treatment even though they have recurrent mild jaundice. However, metabolism of certain drugs may be affected in patients with Dubin-Johnson Syndrome since many pharmaceutical products are metabolized in the liver. Therefore, medications should be carefully supervised by a physician. Genetic counseling may be of benefit for patients and their families affected by Dubin Johnson Syndrome. Therapies: Investigational The FDA has approved the following drug for testing as treatment for Dubin Johnson Syndrome: The orphan drug Zixoryn (flumecinol) is being tested for treatment of hybilirubinemia in newborn infants unresponsive to phototherapy. The drug is manufactured by Farmacon, Westport, CT. This disease entry is based upon medical information available through May 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dubin Johnson Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Liver Foundation 1425 Pompton Ave. Cedar Grove, N.J. 07009 (201) 857-2626 (800) 223-0179 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 Children's Liver Foundation 14245 Ventura Blvd. Sherman Oaks, CA 91423 (818) 906-3021 Jewish National Foundation for Genetic Diseases 250 Park Ave. Suite 1000 New York, NY 10177 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 996. THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1405-1409. BILE SALT TRANSPORT IN THE DUBIN-JOHNSON SYNDROME, J.G. Douglas, et al.; Gut (October, 1980, issue 21 (10)). Pp. 890-893. Dubin Johnson Syndromee h pagetitle 731: Dubin Johnson Syndrome 03674.TXT Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 198: Dubowitz Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Dubowitz Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Intrauterine Dwarfism Information on the following disease can be found in the Related Disorders section of this report. Bloom Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dubowitz Syndrome is a possible autosomal recessive hereditary disease characterized by short stature and a peculiar facial structure. Onset of this very rare developmental disorder is before or immediately after birth. Symptoms Children with Dubowitz Syndrome show a low birth weight; usually about 5 lb. at full term. Other symptoms may include: 1. Short stature, 2. Facial irregularities such as a relatively high nasal bridge, 3. Low ridges over the eyes (hypoplasia of supraorbital ridges), 4. Abnormalities of the jaw area (zygoma, malar eminence, mandible), 5. Eyes set wide apart (ocular hypertelorism), 6. Narrow drooping eyelids (ptosis and blepharophimosis), 7. Prominent ears, 8. Occasionally a cleft palate, 9. High-pitched voice, 10. Delay in eruption of the teeth, 11. Dental decay, 12. Thickening of the skin, 13. Eczema of face, ears, knees and elbows, 14. Sparseness of hair. Some children with Dubowitz Syndrome may be mildly mentally retarded, but most have normal intelligence with some memory deficits and/or learning disabilities, and they are hyperactive. Their speech usually sounds abnormal. Causes Dubowitz Syndrome is possibly an autosomal recessive hereditary disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) The genetic defect causes intrauterine (before birth) or postnatal (after birth) growth retardation. In some cases, a recessive mode of inheritance cannot be identified and it is presumed to be a spontaneous mutation. Affected Population Both sexes are equally affected by Dubowitz Syndrome. It is a very rare developmental disorder. Related Disorders Bloom syndrome is a hereditary form of dwarfism accompanied by abnormalities of the facial skin. Unusual sensitivity to sunlight and poor resistance to infections are symptoms of this disorder. Later in life, cancers may develop. Males of Eastern European Jewish descent are predominantly affected. Therapies: Standard Treatment of Dubowitz Syndrome is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dubowitz Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dubowitz Syndrome Support Group Network R.R. 1, Box 114 Downs, IL 61736 (309) 724-8407 Parents Support for Dubowitz Syndrome Rt. #5, Box 87 Vincennes, IN 47591 (812) 882-4210 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 92-3. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 908. Dubowitz Syndrome pagetitle 198: Dubowitz Syndrome 03675.TXT Copyright (C) 1986, 1988, 1991, 1992 National Organization for Rare Disorders, Inc. 208: Duhring Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Duhring Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dermatitis Herpetiformis Dermatitis Multiformis Gluten-Sensitive Enteropathy GSE Brocq-Duhring Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Duhring Disease is a familial disease characterized by a chronic eruption of clusters of intensely itchy blisters, papules, and slightly elevated patches on the skin. The cause of this disorder is unknown and occurs more commonly in males than females. Symptoms Onset of Duhring Disease is usually gradual. Tiny blisters (vesicles), small, circumscribed, solid elevations of the skin (papules), and itchy, smooth, slightly elevated patches which are either redder or paler than the surrounding skin (urticaria-like lesions) appear. They are usually distributed symmetrically on elbows, knees, buttocks, head, and sacrum (the lowest bone at the end of the vertebral column). Blisters and papules are not uncommon on the face and neck. Itching and burning are sometimes severe, and scratching often obscures the lesions. Direct IF tests for Immunoglobulin A (IgA) deposition in the dermal papillary tips or at the junction of the layers of the skin around the affected areas are almost always positive and provide an important diagnostic aid. Causes The cause of Duhring Disease is not known. However, several immunologic abnormalities have been demonstrated including Immunoglobulin A (IgA) deposits in almost all normal-appearing and perilesional skin. Seventy-five to 90% of patients with the disorder as well as many of their relatives have asymptomatic gluten-sensitive disease of the intestine (enteropathy). Affected Population Onset of Duhring Disease can occur at any age, but it usually appears in middle adult life. It is uncommon in children, and occurs more frequently in males than in females. Therapies: Standard Patients with Duhring's Disease are treated with dapsone which usually relieves symptoms within 1 or 2 days and improves the rash; a dramatic relief in itching is usually seen in 1 to 3 days. Sulfapyridine may be used as an alternative. As hematologic changes are the most common side effects of dapsone, persons taking this drug should have their blood count checked periodically. Therapies: Investigational The orphan drug sulfarr pyridine has received FDA approval for the treatment of dermatitis herpetiformis (Duhring Disease). This drug is manufactured by Jacobus Pharmaceutical Company of Princeton, NJ. Clinical trials are underway to study the relationship of the intestinal tract and the skin in patients with Dermatitis Herpetiformis. Interested persons may wish to contact: Russell P. Hall, III, M.D. Box 3135 Duke University Medical Center Durham, NC 27710 (919) 684-3110 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Duhring Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Gluten Intolerance Group of North America Box 23053 Seattle, WA 98012-0353 (206) 325-6980 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Duhring Disease Augu# pagetitle 208: Duhring Disease 03676.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 667: Dupuytren's Contracture _________________________ ** IMPORTANT ** It is possible that the main title of the article (Dupuytren's Contracture) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Information on the following diseases can be found in the Related Disorders section of this report: Knuckle Pads General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dupuytren's Contracture is a disease of the fibrous tissue. The major symptom is a drawing up (contracture) of the palms of the hands, due to an overabundance of fibrous tissue. Symptoms Dupuytren's Contracture is characterized by a drawing up of the fingers toward the palms of the hand. The feet are rarely involved. Loss of function of the fingers and deformities may also occur, including nodular growths on the fingers. One or both hands may be affected. The right hand seems to be more frequently involved when involvement is only one sided (unilateral). The ring finger is involved most often, followed in order by the little, middle and index fingers. A nodule or plaque may develop as the first symptom on the finger. Symptoms may develop spontaneously and without any known associated condition. In other cases liver disease, alcoholism, pulmonary tuberculosis or diabetes mellitus may occur in conjunction with Dupuytren's contracture. Causes Dupuytren's Contracture is a disease of the fibrous tissue. Its cause is unknown, but it is thought to be inherited as an autosomal dominant trait with variable penetrance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Incomplete penetrance means that all characteristics of a particular trait may not be manifested in all those who inherit the gene. Variables that affect Dupuytren's Contracture are listed below in decreasing order: 1. Age (over age 40) 2. Total Alcohol Consumption 3. Sex (Male) 4. Previous Hand Injury In alcoholics, variables are: 1. Age 2. Previous Hand Injury In non-alcoholics, variables are: 1. Age 2. Cigarette Smoking Affected Population In Dupuytren's Contracture men are more often affected than women. The incidence increases after the age of 40, and is higher in chronic invalids, alcoholics, epileptics and patients with pulmonary tuberculosis or diabetes mellitus. It may also appear after a heart attack (myocardial infarction). Dupuytren's Contracture mainly affects adult caucasians and is rare in children and black people. Patients with Dupuytren's Contracture may also have the associated symptoms of Peyronie Disease. This disorder is characterized by fibrous plaques in the soft tissue of the penis of adult males. These plaques may limit the elasticity of the penis and cause pain upon erection. (For more information on this disorder, choose "Peyronie" as your search term in the Rare Disease Database). Related Disorders Knuckle Pads are nodules about the size of a pea on the surface of the joints in the fingers (interphalangeal) consisting of new growths of fibrous tissue with thickening of the skin. They are probably of genetic origin. Therapies: Standard Treatment of Dupuytren's Contracture consists of corticosteroid injections into the affected tendon sheaths, analgesics for pain, and physical therapy. Surgery may be required according to the extent of the deformities. Recurrence is possible even after surgery. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through February 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dupuytren's Contracture, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse (NIAMS) Box AMS Bethesda, MD 20892 (301) 495-4484 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 209, 579. CYTOGENETIC STUDIES IN DUPUYTREN CONTRACTURE. D.H. Wurster-Hill, et. al.; Am. J. Hum. Genet. (Sep, 1988, issue 43(3)). Pp. 285-92. DUPUYTREN'S CONTRACTURE, ALCOHOL CONSUMPTION, AND CHRONIC LIVER DISEASE. P. ATTALI, et. al.; Arch. Intern. Med. (Jun., 1987, issue 147(6)). Pp. 1065-7. SALVAGE OF SEVERE RECURRENT DUPUYTREN'S CONTRACTURE OF THE RING AND SMALL FINGERS. H.K. Watson, et. al.; J. Hand Surg. (Mar., 1987, issue 12(2)) Pp. 287-9. DUPUYTREN'S DISEASE IN BLACKS. M.V. Makhlouf, et. al.; Ann. Plast. Surg. (Oct., 1987, issue 19(4)). Pp. 334-6. Dupuytren's Contracture pagetitle 667: Dupuytren's Contracture 03645.TXT *Copyright (C) 1986, 1987, 1988, 1990, 1991, 1993 National Organization for Rare Disorders, Inc. 59: Cystinosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cystinosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Cystine Storage Disease Fanconi II Lignac-Fanconi Syndrome DISORDER SUBDIVISIONS: INFANTILE CYSTINOSIS: Nephropathic Cystinosis Infantile Fanconi Syndrome with Cystinosis Dwarfism with Rickets de Toni-Fanconi Syndrome Abderhalden-Kaufmann-Lignac Syndrome Lignac-Debre-Fanconi Syndrome Nephrotic-Glycosuric-Dwarfism-Rickets-Hypophosphatemic Syndrome, and Aminoaciduria-Osteomalacia-Hyperphosphaturia Syndrome ADOLESCENT CYSTINOSIS (Intermediate Cystinosis and Juvenile Cystinosis) Adult Cystinosis (Benign Cystinosis) Information on the following diseases can be found in the Related Disorders section of this report: Fanconi Syndrome (Renal) General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cystinosis is an inherited disorder of the transport of cystine out of parts of cells called lysosomes. Lysosomes are particles bound in membranes within cells. Cystine is an amino acid found in many proteins in the body. This disorder is characterized by the accumulation of cystine in tissues throughout the body, which can cause certain organs to malfunction. Three forms of Cystinosis are recognized. Infantile Nephropathic Cystinosis is the most severe form of the disease. Symptoms can appear as early as 6 to 12 months of age and if left untreated, may lead to kidney failure by 10 years of age. In benign (or adult) Cystinosis, crystalline cystine accumulates primarily in the cornea of the eyes. In people with the intermediate form of Cystinosis (also called juvenile or adolescent Cystinosis), kidney and eye symptoms are apparent in the teens or twenties. One of the major complications of Cystinosis is the renal fanconi syndrome. (See the related disorders section of this report for information about Renal Fanconi Syndrome.) Symptoms People with Cystinosis accumulate excessive amounts of cystine in the lysosomes of all tissues. The early symptoms of this disorder typically involve the kidneys and eyes. Individuals with Cystinosis have six-sided (hexagonal) or rectangular cystine crystals present in their bone marrow samples (aspirates), white blood cells (leukocytes), and/or the membranes that line the rectum (rectal mucosa). These crystals are also found in the corneas and membranes that line the eyes (conjunctiva). People who have inherited only one gene of a pair that causes Cystinosis (heterozygotes) have slightly elevated levels of intracellular cystine, but no symptoms. People with two genes that cause Cystinosis will have symptoms. Cystine accumulation in the kidneys impairs the ability of the kidneys to save mineral salts, causing abnormally low levels of sodium, potassium and phosphate in the blood. It also causes excessive urination (polyuria) and excessive thirst (polydipsia). These conditions together comprise the Renal Fanconi Syndrome. The accumulation of cystine crystals in the cornea and conjunctiva of the eyes may cause an increased sensitivity to light (photophobia), headaches, and itching and/or burning of the eyes. A physician is able to see crystals in the cornea of the eyes through a slit-lamp examination. The symptoms of Infantile Nephropathic Cystinosis typically appear before the age of 1 year. Infants with this disorder usually have a patchy loss of color (depigmentation) in the retina of the eyes and an abnormal sensitivity to light (photophobia). Hypophosphatemic Vitamin D-Resistant rickets (abnormal bone formation) may occur, as well as poor growth; the child fails to thrive and is pale and thin. The bones may be soft, and result in deformities that appear as the child grows older. Untreated Cystinosis leads to kidney (glomerular) failure by 10 years of age. (For more information on Vitamin D-Resistant Rickets, choose "Rickets" as your search term in the Rare Disease Database.) The symptoms of kidney dysfunction associated with Intermediate or Juvenile Cystinosis resemble those of the infantile form of the disease, but are generally milder. Abnormal bone formation (Rickets) sometimes occurs. The adult form of Cystinosis is typically benign. This form of the disease is primarily characterized by crystals in the corneas of the eyes. Ocular itching and burning may also occur, but kidney function remains intact. Causes Cystinosis is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Cystinosis is a rare disorder that affects males and females in equal numbers. Approximately 200 cases have been identified in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Cystinosis. Comparisons may be useful for a differential diagnosis: The renal fanconi syndrome is a rare disorder characterized by abnormal kidney function (proximal tubular), particularly involving excessive excretion of glucose, phosphates, amino acids, bicarbonate, water, potassium, calcium, sodium, and carnitine. Other symptoms of this disorder may include abnormally low levels of potassium in the blood (hypokalemia), excessive urination (polyuria), excessive thirst (polydipsia), and/or abnormally low levels of phosphate in the blood (hypophosphatemia). The renal fanconi syndrome may be, besides nephropathic Cystinosis, associated with other hereditary metabolic conditions including tyrosinemia, galactosemia, fructose intolerance, glycogen storage disease type I, Wilson Disease, familial Nephrosis, and Lowe Syndrome. The onset of the renal fanconi syndrome is also associated with the use of certain aminoglycosides and outdated tetracycline. It has been associated with poisoning by heavy metals or other chemicals. Therapies: Standard Benign forms of Cystinosis require little or no treatment. Nephropathic Cystinosis is treated symptomatically. Renal tubular dysfunction requires a high intake of fluids and electrolytes to prevent excessive loss of water from the body (dehydration). Sodium bicarbonate, sodium citrate, and potassium citrate may be administered to maintain the normal electrolyte balance. Phosphates and Vitamin D are required to correct the impaired resorption of phosphate into the kidneys (hypophosphatemia) and prevent rickets. Hemodialysis or kidney transplantation is required in end stage renal disease. Kidney transplantation is successful in this condition, however linear growth does not improve. Corneal transplantation has been successfully performed in Cystinosis patients using related donors. Cystinosis can be detected during pregnancy by a special obstetric procedure in which a small amount of amniotic fluid is removed for laboratory analysis (amniocentesis). In another prenatal procedure, chorionic villus sampling, a small amount of tissue from the placenta is removed and examined. Genetic counseling will be of benefit for patients and their families. Therapies: Investigational Cysteamine and phosphocysteamine, which are both cystine depleting agents, are being investigated for the treatment of Cystinosis. These two drugs lower cystine levels within cells. Cysteamine has a strong, unpleasant odor, a disadvantage that phosphocysteamine lacks. For more information patients may wish to have their physicians contact: Jess Thoene, M.D., University of University of Michigan, Ann Arbor, MI, 48109 This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cystinosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Cystinosis Foundation, Inc. 17 Lake Ave. Piedmont, CA 94611 (800) 392-8458 (415) 601-6940 National Kidney and Urologic Diseases Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 Research Trust for Metabolic Diseases in Children Golden Gate Lodge, Weston Road Crewe CW1 1XN, England Telephone: (0270) 250244 Jerry Schneider, M.D. University of California at San Diego 9500 Gilman Drive La Jolla, CA 92093 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 92-94. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 2619-2635. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 482-483. THE KIDNEY, 4th Ed.; Barry M. Brenner, M.D. and Floyd C. Rector, Jr., M.D., Editors; W. B. Saunders Company, 1991. Pp. 1618, 1758. NIH CONFERENCE. CYSTINOSIS: PROGRESS IN A PROTOTYPIC DISEASE: W.A. Gahl, J.G. Thoene et al.; Ann Intern Med (Oct 1988; 109(7)). Pp. 557-69. Cystinosis +pagetitle 59: Cystinosis 03646.TXT `+M+Copyright (C) 1986, 1987, 1988, 1990, 1991, 1993 National Organization for Rare Disorders, Inc. 61: Cystinuria _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cystinuria) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Cistinuria Cystine-Lysine-Arginine-Ornithinuria Cystinuria with Dibasic Aminoaciduria Disorder Subdivisions: Type I Cystinuria Type II Cystinuria Type III Cystinuria Hypercystinuria Information on the following diseases can be found in the Related Disorders section of this report: Dibasic Aminoaciduria Lysinuria Cystinosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cystinuria is an inherited metabolic disorder characterized by the abnormal movement (transport) in the intestines and kidneys, of certain organic chemical compounds (amino acids). These include cystine, lysine, arginine, and ornithine. Excessive amounts of undissolved cystine in the urine (cystinuria) cause the formation of stones (calculi) in the kidney, bladder, and/or ureter. Four subtypes of Cystinuria are recognized. In Type I Cystinuria, there is a defect in the active transport of cystine and the amino acids (dibasic) lysine, arginine, and ornithine in the kidneys and small intestine. People who are carriers of the gene for this type of the disorder generally have no symptoms. In Type II Cystinuria, cystine and lysine transport is severely impaired in the kidneys and only somewhat impaired in the intestines. In Type III Cystinuria, kidney transport of cystine and lysine is defective; intestinal transport is normal. People who are carriers of the gene for this variety of the disease typically have slightly elevated levels of cystine and lysine in the urine. In Hypercystinuria, there is generally a moderate elevation of cystine in the urine; intestinal absorption of cystine and the dibasic amino acids is normal. Symptoms People with Cystinuria excrete abnormally high levels of cystine in the urine. The level of cystine is so high that it remains undissolved in the urine (insoluble). The amino acids lysine, arginine, and ornithine are also excreted in massive amounts by people with this disorder. However, these amino acids dissolve more readily in the urine (more soluble) and are not associated with any particular symptoms. The initial symptom of Cystinuria is usually sharp pain in the lower back (renal colic). Other symptoms may include blood in the urine (hematuria), obstruction of the urinary track (ureters), and/or infections of the urinary tract. Frequent recurrences ultimately may lead to kidney damage. People with Cystinuria typically produce stones (cystine calculi) that are generally small, with a jagged crystalline surface. These stones may be accompanied by urinary "gravel," which consists of yellowish-brown hexagonal crystals. All patients with urinary stones should be screened for Cystinuria. Causes Cystinuria is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. The symptoms of Cystinuria develop due to the abnormal transport of cystine and the dibasic amino acids. Affected Population Cystinuria is an inherited metabolic disorder that affects males and females in equal numbers. Symptoms of this disorder typically begin between 10 and 30 years of age, although elevated cystine excretion may be found in infancy. The disorder occurs in approximately 1 in 7,000 to 1 in 10,000 people in the United States. The prevalence of Cystinuria varies in different countries. Related Disorders Symptoms of the following disorders can be similar to those of Cystinuria. Comparisons may be useful for a differential diagnosis: In Dibasic Aminoaciduria, the transport of lysine, arginine, and ornithine is impaired, resulting in increased urinary levels of these amino acids. In Lysinuria, lysine transport alone is defective, with abnormally excessive amounts of lysine in the urine. Carriers of these diseases tend to have increased levels of the relevant amino acids. Cystinosis is a rare inherited disorder of cystine transport characterized by the accumulation of cystine within the cells of the body, especially in the kidneys and eyes. Symptoms of this disorder include the presence of cystine crystals in the urine, the excretion of abnormally large volumes of urine (polyuria), abnormally low levels of circulating potassium (hypokalemia), and/or renal tubular failure. The accumulation of cystine in the eyes may result in an increased sensitivity to light (photophobia), headache, and/or itching and burning of the eyes. Symptoms usually begin during infancy. (For more information on this disorder, choose "Cystinosis" as your search term in the Rare Disease Database.) Therapies: Standard The primary objective of treatment for Cystinuria is to reduce the cystine concentration in the urine. Consumption of large amounts of fluid both day and night maintains a high volume of urine and reduces cystine concentration in the urine. Making the urine more alkaline (alkalization) helps cystine to dissolve more readily in the urine and therefore may also prevent the formation of stones. Drugs that may be prescribed to make the urine more alkaline include sodium bicarbonate, citrate, and acetazolamide. Another approach to the treatment of Cystinuria is administration of d-penicillamine, although there are some risks of side effects with this drug. D-penicillamine promotes the formation of cystine in a different chemical form (mixed disulfide), which is more soluble in the urine and is excreted. The orphan drug alpha-mercaptopropionyl glycine, also known as tiopronin (Thiola) has been approved as a treatment for Cystinuria. This drug is manufactured by Mission Pharmacal of San Antonio, Texas. Thiola has been shown to lower the level of cystine in the urine of patients with Cystinuria. Kidney and/or bladder surgery sometimes becomes necessary, but stones (calculi) commonly recur. Small stones may be removed by a special procedure; the surgeon views the stones through an illuminated optic instrument and then removes them with special instruments (endoscopic basket extraction). Laser techniques and ultrasound have also been used to dissolve stones in the bladder and/or kidneys that are caused by Cystinuria. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational The drug succimer (meso-2-3-dimercaptosuccinic acid) is being tested as a treatment for Cystinuria. This drug may be useful in preventing the formation of cystine stones. More study needs to be done to determine the long-term effectiveness and safety of the drug. The McNeil Consumer Products Co., Camp Hill Rd., Ft. Washington, PA, 19034, has received orphan drug designation for the drug 2,3-Dimercaptosuccinic Acid (CHEMET). It is being tested in some patients with Cystinuria. It is hoped that this drug may prevent damage to the kidney in those patients with Cystinuria who are prone to recurring stones. A solution of tromethamine-E solution or an acetylcysteine-bicarbo has also been used experimentally to dissolve cystine stones. Further studies are required to determine the long term safety and effectiveness of these medications in the treatment of Cystinuria. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cystinuria, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Kidney Foundation 2 Park Ave. New York, NY 10016 (212) 889-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (in Maryland) Researcher: Charles Y.C. Pak, M.D. The University of Texas Health Science Center at Dallas 5323 Harry Hines Blvd. Dallas, TX 75235 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 800-336-GENE 301-652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. P. 1322. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 2488-2493. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 603-608. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 2084. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 483-484. THE KIDNEY, 4th Ed.; Barry M. Brenner, M.D. and Floyd C. Rector, Jr., M.D., Editors; W. B. Saunders Company, 1991. Pp. 1602-1604. CYSTINURIA. D.S. Milliner; Endocrinol Metab Clin North Am (Dec 1990: 19(4)). Pp. 889-907. CYSTINURIA. R.D. Feld; Crit Rev Lab Sci (1988: 26(3)). Pp. 243-61. PERCUTANEOUS CATHETER DISSOLUTION OF CYSTINE CALCULI: S.P. Dretler, et al.; Journal Urology (February 1984: issue 131, 2). Pp. 216-219. CystinuriaY, \,pagetitle 61: Cystinuria 03647.TXT @(*(Copyright (C) 1986, 1987, 1988, 1989, 1990, 1991 National Organization for Rare Disorders, Inc. 189: Cytomegalovirus Infection _________________________ ** IMPORTANT ** It is possible the main title of the article (Cytomegalovirus Infection) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms CMV Cytomegalic Inclusion Disease Salivary Gland Disease Giant Cell Inclusion Disease, also known as CID Human Cytomegalovirus Infection DISORDER SUBDIVISIONS Congenital Cytomegalovirus Infection Acquired Cytomegalovirus Infection Postperfusion Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cytomegalovirus Infection (CMV) is a virus infection occuring congenitally, postnatally or at any age. CMV ranges in severity from a silent infection without consequences, to a disease manifested by fever, hepatitis, and (in newborns) severe brain damage, and stillbirth or perinatal death. Symptoms Infections of Cytomegalovirus may be congenital (existing before or at birth) or acquired after birth. Symptoms of Congenital Infection are highly variable. The infection may be manifested only by cytomegaloviruria (virus in the urine) in an otherwise normal infant. At the other extreme, hemorrhaging, anemia, or extensive liver or CNS (Central Nervous System) damage may occur. Infants born with a severe form of the disease typically have a low birth weight and develop a fever, hepatitis with jaundice, and hemorrhagic manifestations such as purpura. Hepatosplenomegaly (enlargement of liver and spleen), thrombocytopenia (decrease in number of blood platelets), chorioretinitis (inflammation of the choroid and retina), microcephaly (abnormal smallness of the head), and periventricular cerebral calcification may be present. Psychomotor retardation (development of motor defects and psychic abnormalities), spastic diplegia (spastic paralysis on both sides of body), blindness, deafness, or seizures may develop. Even though the Cytomegalovirus Infection may not at times be apparent in some infants, it may later cause hearing defects in these children. Acquired Cytomegalovirus Infections, which occur immediately after birth or later in life, are often asymptomatic (there are no symptoms apparent). An acute illness with fever, termed Cytomegalovirus Mononucleosis or Cytomegalovirus Hepatitis, may result from contact through medical treatment or from spontaneous contact with Cytomegalovirus. According to a 1987 study, acquired Cytomegalovirus infection does not appear to be a contributing risk factor for sensorineural hearing loss, regardless of poor health or premature birth of affected infants. Postperfusion Syndrome develops two to four weeks after transfusion with fresh blood containing CMV and is characterized by fever lasting two to three weeks, hepatitis of variable degrees with or without jaundice, a characteristic atypical lymphocytosis (excess of lymph cells in the blood or in any effusion) resembling that of infectious mononucleosis, and occasionally a rash. CMV infection in patients with malignancy or receiving immunosuppressive therapy may cause pulmonary, gastrointestinal or renal (kidney) involvement. This complication is of major importance in some reported transplantation series in which immunosuppressive therapy is utilized. Causes Cytomegalovirus Infection is caused by the human Cytomegaloviruses ("salivary gland viruses"), a subgroup of agents closely related to the herpes group of viruses, which can remain latent in man. Affected Population Cytomegalovirus infection has increased in the United States in recent years probably because of the increased use of day-care facilities. Recent studies show that sixty percent of children in these facilities have been infected, compared to less than twenty percent of children cared for at home. Although these infections have no long-term serious health consequences among children, they can be transmitted to women of childbearing age. If a woman is infected during pregnancy, fetal infections known as cytomegalic inclusion disease (CID) can occur. According to the American Academy of Pediatrics, eighty-seven percent of children with CID develop complications. Thirty-one percent have serious sensorineural hearing loss, and sixty-two percent have some degree of mental retardation. Perinatal CMV infection is common. It occurs in eight to thirteen percent of healthy newborns in the United States, and fourteen to eighteen percent of sick or premature infants. Healthy full-term infants rarely have symptoms and are at lesser risk of long-term effects. In contrast, symptoms are common in premature and sick full-term infants and may include pneumonia, hepatitis, hemolytic anemia, thrombocytopenia, and fever. Related Disorders The CMV virus is closely related to the herpes group of viruses. (For more information on Cytomegalovirus Infection and other herpes viruses, see related articles in the Prevalent Health Conditions/Concerns area of NORD Services and the AIDS Update. Therapies: Standard Treatment of Cytomegalovirus Infection may include the orphan drug Cytovene which has received FDA approval as standard treatment for CMV. It is manufactured by Syntex (USA), Inc., 3401 Hillview Ave., Palo Alto, CA 94304. In April 1990 the FDA approved Cytomegalovirus Immune Globulin Intravenous (CMV-IGIV). This drug is given to organ transplant patients who show no signs of CMV infection before surgery, but who will receive kidneys from CMV positive donors. CMV-IGIV is manufactured by the Massachusetts Public Health Biologic laboratories. Given to patients just before and for some time after the transplant, it can reduce the severity of their CMV infection by infusing antibodies to fight the CMV virus. Therapies: Investigational The experimental drug, ganciclovir, is being tested on people with CMV retinitis to determine if it can prevent blindness. Physicians with CMV retinitis patients who may be interested in participating in the study can contact: NIH/National Institute of Allergy and Infectious Diseases (NIAID) Ganciclovir Study Center 9000 Rockville Pike Bethesda, MD 20892 (301) 497-9888 Trials of drugs which interfere with viral DNA synthesis (floxuridine, cytarabine, and others) have not yielded clear-cut results in the treatment of Cytomegalovirus Infection. The investigational orphan drug BW B759U is being tested in clinical trials for treatment of severe human Cytomegalovirus Infections in specific immunosuppressed patient populations (e.g., bone marrow transplant recipients and AIDS patients.) For more information, physicians can contact: Burroughs-Wellcome Co. 3030 Cornwallis Rd. Research Triangle Park, NC 27709 Clinical trials of the orphan drug ganciclovir (DHPG) are underway to determine its use as a treatment for Cytomegalovirus (CMV) infections of a serious life- or sight-threatening nature in patients with reduced immunity. AIDS patients with cytomegalovirus retinitis can be included in this group. For more information, physicians can contact: Syntex (USA), Inc. 3401 Hillview Ave. Palo Alto, CA 94304 Additionally, the Food and Drug Administration (FDA) has given a research grant award to Stanley Plotkin, M.D., Wistar Institute, Philadelphia, PA, to study a live attenuated cytomegalovirus vaccine. The orphan drug designation has been given to Cytomegalovirus Immune Globulin (Human) for use in prevention or attenuation of primary cytomegalovirus disease in immunosuppressed recipients of organ transplants. For more information, physicians can contact: Massachusetts Public Health Biologic Laboratories 305 South Street Jamaica Plain, MA 02130 SOZ MSL-109 is being tested by the FDA as a preventative of CMV in solid organ transplant patients. The sponsor is Sandoz Pharmaceuticals Corp., 59 Route 120, East Hanover, NJ, 07936. Clinical trials are underway to study the use of Ganciclovir for the treatment of symptomatic Cytomegalovirus Infections. Interested persons may wish to contact: Dr. William R. Gruber Vanderbilt University Pediatric Infectious Diseases Rm. D-7226, MCN Nashville, TN 37232 (615) 322-2250 to see if further patients are needed for this research. For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cytomegalovirus Infections, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 CMV Clinic Children's Hospital of St. Paul 345 North Smith Ave. St. Paul, MN 55102 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 163, 182. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1784-6. Cytomegalovirus Infection ectaM) P)pagetitle 189: Cytomegalovirus Infection 03648.TXT Copyright (C) 1986, 1989, 1991 National Organization for Rare Disorders, Inc. 275: Dandy-Walker Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Dandy-Walker Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dandy-Walker Cysts Dandy-Walker Deformity Internal Hydrocephalus Noncommunicating Hydrocephalus Obstructive Hydrocephalus Disorder Subdivision Dandy-Walker Malformation Information on the following disease can be found in the Related Disorders section of this report: Arnold-Chiari Syndrome Hydrocephalus General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dandy-Walker Syndrome is a hereditary disorder characterized by developmental malformations caused by cysts on the fourth ventricle in the brain. Cerebrospinal fluid accumulates in this ventricle causing the head to become enlarged (hydrocephalus) due to excessive pressure. As a result, the brain cannot function properly. Symptoms In children born with Dandy-Walker Syndrome, the head is enlarged and the fourth ventricle in the brain contains an abnormally large amount of fluid. Headache, vomiting, double vision (diplopia) and blurred vision occur. Hyperirritability, weakness and congested veins in the scalp are other symptoms of this syndrome. The anterior soft spot in the skull tends to bulge. The cranial seams (sutures) are separated and the scalp tends to be shiny and thin. The eyes are displaced downward. The reflexes are often exaggerated and the foot makes abnormal rapid extension and relaxation movements induced by suddenly pushing up the foot (ankle clonus). Heart beat and breathing tend to be slow. Disorder Subdivision: Dandy-Walker Malformation is similar to Dandy-Walker Syndrome. However, it occurs as a central nervous system disorder that develops alone or in combination with other abnormalities. It may be genetic, congenital (present at birth), or develop for unknown reasons. Hydrocephalus develops in 85% of the patients. Causes Dandy-Walker Syndrome is an autosomal recessive hereditary disorder. A congenital obstruction in the windows from the fourth ventricle in the brain prevents the entrance of cerebrospinal fluid into the subarachnoid space above the fourth ventricle in the brain. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. Affected Population Dandy-Walker Syndrome is very rare. According to one report of ten children with the syndrome treated surgically in Philadelphia, seven were male and three were female. Related Disorders Arnold-Chiari syndrome is a defect in the formation of several brainstem areas. The cerebellar tonsils are elongated and protrude through the hole in the skull at the entrance of the spinal cord, the rounded elevations of the middle brain tend to beak, and the upper neck (cervical) portion of the spinal cord is thick. Excessive fluid in the brain (hydrocephalus) may result from blockage of the fourth ventricle as in Dandy-Walker Syndrome. (For more information on this disorder, choose "Arnold-Chiari" as your search term in the Rare Disease Database.) Hydrocephalus is a symptom that can be caused by a variety of neurological disorders. Treatment of this symptom is surgical implantation of a shunt which drains excess fluid from the brain. (For more information on this disorder, choose "hydrocephalus" as your search term in the Rare Disease Database.) Therapies: Standard Treatment for Dandy-Walker Syndrome consists of surgically performing combined shunt procedures to the posterior ridge cyst and the lateral ventricles, draining fluid from the inside of brain. In many cases this procedure prolongs the life of children with Dandy-Walker Syndrome. Special education services are useful to children who have mental retardation. Therapies: Investigational This disease entry is based upon medical information available through August 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dandy-Walker Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Hydrocephalus Parent Support Group 225 Dickinson St., H-893 San Diego, CA 92103 (619) 695-3139, or (619) 726-0507 National Hydrocephalus Foundation 400 N. Michigan Ave., Suite 1102 Chicago, IL 60611-4102 Hydrocephalus Association 870 Market St., Suite 955 San Francisco, CA 94102 (415) 776-4713 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References Problems of Diagnosis and Treatment in the Dandy-Walker Syndrome: HE James et al.; in: Child's Brain 5: 24-30 (1979). Dandy-Walker Syndrome m) () pagetitle 275: Dandy-Walker Syndrome 03649.TXT Copyright (C) 1987, 1990, 1991 National Organization for Rare Disorders, Inc. 485: Darier Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Darier Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Dyskeratosis Follicularis Vegetans Keratosis Follicularis Psorospermosis Follicularis White-Darier Disease Information on the following disorders can be found in the Related Disorders section of this report: Acrokeratosis Verruciformis of Hopf Hyperkeratosis Follicularis in Cutem Penetrans (Kyrle Disease) Keratosis Pilaris (Follicular Ichthyosis) Psoriasis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Darier Disease is a gradually progressive, hereditary skin disorder. It is characterized by elevated spots (papules) on the scalp, forehead, face, neck, area behind the ears, and middle of the back. Symptoms Darier Disease usually begins without apparent symptoms. Gradually, burning and itching skin occurs. Firm spots (papules) become larger and darker, and may be covered with gray/brown scales or crusts. These spots may increase in size and grow together into patches. The disorder is gradually progressive, and tends to become more severe with exposure to sunshine and/or emotional stress. Symptoms may improve during the winter. Causes Darier Disease is a dominant hereditary disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Darier Disease usually begins during childhood, but it may appear as late as the 7th decade of life. Males are affected in greater numbers than females. In Denmark the incidence of this disorder is estimated at 1 in 10,000 persons. In the United States, Darier Disease affects about 1 in 50,000 persons or 20 per million. There are a total of 5,000 affected by the disease and seventy-five births of babies with Darier Disease occur annually. Related Disorders Acrokeratosis Verruciformis of Hopf is a dominant hereditary skin disorder which tends to occur in members of families affected by dermatological conditions characterized by hardened skin. Symptoms of the disorder include flat-topped or slightly convex, smooth, firm, elevated spots (papules) usually distributed symmetrically on the back of both hands, feet, wrists and/or ankles. Spots may be few or numerous; they may range in size from 1/16 to 1/4 inch. Spots are mostly flesh-colored, some are light brown. The palms of the hands and the soles of the feet may be hardened (hyperkeratotic). Nails are opaque and brittle. Hyperkeratosis Follicularis in Cutem Penetrans (Kyrle Disease) is a rare skin disease occurring mostly in female adults. It is characterized by painful, scattered eruptions with horn-like cone-shaped plugs. Usually only the extremities, buttocks and cheeks are involved. Keratosis Pilaris (Follicular Ichthyosis) is a common skin disorder occurring during adolescence. It is characterized by mild redness of the skin with elevated hardened spots (keratotic papules) in irregular distribution, and the appearance of gooseflesh, especially on thighs and arms. (To locate information about other types of Ichthyosis, choose "Ichthyosis" as your search term in the Rare Disease Database.) Psoriasis is a common chronic and recurrent skin disease characterized by dry, well circumscribed, silvery, scaling elevated spots (papules) and plaques of various sizes. Psoriasis varies in severity from mild to severe. (For more information on this disorder, choose "Psoriasis" as your search term in the Rare Disease Database.) Therapies: Standard Darier Disease can be diagnosed from examination of nail tissue. The disorder is usually treated with the aromatic retinoid drug etretinate. Surgical removal of foreign and dead tissue from the lesions (debridement) may also be helpful. Therapies: Investigational This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Darier Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.) P.O. Box 410453 San Francisco, CA 94103 (415) 591-1653 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION: THE ICHTHYOSES: M.L. Williams, et al.; Dermatologic Clinics (January 1987: issue 5(1)). Pp. 173-175. ETRETINATE: EFFECT OF MILK INTAKE ON ABSORPTION: J.J. DiGiovanna, et al.; Journal Invest Dermatol (June 1984: issue 82(6)). Pp. 636-640. THE SURGICAL TREATMENT OF HYPERTROPHIC DARIER'S DISEASE: R.G. Wheeland, et al.; Journal Dermatol Surg Oncol (April 1985: issue 11(4)). Pp. 420-423. Darier Disease pagetitle 485: Darier Disease 03650.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 364: Dejerine-Sottas Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Dejerine-Sottas Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Hypertrophic Interstitial Neuritis Hypertrophic Interstitial Radiculoneuropathy Onion-bulb Neuropathy Hereditary Motor Sensory Neuropathy Type III, also known as HSMN Type III Hypertrophic Interstitial Neuropathy Information on the following diseases can be found in the Related Disorders section of this report: Charcot-Marie-Tooth Disease, also known as Peroneal Muscular Atrophy Hereditary Sensory Radicular Neuropathy General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dejerine-Sottas Disease is a hereditary neurological disorder which progressively affects mobility. Peripheral nerves become enlarged or thickened causing an irregular progression of muscle weakness. Pain, weakness, numbness, and a tingling, prickling or burning sensation can occur in the legs of patients with this disorder. Many people with Dejerine-Sottas Disease can remain active and usually have a normal life span. Symptoms Dejerine-Sottas Disease tends to begin suddenly, usually between ten and thirty years of age. Tingling, prickling or burning sensations are usually the initial symptoms. Weakness is commonly first noticed in the muscles of the back of the leg. This then spreads to the front leg muscles. Pain, loss of heat sensitivity, absence of reflexes and atrophy of leg muscles are symptoms of Dejerine-Sottas Disease. Patients may eventually develop difficulty in walking. The hand and forearm muscles may become weak in later stages. Mild vision difficulties may also occur. Causes Dejerine-Sottas Disease is inherited as a dominant trait. A recurrent loss of myelin (the protective sheath surrounding nerves) causes this disorder. Scientists do not yet know why the myelin disappears. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Dejerine-Sottas Disease usually begins between ten and thirty years of age. This disorder is thought to affect males and females in equal numbers. Related Disorders Charcot-Marie-Tooth Disease, or Peroneal Muscular Atrophy involves a chronic degeneration (breakdown) of the nerves. Nerves that supply the feet and legs and sometimes the hands are affected. (For more information, choose "CMT" as your search term in the Rare Disease Database). Hereditary Sensory Radicular Neuropathy is a dominant hereditary disorder characterized initially by pain and loss of thermal sensation in the foot and lower leg. Later, attacks of sharp pain throughout the body may occur with muscle weakness and ulcers on toes. Therapies: Standard Treatment of Dejerine-Sottas Disease is symptomatic and supportive. Orthopedic surgery or foot bracing can often be of value to correct or stabilize joints involved with walking. Organizations offering assistance to individuals with vision or mobility deficits and their families can be helpful. Genetic counseling may also be of benefit to families and people with Dejerine-Sottas Disease. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dejerine-Sottas Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Muscular Dystrophy Association, National Office 3300 E. Sunrise Dr. Tucson, AZ 85718 (602) 529-2000 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References ABNORMAL AUDITORY EVOKED POTENTIALS IN DEJERINE-SOTTAS DISEASE. REPORT OF TWO CASES WITH CENTRAL ACOUSTIC AND VESTIBULAR IMPAIRMENT: F. Baiocco, et. al.; J Neurol (1984, issue 231(1)). Pp. 46-49. LIPID ABNORMALITIES IN HEREDITARY NEUROPATHY. PART 4. ENDONEURIAL AND LIVER LIPIDS OF HMSN-III (DEJERINE-SOTTAS DISEASE): J.K. Yao, et. al.; J Neurol Sci (Nov.-Dec. 1981, issue 52(2-3)). Pp. 179-190. THE IMPORTANCE OF QUANTITATIVE ELECTRON MICROSCOPY IN STUDYING HYPERTROPHIC NEUROPATHIES. A COMPARISON BETWEEN A CASE OF DEJERINE SOTTAS DISEASE (HMSN III) AND A CASE OF THE HYPERTROPHIC FORM OF CHARCOT-MARIE-TOOTH DISEASE (HMSN I): G. Tredici, et. al.; Int J Tissue React (1984, issue 6(3)). Pp. 267-274. Dejerine-Sottas Disease pagetitle 364: Dejerine-Sottas Disease 03651.TXT %{%Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 514: Dengue Fever _________________________ ** IMPORTANT ** It is possible the main title of the article (Dengue Fever) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Breakbone Fever Dandy Fever Duengero Seven Day Fever Includes: Dengue Hemorrhagic Fever Dengue Shock Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Colorado Tick Fever Typhus (Typhoid Fever) Yellow Fever Other Hemorrhagic Fevers General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dengue Fever is an acute viral infection characterized by fever. It is caused by a bite from mosquitoes carrying dengue virus. The primary form of Dengue Fever is characterized by a skin rash and a high fever with severe pain in the head and muscles. The secondary forms of this disorder are called Dengue Hemorrhagic Fever and Dengue Shock Syndrome. These usually are caused by a secondary infection with a different type of Dengue virus (Type 2), but may also be caused by the same virus that causes Dengue Fever. Several days after onset fever, bleeding under the skin and in the intestines occurs. A marked fall in blood pressure (shock) occurs in very severe cases. Symptoms Dengue Fever is a disorder transmitted by mosquitoes carrying dengue virus. The disorder is characterized by a sudden onset of symptoms. There is an incubation period of 5 to 8 days after the mosquito bite occurs. The patient has chills or chilly sensations, with a fever. Pain behind the eyeballs (postorbital) occurs on moving the head. The head, lower back, legs and joints ache. The patient feels very weak. The temperature rises rapidly, sometimes to as high as 40C or 104F, accompanied by a relatively slow heart beat (bradycardia) and abnormally low blood pressure. The lymph glands in the neck, shoulder, and groin are usually enlarged. Two or three days after the first fever, a rash of flat or elevated (maculopapular) spots appears, particularly on the face. A second temperature rise follows. The presence of Dengue virus in the blood (viremia) can confirm the diagnosis. The patient subsequently develops immunity against this type of Dengue virus. However, reinfection with a different type of this virus is possible. Secondary forms of Dengue Fever are Dengue Hemorrhagic Fever, and Dengue Shock Syndrome. These forms of the disorder primarily affect children between 3 and 6 years of age who have been infected a second time with dengue virus, and infants 7 to 8 months of age. These forms of the disorder are characterized by sudden fever, headache, nausea, vomiting, and abdominal pain. Coughing, throat infection and difficulty in breathing also occur. Shock may occur 2 to 6 days after the beginning of the fever, with sudden collapse, cool clammy extremities (the trunk is often warm), a weak pulse, and bluish discoloration of the skin around the mouth (cyanosis). In serious cases, a tendency to bleed excessively occurs, either as purpura or in pinpoint spots (petecchiae). The bleeding may appear in many parts of the body. Blood vessels become dilated and congested, and swelling (edema) may also occur. Gastrointestinal bleeding may lead to vomiting of blood (hematemesis) and passing of dark stools stained with blood pigment (melena). Causes Dengue Fever is transmitted by a mosquito infected with a Dengue virus. These viruses belong to a group of 4 B arboviruses (flaviviruses). Affected Population Dengue Fever occurs mainly in subtropical or tropical climates including southern Asia, South America (particularly Brazil), and the Caribbean including Puerto Rico and the U.S. Virgin Islands. The virus has also been imported into the U.S. by tourists from these areas. Dengue Hemorrhagic Fever, and Dengue Shock Syndrome usually occur in children between 3 and 6 years of age. Infants between 7 and 8 months of age may also develop these conditions even after receiving antibodies for Dengue Fever prenatally from a previously infected mother. The afflicted infants do not have antibodies to the Dengue Type 2 virus. Related Disorders The Dengue virus is a B Arbovirus which has 4 distinct serogroups. Colorado Tick Fever (Mountain Fever; Mountain Tick Fever) is a virus infection transmitted by ticks which is prevalent in the western United States. Fever, headaches, muscle aches, and generalized discomfort characterize the illness, which resolves spontaneously. (For more information on this disorder, choose "Colorado Tick Fever" as your search term in the Rare Disease Database.) Epidemic Typhus (European Typhus; Classic Typhus; Louse-Born Typhus; Jail Fever) is a severe infectious disorder which begins suddenly and is characterized by prolonged high fever, persistent headache, and a rash of elevated spots on the skin. Epidemic Typhus is caused by Rickettsia prowazekii, an organism that resembles viruses and bacteria. This disorder can be transmitted by lice. Yellow Fever is an arbovirus infection characterized by sudden onset and variable severity of symptoms. The disorder is characterized by a fever of 102 degrees to 104 F (39 degrees to 40 C), and an abnormally slow heart beat. In a few severe cases, excessive amounts of protein are present in the urine. In these few cases a yellow skin color (jaundice), bleeding and coughing up blood also tend to occur. The virus which causes Yellow Fever is transmitted by the bite of a mosquito. (For more information on this disorder, choose "Yellow Fever" as your search term in the Rare Disease Database.) Other Hemorrhagic Fevers which are characterized by internal bleeding are caused by a variety of viruses. Some of these fevers that occur in Africa and South America are: Lassa Fever, Machupo Fever (Bolivian Hemorrhagic Fever), Junin Fever (Argentinian Hemorrhagic Fever), Lymphocytic Choriomeningitis, Marburg Virus (Hemorrhagic Fever), and, Ebola Virus (Hemorrhagic Fever). Blood tests may be used to identify the virus. Therapies: Standard Dengue Fever is diagnosed by testing a blood sample for presence of the Dengue virus or its antibodies. However, a different type of the Dengue virus might cause a second infection. Aspirin and codeine may be prescribed for severe headache and muscle pain. Complete bedrest is important. Patients should take measures to avoid additional mosquito bites in order to prevent reinfection. Fluids should be given to compensate for dehydration. Treatment for Dengue Hemorrhagic Fever depends on the patient's degree of dehydration. Patients should be closely monitored to prevent shock. When skin appears bluish in color, oxygen should be given. Collapse of blood vessels and loss of fluid from the circulation (hemoconcentration) require immediate fluid replacement, preferably with a solution like Ringer's lactate. Plasma or human serum protein (albumin) should also be given if there is no response in the first hour. Fresh blood or blood platelet transfusions may control bleeding. Agitated patients may be given paraldehyde, chloral hydrate, or diazepam. Therapies: Investigational Scientists have studied the effect of human interferon on Hemorrhagic Dengue Fever. More research is needed before this drug will be available for more general use in treating Dengue Fever. Additionally, scientists are trying to develop a vaccine which may someday prevent this infectious disorder. This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dengue Fever, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) Office of Public Inquiries 1600 Clifton Road NE Atlanta, GA 30333 (404) 329-5354 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References DENGUE FEVER IN THE UNITED STATES. A REPORT OF A CLUSTER OF IMPORTED CASES AND REVIEW OF THE CLINICAL, EPIDEMIOLOGIC, AND PUBLIC HEALTH ASPECTS OF THE DISEASE: M.D. Malison, et al.; JAMA (January 28, 1983: issue 249(4)). Pp. 496-500. DENGUE VIRUS TYPE 2 VACCINE: REACTOGENICITY AND IMMUNOGENICITY IN SOLDIERS: W.H. Bancroft, et al.; Journal Infect Dis (June 1984: issue 149(6)). Pp. 1005-1010. DENGUE AND HEPATIC FAILURE: M.E. Alvarez, et al.; American Journal Med (November 1985: issue 79(5)). Pp. 670-674. EFFECT OF INTERFERONS ON DENGUE VIRUS MULTIPLICATION IN CULTURED MONOCYTES/MACROPHAGES: H. Hotta, et al.; Biken Journal (December 1984: issue 27(4)). Pp. 189-193. Dengue Fever{& ~&pagetitle 514: Dengue Fever 03652.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 505: Dentin Dysplasia, Coronal _________________________ ** IMPORTANT ** It is possible the main title of the article (Coronal Dentin Dysplasia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Anomalous Dysplasia of Dentin Coronal Dentin Dysplasia Coronal Dentine Dysplasia Dentin Dysplasia, Type II Dentine Dysplasia, Type II Pulp Stones Pulpal Dysplasia Information on the following disorders may be found in the Related Disorders section of this report: Dentin Dysplasia, Radicular Dentinogenesis Imperfecta (Opalescent Dentin) General Discussion ** IMPORTANT ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Coronal Dentin Dysplasia is a genetic disorder characterized by brownish-blue opalescent baby teeth and permanent teeth that appear normal. The hard calcified tissue beneath the enamel (dentin) is the main substance of the teeth. The baby teeth in children affected by this disorder contain obliterated pulp chambers and reduced root canals. Permanent teeth also have abnormalities. Symptoms Coronal Dentin Dysplasia is characterized by brownish-blue opalescent baby teeth. Later, permanent teeth appear normal. On X-rays, the baby teeth show obliterated pulp chambers and reduced root canals. The permanent teeth contain flame-shaped pulp chambers often with an extension reaching into the root, and numerous pulp stones. Root formation in the permanent teeth is usually normal. The baby teeth wear away (abrade) rapidly. Premature loss of teeth may occur slightly more often than normal. Causes Coronal Dentin Dysplasia is an autosomal dominant inherited disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Coronal Dentin Dysplasia is a rare disorder affecting males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Coronal Dentin Dysplasia. Comparisons may be useful for a differential diagnosis: Radicular Dentin Dysplasia is a genetic disorder characterized by atypical formation of the hard calcified tissue which forms the major part of the tooth (dentin). The teeth lack pulp chambers or have half-moon shaped pulp chambers in short or abnormal shaped roots. Tooth color is usually normal. (For more information on this disorder, choose "Radicular Dentin Dysplasia" as your search term in the Rare Disease Database.) Dentinogenesis Imperfecta (Opalescent Dentin) is inherited as an autosomal dominant hereditary disorder. This disorder is characterized by bluish-brown or brown opalescent baby and permanent teeth. The tooth enamel breaks and wears off easily. In adults, only roots may remain. X-rays usually show the absence of dental pulp chambers and root canals. (For more information on this disorder, choose "Dentinogenesis Imperfecta" as your search term in the Rare Disease Database.) Therapies: Standard Coronal Dentin Dysplasia may be treated by scraping (curettage) around the tips of the roots, and filling these root tips with a dental amalgam (retrograde amalgam seal), or by more conventional root canal therapy. However, preventive dental care provides the best available means of maintaining the teeth. Genetic counseling is recommended for families of children with Coronal Dentin Dysplasia. Therapies: Investigational This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Coronal Dentin Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasia P.O. Box 114 Mascoutah, IL 62258 (618) 566-2020 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This report is based on outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics. A SCANNING ELECTRON MICROSCOPIC STUDY OF DENTIN DYSPLASIA TYPE II IN PRIMARY DENTITION: J.R. Jasmin, et al.; Oral Surg (July 1984: issue 58(1)). Pp. 57-63. DENTINAL DYSPLASIA: A CLINICOPATHOLOGICAL STUDY OF EIGHT CASES AND REVIEW OF THE LITERATURE: N.E. Steidler, et al.; British Journal Maxillofac Surg (August 1984: issue 22(4)). Pp. 274-286. Dentin Dysplasia, Coronal pagetitle 505: Dentin Dysplasia, Coronal 505: Dentin Dysplasia, Coronal 03653.TXT pagetitle 521: Dentin Dysplasia, Radicular Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 521: Dentin Dysplasia, Radicular _________________________ ** IMPORTANT ** It is possible the main title of the article (Radicular Dentin Dysplasia) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Dentin Dysplasia, Type I Nonopalescent Opalescent Dentine Radicular Dentin Dysplasia Rootless Teeth Information on the following diseases can be found in the Related Disorders section of this report: Coronal Dentin Dysplasia (Dentin Dysplasia, Type II; Pulpal Dysplasia) Dentinogenesis Imperfecta General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Radicular Dentin Dysplasia is a genetic disorder characterized by atypical formation of the calcified tissue between the enamel pulp of the teeth (dentin). The teeth lack pulp chambers or have half-moon shaped pulp chambers in short or abnormal shaped roots. The color of the teeth is usually normal. Symptoms Radicular Dentin Dysplasia is characterized by teeth with a bluish-brown shine. However, in some cases the teeth may appear to have normal enamel. X-ray photos indicate the tooth pulp chambers in the roots are half-moon shaped or obliterated, and the roots are very short. Areas around these short roots sometimes appear dark (radiolucent) on X-rays. Both the baby teeth and the permanent teeth are affected. The teeth are often poorly aligned and can be chipped easily. Without treatment, persons with Radicular Dentin Dysplasia may lose their teeth by age 30-40. Causes Radicular Dentin Dysplasia is inherited as an autosomal dominant disorder, possibly caused by degenerated blood vessels in the dental papilla. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Radicular Dentin Dysplasia affects about 1 in 100,000 persons. Males and females are affected in equal numbers. Related Disorders Symptoms of the following disorders can be similar to Radicular Dentin Dysplasia. Comparisons may be useful for a differential diagnosis: Coronal Dentin Dysplasia (Dentin Dysplasia, Type II; Pulpal Dysplasia) is an autosomal dominant hereditary disorder. It is characterized by brownish-blue shiny baby teeth with reduced root canals and normal appearing permanent teeth. (For more information on this disorder, choose "Coronal Dentin Dysplasia" as your search term in the Rare Disease Database). Dentinogenesis Imperfecta is an autosomal dominant hereditary disorder. It is characterized by bluish-brown or brown opalescent baby and permanent teeth. The tooth enamel breaks and wears off easily. In affected adults, only roots may remain. X-rays usually show the absence of dental pulp chambers and root canals. (For more information on thia disorder, choose "Dentinogenesis Imperfecta" as your search term in the Rare Disease Database.) Therapies: Standard The affected teeth in persons with Radicular Dentin Dysplasia can be treated by a specialist who treats the roots and pulp of the teeth (endodontist). Filling the tips of the root canals can allow these abnormal teeth to remain in their natural position. Sometimes the affected teeth must be extracted and replaced with dentures. Genetic counseling is recommended for families of children with Radicular Dentin Dysplasia. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Radicular Dentin Dysplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This report is based on outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics. DENTIN DYSPLASIA TYPE I: A CLINICAL REPORT: J.A. Petrone, et al.; Journal Am Dent Assoc (December 1981: issue 103(6)). Pp. 891-893. DENTIN DYSPLASIA TYPE I: A SCANNING ELECTRON MICROSCOPIC ANALYSIS OF THE PRIMARY DENTITION: M. Melnick, et al.; Oral Surg (October 1980: issue 50(4)). Pp. 335-340. Dentin Dysplasia, Radicular 03654.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 551: Dentinogenesis Imperfecta, Type III _________________________ ** IMPORTANT ** It is possible the main title of this article (CHARGE Association) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Brandywine Type Dentinogenesis Imperfecta Dentinogenesis Imperfecta, Shields Type III Information on the following disorders may be found in the Related Disorders section of this report: Dentin Dysplasia, Coronal Dentin Dysplasia, Radicular Dentinogenesis Imperfecta, Type I (Hereditary Opalescent Dentin; Dentinogenesis Imperfecta, Type II; Capdepont Teeth; Hereditary Brown Teeth) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dentinogenesis Imperfecta, Type III is a genetic dental disorder characterized by rapid erosion of crowns of the baby and permanent teeth soon after they erupt. The inside of the teeth (dental pulp) which is filled with blood vessels and nerve endings is usually exposed. Other genetic traits may accompany these tooth abnormalities. Symptoms Dentinogenesis Imperfecta, Type III is characterized by rapid erosion of the crowns in baby and permanent teeth. Dental pulp inside several teeth may be exposed. This pulp may be opalescent, smooth, and amber colored. Pulp chambers and root canals may appear very large on X-ray photos of baby teeth. Permanent teeth may have a reduction or even complete loss of the pulp chambers and root canals. Carriers of the gene for this disorder may have teeth that appear normal. However, upon examination their teeth have only an extremely thin ivory layer and an enlarged pulp chamber (shell teeth). Pitting of the tooth enamel may occur in the permanent teeth of patients. Causes Dentinogenesis Imperfecta, Type III is a disorder inherited through an autosomal dominant gene; this gene is thought to be Gc on the chromosome 4q. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Patients with Dentinogenesis Imperfecta, Type III are affected in a ratio of approximately 55 males to 45 females. Symptoms begin as soon as baby teeth erupt. It tends to run in families. The disorder was first found to occur in people who lived in Brandywine, MD, but it can also affect persons of Ashkenazi Jewish heritage. Related Disorders Symptoms of the following disorders can be similar to those of Dentinogenesis Imperfecta, Type III. Comparisons may be useful for a differential diagnosis: Radicular Dentin Dysplasia is a genetic disorder characterized by abnormal formation of tooth ivory (dentin). The teeth lack pulp chambers, or have half-moon shaped pulp chambers in short or abnormally shaped roots. The color of the teeth is usually normal. (For more information, choose "Dentin Dysplasia" as your search term in the Rare Disease Database.) Coronal Dentin Dysplasia is a genetic disorder characterized by brownish-blue opalescent baby teeth and permanent teeth that appear normal. The baby teeth in children affected by this disorder contain obliterated pulp chambers and reduced root canals. Permanent teeth also have abnormalities. (For more information, choose "Dentin Dysplasia" as your search term in the Rare Disease Database.) Osteogenesis Imperfecta, or Brittle Bone Disease, is a group of hereditary connective tissue disorders characterized by unusual bone fragility and tendency to fracture. Dentinogenesis Imperfecta is one of the features of Osteogenesis Imperfecta. (For more information, choose "Osteogenesis Imperfecta" as your search term in the Rare Disease Database.) Dentinogenesis Imperfecta Type I (DGI 1; Opalescent Dentin; Opalescent Teeth without Osteogenesis Imperfecta; Dentinogenesis Imperfecta, Shields Type II; Capdepont Teeth; Hereditary Brown Teeth) is an inherited disorder characterized by blue-gray or amber brown, opalescent teeth, without brittleness of the bones. Dental X-rays indicate the teeth have bulbous crowns, roots are narrower than normal, and pulp chambers and root canals are smaller than normal or completely absent. The tooth enamel splits readily from the ivory when the upper teeth close forcefully against the lower teeth, as in chewing or biting. Therapies: Standard Treatment for children with Dentinogenesis Imperfecta, Type III consists of placement of a full set of dental crowns over the teeth. In adults, all teeth may be extracted carefully by elevation and replaced with a full set of dentures. It is recommended that treatment is started early to improve the facial appearance of young patients. Genetic counseling is recommended for families of children with Dentinogenesis Imperfecta. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dentinogenesis Imperfecta, Type III, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasia P.O. Box 114 Mascoutah, IL 62258 (618) 556-2020 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This report in the Rare Disease Database is based on outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 193. A NEW CLASSIFICATION OF HERITABLE HUMAN ENAMEL DEFECTS AND A DISCUSSION OF DENTIN DEFECTS: E.D. Shields; Birth Defects (1983: issue 19(1)). Pp. 107-127. DENTINOGENESIS IMPERFECTA IN THE BRANDYWINE ISOLATE (DI TYPE III): CLINICAL, RADIOLOGIC, AND SCANNING ELECTRON MICROSCOPIC STUDIES OF THE DENTITION: L.S. Levin, et al.; Oral Surg (September 1983: issue 56(3)). Pp. 267-274. AN AUTOSOMAL-DOMINANT FORM OF JUVENILE PERIODONTITIS: ITS LOCALIZATION TO CHROMOSOME 4 AND LINKAGE TO DENTINOGENESIS IMPERFECTA AND Gc Journal Craniofac Genet Dev Biol GENESIS (1986: issue 6(4)). Pp. 341-350. AN UNUSUAL PRESENTATION OF OPALESCENT DENTIN AND BRANDYWINE ISOLATE HEREDITARY OPALESCENT DENTIN IN AN ASHKENAZIC JEWISH FAMILY: A. Heimler, et al.; Oral Surg al.; Oral Surg Oral Med Oral Pathol (June 1985: issue 59(6)). Pp. 608-615. Dentinogenesis Imperfecta, Type III aftow z pagetitle 551: Dentinogenesis Imperfecta, Type III 03655.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 632: Depersonalization Disorder _________________________ ** IMPORTANT ** It is possible that the main title of this article (Depersonalization Disorder) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Depersonalization Neurosis Information on the following diseases can be found in the Related Disorders section of this report: Panic-Anxiety Syndrome (Panic Disorder) Agoraphobia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Depersonalization Disorder is a psychiatric disorder affecting emotions and behavior. It is characterized by an alteration in how the patients perceive or experience their unique sense of self. The usual sense of one's own reality is temporarily lost or changed. A feeling of detachment from, or being an outside observer of one's mental processes or body occurs such as the sensation of being in a dream. Symptoms Depersonalization Disorder is marked by persistent or recurring episodes of loss of the sense of self (depersonalization), sufficient to cause marked distress. The usual sense of one's self or reality is temporarily changed or lost. A feeling of detachment from, or being an outside observer of one's mental processes or body occurs. The patient may feel as if he/she is in a dream. Various types of lack of sensory stimulation (sensory anesthesia) and a sensation of not being in complete control of one's actions, including speech, are often present. Depersonalization Disorder usually starts during adolescence or early adulthood. The disorder is usually chronic with periods of remission. More severe manifestations may be aggravated by mild anxiety or depression. The disorder usually disappears gradually. Causes Severe stress such as military combat or a car accident may trigger an episode of Depersonalization Disorder. Marijuana use may also cause attacks. The exact cause of the disorder is not known, but it is treated as a mental illness. Affected Population The prevalence and sex distribution of Depersonalization Disorder is not known. Brief periods of depersonalization during adolescence may be fairly common. Related Disorders The following disorders may be associated with Depersonalization Disorder as secondary characteristics. They are not necessary for a differential diagnosis: Panic-Anxiety Syndrome (Panic Disorder) is characterized by recurrent attacks of intense fear or discomfort beginning without warning. These attacks typically begin with the sudden onset of intense apprehension, fear, terror, or discomfort without apparent cause. At least four of the following symptoms may occur: shortness of breath (dyspnea) or smothering sensations; dizziness, unsteady feelings, or faintness; choking; palpitations or accelerated heart rate; trembling or shaking; sweating; nausea or abdominal distress; loss of one's sense of self (depersonalization) or feelings of unreality; numbness or tingling sensations (paresthesias); flushes (hot flashes) or chills; chest pain or discomfort; etc. (For more information, choose "Panic-Anxiety Syndrome" as your search term in the Rare Disease Database.) Agoraphobia is the fear of being in places or situations from which escape might be difficult or embarrassing, or in which help might not be available in the event of a panic attack. As a result of this intense fear, people with Agoraphobia do not leave their home. Common situations that may trigger an agoraphobic attack include being outside the home alone, being in a crowd or standing in line, being on a bridge, or traveling in a bus, train, or car. Therapies: Standard Treatment of Depersonalization Disorder involves psychotherapy. The antidepressant drug desipramine may be beneficial. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Depersonalization Disorder, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 National Mental Health Association 1021 Prince Street Alexandria, VA 22314 (703) 684-7722 References DESIPRAMINE: A POSSIBLE TREATMENT FOR DEPERSONALIZATION DISORDER: R. Noyes, Jr., et al.; Canadian Journal Psychiatry (December 1987: issue 32(9)). Pp. 782-784. DEPERSONALIZATION IN A NONCLINICAL POPULATION: D. Trueman; Journal Psychol (January 1984: issue 116 (1st half)). Pp. 107-112. DEPERSONALIZATION AND AGORAPHOBIA ASSOCIATED WITH MARIJUANA USE: C. Moran; British Journal Med Psychol (June 1986: issue 59(pt 2)). Pp. 187-196. Depersonalization DisorderI pagetitle 632: Depersonalization Disorder 03656.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 490: Dercum Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Dercum Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Adiposis Dolorosa Juxta-articular Adiposis Dolorosa Information on the following diseases can be found in the Related Disorders section of this report: Arthritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dercum Disease is a painful disorder characterized by pressure of fatty deposits on nerves leading to weakness. This disorder usually occurs in obese women between the ages of forty-five and sixty. Various parts of the body may swell for no apparent reason. The swelling may disappear without treatment leaving hardened tissue or pendulous skin folds. Emotional disturbances may occur in some cases. Symptoms Dercum Disease is characterized by pain and weakness caused by pressure on nerves by abnormal fatty deposits near joints. Swellings consisting of irregularly shaped soft fatty tissue deposits may occur in many parts of the body. The knees, trunk, forearms and thighs are most commonly affected. These deposits may spontaneously resolve leaving hardened tissue or pendulous folds of skin. Some patients may experience feelings of depression, but it is not known whether these emotional feelings are a symptom of the disorder or a response to the pain of the chronic illness. Causes The exact cause of Dercum Disease is not known. Some physicians suggest it may be genetic or it may be associated with an unidentified endocrine abnormality. Affected Population Dercum Disease usually affects obese females between the ages of forty-five and sixty years. It has been recorded in more than one member of the same family. However, rare cases affecting men have been reported in the medical literature, and it has been known to affect people of normal weight. Related Disorders Symptoms of the following disorders can be similar to those of. Comparisons may be useful for a differential diagnosis: Arthritis is defined as inflammation of a joint. All forms of arthritis are marked by some degree of pain and/or swelling as well as a wide variety of other symptoms. This disorder may be chronic or short-term; sometimes it is progressive. (For more information on rare forms of this disorder, choose "Arthritis" as your search term in the Rare Disease Database and see the Arthritis section of the Prevalent Health Conditions/Concerns area of NORD Services). Therapies: Standard Treatment of Dercum Disease is primarily directed at easing painful episodes. Surgical excision of fatty tissue deposits around joints may temporarily relieve symptoms although recurrences often develop. Intravenous infusions of the local anesthetic drug lidocaine can give temporary relief from pain. Additional treatments of lidocaine may be necessary periodically to sustain the effect. Another analgesic drug, peroral mexiletine, may also be effective in eliminating pain for variable periods of time. Psychotherapy may be helpful for enabling patients to cope with long-term intense pain. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dercum Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 American Chronic Pain Association, Inc. 257 Haymaker Rd. Monroeville, PA 15146-1711 (412) 856-9676 National Chronic Pain Outreach Association 8222 Wycliffe Ct. Manassas, VA 22110 (703) 368-7357 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 26. A CASE OF ADIPOSIS DOLOROSA: LIPID METABOLISM AND HORMONE SECRETION: A. Taniguchi, et al.; Int J Obes (1986, issue 10 (4)). Pp. 277-281. DERCUM'S DISEASE (ADIPOSIS DOLOROSA). A CASE REPORT AND REVIEW OF THE LITERATURE: T.J. Bonatus, et al.; Clin Orthop (April 1986, issue 205). Pp. 251-253. DERCUM'S DISEASE (ADIPOSIS DOLOROSA). TREATMENT OF SEVERE PAIN WITH INTRAVENOUS LIDOCAINE: P. Petersen, et al.; Pain (January 1987, issue 28(1)). Pp. 77-80. Dercum Disease pagetitle 490: Dercum Disease 03657.TXT ` S Copyright (C) 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 801: Dermatitis, Atopic _________________________ ** IMPORTANT ** It is possible that the main title of the article (Dermatitis, Atopic) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Atopic Eczema Besnier Prurigo Constitutional Eczema Dermatitis Disseminated Neurodermatitis Eczema Information on the following disorders can be found in the Related Disorders section of this report: Contact Dermatitis Dyshidrosis Psoriasis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Atopic Dermatitis is a common chronic inherited form of eczema. Eczema is a skin condition characterized by redness, swelling (edema), oozing, crusting, scaling, burning pain, and itching (pruritus). Scratching or rubbing eczema may lead to thickening and marking of the skin (lichenification). The causes of eczema fall into two classifications: 1) constitutional eczema (Atopic Dermatitis), and 2) external eczema which is caused by allergies, irritations, or chemical reactions such as in Contact Dermatitis (see Related Disorders section for more information). Symptoms Atopic Dermatitis is a chronic inherited form of eczema characterized by red, oozing and weeping skin inflammation with itching. There are three forms: infantile, childhood, and adult eczema. Usually, the first two forms clear up during childhood. The adult form may become either widespread over the entire body surface or may be limited to a small area such as on the hands or scalp only. Patients with this form of eczema usually have highly sensitive skin, decreased skin-oil production, a low itch tolerance, and abnormal sweating activity. Clothing (especially wool or silk), emotional stress, harsh soap, grease, oils, some detergents, extreme heat or cold, sweating, or irritating medications may trigger Atopic Dermatitis. Itching may lead to excessive scratching which worsens the condition and is referred to as the "itch-scratch-itch syndrome." In many patients, other allergies such as asthma, hay fever or hives often accompany Atopic Dermatitis. Food hypersensitivity in children may also be associated with Atopic Dermatitis. However, the eczema is not caused by pollen or other airborne irritants. Causes The exact cause of Atopic Dermatitis is not known, although the susceptibility to eczema is believed to be an inherited trait. In children with food allergies or hypersensitivity, an immune response may trigger reactions within the skin. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. It has not been clearly established yet whether Atopic Dermatitis is inherited as an autosomal dominant or recessive trait. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Atopic Dermatitis primarily affects infants and children, although there is an adult form as well. It affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Atopic Dermatitis. Comparisons may be useful for a differential diagnosis: Contact Dermatitis is a common disorder characterized an acute or chronic skin inflammation triggered by substances that come in contact with the skin. Allergic Contact Dermatitis may be due to delayed hypersensitivity. (For more information on this disorder, choose "Contact Dermatitis" as your search term in the Rare Disease Database). Dyshidrosis (Difficult Sweating; Hand Eczema; Cheiropompholyx; Pompholyx) is a disorder of unknown cause, characterized initially by deep-seated itchy blisters or elevated spots usually on the sides of the fingers. Later, the skin of the hands may become dry, scaly, hardened, and fissured. The feet may also be affected. Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots or plaques which usually appear on the scalp, elbows, knees, back, or buttocks. In a few cases, the entire body may be affected. (For more information on this disorder, choose "Psoriasis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Atopic Dermatitis usually involves a combination of environmental, personal, and medical measures. Diagnosis of the disorder can be made by blood tests for the immunoglobulin levels in the blood. Treatment of Atopic Dermatitis includes emollient creams to keep the skin lubricated, corticosteroid creams and antihistamines to decrease itching, and antibiotics such as hydroxizine (Atarax) and diphenhydramine (Benadryl) for secondary bacterial infections. Tar preparations or ultraviolet light therapy may also benefit the patient. Wet compresses or dressings may help when the skin is oozing or weeping. Mild lanolin-based soaps and bath oil are generally recommended for bathing. Mild laundry detergents can be used to prevent clothing from irritating the skin. Therapies: Investigational Research on diseases of the skin is ongoing at the National Institute of Arthritis, Musculoskeletal and Skin Diseases which is listed in the Resources section of this report. Clinical trials are underway to study patients with Hyper-IgE Syndrome and high serum IgE levels. Interested persons may wish to contact: Rebecca H. Buckley, M.D. Box 2898 Duke University Medical Center Durham, NC 27710 (919) 684-2922 to see if further patients are needed for this research. This disease entry is based upon medical information available through January 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Atopic Dermatitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References THE COLUMBIA UNIVERSITY COLLEGE OF PHYSICIANS AND SURGEONS COMPLETE HOME MEDICAL GUIDE: Donald F. Tapley, M.D., et al., eds; Crown Publishers, Inc., 1985. Pp. 624, 641. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1377-1378. MENDELIAN INHERITANCE IN MAN, 8th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 832. WORLD BOOK MEDICAL ENCYCLOPEDIA: Erich E. Brueschke, M.D., et al., eds; World Book, Inc., 1988. Pp. 295-296. Dermatitis, Atopica! d!pagetitle 801: Dermatitis, Atopic 03658.TXT (Copyright (C) 1988, 1989, 1991, 1993 National Organization for Rare Disorders, Inc. 571: Dermatitis, Contact _________________________ ** IMPORTANT ** It is possible that the main title of this article (Contact Dermatitis) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Dermatitis Medicamentosa Dermatitis Venenata Delayed Hypersensitivity Drug Hypersensitivity DISORDER SUBDIVISIONS Irritant Contact Dermatitis Allergic Contact Dermatitis Photoallergic and Phototoxic Contact Dermatitis Information on the following disorders can be found in the Related Disorders section of this report: Atopic Dermatitis Dyshidrosis Psoriasis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Contact Dermatitis is an acute or chronic skin inflammation triggered by substances that come in contact with the skin. Allergic Contact Dermatitis may be due to delayed hypersensitivity. Symptoms Contact Dermatitis is a common disorder characterized by skin inflammation (dermatitis) and possibly blisters when the disorder is acute. Redness, swelling (edema), oozing, crusting, scaling, burning pain and usually itching may also occur. Scratching or rubbing may lead to thickening of the skin with changed markings (lichenification). Irritant Contact Dermatitis, when it is due to strong chemical irritants, usually appears immediately after contact with the skin. When it is caused by a milder irritant, the skin inflammation may take longer to become apparent. Allergic Contact Dermatitis represents a delayed allergic reaction; e.g., to poison ivy or certain medications such as aspirin or antibiotics. The period between the time of exposure and appearance of symptoms may range from a few hours to days or weeks. Patients may unexpectedly become hypersensitive (allergic) to some of the dermatologic medications or cosmetics that they may have used for years. Photoallergic and Phototoxic Contact Dermatitis require exposure to light following the application of certain chemicals. Reactions appear to be an exaggerated response to sunlight. Chemicals that are commonly responsible for Photoallergic Contact Dermatitis include aftershave lotions, perfumes, and locally applied sulfonamides. Certain substances used in perfumes or drugs (psoralens), coal tar, and cutting oils may also cause Photoallergic Contact Dermatitis. Hypersensitivity to sunlight caused by certain types of drugs are NOT a form of Photoallergic Contact Dermatitis. Rather, abnormal reactions to sunlight are a side effect of these drugs (usually antibiotics.) Causes The list of agents that can cause Contact Dermatitis is endless since new chemicals are manufactured constantly, and each person may be sensitive or allergic to different substances. The disorder may be caused either by irritants or by allergic sensitizers (allergens). Some of the more common causative agents are: 1. Chemical irritants: Rhus oleoresin (found in poison ivy and poison oak) Acids Alkalis Free Formaldehyde used in permanent press clothing Tanning agents used in the manufacture of shoes Solvents Oils Plastics Resins Phenol Acrylates Chrome compounds (Chromates) Mercury compounds Nickel compounds Cosmetics such as hair removers (depilatories), nail polish and nail polish remover (acetone), or deodorants Dyes such as Phenyldiamine and others Rubber chemicals and antioxidants in gloves, shoes, elastic underwear, and other wearing apparel Petroleum products not used as solvents Glass dust and fiberglass 2. Dermatologic Medications: Local Anesthetics such as benzocaine Antibiotics such as neomycin, penicillin, sulfonamides Antihistamines such as diphenhydramine, promethazine Antiseptics such as thimerosal, hexachlorophene Preservatives such as parabens Stabilizers such as ethylene diamine and substances derived from ethylene diamine 3. Plant and wood substances: Burning nettle Citrus fruit Poison ivy, oak, or sumac Pink rot celery Primrose Ragweed 4. Physical agents: Ionizing and nonionizing radiation Wind Sunlight Temperature extremes Humidity 5. Biological agents: Bacteria Viruses Fungi Ectoparasites such as mites, ticks, fleas, etc. Sweat or saliva (particularly the saliva of house pets) 6. Mechanical factors: Pressure Friction Vibration Affected Population Contact Dermatitis affects males and females of all ages in equal numbers. Hypersensitivity usually increases with each subsequent exposure. Of all occupational skin disorders in the United States, 90 percent are forms of Contact Dermatitis. Persons who have allergies, asthma and hay fever should stay away from jobs that put them in touch with water, dirt or chemicals. Thirty percent of Contact Dermatitis are caused by irritants, 70% by allergies. In July 1991, the Centers for Disease Control (CDC) in Atlanta, GA, reported cases of extreme life-threatening allergic reactions (anaphylactic shock) to latex occuring in children with Spina Bifida who have undergone surgery for Spina Bifida. Latex is commonly used in many medical products such as gloves, endotracheal tubes, and urinary catheters. It has been suggested that any elective surgery be postponed until the reason for the increased risk of anaphalaxis in children with Spina Bifida can be determined. If a surgical procedure cannot be postponed, then caution should be taken to avoid or minimize any contact with latex. Related Disorders Symptoms of the following disorders may be similar to those of Contact Dermatitis. Comparisons can be useful for a differential diagnosis: Atopic Dermatitis (Besnier Prurigo; Atopic Eczema; Constitutional Eczema; Disseminated Neurodermatitis) is a chronic, inherited form of eczema. The disorder is characterized by red, oozing and weeping skin inflammation with itching. Atopic Dermatitis can occur in three forms: infantile, childhood, and adult eczema. Usually, the first two forms clear up during childhood. The adult form may become either widespread over the body surface, or may be limited to a small area; e.g. on the hands or scalp only. Dyshidrosis (Difficult Sweating; Hand Eczema; Cheiropompholyx; Pompholyx) is a disorder of unknown cause, characterized initially by deep-seated itchy blisters or elevated spots usually on the sides of the fingers. Later, the skin of the hands may become dry, scaly, hardened, and fissured. The feet may also be affected. Psoriasis is a common chronic and recurrent skin disorder characterized by dry, well-circumscribed silvery gray scaling spots (papules) or plaques which usually appear on the scalp, elbows, knees, back, or buttocks. In a few cases, the entire body may be affected. (For more information, choose "Psoriasis" as your search term in the Rare Disease Database.) Therapies: Standard Contact Dermatitis can almost always be prevented by a combination of environmental, personal, and medical measures. Diagnosis of the disorder can be made by blood tests for the immunoglobulin levels in the blood and skin tests for delayed-hypersensitivity against specific agents causing the reaction. Treatment for Contact Dermatitis consists in removing the agent that causes the skin inflammation whenever possible. For treatment of mild Contact Dermatitis, over-the-counter hydrocortisone creams may b applied to the affected areas. For acute severe cases, prednisone may be prescribed. Antihistamines can be used to decrease itching, and antibiotics to treat possible secondary bacterial infections. Local cortisone preparations can be prescribed for chronic forms of Contact Dermatitis. Local treatment for acute weeping Dermatitis includes the use of wet compresses (water or aluminum subacetate) and cortisone lotions. Therapies: Investigational This disease entry is based upon medical information available through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Contact Dermatitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Asthma and Allergy Foundation of America 1835 K Street, N.W., Suite P-900 Washington, DC 20007 (202) 293-2950 Allergy Information Association 25 Poynter Drive, Suite 7 Weston, Ontario, MR9 1K8 Canada The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Eczema Association for Science and Education 1221 South West Yamhill, #303 Portland, OR 97205 (503) 228-4430 References ALLERGIC CONTACT DERMATITIS IN CHILDREN: W.L. Weston, et al.; Am Journal Dis Child (October 1984: issue 138(10)). Pp. 932-936. HOUSEHOLD TREATMENT FOR "CHILE BURNS" OF THE HANDS: L.A. Jones, et al.; Journal Toxicol Clin Toxicol (1987: issue 25(6)). Pp. 483-491. LOCAL AND SYSTEMIC DESENSITIZATION INDUCED BY REPEATED EPICUTANEOUS HAPTEN APPLICATION: G.H. Boerrigter, et al.; Journal Invest Dermatol (January 1987: issue 88(1)). Pp. 3-7. INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al., eds; Little, Brown, 1987. Pp. 1377-1378, 2268-2269. Dermatitis, Contact iona') *)pagetitle 571: Dermatitis, Contact 03659.TXT 'Copyright (C) 1986, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 262: Dermatomyositis _________________________ ** IMPORTANT ** It is possible the main title of the article (Dermatomyositis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names covered by this article. Synonyms Childhood Dermatomyositis Primary Idiopathic Dermatomyositis in Adults Dermatomyositis associated with malignant tumors Dermatomyositis associated with connective tissue disease overlap syndromes, including Sclerodermatomyositis and Mixed Connective Tissue disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Dermatomyositis is a systemic connective tissue disorder characterized by inflammatory and degenerative changes in the muscles and in the skin. Symptoms Symptoms of Dermatomyositis may start gradually or suddenly. The symptoms often wax and wane for no apparent reason. The major symptom of the disorder is muscle weakness, most often in the hip and shoulder areas, eventually making it difficult for patients to lift their arms or to climb steps. Other muscles which may be affected are the neck and throat muscles, which may result in difficulty swallowing and cause changes in the voice. Rarely, chest muscles may be affected. The muscle weakness may appear suddenly and progress over weeks to months. Difficulty in swallowing and dilatation of the lower esophagus and small intestine may be indistinguishable from that in Scleroderma (For more information on Scleroderma, choose "scleroderma" as your search term in the Rare Disease Database.) The muscles of the hands, feet and face often escape involvement. Contractures of the limbs may eventually develop. The person with Dermatomyositis may develop a patchy, reddish skin rash on the face, around the eyes, on the knuckles and elbows and sometimes on the knees and ankles. The skin lesions frequently fade completely but may be followed by brownish pigmentation, atrophy, scarring or loss of pigmentation (vitiligo). (For more information, choose "vitiligo" as your search term in the Rare Disease Database.) Some people also experience puffy eyelids. Other symptoms may include fever, weight loss and occasionally pain or tenderness in muscles and joints. A few people with Dermatomyositis have an extreme sensitivity to cold that is most often felt in the fingers (Raynaud's Phenomenon). This is caused by spastic narrowing of blood vessels in the fingers. (For more information, choose "Raynaud" as your search term in the Rare Disease Database). People with Dermatomyositis may also develop numb and shiny red areas around and under the finger nails. The characteristic skin changes in this disorder can suggest scleroderma in some patients. Subcutaneous calcification may occur, particularly in childhood Dermatomyositis. This is similar in distribution to that encountered in Scleroderma, but tends to be more extensive (calcinosis universalis), particularly in untreated or undertreated patients. Pain in many joints (polyarthralgia), accompanied at times by swelling, fluid and other evidence of non-deforming arthritis, occurs in approximately one third of patients with dermatomyositis. These rheumatic complaints tend to be mild and respond well to corticosteroids. Gastrointestinal involvement, except for the pharynx and the esophagus, is relatively uncommon in Dermatomyositis. Inflammation of the lungs with an increase of interstitial tissue (interstitial pneumonitis) is manifested by difficulty breathing and by coughing. These respiratory symptoms may precede myositis and dominate the clinical picture. Involvement of the heart, detected chiefly by irregularities in the electrocardiogram (ECG), has been reported. Acute kidney failure can occur as a consequence of excess muscle protein "myoglobin" in the urine (Crush syndrome) due to severe acute disintegration of muscle (rhabdomyolysis). Sjogren syndrome can also occur in some patients with Dermatomyositis. (For more information, choose "Sjogren" as your search term in the Rare Disease Database). Abdominal symptoms, more common in children, may be associated with the passage of dark stools or the vomiting of blood from gastro-intestinal ulcers that may progress to perforation and require surgical intervention. An associated malignancy, usually a carcinoma, may occur in about 15% of men and a smaller proportion of women over age 50 with Dermatomyositis. Causes The cause of Dermatomyositis is unknown. The disorder may be caused by the body's natural immune defense mechanisms attacking its own healthy tissue (autoimmune reaction). Viruses may also play a role. Affected Population Dermatomyositis may appear at any time from infancy through age 80, but most commonly it occurs between 40 to 60 years. In children, the symptoms usually appear between the ages of 5 to 15 years. Females are affected twice as often as males. Related Disorders Scleroderma (Progressive Systemic Sclerosis) is a rare, chronic collagen vascular disorder characterized by diffuse hardening, degenerative changes and vascular inflammation of the connective tissues of the skin, joints and many visceral organs. It shares certain clinical findings with dermatomyositis. Systemic Lupus Erythematosus (SLE) is an inflammatory connective tissue disorder that can affect many parts of the body including the joints, skin and internal organs. SLE is a disease of the body's immune system. It shares certain clinical findings with dermatomyositis. Polymyositis is a form of a systemic connective tissue disorder characterized by inflammatory and degenerative changes in the muscles, leading to weakness and some degree of muscle atrophy. The areas principally affected are the hip, shoulder and chest muscles. (For more information on these related disorders, choose "Scleroderma", "Lupus", or "Polymyositis" as your search terms in the Rare Disease Database.) Therapies: Standard Corticosteroids such as prednisone, together with antacids and potassium supplements, are widely used in treatment of dermatomyositis. Measurement of muscle enzyme activity is used to gauge the effectiveness of therapy. Reduction of these enzymes to normal values is noted in a majority of patients with this disorder within 4 to 6 weeks after treatment is started. This is followed by an improvement in muscle strength. At this point the dose of prednisone can usually be reduced slowly. In many cases of adult dermatomyositis prolonged maintenance therapy with prednisone may be necessary. Children with dermatomyositis may be able to discontinue prednisone after a year or more, experiencing apparent remission. Immunosuppressive drugs such as methotrexate, cyclophosphamide, chlorambucil and azathioprine have been beneficial to some patients who fail to respond to corticosteroids alone. Some patients have received methotrexate for 5 years or longer for control of this disorder. Therapies: Investigational The FDA has approved testing of the orphan product Immune Globulin Intravenous Human (Iveegan, Immuno) for the disease Dermatomyositis. The drug is sponsored by Iuumno Clinic Research Corp., New York, NY. Cyclosporine (Sandimmune) may be of potential benefit for treating a number of dermatologic diseases. These include Pemphigus and Bullous Pemphigoid, Posterior Uveitis and Behcet's Syndrome, collagen vascular disorders such as severe Dermatomyositis, Sjogren's Syndrome, and Scleroderma, Mycosis Fungoides, and Alopecia Areata. Certain types of skin grafts have also shown improvement after cyclosporine treatment, in some cases. However, this drug may also be associated with severe and life-threatening side effects which would limit its use in many patients. Careful monitoring of this drug by a physician is necessary to guard against possible toxic side effects. Relapses can occur when the drug is discontinued. More research is needed before cyclosporine can be recommended as a treatment for all but the most severe cases of the disorders listed above. Even for the most severe cases its use is still experimental, and long-term effects are unknown. Studies are being conducted in the use of Sandoglobulin as a treatment for Dermatomyositis. Further investigation is needed to determine it's safety and effectiveness. This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Dermatomyositis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Dermatomyositis and Polyomyositis Support Group 146 Newtown Rd. Woolston, Southhampton SO2 9HR England Phone Southhampton 449708 Arthritis Foundation 1314 Spring Street, N.W. Atlanta, GA 30309 (404) 872-7100 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References POLYMYOSITIS AND DERMATOMYOSITIS: C. M. Pearson; Arthritis Medical Information Series, Arthritis Foundation, 1983. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1280. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1978, 2341. Dermatomyositis (pagetitle 262: Dermatomyositis 03660.TXT @">"Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 479: Devic Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Devic Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Neuromyelitis Optica Optic Neuromyelitis Opthalmoneuromyelitis Optic Neuroencephalomyelopathy Opticomyelitis Devic Syndrome Retrobulbar Neuropathy Information on the following diseases can be found in the Related Disorders section of this report: Acute Transverse Myelitis Guillain-Barre Syndrome Acute Disseminated Encephalomyelitis (Postinfectious Encephalitis) Multiple Sclerosis Systemic Lupus Erythematosus General Discussion ** IMPORTANT ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Devic Disease is a rare nerve disorder characterized by loss (demyelination) of the fatty sheath surrounding the optic nerve and nerves in the spinal cord. This disorder can begin at any age after puberty. An initial phase consisting of a slight fever, sore throat and/or head cold often occurs. Loss of clear vision is accompanied by mild paralysis (usually of the lower limbs) and loss of bladder and bowel control. Devic Disease can occur spontaneously, or in conjunction with Multiple Sclerosis or Systemic Lupus Erythematosus. (For more information on these disorders, choose "MS" and "Lupus" your search terms in the Rare Disease Database). Symptoms Devic Disease is initially marked by a slight fever, sore throat, and/or head cold. Inflammation, loss (demyelination) of the fatty tissue sheath surrounding nerves, and softening and swelling of the optic nerve leads to pain inside the eye and eventually, loss of clear vision. Initially, only one eye may be affected although later both eyes become involved. Following this, spinal cord abnormalities associated with mild paralysis (paraparesis) of the lower limbs and loss of bowel and bladder control tend to develop. Deep tendon reflexes are diminished or absent and variable sensory loss occurs. However, paralysis often improves with time, and partial recovery of vision difficulties usually occurs. Causes The exact cause of Devic Disease is not known. Cases of this disorder may occur spontaneously, usually following a fever, or they may occur in conjunction with Multiple Sclerosis or Systemic Lupus Erythematosus. (For more information on these disorders, choose "MS" and "Lupus" as your search terms in the Rare Disease Database). Some researchers believe Devic Disease may be an autoimmune disorder, or that it may be genetic. Autoimmune disorders occur when the body's natural defenses against disease or invading organisms (such as bacteria), for unknown reasons, suddenly begin to attack healthy tissue. In this case, these defenses may attack healthy fatty tissue surrounding the optic and spinal nerves. Affected Population Devic Disease affects males and females in equal numbers, and may occur as a feature of Multiple Sclerosis or Systemic Lupus Erythematosus. In some cases, it may affect patients following a disease which included fever as a symptom. Related Disorders Symptoms of the following disorders can be similar to those of Devic Disease. Comparisons may be useful for a differential diagnosis: Acute Transverse Myelitis is an acute inflammation, with softening of the spinal cord. Spinal nerves of a limited lengthwise section of the spinal cord are affected by obstruction of blood vessels, swelling, cellular loss or infiltration, and loss of the fatty tissue around the nerves (demyelination). Guillain-Barre Syndrome (Acute Idiopathic Polyneuritis) is an autoimmune disorder which occurs when the body's defense system attacks the nerves, damaging the nerve's fatty sheath (myelin) and axis cylinder (axon). Nerve signals are delayed and altered, causing weakness and paralysis of the muscles of the legs, arms, and other parts of the body along with abnormal sensations. Fischer's Syndrome (a form of polyneuroradiculitis marked by ophthalmoplegia, ataxia and arreflexia) and Chronic Idiopathic Polyneuritis (chronic inflammation of groups of spinal nerve cells with an unknown origin) are two very rare forms of the disorder. (For more information on this disorder, choose "Guillain-Barre Syndrome" as your search term in the Rare Disease Database). Acute Disseminated Encephalomyelitis (Postinfectious Encephalitis) is a central nervous system disorder characterized by inflammation of the brain and spinal cord caused by damage to the fatty sheath surrounding the nerves. This can occur spontaneously, but usually follows a viral infection or inoculation such as a bacterial or viral vaccine. The following disorders may precede the development of Devic Disease. They can be useful in identifying an underlying cause of some forms of this disorder: Multiple Sclerosis is a chronic disease of the brain and spinal cord (central nervous system) which may be progressive, relapsing and remitting, or stable. The pathology of MS consists of small lesions called plaques that form randomly throughout the brain and spinal cord. These plaques are due to loss of the fatty sheath surrounding nerves and prevents proper transmission of nervous system signals and thus result in a variety of neurological symptoms. Most patients with MS have a near normal life span. Symptoms often include visual difficulties as well as speech impairment, abnormal skin sensations or numbness, gait disturbance, and difficulties with bladder and bowel function. In a small number of cases, Devic Disease has occurred as a complication of MS. (For more information on this disorder, choose "MS" as your search term in the Rare Disease Database). Systemic Lupus Erythematosus (also known as Lupus) is an inflammatory connective tissue disease that can affect many parts of the body including the joints, skin and internal organs. Lupus is a disease of the body's immune system, most often striking young women between the ages of fifteen and thirty-five years. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database). Therapies: Standard Early treatment of Devic Disease using ACTH hormone or corticosteroid drugs usually controls inflammation of the optic nerve and spine. Other treatment is symptomatic and supportive. Therapies: Investigational Lymphocytoplasmapheresis is being investigated as a possible treatment for patients with Devic Disease. This procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood or lymph cells are separated from plasma. The new plasma is then transfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before lymphocytoplasmapheresis can be recommended for use in all but the most severe cases of Devic Disease. This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Devic Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute (NEI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References LYMPHOCYTAPLASMAPHERESIS IN DEVIC'S SYNDROME: A.J. Aguilera, et al.; Transfusion (January-February 1985, issue 25(1)). Pp. 54-56. DEVIC'S SYNDROME AND SYSTEMIC LUPUS ERYTHEMATOSUS: A CASE REPORT WITH NECROPSY: E.L. Kinney, et al.; Arch Neurol (October 1979, issue 36 (10)). Pp. 643-644. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 2246. Devic Disease Beth3# 6#pagetitle 479: Devic Disease 03629.TXT pagetitle 172: Cowpox Copyright (C) 1986 National Organization for Rare Disorders, Inc. 172: Cowpox _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cowpox) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Vaccinia Bovine Smallpox General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cowpox is a viral disease normally affecting the udders and teats of cows which is occasionally transmitted to man. A characteristic rash, inflammation, edema and enlarged lymph nodes develop. The virus that causes cowpox is used in the vaccine against smallpox; thus, some human cowpox infections are reactions to the vaccination. Cowpox lesions heal after several days or weeks without scars. The infection may occasionally spread to other body systems causing more serious complications. Symptoms The rash characteristic of human cowpox infection consists of numerous bumps and sterile or pus-filled blisters which may become inflamed, bloody and ulcerated. The rash occurs on exposed skin, (i.e., the face and extremities). There may by subcutaneous swelling and the lymph nodes tend to enlarge. Occasionally, the virus is able to spread to other parts of the body and become systemic. This occurs in patients with an impaired immune system. The tissue around the original skin lesions is destroyed and more lesions develop throughout the body. This form of cowpox is called Vaccinia Gangrenosa or Progressive Vaccinia and can be fatal. In generalized Vaccinia, which can result from smallpox vaccination, the virus is found in the blood and the typical skin lesions occur. This is usually a very mild, benign condition which lasts only a few days as antibodies against the virus, and its close relative the smallpox virus, quickly develop. Other complications can arise if bacteria infect or enter the body through the skin lesions causing various kinds of secondary infections. Another serious complication is postinfectious meningoencephalitis, i.e., inflammation of the brain and its covering membranes after the infection itself has passed. Causes Cowpox is caused by viruses called vaccinia. Cowpox can be transmitted to humans directly by handling infected cows' udders. In other cases, the infection results from vaccination against smallpox (the vaccine against smallpox consists of cowpox virus, or vaccinia), and usually indicates a pre-existing immune deficiency of some kind. Affected Population Cowpox primarily affects persons in contact with infected cows. Related Disorders Smallpox, a far more severe and disfiguring disease, is closely related to Cowpox, as evidenced by the fact that cowpox viruses are used in vaccinating against smallpox. Therapies: Standard As in the case of most viral infections, there is no specific treatment against Cowpox. Lotions or creams may alleviate discomfort and protect against secondary bacterial infection of the lesions. Bed rest speeds recovery. Complications are treated symptomatically. (For more information on the treatment of progressive vaccinia infections, choose immunodeficiency as your search term in the Rare Disease Database.) Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cowpox, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infectious Disease (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1792-3. Cowpox 03630.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 735: Craniometaphyseal Dysplasia _________________________ ** IMPORTANT ** It is possible that the main title of the article (Craniometaphyseal Dysplasia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Osteochondroplasia Information on the following diseases can be found in the Related Disorders section of this report: Pyle's Disease Osteopetrosis Frontometaphyseal Dysplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Craniometaphyseal Dysplasia is a rare genetic disorder that is characterized by head and facial abnormalities, hearing loss and bone deformities of the legs. Symptoms Craniometaphyseal Dysplasia is a genetic disorder that is usually evident at birth. This disorder is characterized by the abnormal growth (hyperostosis) or hardening of the bones of the forehead and back of the head. The facial bones may show thickening, especially at the bridge area of the nose and lower jaw bone (mandible). The nose is abnormally small with narrow nasal passages and inflammation of the mucous membranes (rhinitis). The eyes are widely spaced and bulging (proptosis). If cranial pressure is not relieved there may be facial paralysis, deafness and loss of vision due to compression of the brain and cranial nerves. The limbs may be affected by a hardening (sclerosis) or broadening of the shaft of the long bones close to the growth center (metaphyseal splaying). Intelligence is usually normal. Causes The exact cause of Craniometaphyseal Dysplasia is not known. It is believed to be inherited as an autosomal dominant genetic trait, but may also be inherited as a recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Craniometaphyseal Dysplasia is a very rare disorder that affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Craniometaphyseal Dysplasia. Comparisons may be useful for a differential diagnosis: Pyle's Disease is often confused with Craniometaphyseal Dysplasia. It is a rare genetic disorder characterized by head and facial abnormalities, and multiple skeletal deformities. Occasionally there may be muscle weakness, joint pain, fractures, an elongated big toe, curvature of the spine (scoliosis) and misplaced teeth. Osteopetrosis is a rare genetic bone disorder. It can be inherited as either a dominant or recessive trait. Initial symptoms of the dominant form of Osteopetrosis may include bone fragility leading to easy fractures and unusual dental problems. Bone pain may occur in the spine, and cranial nerves may be affected. Some vision defects or facial palsy may also be symptomatic of the dominant form of Osteopetrosis. Severe anemia may occur due to obliteration of the bone marrow. A more serious recessive form of Osteopetrosis is present at birth and can be diagnosed by skeletal x-rays. Symptoms may include retardation of growth, enlargement of the head, a deformity of the base of the skull and delayed closure of the soft spot on the skull of infants with this disorder. Vision failure, cataracts, deafness, dental decay, chest deformity and brain damage are also symptomatic of the more severe form of Osteopetrosis. (For more on this disorder, choose "Osteopetrosis" as your search term in the Rare Disease Database.) Frontometaphyseal Dysplasia is a rare genetic disorder characterized by coarse facial features that include a wide nasal bridge, widely spaced eyes, overgrowth of the bone over the eyes (supraorbital bossing), small jawbone (mandible) and an incomplete development of the sinuses. There may also be multiple deformities of the teeth and bones. Occasionally mental retardation may occur. Therapies: Standard Early surgical treatment of Craniometaphyseal Dysplasia to relieve cranial pressure and correct the facial deformities may help eliminate the sight and hearing complications associated with this disorder. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Craniometaphyseal Dysplasia, National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 National Foundation for Facial Reconstruction 550 First Ave. New York, NY 10016 (212) 340-5400 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 8th ed.: McKusick; Johns Hopkins University Press, 1986. Pp. 181, 879. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones, M.D.; W.B. Saunders Co., 1988. Pp. 349. CRANIOMETAPHYSEAL DYSPLASIA. F. Martin; J LARYNGOL OTOL (February 1977, issue 91 (2)). Pp. 159-169. OPTIC ATROPHY AND VISUAL LOSS IN CRANIOMETAPHYSEAL DYSPLASIA. C. Puliafito, et al.; AM J OPTHALMOL (November 1981, issue 92 (5)). Pp. 696-701. CRANIOMETAPHYSEAL DYSPLASIA--VARIABILITY OF EXPRESSION WITHIN A LARGE FAMILY. P. Breighton, et al.; CLIN GENET (March 1979, issue 15 (3)). Pp. 252-258. AUTOSOMAL DOMINANT CRANIOMETAPHYSEAL DYSPLASIA. CLINICAL VARIABILITY. A. Carnevale, et al.; CLIN GENET (January 1983, issue 23 (1)). Pp. 17-22. Craniometaphyseal Dysplasia pagetitle 735: Craniometaphyseal Dysplasia 03631.TXT &Copyright (C) 1992 National Organization for Rare Disorders, Inc. 932: Craniosynostosis, Primary _________________________ ** IMPORTANT ** It is possible that the main title of the article (Primary Craniosynostosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Craniostenosis CSO Kleeblattschadel Deformity Plagiocephaly Scaphocephaly Trigonocephaly Turricephaly Disorder Subdivisions: Kleeblattschadel Deformity Plagiocephaly Scaphocephaly Trigonocephaly Turricephaly General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Primary Craniosynostosis is a rare disorder of the skull that may be inherited as an autosomal dominant or autosomal recessive genetic trait. Premature closure of the bones (sutures) in the skull result in an abnormally shaped head. The severity of symptoms and shape of the skull depend on which skull bones are prematurely closed. This disorder is present at birth. Symptoms Primary Craniosynostosis is a rare disorder characterized by premature closure of the bones of the skull. The shape of the head may be altered while the size is normal. The shape of the skull depends on which type of premature closure the patient is born with. Kleeblattschadel Deformity is a type of craniosynostosis in which there is premature closure of multiple or all bones of the skull (sutures). This condition causes the head to form a cloverleaf shape. The head may be larger than normal due to accumulation of fluid (hydrocephaly) in the skull. Plagiocephaly is a form of craniosynostosis in which the coronal joint of the skull closes on one side. This causes the head to look twisted or lopsided. The forehead and orbit of the eye are flat on one side. Bulging of the forehead may be apparent. This form of the disorder is more common in females. Scaphocephaly is a form of craniosynostosis in which the sagittal joint is closed prematurely. This is the line where the two bones that form the side of the skull meet. Premature closure of this suture causes a long narrow head. Scaphicephaly is the most common form of craniosynostosis. Trigonocephaly is a form of craniosynostosis in which there is premature closure of the bones of the forehead (metopic suture). This condition causes a keel-shaped forehead and eyes that are set close together (hypotelorism). Patients with this form of craniosynostosis are at risk for abnormal development of the forebrain. Turricephaly is characterized by premature closure of both the coronal and sagittal joints of the skull. This causes an upward growth of the head giving it a long narrow appearance with a pointed top. Causes Primary Craniosynostosis is a rare disorder that may be inherited as an autosomal recessive or autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Primary Craniosynostosis is a rare disorder that generally affects males slightly more often than females. There have been a few hundred cases of this disorder reported in the medical literature. The genetically recessive cases of this disorder in the United States have been associated with people of Amish ancestry in Ohio. Related Disorders The following disorders may be associated with Craniosynostosis as secondary characteristics. They are not necessary for a differential diagnosis: Apert Syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by fused or webbed fingers and toes (syndactyly), a pointed head (acrocephaly or oxycephaly), other skeletal and facial abnormalities, and mental retardation. (For more information on this disorder, choose "Apert Syndrome" as your search term in the Rare Disease Database). Carpenter Syndrome is a rare disorder inherited as an autosomal recessive genetic trait. This disorder is characterize by an unusual shape of the head (oxycephaly) as well as deformities of the hands (brachysyndactyly) and feet (preaxial polydactyly). (For more information on this disorder, choose "Carpenter Syndrome" as your search term in the Rare Disease Database). Crouzon Disease is a rare disorder inherited as an autosomal dominant genetic trait. Symptoms of this disorder may be: abnormalities of the skull, face and brain due to premature closure of the bones of the skull; swelling of the optic disk inside the eye; impaired vision; hearing loss; a beak-shaped nose, an underdeveloped lower jaw; and/or a high arched palate. (For more information on this disorder, choose "Crouzon Disease" as your search term in the Rare Disease Database). Pfeiffer Syndrome is a rare disorder inherited as an autosomal dominant genetic trait. This disorder is characterized by a short, pointed head (acrobrachycephaly) and abnormalities of the face, jaws and teeth. Webbed fingers or toes (syndactyly) and other abnormalities of the thumbs and big toes may also occur. Symptoms can vary from mild to severe. (For more information on this disorder, choose "Pfeiffer Syndrome" as your search term in the Rare Disease Database). Saethre-Chotzen Syndrome is a rare disorder thought to be inherited as an autosomal dominant genetic trait. This disorder is characterized by a small head (microcephaly), premature closure of the bones of the skull (crainiosynostosis), mildly fused webbed fingers and/or toes (syndactyly), and facial abnormalities. (For more information on this disorder choose "Saethre-Chotzen Syndrome" as your search term in the Rare Disease Database. Therapies: Standard When multiple premature closures of the skull are present, surgery may be performed to prevent pressure and possible brain damage. Surgery may also be performed for cosmetic reasons. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Primary Craniosynostosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203)-746-6518 National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (800) 535-1632 About Face 99 Crowns Lane Toronto, Ontario M5R 3PA Canada (416) 944-3223 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 278-9, 1303-3. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 464. NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman, M.D., Editor: W.B. Saunders Company, 1992. Pp. 1490-91. A POPULATION-BASED STUDY OF CRANIOSYNOSTOSIS: L.R. French, et al.; J Clin Epidemiol (1990, issue 43(1)). Pp. 69-73. CRANIOSYNOSTOSIS: AN ANALYSIS OF THE TIMING, TREATMENT, AND COMPLICATIONS IN 164 CONSECUTIVE PATIENTS: L.A. Whitaker, et al.; Plast Reconstr Surg (August, 1987, issue 80(2)). Pp. 195-212. Craniosynostosis, Primary (pagetitle 932: Craniosynostosis, Primary 03632.TXT $Copyright (C) 1984, 1985, 1987, 1988, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 33: Creutzfeldt-Jakob Disease _________________________ ** IMPORTANT ** It and is possible that the main title of the article (Creutzfeldt-Jakob Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Spastic Pseudosclerosis Jakob-Creutzfeldt disease Corticostriatal-spinal degeneration CJD Subacute Spongiform Encephalopathy Information on the following diseases can be found in the Related Disorders section of this report: Alzheimer's Disease General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Creutzfeldt-Jakob Disease is a rare disorder that is characterized by the progressive degeneration of the central nervous system (spongiform encephalopathy) and by neuromuscular disturbances. This disease is thought to be transmissible in the form of an infectious particle known as a prion. Creutzfeldt-Jakob Disease generally occurs in middle life. Symptoms The early stages of Creutzfeldt-Jakob Disease are characterized by memory failures and behavioral changes. The patient may have difficulty in concentrating, a lack of coordination and visual disturbances. Sudden involuntary spasms of muscles (myoclonus) may occur. The toes may contract in response to the irritation of the bottom of the foot (extensor plantar reflexes) and there may be increased reflex reactions (hyperreflexia). Creutzfeldt-Jakob Disease progresses to pronounced mental deterioration, weakness on one side of the body (hemiparesis) and sensory disturbances. There is a progressive wasting away of muscles (muscular atrophy). Patients generally cease speaking (mutism) and movement becomes very slow or absent (akinesia). Seizures and semi-coma may ensue. Death generally occurs within a year, and may take place after only a few months. This disease can produce characteristic changes in the electroence (EEG) which is a test for brain wave activity. Computerized tomography (CT scan) can demonstrate a deterioration of brain tissue. Causes Creutzfeldt-Jakob Disease is believed to be caused by a small infectious particle called a prion (protein infectious agent). The mode of transmission is not completely understood. About 10 percent of reported cases run in families. It has been suggested that prolonged therapy during the 1970's with pituitary-derived human growth hormone (HGH) may have been a risk factor for the development of Creutzfeldt-Jakob Disease. Further studies are required to demonstrate this relationship and to attempt to define the duration of HGH therapy that increased the risk of this disease. Today human growth hormone is manufactured through biotechnology engineering (r-hGH) so transmission of the Creutzfeldt-Jakob prion is no longer a risk with these recombinant products. Affected Population Creutzfeldt-Jakob Disease affects both males and females. The disease occurs most frequently around the age of 55 to 59. Incidence of the disease is very low in the general population, but the exact prevalence is unknown. Related Disorders Symptoms of the following disorder can be similar to those of Creutzfeldt-Jakob Disease. Comparison may be useful for a differential diagnosis: Alzheimer's Disease is a common progressive condition of the brain affecting memory, thought and language. The degenerative changes lead to the formation of plaques or patches within the brain and the loss of cholinergic neurotransmitter function. The early behavioral changes may be barely noticeable, but as the disease progresses memory losses increase and there are personality, mood and behavioral changes. There may also be disturbances of judgment, concentration and speech along with confusion and restlessness. (For more information on this disorder, choose "Alzheimer's Disease" as your search term in the Rare Disease Database). Therapies: Standard The treatment of Creutzfeldt-Jakob Disease is symptomatic and supportive. Patients should be guarded against infection and given as much support as possible. Therapies: Investigational Possible drug treatments for Creutzfeldt-Jakob Disease are now being evaluated. The testing of these drugs is being conducted on rodents and primates (other than human) that have been induced with this disease. Current clinical studies include tests of anti-viral drugs such as amantadine, a compound useful in the treatment of Parkinsonism. Some patients taking these drugs have experienced brief periods of improvement, but prolonged treatment has not shown lasting benefit. Scientists are conducting biochemical analyses of brain tissue, blood, and serum from patients with Creutzfeldt-Jakob disease. To help with this research, scientists are seeking biopsy and autopsy tissue, blood and cerebrospinal fluid from patients with Creutzfeldt-Jakob and related diseases. The following investigators have expressed an interest in receiving such material: Dr. Stephen DeArmond/Dr. Stanley Prusiner Department of Pathology/Neuropathology Unit HSW 430 University of California San Francisco, CA 94143 (415) 476-5236 Dr. Clarence J. Gibbs/Dr. D. Carleton Gajdusek NIH/National Institute of Neurological Disorders & Stroke Laboratory of Central Nervous System Studies, Building 36, Room 4A-15 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4821 Dr. Elias Manuelidis Yale University School of Medicine, Section of Neuropathology 333 Cedar Street New Haven, CT 06510 (203) 785-4442 A study of early onset dementia occurring as a result of Creutzfeldt-Jakob Disease is being conducted by the National Institute of Mental Health (NIMH) and the Neuropsychiatric Research Hospital. This study includes a thorough neuropsychological evaluation, advanced brain imaging and evaluation using newly developed biochemical assay techniques. Participants in this study must be under forty-five years of age and not require special medical care. Physicians with patients who are interested should contact: Denise Juliano, MSW Coordinator of Admissions Neuropsychiatric Research Hospital 2700 Martin Luther King Jr. Ave., SE Washington, DC 20032 (202) 373-6100 An epidemiologic (affected population) study of Creutzfeldt-Jakob Disease is being conducted at Loma Linda University under the supervision of Carey G. Smoak. The project is funded by the National Institutes of Health. Interested persons may call or write: Creutzfeldt-Jakob Disease Study Department of Neurology, Rm. 1580 School of Medicine Loma Linda University Loma Linda, CA 92350 (714) 799-2146 This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Creutzfeldt-Jakob Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Alzheimer's Disease and Related Disorders Association National Headquarters 70 E. Lake Street Chicago, Illinois 60601 (312) 853-3060 (708) 330-0230 (800) 621-0379 (In Illinois) (800) 572-6037 (out of state) NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For more information about long-term care facilities: National Hospice Organization 1901 N. Fort Myer Drive, Suite 902 Arlington, VA 22209 (703) 243-5900 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 281-282, 927-929. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2191-2193. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 609-611. HUMAN GROWTH HORMONE AND CREUTZFELDT-JAKOB DISEASE, S. Zekauskas; J Okla State Med Assoc (Sept 1990; 83(9)): Pp. 447-448. CREUTZFELDT-JAKOB DISEASE IN PITUITARY GROWTH HORMONE RECIPIENTS IN THE UNITED STATES, R. Thomson; JAMA (Feb. 1991; 20(265)): Pp. 880-884. MOLECULAR BIOLOGY OF PRION DISEASES, S.B. Prusiner; Science (June 1991; 252(5012)): Pp. 1515-1522.15-1522. Creutzfeldt-Jakob Disease PreM% P%pagetitle 33: Creutzfeldt-Jakob Disease 03633.TXT Copyright (C) 1984, 1985, 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 19: Cri du Chat Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cri du Chat Syndrome) was not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms 5p-Syndrome Partial Deletion of the Short Arm of Chromosome Number 5 Syndrome Cat's Cry Syndrome Chromosome 5p-Syndrome Le Jeune Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cri du Chat Syndrome is characterized in infants by a very distinctive high, shrill, mewing, kitten-like cry that fades in later infancy. Other symptoms are also present including distinct facial features. Symptoms The characteristic cry of Cri Du Chat syndrome is present during the first weeks of life. Birth weight is usually low, and growth is slow. Almost all infants with Cri Du Chat Syndrome have an abnormally small head (microcephalic) and mental retardation. An infant with this disorder generally has a round face with unusually wide-set eyes (hypertelorism), and excess skin over the inner corners of the eyes (epicanthal folds). Other symptoms of Cri du Chat syndrome may include eyes that are either crossed or looking away (strabismus), low-set and/or malformed ears, a small chin, a prominent nose, and facial features that are not balanced side to side (asymmetry). A single crease across the palms of the hands (Simian creases) is common. Over three-quarters of these infants have signs of weakness and poor muscle tone (hypotonia). As the infants grow older this is generally replaced with an exaggeration of muscular reflexes (hyperreflexia). A few patients with Cri Du Chat Syndrome are nearsightedness (myopia). Some infants with Cri Du Chat Syndrome may have a split in the front of the upper lip (cleft lip), an abnormal opening in the roof of the mouth (cleft palate), or an abnormal opening or fissure in the back of the mouth (bifid uvula). In some patients, one side of the spinal column may be incompletely developed (hemivertebra). Other infants may have a tear in the supportive tissue of the lower abdomen (inguinal hernia). In male infants with Cri Du Chat syndrome the testes may fail to descend into the scrotum (cryptochidism). Other infrequent symptoms include the absence of a kidney and/or the spleen, a clubfoot, and flat feet. Seven of 13 adults in one study had a curvature of the spinal column (scoliosis) and 11 patients had short bones in the hands (metacarpals) and feet (metatarsals). Causes Cri Du Chat Syndrome is caused by a partial deletion of the short arm of chromosome 5. The more pronounced the deletion is, the more severe the effect on intelligence, height and weight. Affected Population Cri du Chat Syndrome was first described in 1963; since then over 100 cases have been reported. It has been estimated that the syndrome occurs in about 1:50,000 births and accounts for approximately 1 percent of institutionalized mentally retarded patients. Therapies: Standard Treatment for Cri du Chat Syndrome is symptomatic and supportive. Physical therapy, special education and related services may be of benefit to children. Surgery may be performed to correct an eye that is either crossed or looking away (strabismus) and this may offer some cosmetic improvement. An orthopedist should be consulted for curvature of the spine (scoliosis) and deformities of the feet. A series of surgeries may correct a cleft lip and palate. Speech therapy may be necessary in some cases. Early preventive dental treatment in an aggressive manner is very important; the dentist must be informed that the patient has Cri du Chat Syndrome. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Research and studies of Cri du Chat Syndrome are ongoing. One study has shown that early special schooling, a home environment (rather than an institutional one), and family support may help the patient achieve the abilities of a normal five or six year old. In the same study half the children over ten who had undergone special schooling and lived in a supportive home environment, were able to communicate adequately. Scientific techniques in determining chromosomal abnormalities are becoming more and more refined. This means diagnostic techniques have improved and in certain instances prenatal diagnosis of Cri du Chat Syndrome is possible. Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cri du Chat Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Cri du Chat Society Department of Human Genetics Medical College of Virginia Box 33 MCV Station Richmond, VA 23298 (804) 786-9632 5p-Society 11609 Oakmont Overland Park, KS 66210 (913) 469-8900 Chromosome Deletion Outreach P.O. Box 164 Holtsville, NY 11742 (516) 736-6754 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301)496 5133 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914)-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.: Kenneth L. Jones, M.D., Editor; W. B. Saunders Co., 1988. Pp. 40-41. NELSON TEXTBOOK OF PEDIATRICS, 14TH Ed.; Richard E. Behrman, Editors; W.B. Saunders Company, 1991. Pp. 287-288. CONFIRMATION OF A BALANCED CHROMOSOMAL TRANSLOCATION USING MOLECULAR TECHNIQUES. R. D. Smart, et al.; Prenat Diagn (Jul 1989; issue 9 (7)). Pp. 505-513. CRI DU CHAT SYNDROME: DENTAL CONSIDERATIONS AND REPORT OF CASE, R A. Boraz; Spec Care Dentist (Jan-Feb 1990; issue 10 (1)): Pp. 13-15. 5p;12q TRANSLOCATION WITH MANIFESTATIONS OF CRI DU CHAT SYNDROME AND MARFANOID ARACHNODACTYLY, S.Z. Zhang, et al.; Clin Genet (Feb 1990; issue 37 (2)): Pp. 153-157. MOLECULAR ANALYSIS OF A CASE OF MEIOTIC RECOMBINATION LEADING TO CRI DU CHAT SYNDROME, M. Dobbs, et al.; Cytogenet Cell Genet (1988; issue 47 (1-2)): Pp. 5-7. Cri du Chat Syndrome pagetitle 19: Cri du Chat Syndrome 03634.TXT ACopyright (C) 1876, 1988, 1990, 1991, 1993 National Organization for Rare Disorders, Inc. 58: Crohn's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Crohn's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Regional Enteritis Ileitis Granulomatous Colitis CD Disorder Subdivisions: Granulomatous Ileitis Ileocolitis Gastritis Jejunitis Jejunoileitis Enterocolitis Duodenitis Information on the following diseases can be found in the Related Disorders section of this report: Ulcerative Colitis Primary Sclerosing Choloangitis Chronic Erosive Gastritis Glucose-Galactose Malabsorption Irritable Bowel Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Crohn's Disease is an inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract. The lower portion of the small intestine (ileum) and the rectum are most commonly affected by this disorder. The symptoms of Crohn's Disease can be difficult to manage and diagnosis is often delayed. Symptoms Crohn's Disease typically affects the lower portion of the small intestine (ileum) and/or the colon, especially the right colon. Occasionally, inflammation may occur in the middle and lower portions of the small intestine (jeunoileitis). In some cases, there is inflammation of the membranes that line the mouth (mucous), the esophagus, and/or stomach. The symptoms of Crohn's Disease may begin abruptly or appear slowly over a long period of time. Symptoms that may develop over time include nausea, vomiting, fever, night sweats, loss of appetite, a general feeling of weakness (malaise), waves of abdominal pain and discomfort, diarrhea and/or bleeding from the rectum. Weight loss is common in people with Crohn's Disease. Acute attacks of Crohn's Disease may cause fever, elevated white blood cells counts, and/or severe pain in the lower right abdomen. These symptoms are frequently confused with appendicitis. Crohn's Disease may cause lesions (pathological changes) in the intestinal wall and the surrounding lymph nodes. Abscesses in the anorectal area may occur before the appearance of other symptoms. Grooves on the inner surface of the intestines (fissures) may also occur. These may feel like a solid mass in the abdomen and when the mucosal lining of the intestines becomes thickened, it may feel like cobblestones. Deep open abscesses (fistulas), scarring, and some degree of intestinal obstruction may occur as a result of chronic inflammation of the intestine. In some cases, fistulas and abscesses may create an opening through the intestinal wall and result in infection by the bacteria that occur naturally in the intestines (septicemia). Massive, abnormal enlargement of the colon (toxic megacolon) is a serious complication of Crohn's Disease and may result in intestinal bleeding into the abdomen and septicemia. When Crohn's Disease causes intestinal obstruction, the symptoms may include pain, constipation, swelling of the abdomen, and/or vomiting. This may be due to the accumulation of fluid (edema) in the intestines or thickening of the muscosal layers of the intestinal walls. Inflammation and obstruction may occur together and can impair digestion and the absorption of food and may lead to malnutrition. Crohn's Disease rarely occurs in children, and is characterized by failure to thrive, fever, and/or abnormally low levels of hemoglobin in the blood (anemia). Children may also experience joint pain and stiffness (arthritis). Sexual development is often delayed. Initially, children with Crohn's Disease may not experience diarrhea or abdominal pain. People with Crohn's Disease may have anemia, abnormally low levels of albumin in the blood (hypoalbuminism), abnormally high white blood cell counts, and/or a deficiency of vitamin B-12. Other laboratory findings may include abnormally low blood levels of sodium, potassium, calcium, and/or magnesium. Crohn's Disease may also have symptoms that are not related to intestinal dysfunction. These may include joint pain, or skin and eye problems. A fatty like substance (amyloid) may accumulate in various parts of the body. Blood circulation may be impaired by abnormally thick blood, dehydration, and/or lack of movement or exercise. In some cases, arthritis may occur resulting in swollen and painful joints. In rare cases of Crohn's Disease, liver function may be impaired. These complications may include a fatty liver, inflammation of the liver and the bile ducts, chronic hepatitis, and/or cirrhosis. Kidney stones may also occur. The diagnosis of Crohn's Disease may be difficult because of the wide range of symptoms. Diagnosis may be made by a variety of procedures including x-rays, the examination of the colon with special instruments (sigmoidoscopy), and fiber-optic examination of the colon (colonoscopy). Causes The exact cause of Crohn's Disease is unknown. The clustering of this disease within some families may suggest a genetic or environmental influence. Scientists believe 10 to 30 percent of Crohn's Disease patients may have inherited the disorder, but its genetic inheritance pattern is still unknown. A study on Crohn's Disease and Ulcerative Colitis (Denmark, 1991) suggested that relatives of people with either of these diseases are at an increased risk for developing the disease. The risk factor may be as great as a ten fold increase. The study also suggested that Crohn's Disease and Ulcerative Colitis may be inherited. Some of the complications of Crohn's Disease suggest that immunological agents may be responsible in part for the disease. Other research suggests that infectious agents may play a role in causing Crohn's Disease. Recent studies have suggested that emotional conditions do not cause this disease, although the psychological effects of the disease are recognized. Affected Population Crohn's Disease affects males and females in equal numbers. People of Jewish ancestry are affected by this disorder 3 to 6 times more frequently than others. Crohn's Disease typically affects people between the ages of 15 to 55 years. This disorder may also occur in young children and the elderly. Twenty-five percent of people with Crohn's Disease are likely to have a relative with either Crohn's disease or Ulcerative Colitis. Related Disorders Symptoms of the following disorders can be similar to those of Crohn's Disease. Comparisons may be useful for a differential diagnosis: Ulcerative Colitis is an acute inflammatory bowel disease characterized by diarrhea and blood in the stools because of multiple, irregular ulcerations of the bowel. The initial symptoms of this disorder may include a general feeling of weakness (malaise) and fatigue. There may be abdominal discomfort, along with a change in the frequency and consistency of stools. Other symptoms may include abdominal pain, cramping, and urgency (tenesmus). Weight loss and a decrease in appetite are also associated with Ulcerative Colitis. (For more information on this disorder, choose "Ulcerative Colitis" as your search term in the Rare Disease Database.) Primary Sclerosing Cholangitis is a rare collagen disorder involving inflammation and blockage of the bile duct, liver ducts, and gallbladder. Symptoms of this disorder include abdominal pain, loss of appetite, nausea, vomiting, and/or weight loss. Later symptoms may include a yellow discoloration to the skin (jaundice), fever, chills, and/or itching of the skin. Bacterial infections resulting from Ulcerative Colitis, Crohn's Disease, and/or Vasculitis may be associated with bile duct blockages of Primary Sclerosing Cholangitis. (For more information on this disorder, choose "Primary Sclerosing Cholangitis" as your search term in the Rare Disease Database.) Chronic Erosive Gastritis is an inflammatory disorder characterized by multiple lesions in the mucosal lining of the stomach. Symptoms of this disorder may include a burning or heavy feeling in the stomach, mild nausea, vomiting, loss of appetite and general weakness. In severe cases of Chronic Erosive Gastritis there may be bleeding from the stomach that can result in anemia. (For more information on this disorder, choose "Chronic Erosive Gastritis" as your search term in the Rare Disease Database.) Glucose-Galactose Malabsorption (carbohydrate intolerance) is a rare inherited disorder characterized by the inability of the small intestine to transport and absorb glucose and galactose. The symptoms of this disorder in children may include diarrhea, dehydration, and failure to gain weight. In adults, symptoms of this disorder may include bloating, nausea, diarrhea, abdominal cramps, rumbling sounds caused by gas in the intestine (borborygmi), and/or excessive urination. (For more information on this disorder, choose "Glucose-Galactose Malabsorption" as your search term in the Rare Disease Database.) Irritable Bowel Syndrome, also known as Spastic Colon, is a common digestive disorder that involves both the small intestine and the large bowel. This disorder is characterized by abdominal pain, constipation, bloating, nausea, headache, and/or diarrhea. The spastic colon type of this syndrome is characterized by variable bowel movements and abdominal pain that is associated with periodic constipation or diarrhea. Those patients with Irritable Bowel Syndrome who have painless diarrhea may experience an urgent need to defecate upon arising. (For more information on this disorder, choose "Irritable Bowel Syndrome" as your search term in the Rare Disease Database.) Other digestive diseases with similar symptoms include infectious diseases such as Yersinia Enterocolitica Infection, Amebiasis, chronic fungal bowel infections, Intestinal Tuberculosis, Pseudomembranous Colitis that is caused by excessive use of antibiotics, and certain venereal diseases. Ischemic Colitis and certain cancers such as abdominal lymphoma may also have symptoms that are similar to those of Crohn's Disease. Therapies: Standard The treatment of Crohn's disease is aimed at relieving the symptoms and to halt or slow the inflammation and destruction of the tissues. Sulfasalazine is a drug often used in the extended treatment of low grade intestinal inflammation. Acute inflammatory episodes respond to corticosteroid drugs; however, these may provoke many side effects if used over long periods of time. People with Crohn's Disease may also be treated with diphenoxylate, loperamide, opium tincture, or codeine to help relieve abdominal cramps and diarrhea. Hydrophilic mucilloids (methylcellulose or phyllium preparations) may help prevent anal irritation by increasing stool firmness. Broad spectrum antibiotics that are effective against certain bacteria may be helpful in reducing the symptoms of active Crohn's Disease but may be more beneficial for those patients who have intestinal abscesses or fistulas. Metronidazole is a drug that has been shown to be beneficial in the treatment of Crohn's Disease. This drug may reduce fever and diarrhea, and relieve abdominal pain and tenderness. Metronidazole is used primarily in patients who do not respond to Sulfasalazine. Corticosteroids may be useful in the treatment of acute stages of Crohn's Disease. These drugs (i.e., prednisone and hydrocortisone) may help improve fever and relieve diarrhea. Corticosteroids should be avoided when obvious infections are present because they impair the function of the immune system. Nutrition is an important consideration for people with Crohn's Disease, especially in children and when obstructions and fistulas are present. Vitamins, particularly B-12, and minerals must be added to the daily diet. In cases of Crohn's Disease where there is impairment in the ability to digest fats, people should maintain a low fat diet. A medically prescribed liquid diet (elemental supplementation) may be useful when eating is difficult. The ingestion of greater than normal amounts of food (hyperalimentation) may help prepare patients for surgery, and to supplement their diets after surgery. Certain people with Crohn's Disease may be considered for surgery. These include those who have not received any relief for their symptoms (intractable disease) through the use of pharmaceuticals, and cases of intestinal obstruction such as fistula and/or abscess. This disease recurs in approximately 50 percent of cases after five years. In half the cases that recur, further surgery is eventually required. Immunosuppressive drugs such as metronidazole, azathioprine, and 6-mercaptopurine are also used to treat Crohn's Disease, especially when the disease is limited to the colon. Frequently these drugs to not produce an improvement of symptoms for 3 to 6 months. These drugs, when used along with metronidazole, may promote the closure of fissures in patients with Crohn's Disease. Therapies: Investigational Studies are being conducted in the use of gammaglobulin as a treatment for Crohn's Disease. Further investigation is needed to determine the long-term safety and effectiveness of this treatment. In 1990 Dr. Sally Schuette of the University of Chicago, Chicago, IL, is studying Mg Diglycin Chelate in Crohn's patients. Dr. Walter Raymond Thayer of Rhode Island Hospital, Providence, RI, is studying Rifabutin and Streptomycin in severe Crohn's Disease. Cyclosporine (Sandimmune) and methotrexate are also being investigated for use in the treatment of Crohn's Disease, especially in those people who do not respond to other therapies. These are immunosuppressive drugs that are normally used by organ transplant patients. Further study is required to determine the safety and long term effectiveness of these treatments. This disease entry is based upon medical information available through May 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Crohn's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Crohn's and Colitis Foundation of America, Inc. 444 Park Ave. South New York, NY 10016 (212) 685-3440 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 United Ostomy Association, Inc. 36 Executive Park, Suite 120 Irvine, CA 97214 (714) 660-8624 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914)-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1675. GASTROINTESTINAL DISEASE, 4TH ED.: Marvin H. Sleisenger and John S. Fordtran Editors; W.B. Saunders Co., 1989. Pp. 1327-1358. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 702-708. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 830-832. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 970-972. FAMILIAL OCCURRENCE OF INFLAMMATORY BOWEL DISEASE, M. Orholm, MD, N Eng J Med (January 10, 1991, issue 324 (2)). Pp. 84-88. DRUG THERAPY FOR INFLAMMATORY BOWEL DISEASE: PART II. F.V. Linn; Am J Surg (Aug 1992; 164(2)). Pp. 178-185. MEDICAL TREATMENT OF INFLAMMATORY BOWEL DISEASE. F. Shannon; Annu Rev Med (1992:43). Pp. 125-33. USE OF AZATHIOPRINE OR 6-MERCAPTOPURINE IN THE TREATMENT OF CROHN'S DISEASE. J.J. O'Brien; Gastroenterology (July 1991: 101(1)). Pp. 39-46. Crohn's Disease Cpagetitle 58: Crohn's Disease 03635.TXT Copyright (C) 1986, 1987 National Organization for Rare Disorders, Inc. 154: Cronkhite-Canada Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cronkhite-Canada Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Gastrointestinal Polyposis with Ectodermal Changes Canada-Cronkhite Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Cronkhite-Canada Disease is characterized by multiple, benign growths (polyps) on the mucosal lining of the intestinal wall, especially in the colon, rectum, and stomach, and by changes in ectodermal structures, i.e., hair, skin, fingernails, etc. The disease does not appear to be hereditary. It is possible that the ectodermal changes result from malabsorption of essential vitamins. Women are affected more often and more severely than men, and most patients are elderly. The disorder can cause malnutrition and sometimes life-threatening metabolic disturbances. Symptoms Cronkhite-Canada Disease appears in middle aged or elderly persons. The numerous polyps are found primarily in the stomach and large intestine, although they also occur in the small intestine. Patients experience diarrhea, abdominal pain, loss of appetite, and sometimes nausea or vomiting. Changes in skin and related structures accompany these symptoms. Body hair may fall out, the skin becomes brownish on the face, neck, and hands, and the toe and fingernails atrophy. There may be swelling in the ankles, lower back and pelvis. The changes in the lining of the intestinal tract can impair absorption of nutrients and laboratory tests show reduced protein levels in the blood, electrolyte (salt) imbalances, anemia, and the presence of undigested proteins and fats in the stool. Thus, the patient may become gradually weaker and more susceptible to infections, etc. Causes Cronkhite-Canada Disease does not seem to be a hereditary disease. Its causes are unknown. Vitamin deficiencies due to malabsorption may cause the changes in ectodermal structures. Affected Population Cronkhite-Canada Disease affects primarily elderly or middle aged women. Related Disorders Cronkhite-Canada Disease is related to several syndromes in which intestinal polyposis plays a role. Familial Adenomatous Colon Polyposis is characterized by numerous polyps in the large intestine and a high incidence of colonic cancer by age 40 if untreated. In Gardner Syndrome, colonic polyposis is associated with cysts and tumors in the skull and related structures, and extra teeth. In Peutz-Jeghers Syndrome, numerous polyps in the stomach and small and large intestines are associated with discoloration of the skin and mucous surfaces. In Turcot Syndrome, familial polyposis occurs with tumors in the central nervous system. Therapies: Standard Surgical removal of polyps may correct malabsorption in Cronkhite-Canada Disease. However, they may recur or be too numerous to remove individually. If necessary, severely affected parts of the stomach or colon can be removed. Therapies: Investigational This disease entry is based upon medical information available through December 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cronkhite-Canada Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 768. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 739. Cronkhite-Canada Disease pagetitle 154: Cronkhite-Canada Disease 03636.TXT @!7!Copyright (C) 1987, 1990, 1992 National Organization for Rare Disorders, Inc. 419: Crouzon Disease _________________________ ** IMPORTANT ** It is possible the main title of the article (Crouzon Disease) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and relate disorders covered by this article. Synonyms Craniofacial Dysostosis Craniostenosis Crouzon Craniofacial Dysostosis Acrocephalosyndactyly II Apert-Crouzon Disease Oxycephaly-Acrocephaly Virchow's Oxycephaly Vogt's Cephalosyndactyly Information on the following diseases can be found in the Related Disorders section of this report: Apert Syndrome Saethre-Chotzen Syndrome Carpenter Syndrome Craniosynostosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Crouzon Disease is a genetic disorder characterized by abnormalities in the skull, face, and brain caused by premature hardening of the skull. The skull is made up of several bony plates initially joined by fibrous connective tissue which normally fuse together and harden over a period of several years after growth of the brain. Facial deformities are often present at birth and may progress with time. Vision disturbances and deafness can develop in some cases. With treatment, pressure inside the skull may be relieved and major symptoms may improve. Symptoms In Crouzon Disease ocular symptoms may include an unusually wide distance between the eyes, a condition in which the eyes do not look in the same direction (strabismus), and protrusion of the eyeballs. Swelling of the optic disk inside the eye and optic atrophy may develop. Impaired vision and/or hearing loss may be present in some cases. The nose may be beak-shaped and can have a defect in the dividing cartilage (deviated septum). The upper jaw may be underdeveloped, the upper lip shortened, and the lower lip and tongue tend to protrude. The head may be pointed, the forehead widened, and in some cases the roof of the mouth (palate) may be high, arched or shortened. Dental malformations may also occur. Without early treatment, increased pressure in the skull may cause headaches, vomiting and/or convulsions. Facial features may continue to change with time. In severe cases, mental impairment may develop as a consequence of increased pressure on the brain and cranial nerves. Causes Crouzon Disease is inherited as an autosomal dominant trait. Symptoms are caused by premature fusion or closure of the fibrous or "soft" parts of the skull. When this happens, the brain and face may not be able to grow normally. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Crouzon Disease affects males and females in equal numbers. Onset occurs before birth. It is a very rare craniofacial disorder. Related Disorders Symptoms of the following disorders can be similar to Crouzon Disease. Comparisons may be useful for a differential diagnosis: Apert Syndrome, also known as Acrocephalosyndactyly Type I, is characterized by fused or webbed fingers and toes (syndactyly), a pointed head, other skeletal and facial abnormalities, and mental retardation. It is inherited as an autosomal dominant trait. Symptoms are present at birth. (For more information on Apert Syndrome, choose "Apert" as your search term in the Rare Disease Database). Saethre-Chotzen Syndrome, also known as Acrocephalosyndactyly Type III, is a hereditary disorder involving various craniofacial and skeletal malformations with abnormalities of the skin on the toes and fingers. Short stature, and in some cases mild to moderate mental retardation may also occur. Facial characteristics may improve with time. (For more information on Saethre-Chotzen Syndrome, choose "Saethre-Chotzen" as your search term in the Rare Disease Database). Carpenter Syndrome, also known as Acrocephalopolysyndactyly, is characterized by skeletal and skin abnormalities present at birth. Major symptoms may include a pointed head, abnormal shortness of fingers with webbing between them, and the presence of more than five toes on each foot. This disorder may sometimes be associated with mental retardation. Craniosynostosis is a bone growth abnormality caused by premature fusion or closure of the fibrous or "soft" parts of the skull. When this happens, the brain and face may not be able to grow normally. Craniosynostosis can be associated with a variety of genetic syndromes such as Crouzon Disease, or it can occur sporadically. Therapies: Standard Treatment of Crouzon Disease involves surgery to relieve pressure inside the skull. This can be done by separating the bony sections and lining the seams between them with polyethylene or other materials to prevent fusion. Various other craniofacial reconstructive procedures may benefit patients allowing them to lead a normal life. Medication, corrective eye glasses, or eye surgery may help to correct various vision disturbances. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers at Johns Hopkins Hospital are trying to determine the genes responsible for craniofacial disorders. Physicians may contact Drs. Amy Feldman Lewanda or Ethylin Wang Jabs at: CMSC 10, Johns Hopkins Hospital, Baltimore, MD, 21205, (301) 955-0484. This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Crouzon disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Forward Face 560 First Ave. New York, NY 10016 (212) 263-5205 (800) 422-FACE Meniere Crouzon Syndrome Support Network 2375 Valentine Dr., #9 Prescott, AZ 86303 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 Society For the Rehabilitation of the Facially Disfigured, Inc. 550 First Avenue New York, NY 10016 (212) 340-5400 About Face 99 Crowns Lane Toronto, Ontario M6R 3PA Canada (416) 944-3223 Let's Face It Box 711 Concord, MA 01742 (508) 371-3186 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References DEVELOPMENTAL ABNORMALITIES: A.B. Baker and Robert J. Joynt; In: Clinical Neurology. Harper & Row, Publishers. 1986, Revised Edition. Pp. 71-74. PREMATURE CLOSURE OF THE CRANIAL SUTURES: Lewis P. Roland and Charles Kennedy; In: Merritt's Textbook of Neurology. Lea & Febiger. 1984, 7th Edition. Pp. 376-379. THREE-DIMENSIONAL CAT SCAN RECONSTRUCTION--PEDIATRIC PATIENTS: K.E. Salyer, et al.; Clin Plast Surg (July 1986, issue 13(3)). 463-474. Crouzon Disease NC" F"pagetitle 419: Crouzon Disease 03637.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 910: Cryoglobulinemia, Essential Mixed _________________________ ** IMPORTANT ** It is possible that the main title of the article (Essential Mixed Cryoglobulinemia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Information on the following diseases can be found in the Related Disorders section of this report: Raynaud's Disease and Phenomenon Purpura Vasculitis Wegener's Granulomatosis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Essential Mixed Cryoglobulinemia is a rare autoimmune disorder that affects the blood and various other body systems. Major symptoms may include unusual response to cold, skin abnormalities, weakness and blood problems. There may also be joint pain, inflamed blood vessels and kidney problems. Symptoms Essential Mixed Cryoglobulinemia is characterized by extreme physical reactions to cold such as loss of feeling in the hands or feet. In people with this disorder, blood becomes thicker when they are is exposed to cold. Brown spots may appear under the skin. The kidneys may become inflamed and produce unusual levels of protein or even blood in the urine. There may also be arthritis type joint pain, weakness and even central nervous system problems. Gastrointestinal symptoms usually occur and the liver and spleen may be affected. Problems in the intestines and colon may cause chronic diarrhea. Causes The exact cause of Essential Mixed Cryoglobulinemia is not known. However, it is considered to be an autoimmune disorder. (Autoimmune disorders are caused when the body's natural defenses such as antibodies, lymphocytes, etc.) against invading organisms mistakenly attack healthy tissue. In this condition the immune system appears to be triggered by cold temperatures. Cryoglobulins are proteins in the blood that become apparent when the blood is cooled. These Cryoglobulins can affect many different bodily systems causing dysfunction. Affected Population Essential Mixed Cryoglobulinemia is a rare autoimmune disorder that can affect many body functions; however, it is usually not apparent until middle age and it affects females more often than males. Related Disorders Symptoms of the following disorders can be similar to those of Essential Mixed Cryoglobulinemia. Comparisons may be useful for a differential diagnosis: Raynaud's Disease and Phenomenon are vascular disorders. They are caused by spasms of blood vessels when a person is exposed to either hot or cold temperatures. Symptoms occur more often in cold temperatures than in hot weather, and can also be triggered by emotional upset. Patients may experience sensory changes such as aching pain, a tingling feeling or throbbing in fingers or toes when exposed to extreme temperatures. There may be the sensation of tightness or pins and needles. The feeling of coldness or numbness and a loss of color or turning blue may also occur. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database). Purpura means a red or purple color of the skin. It results from the fusion of blood and plasma into surfaces under the skin, mucous membranes and serous membranes. Purpura is the most common symptom of a vascular bleeding disorder which is characterized by increased bruising and fragile blood vessels. It can be caused by inflammation of the blood vessels affecting the skin, joints, gastrointestinal system and kidneys. (For more information on this disorder, choose "Purpura" as your search term in the Rare Disease Database). Vasculitis is a common disorder characterized by an inflammation of the blood vessel walls. Arteries and veins of all sizes and in all parts of the body may be affected. Depending on the system involved there may be muscle pain, joint pain, fever, weight loss, loss of appetite, headache, or generalized weakness. The skin, eyes, stomach and kidneys may be affected. (For more information on this disorder, choose "Vasculitis" as your search term in the Rare Disease Database). Wegener's Granulomatosis is a rare collagen vascular disorder that begins as a localized inflammation of the mucous membranes in the upper and lower respiratory tract and usually progresses into generalized inflammation of the blood vessels and kidneys. (For more information on this disorder, choose "Wegener" as your search term in the Rare Disease Database). Therapies: Standard Protecting the patient from cold temperatures is a necessary preventive measure for people with Essential Mixed Cryoglobulinemia. Treatment of Essential Mixed Cryoglobulinemia usually consists of combinations of drugs including steroids and cyclophosphamide. These drugs can alter the immune system and alleviate symptoms in many cases. Plasmapheresis is a procedure used for removing unwanted substances such as toxins and plasma parts from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is transfused back into the patient. Cryoblobulins can be removed from the patient's blood by cooling the blood serum during Plasmapheresis. Cryofiltration is another form of treatment that can remove the cryoblobulins from the blood without the need of plasma replacement. Therapies: Investigational This disease entry is based upon medical information available through May 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Essential Mixed Cryoglobulinemia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203 746-6518 NIH/National Heart, Lung and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301)496-4236 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. P. 601. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. P. 1437. THE KIDNEY, 4th Ed.; Barry M. Brenner, M.D. and Floyd C. Rector, Jr., M.D., Editors; W.B. Saunders Company, 1991. Pp. 1311-1312. CHRONIC DIARRHEA IN ESSENTIAL MIXED CRYOGLOBULINEMIA: A MANIFESTATION OF VISCERAL VASCULITIS?, Jones, MP., et al.; Am J Gastroenterol, April, 1991, (issue 86 (4)). Pp. 522-524. RAPID IMPROVEMENT IN A PATIENT WITH LEUKOCYTOCLASTIC VASCULITIS WITH SECONDARY MIXED CRYOGLOBULINEMIA TREATED WITH CRYOFILTRATION., Sawada, K., et al.; J Rheumatol, January, 1991, (issue (1)). Pp. 91-94. Cryoglobulinemia, Essential Mixed pagetitle 910: Cryoglobulinemia, Essential Mixed 03638.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 384: Cryptococcosis _________________________ ** IMPORTANT ** It is possible the main title of the article (Cryptococcosis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Cryptococcic Meningitis Cryptococcosis Skin Cryptococcosis Lung European Blastomycosis Torulosis Torular Meningitis Busse-Buschke Disease Information on the following diseases can be found in the Related Disorders section of this report: Meningitis Blastomycosis Toxoplasmosis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cryptococcosis is caused by a fungus known as Filobasidiella Neoformans or Cryptococcosis Neoformans. The infection can be spread to humans through contact with pigeon droppings or unwashed raw fruit. Contact with an infected individual may also spread the infection. Persons with disorders characterized by lowered immunity are at high risk to contract these infections. Cryptococcosis can appear in various forms depending on how the infection is acquired. The prognosis is generally favorable for persons who receive prompt treatment when the symptoms become noticeable. Meningitis can occur as a serious complication. In some cases, this infection can be fatal if left untreated. Symptoms Cryptococcosis can affect various areas of the body, usually depending on how the fungal infection is acquired. Infection acquired via the respiratory route is the most common form of this disorder. Initially involving the lungs, it may later spread to the kidneys, bones and skin. When the central nervous system is involved, symptoms may include blurred vision, severe headaches, dizziness, loss of muscle coordination (ataxia), vomiting, ringing in the ears (tinnitus), memory disturbance and convulsions. The intestinal tract, kidneys, liver or spleen may be affected in some cases. In other forms of Cryptococcosis, symptoms can be limited to the lungs, or on the skin it may resemble acne. In some cases, relapses may occur if therapy is not continued for long periods of time. This occurs in approximately fifteen percent of cases. Causes Cryptococcosis is caused by a fungus known as Filobasidiella Neoformans or Cryptococcus Neoformans. It is spread by contact with pigeon droppings, unwashed raw fruit or by infected individuals. People with immune deficiencies or lowered immunity (such as people undergoing cancer chemotherapy or organ transplants) are at high risk for contracting this fungal infection. Affected Population Cryptococcosis occurs worldwide. In the United States it occurs predominately in the Southeastern states and usually in adults aged forty to sixty years of age. It tends to occur more often in males than females. Individuals with disorders involving reduced or impaired immunity to infection are particularly at risk. Related Disorders Meningitis is a possible complication of Cryptococcosis. Meningitis is an inflammation of the membranes surrounding the brain and spinal cord. There are many types of Meningitis, caused by many different infectious agents with the severity of infection ranging from mild to severe. Blastomycosis is a fungal disease involving the lungs, sometimes the skin and other organs. It occurs primarily in the southeastern and Mississippi Valley areas of the United States. However, it has also been found in the north central part of the U.S., Canada, and in parts of Africa. Frequent contact with soil appears to be associated with the disease. It affects men far more frequently than women. Untreated Blastomycosis may be progressively fatal within several months, but appropriate treatment can be very effective. (For more information on this disorder, choose "Blastomycosis" as your search term in the Rare Disease Database). Toxoplasmosis is an infectious disease that can be caused by contact with a microscopic parasitic organism called Toxoplasma gondii. This parasitic infection, found worldwide, can be either acquired or present at birth. The congenital type is a result of a maternal infection during pregnancy which is transmitted to the fetus, and involves lesions of the central nervous system. These lesions may lead to blindness and brain dysfunction. The disorder may be most severe when it is transmitted to the fetus during the second through the sixth month of pregnancy. Only 20% to 80% of those affected will show the presence of toxoplasmosis antibodies when tested. (For more information on this disorder, choose "Toxoplasmosis" as your search term in the Rare Disease Database). Therapies: Standard Antibiotics are used to treat Cryptococcosis including Amphotericin B and Flucytosine, alone or in combination. These should be monitored carefully by a physician to avoid side effects. Other possible drugs include Miconazole and Ketoconazole. Individuals with lowered immunity, or under immune suppressive therapy, such as cancer chemotherapy or treatment for organ transplants who contract infections should be under prolonged drug therapy to prevent relapses. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cryptococcosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 References CRYPTOCOCCAL MENINGITIS: T.L. Tjia, et al.; J Neurol Neurosurg Psychiatry (September 1985, issue 48(9)). Pp. 853-858. CRYPTOCOCCAL MENINGITIS: R. Biniek, et al.; Nervenarzt (January 1986, issue 57(1)). Pp. 47-55. CLINICAL SPECTRUM OF INFECTIONS IN PATIENTS WITH HTLV-III-ASSOCIATED DISEASES: J.W. Gold; Cancer Res (September 1985, issue 45(9 Suppl)). Pp. 4652s-4654s. Cryptococcosis pagetitle 384: Cryptococcosis 03639.TXT @,$,Copyright (C) 1986, 1987, 1988, 1989, 1991, 1992 National Organization for Rare Disorders, Inc. 126: Cushing Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cushing's Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Cushing's Disease Ectopic ACTH Syndrome Adrenal Neoplasm Adrenal hyperfunction resulting from pituitary ACTH excess Information on the following diseases can be found in the Related Disorders section of this report: Addison's Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cushing's Syndrome consists of a group of Symptoms caused by an excess of cortisol and certain other hormones produced by the adrenal gland. The disorder usually occurs as a result of hormone secreting tumors in either the adrenal gland or the pituitary gland. Sometimes hormone secreting tumors may develop in other organs. Cushing's Syndrome occurs more frequently in females than in males, particularly women in their thirties following a pregnancy. The prognosis is good if the tumors can be removed. For patients who are not suitable candidates for surgery, drug therapy suppresses adrenal corticosteroid production. Symptoms The most common symptom shown by Cushing's Syndrome patients is excessive weight gain resulting in a rounding of the face and an obese torso with fat deposited particularly in the neck and above the collar bone. The arms and legs tend to remain slender. A reddened face with thin skin and visible blood vessels is also characteristic of Cushing's Syndrome. Wounds tend to heal poorly and bruises appear easily. Bluish-red stretch marks resulting from weakened connective tissue appear over the abdomen, thighs, buttocks, arms, armpits and breasts. Women with Cushing's Syndrome commonly develop excessive hair growth (hirsutism) on the face, neck, chest, abdomen and thighs. Menstrual disorders are also common with irregular or absent periods. Men with Cushing's Syndrome often experience decreased fertility along with a diminished or absent sex drive. High blood pressure, resulting from a buildup of fat in the arteries (atherosclerosis), occurs in 85% of patients with Cushing's Syndrome. Bones often become brittle and easily break or crack due to a decrease in bone mass (osteoporosis). High blood sugar (hyperglycemia), psychiatric disturbances, severe weakness and fatigue are also characteristic of this disorder. Causes Cushing's Syndrome results from an excess secretion of the hormone cortisol. Elevated levels of cortisol are most commonly the result of benign tumors of the pituitary gland. These pituitary tumors secrete the hormone ACTH (adrenocorticotropin) which, in turn, signals the adrenal glands to overproduce cortisol. This form of the syndrome is referred to as Cushing's Disease. Nonmalignant tumors in the adrenal glands are another cause of excess cortisol secretion. Potentially malignant tumors that arise in different parts of the body may also be responsible for an increase in ACTH. Cushing's Syndrome resulting from these tumors is called ectopic ACTH syndrome. The most common form of this type of tumor is oat cell or small cell lung cancer. Elevated levels of cortisol can also be caused by the long-term use of such hormones as prednisone which is used for the treatment of inflammatory illnesses such as rheumatoid arthritis. Prednisone should not be taken on a long-term basis if this is medically possible, in order to avoid this side effect. Elevated levels of cortisol may be caused in rare cases by the abnormal response of the adrenal glands to the ingestion of food. Food intake causes the release of protein-like substances from the stomach (gastric inhibitory polypeptides (or GIPs) that normally stimulate the adrenal glands to secrete cortisol. In some people with Cushing's Syndrome, the adrenal glands may secrete an abnormally excessive amount of cortisol in response to these protein-like substances. It is not understood why the adrenal glands respond abnormally in these cases of Cushing's Syndrome. Affected Population Cushing's Syndrome affects more women than men in a ratio of five to one. The age of onset is most commonly between 30 and 40 years, and women who have just given birth are at higher risk. Cushing's Disease makes up about 70% of all reported cases; Ectopic ACTH syndrome is responsible for about 17% of all reported cases. Adrenal tumors are responsible for the remainder of the reported cases. Related Disorders Symptoms of the following disorders can be similar to those of Cushing's Syndrome. Comparisons may be useful for a differential diagnosis: Addison's Disease is characterized by an underproduction of adrenocortical hormones, particularly aldosterone, a hormone that regulates salt and water balance and blood pressure. (For more information on this disorder, choose "Addison" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Cushing's Syndrome relates directly to the cause of the cortisol overproduction. Pituitary tumors may be removed surgically in an operation known as a transsphenoidal adenomectomy. Procedures and results vary according to the location and type of tumor. The success rate of this procedure is over 80%. After surgery, there is an expected drop in the production of ACTH. To compensate for this temporary deficit of ACTH, patients are given a synthetic hormone called hydrocortisone. This therapy usually lasts for less than one year. Patients who have not had success with surgery, or who are not suitable candidates for surgery, may be treated with radiotherapy. The pituitary gland is treated by radiation for a period of six weeks. Improvement occurs in 40% to 50% of adult patients and in approximately 80% of children. The drug Mitotane is often used in combination with the radiation therapy to help speed recovery. Occasionally, Mitotane is used alone. Other drugs used to control the production of excess cortisol are aminoglutethimide, metyrapone and ketoconazole. To stop the overproduction of cortisol caused by ectopic ACTH syndrome, all of the cancerous tissue that is secreting ACTH must by destroyed. Cancer treatment depends upon the type of cancer present and the extent to which it has spread. Cancer treatments may include surgery, radiotherapy, chemotherapy, immunotherapy or combinations of any of these. A cortisol-inhibiting drug such as mitotane is an important part of this treatment. Adrenal tumors are most commonly removed by surgery. If the cause of the elevated level of cortisol is due to the long-term use of hormones such as prednisone for the treatment of another disorder, the dosage may be reduced until symptoms are under control. The orphan drug trilostane (Modrastane) has been approved by the FDA for treatment of Cushing's Syndrome. Therapies: Investigational Researchers are studying a glucocorticoid antagonist, RU 486, for treatment of Cushing's Syndrome. The use of this drug is currently limited to clinical trials, and more research is needed to determine long-term safety and effectiveness. This research is going on at the National Institutes of Child Health and Human Development. Scientists are currently studying patients with Cushing's Syndrome at the National Institutes of Health (NIH) in Bethesda, Maryland. Physicians who are interested in referring a patient with Cushing's syndrome may contact: Dr. George P. Chrousos Developmental Endocrinology Branch NICHD Building 10, Room 10N262 Bethesda, Maryland 20892 (301) 496-4686 Scientists are in the process of developing new and better testing methods for diagnosing Cushing's Syndrome. The test under investigation involves the sampling of the drainage from the pituitary gland. Catheterization of the bilateral femoral vein allows sampling of the petrosal sinus. Then after administration of CRH, a definite diagnosis can be made of Cushing's Syndrome. Clinical trials are underway to study the CRH stimulation test in the evaluation of patients with Cushing's Syndrome. Interested persons may wish to contact: Dr. Karen Elkind-Hirsch, Ph.D. The Methodist Hospital, Dept. of Medicine-MS b200 6565 Fanin St. Houston, TX 77030 (713) 793-1088 to see if further patients are needed for this research. Clinical trials are underway to study the diagnosis and treatment of Cushing's Syndrome. Interested persons may wish to contact: Dr. David N. Orth AA-4206 Medical Center North Vanderbilt University Nashville, TN 37232 (615) 322-6199 to see if further patients are needed for this research. Clinical trials are underway for the hormonal evaluation of patients with Cushing Syndrome. Interested persons may wish to contact: Roy E. Weiss, M.D., Ph.D. Thyroid Study Unit, Box 138, University of Chicago 5841 South Maryland Ave. Chicago, Il 60637 (312) 702-6939 to see if further patients are needed for this study. This disease entry is based upon medical information available through October 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cushing's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Cushing Syndrome Association 4645 Van Nuys Blvd., #104. Sherman Oaks, CA 91403 (818) 788-9239 The National Adrenal Diseases Foundation 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Brain and Pituitary Foundation of America 1360 Ninth Ave., Suite 210 San Francisco, CA 94122 (209) 227-5466 References THE MERCK MANUAL, Volume 1, 14th Ed.: Robert Berkow, M.D. ed.-in-chief; Merck Sharp & Dohme Laboratories., 1982. Pp. 680. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1947-51. GASTRIC INHIBITORY POLYPEPTIDE-DEPENDENT CORTISOL HYPERSECRETION - A NEW CASE HISTORY. Andre LaCroix, et al., NE Jour Med (October 1992 327(14)): Pp. 974-980. FOOD-DEPENDENT CUSHING'S SYNDROME MEDIATED BY ABERRANT ADRENAL SENSITIVITY TO GASTRIC INHIBITORY POLYPEPTIDE. Y. Reznik, et al., NE Jour Med (October 1992 327 (14)): Pp. 981-986. Cushing Syndrome?- B-pagetitle 126: Cushing Syndrome 03640.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 175: Cutis Laxa _________________________ ** IMPORTANT ** It is possible the main title of the article (Cutis Laxa) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Dermatolysis Chalazodermia Dermatomegaly Chalasodermia Dermatochalasia DISORDER SUBDIVISIONS Congenital Cutis Laxa Syndrome Acquired Cutis Laxa Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cutis Laxa is a rare connective tissue disorder characterized by lax skin hanging in loose folds which may be thickened and is often pigmented. There are two forms of the syndrome. The congenital form may be either apparent at birth or within the first few months of life. This form may be inherited as either an autosomal dominant or as an autosomal recessive condition. The acquired form of Cutis Laxa appears at puberty or later, and occurs only rarely. Symptoms The congenital form of Cutis Laxa which is present at birth or is noticed during the first months of life, is frequently preceded by episodes of edema (swelling). It is characterized by a loss of elasticity of the skin and the formation of skin folds. This occurs wherever the skin is normally loose and hanging, but is particularly noticeable on the face. Children afflicted with the disorder often have a mournful or Churchillian face due to the lax skin folds. The disorder progresses during infancy and becomes less evident after puberty. While adult males may exhibit infantile genitalia and impotence, the general development of patients afflicted with the disorder is usually normal. In severe cases, there may be progressive pulmonary emphysema resulting in cor pulmonale (enlargement of the right ventricle of the heart). Occasionally, there may be hernias or the presence of diverticula in the GI tract. The acquired form of Cutis Laxa is clinically distinct from the congenital form. The disease may develop insidiously and it may appear at puberty or later in life, often preceded by episodes of angioedema or inflammation. The skin changes represented by folding are slow to develop. These folds may be either generalized or limited to the face, body or neck. There is vascular fragility and purpura (purplish reddish spots on the skin). Aortic rupture, pulmonary complications, respiratory insufficiency due to emphysema or gastroenteric manifestations may also occur. It may also develop following a severe illness involving fever, polyserositis, and erythema multiforme, usually in children or adolescents. Causes The cause of Cutis Laxa Syndromes is unknown. It may be inherited as either an autosomal recessive (more malignant forms) or incomplete autosomal dominant trait. Diagnostic distinction from the acquired form is only clinical and the etiologic distinction between the two forms is not clear. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) The congenital form of the disorder is more severe when emphysema is present. The disorder also appears to be more severe when it is inherited as an autosomal recessive trait. When the disease is inherited as an autosomal dominant trait, frequently the only problem associated with the disorder is cosmetic. The severity of the acquired form of Cutis Laxa Syndrome is determined by the intensity, progression and pulmonary complications of the disorder. Therapies: Standard While there is no specific therapy for patients with Cutis Laxa Syndromes, plastic surgery usually considerably improves the appearance of individuals with the inherited form, but may be less successful in acquired Cutis Laxa. Appropriate treatment of cardiorespiratory complications is necessary when they occur. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cutis Laxa, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 2100. Cutis Laxay pagetitle 175: Cutis Laxa 03641.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 889: Cyclic Vomiting Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cyclic Vomiting Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Chronic Vomiting in Childhood Abdominal Migraine Periodic Syndrome Childhood Cyclic Vomiting Information on the following diseases can be found in the Related Disorders section of this report: Pyloric Stenosis Migraine Headache General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Scientists assume that Cyclic Vomiting Syndrome is a rare form of "abdominal migraine" disorder in children. Major symptoms may include chronic nausea, vomiting, motion-sickness, abdominal pain and in some cases dizziness (vertigo) which may last hours to days. The attacks seem to be similar in onset and duration for each child. All of these symptoms tend to begin in early childhood around the age of three years, but may begin later. Symptoms Cyclic Vomiting Syndrome is a disorder of children that usually begins around the age of three years. However, even infants have been known to exhibit the symptoms of the disorder. It is characterized by recurrent periods of nausea and vomiting. Children may suffer from midline abdominal pain which is often accompanied by pale coloring, headaches, loss of appetite, upset stomach, dizziness, motion-sickness and recurrent vomiting. The vomiting may last several hours or a week or more. It may reoccur once a year or several times a week depending upon severity. Many times the child is aware of being excited or under stress, or having a cold or flu before the beginning of an attack of cyclic vomiting. Causes The exact cause of Cyclic Vomiting Syndrome is not known. It is assumed by scientists who have studied the syndrome that it is a type of "abdominal migraine". The determination of Cyclic Vomiting Syndrome can only be made after other causes of recurrent vomiting in children have been ruled out. No underlying disease has been found to cause Cyclic Vomiting Syndrome. No tests such as blood, x-ray or other diagnostic procedures have been found to predict the syndrome. However, the children tend to get migraine headaches when they grow to adulthood. Affected Population Cyclic Vomiting Syndrome is a rare disorder that usually occurs in children aged three and up. The syndrome may be present earlier, however, it is usually not apparent as a syndrome (a group of symptoms that occur together). The disorder rarely begins after puberty. Patients may be prone to migraine headaches in later years. The number of children affected by this disorder is unknown, but scientists suspect it is a massively undiagnosed or misdiagnosed condition. Related Disorders Pyloric Stenosis is a digestive disorder that is usually apparent during the first few months of life but it may also occur in adults. The development of projectile vomiting immediately after eating or when the stomach is filled is one of the first symptoms of Pyloric Stenosis. Because so little food reaches the intestines, constipation is a frequent complication as is failure of the infant to gain weight. The signs and symptoms of adult pyloric stenosis are similar to those in the infant. Migraine headaches can begin in childhood or middle age. However, they often occur for the first time during adolescence. The problem is more common in girls than in boys and there is frequently a strong family history of migraine headaches. Migraines, like other types of headaches, are increased in frequency by stress. They can be triggered by foods such as chocolate, red wine, or certain cheeses. Attacks, which are characterized by intense pain in the head caused by dilation of blood vessels, can last several hours or even days. The headache may be accompanied by nausea, vomiting, and extreme sensitivity to light. Therapies: Standard There is no known treatment to prevent or shorten attacks of Cyclic Vomiting. A variety of sedatives and anti-nausea medications have been used to treat the syndrome. Other treatment is generally symptomatic and supportive. Therapies: Investigational Research on this disorder is being conducted by Dr. David Fleisher (address given in the "Resource" section of this report.) This disease entry is based upon medical information available through February 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cyclic Vomiting Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812 (203) 746-6518 Cyclic Vomiting Syndrome Association 13180 Caroline St. Elm Grove, WI 53122 (414) 784-6842 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 National Headache/Migraine Foundation 5252 North Western Ave Chicago, IL 60625 (800) 523-8858 (Illinois) (800) 843-2256 (outside Illinois) Research is being conducted by: David R. Fleisher, M.D. Associate Professor of Pediatrics (Pediatric Gastroenterology) Department of Child Health University of Missouri School of Medicine Columbia, MO 65212 (314) 882-6993 References TESTING THE PSYCHOGENIC VOMITING DIAGNOSIS. FOUR PEDIATRIC PATIENTS., Gonzales-Heydrich, J. et al.; Am J Dis Child, August, 1991, (issue 145 (8)). Pp. 913-916. IDIOPATHIC GASTROPARESIS IN PATIENTS WITH UNEXPLAINED NAUSEA AND VOMITING, Wengrower, D., et al.; Dig Dis Sci, September 1991, (issue36 (9)). Pp. 1255-1258. VALUE OF ULTRASOUND IN DIFFERENTIATING CAUSES OF PERSISTENT VOMITING IN INFANTS., Rollins, MD, et al.; Gut, June, 1991 (issue 32 (6)). Pp. 612-614. THE PERIODIC SYNDROME IN PEDIATRIC MIGRAINE SUFFERERS. Lanzi, G. et al.; Cephalalgia, August 3, 1983, suppl 1: Pp. 91-93. ABDOMINAL MIGRAINE; A CHILDHOOD SYNDROME DEFINED. Symon, D.N. et al.; Cephalalgia, December, 1986, (issue 6 (4)). Pp. 223-228. REVERSIBLE QUANTITATIVE EEG CHANGES IN A CASE OF CYCLIC VOMITING: EVIDENCE FOR MIGRAINE EQUIVALENT., Jernigan, SA. et al.; Dev Med Child Neurol, January, 1991, (issue 33 (1)). Pp. 80-85. Cyclic Vomiting Syndrome pagetitle 889: Cyclic Vomiting Syndrome 03642.TXT CCopyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 24: Cystic Fibrosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cystic Fibrosis) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by the article. Synonyms Pancreatic Fibrosis Mucoviscidosis Mucosis Fibrocystic Disease of Pancreas CF General Description ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about the disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cystic Fibrosis is an inherited disorder that affects the exocrine, or outward-secreting, glands of the body. It affects children and young adults. The main consequences are related to the mucus producing glands. The secreted mucus is thick and sticky, clogging and obstructing air passages in the lungs and pancreatic bile ducts. Cystic Fibrosis also causes dysfunction of salivary and sweat glands. There is presently no cure for CF, but with proper treatment, those affected can lead active lives. Symptoms Ten to fifteen percent of those affected manifest symptoms at birth in the form of an intestinal blockage known as meconim ileus. In many others, symptoms appear during the first few months of life. Symptoms are varied and can be divided into three major groups. Pulmonary (respiratory) Problems: Most Cystic Fibrosis patients develop lung disease. The thick mucus obstructs the airways of the lungs and respiratory system. This interferes with the patient's breathing and may cause damage of the lung tissue. Cystic Fibrosis patients are also susceptible to lung infections, especially those caused by Staphylococcus Aureus and Pseudomonas Aeruginosa bacteria. Early symptoms include a dry, hacking, nonproductive cough, increased respiratory rate, often with wheezing, prolonged expiratory phases of respiration and decreased activity. Later signs include an increased cough with sputum production, rales, musical rhonchi, scattered or localized wheezes, repeated episodes of respiratory infection and signs of obstructive lung disease. Other symptoms include increased front to back measurement of the chest, diminished areas of cardiac dullness, a depressed diaphragm, and palpable liver border. There may also be decreased appetite, weight loss, failure to gain weight or grow, decreased exercise tolerance and digital clubbing. Advanced signs of the disease: chronic, paroxysmal, productive cough, often associated with vomiting; increased respiratory rate, shortness of breath on exertion, orthopnea, dyspnea; diffuse and localized rales and rhonchi; signs of marked obstructive lung disease; marked increase in front to back measurement - barrel chest, pigeon breast; limited respiratory excursion of thoracic cage; depressed diaphragm; hyperresonance over entire chest; decreased air exchange; noisy respiration - wheezing, bubbling, audible rales; marked decrease in appetite associated with weight loss; growth failure, stunting; muscular weakness, flabbiness; cyanosis; rounded shoulders, forward position of head, poor posture; fever, tachycardia; hemoptysis; atelectasis; pneumothorax; lung abscess; signs of cardiac failure - edema, enlarged, tender liver, venous distention; visual impairment and facial changes; bone pain and osteoarthropathy. Upper respiratory symptoms include nasal polyps and chronic sinusitis. There are also gastrointestinal problems. In Cystic Fibrosis, the thick mucus blocks the pancreatic duct that carries digestive enzymes to the intestines causing incomplete digestion of food. Pancreatic and nutritional symptoms may include: meconimeus; intestinal obstruction; intussusception; fecal masses; poor weight gain despite voracious appetite; easy bruising, secondary to vitamin K deficiency; malnutrition, poor muscle tone, small flabby muscles, lack of subcutaneous fat; and vitamin deficiencies. There may also be a distended abdomen, three or more bulky, greasy, floating, foul-smelling stools per day, chronic diarrhea in infancy, rectal prolapse, cramps and excessive foul gas, hypoproteinemia with generalized edema, pancreatitis and diabetes. Biliary cirrhosis and portal hypertension symptoms include: jaundice in new born; firm, modular liver, often palpable in midline; splenomegaly; hypersplenism - decreased white blood count and platelets, anemia; hematemesis and melena from esophageal varices; and ascites. Sweat gland problems also occur - Hyponatremia and Hypochloremia. Because of the high concentration of salt and chlorine secreted by the sweat glands, those suffering from Cystic Fibrosis experience extreme heat exhaustion during periods of exercise, hot weather or febrile states (fever). They also experience dehydration during periods of exercise, hot weather or febrile states. In addition, severe muscle cramps, weakness and shock may occur, or in the mild form the forehead tastes salty. Genital track involvement symptoms may include aspermia, blockage or absence of vas deferens cervical polyps and increased viscosity of mucus. Approximately ninety-five percent of males with cystic fibrosis are sterile. Women with CF usually have reproductive problems as well. Menstrual cycles may become irregular and vaginal infections may occur as a side effect of antibiotic treatment of this disorder. Although becoming pregnant may be difficult for women with CF, they are not sterile, and can give birth to normal children. Patients should be tested for Cystic Fibrosis when the following conditions are encountered: chronic cough, bronchitis, pneumonia, pertussis; allergy - rhinitis, sinusitis, nasal polyposis, and post nasal drip (sometimes mistakenly attributed to allergy); aspiration, chronic cough; asthma; nasal polyposis or chronic sinusitis; tuberculosis; pulmonary lesions; intestinal obstruction in the newborn; failure to thrive/ malnutrition; celiac disease; malabsorption; rectal prolapse; dysautonomia, agammaglobulinemia; cirrhosis of the liver; heat stroke; diagnosis of CF in a sibling; or a chest x-ray that reveals irregularity of aeration with patchy areas of atelectasis and generalized overinflation. Causes Cystic Fibrosis is inherited as an autosomal recessive disorder. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Recent scientific investigations indicate that a malformed protein located in the cell membrane may be linked to cystic fibrosis. A special channel or gate through which chloride particles normally flow in and out of the cell seems to involve an abnormality in the way chloride is transported across the cell membrane in some CF patients. The gene that causes Cystic Fibrosis was identified in 1989, which may shed light on more specific causes. The thick mucus that characterizes the disease may be caused by limited secretion of chloride (which affects water balance in the cell). Thus water might be held inside the cell, causing the passages to become dry. The mucus lining the passages may lose water and become thick. The same defect in cells lining the sweat glands is thought to alter the salt concentration in the sweat of CF victims. Another theory asserts that this defect is a byproduct of the disease rather than the primary defect. This theory involves the belief that the gene produces an enzyme that changes the chemical structure of the mucus. This overactive enzyme may also alter the chloride channels in sweat cell membranes, leading to production of abnormally salty sweat. Affected Population There are about 33,000 cases of Cystic Fibrosis in the United States. It mostly affects caucasian children and young adults, although there is a small but significant number of blacks and orientals affected. Therapies: Standard There is presently no cure for Cystic Fibrosis. Various treatments can help patients lead normal, active lives and those affected are usually encouraged to lead active lives. Genetic tests are available to determine if parents are carriers of the CF gene, and if a fetus will be affected. However, scientists are developing a neonatal screening test for Cystic Fibrosis. Since early treatment may lead to better quality of life for CF patients, this early diagnosis will be of great help to children with CF. In the area of physical therapy, postural drainage, specifically bronchial drainage is the most important form of preventive therapy and is often used in conjunction with aerosol inhalation. Postural Drainage loosens the mucus from the lungs and helps keep the lung passages open. This therapy is generally carried out twice a day. Breathing exercises help improve the patient's respiration, ventilation and posture. Aerosol therapy entails the inhalation of particulate water and medication via nebulizers and is effective in wetting and thinning the mucus secretions in the airways. Pancreatic deficiency is treated by replacement therapy and diet. A doctor can prescribe a diet which is high in protein, calories and vitamins. The prevention of infection is the best treatment of pulmonary infection and is a good means of maintaining clear airways. Patients should be given extra salt with their food and occasionally take salt tablets in order to be protected from acute salt loss. A doctor should be consulted regarding the amount of salt needed. Therapies: Investigational Research is ongoing in the treatment of Cystic Fibrosis. The 1989 discovery of a gene that causes cystic fibrosis (CF) has provided new impetus to the search for the underlying cause of CF. It is hoped that research on this gene will lead to new treatments and eventually a cure. Clinical trials of the Orphan Drug DNase were begun in June of 1990. DNase is an enzyme that affects the thickness of mucus secretions. One study of DNase is being conducted at the National Heart, Lung, and Blood Institute (NHLBI), the other study is underway at the University of Washington in Seattle, WA. DNase is manufactured by Genentech, South San Francisco, CA. Scientists are studying an aerosol high blood pressure drug, Amiloride, which may delay, but not prevent, lung damage in people with CF. More research is needed to determine the safety and effectiveness of this treatment. A new treatment, Secretory Leukocyte Protease Inhibitor (SLPI) is to begin to be used in clinical trials with human patients with collaboration by the National Heart, Lung & Blood Institute (NHLBI) and the manufacturer, Synergen, Inc., of Colorado. Information on the trials can be obtained from the Cystic Fibrosis Foundation listed in the Resources section. Univax Biologics, Inc., 12111 Parklawn Dr., Rockville, MD, 20852, has received orphan drug designation for MEPIG, generic name Mucoid Expolysacchride Pseudomonas Hyperimmune Globulin for the treatment of patients with Cystic Fibrosis for the prevention of lung infections due to Pseudomonas Aeruginosa. Drs. T. Kennedy and J. Hoidaal, 7702 Parham Rd., Richmond, VA, 23294, are working on an orphan drug, Dextran Sulfate (inhaled, aerosolized), trade name, Unedex, as an adjunct to the treatment of Cystic Fibrosis. Researchers are studying the use of aerosalized Alpha-1-Antitrypsin in CF patients. This drug is presently made in intravenous (IV) form by Miles Laboratories as Prolastin. However, the IV form does not seem to help the CF patient. More research is needed to determine if this drug will work when patients breathe it directly into the lungs. The FDA has approved the following drug for testing as a treatment for Cystic Fibrosis patients: The orphan drug amibride HCL solution for inhalation is being tested as a treatment for Cystic Fibrosis patients. The drug is manufactured by Glaxo, Research Triangle Park, NC. Other drugs being tested for CF include adenosine triphosphate and uridine triphosphate. These two drugs work on a chloride in the nasal passages to thin sputum. Recombinant human deoxyribonuclease is a drug that also works on thinning of the CF patient's sputum. The steroid prednisone is often used to control infection in CF patients; however, many persons experience serious side effects from its use. More study is needed to determine the long-term safety and effectiveness of this drug. A look into the use of ibuprofen to reduce the infection of chronic bronchitis that affects CF patients is also very promising. For additional information on the treatment of Cystic Fibrosis, see "Cystic Fibrosis: New Treatments Give Victims Precious Time" in the Prevalent Health Conditions/Concerns area of NORD Services. Clinical trials are underway to study the use of 1-antitrypsin (ProlastinR) in Cystic ibrosis. Interested persons may wish to contact: Melvin Berger, M.D., Ph.D. Rainbow Babies and Children's Hospital 2101 Adelbert Rd., Rm. 594 Cleveland, OH 44106 (216) 844-3237 to see if further patients are needed for this research. The orphan product, Cystic Fibrosis Transmembrane Conductance Regulator, sponsored by Genzyme Corp., Cambridge, MA, 02139, is being tested as a protein replacement therapy in patients with Cystic Fibrosis. Up until the end of 1991, 312 people with Cystic Fibrosis had undergone experimental lung transplants. Fifty-two percent of these patients survived three years after the transplant. Several researchers are studying gene therapy for Cystic Fibrosis by inserting the normal CFTR gene into a virus that causes a cold (adenovirus), and delivering the virus directly into the lung. When the virus is modified with the normal CFTR gene, its ability to reproduce itself is destroyed so that it cannot cause a cold. This research is being conducted by: Dr. Ronald Crystal NIH/National Heart, Lung & Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 Dr. Michael J. Welsh Howard Hughes Medical Institute Dept. of Internal Medicine University of Iowa College of Medicine Iowa City, IA 52242 Dr. James Wilson University of Michigan Medical Center Division of Meolecular Medicine and Genetics Ann Arbor, MI 48109-0650 This disease entry is based upon medical information available through November 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cystic Fibrosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Cystic Fibrosis Foundation 6931 Arlington Road Bethesda, MD 20814 International Cystic Fibrosis (Muscoviscidosis) Association 3567 East 49th Street Cleveland Ohio, 44105 (216) 271-1100) National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 Cystic Fibrosis Research Trust Alexandria House 5 Blyth Rd. Bromley, Kent BR1 3RS England Canadian Cystic Fibrosis Foundation 586 Eglinton Avenue East, Suite 204 Toronto, Ontario M4P 1P2 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed. R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1832, 2055. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1534., 1988. P. 1534. Cystic Fibrosis nts #D &Dpagetitle 24: Cystic Fibrosis 03643.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 631: Cystic Hygroma _________________________ ** IMPORTANT ** It is possible that the main title of this article (Cystic Hygroma) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Cystic Lymphangioma Fetal Cystic Hygroma FCH Familial Nuchal Bleb Hygroma Colli Information on the following disorders can be found in the Related Disorders section of this report: Cavernous Lymphangioma The following disorder can be associated with Cystic Hygroma: Turner Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Cystic Hygroma is an inborn tumor in the lymph system that may be inherited through autosomal recessive genes. This progressive disorder is characterized by a large sac filled with lymph fluid protruding from the skull at the nape of the neck. The Hygroma is thought to be caused by a failure of the lymph system to properly connect with the blood vessels in the neck and thus with the blood circulation system. Symptoms Cystic Hygroma is characterized by a sac resembling a bag of water usually at the nape of the neck. This sac grows under the skin and is filled with lymph fluid and lymph cells. The sac is thin-walled and compressible, and it grows rapidly upward toward the ear, or down toward the underarm area. More rarely, it may originate in the area under the arm, in the groin, the rear of the abdominal cavity, in the chest wall, the hip or tailbone region. Surgical or drug treatment usually keeps the tumor from growing very large. It may, however, become progressive, causing excessive fluids to accumulate throughout the body tissues (hydrops). Causes Cystic Hygroma is thought to be inherited through autosomal recessive genes. (Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, he or she will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Symptoms of Cystic Hygroma arise from failure of the lymph system to be properly connected with the blood circulation system. Affected Population Cystic Hygroma may be present at birth or it can begin during early childhood. This disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Cystic Hygroma. Comparisons may be useful for a differential diagnosis: Cavernous Lymphangioma (Lymphangioma Cavernosum) is the most common tumor of the lymph vessels, occurring at birth or during early childhood. Tumors consist of groups of deep-seated, gray, yellowish pink sacs of 1 to 5 mm in diameter, filled with lymph fluid and lymph cells. The tumors usually appear in the skin of the arms, underarm and shoulder area, but they may also appear on the mouth, throat, tongue, eyelids and around the eyeball, in the groin or upper thigh. Cavernous Lymphangioma is a slow-growing tumor. The skin over the sacs may become overgrown. (For more information on this disorder, choose "Cavernous Lymphangioma" as your search term in the Rare Disease Database.) The following disorder may be associated with Cystic Hygroma: Turner Syndrome is a rare genetic disorder affecting females which is characterized by lack of sexual development and an XO chromosome pattern in tissue cells. Small stature, possible mental retardation, heart defects and various other inborn abnormalities, sometimes including a cystic hygroma in the neck, also occur. (For more information, choose "Turner" as your search term in the Rare Disease Database.) Therapies: Standard Cystic Hygroma can be detected during pregnancy through ultrasonography and testing for a greatly elevated level of alpha-1-fetoprotein in the water sac surrounding the unborn fetus. Treatment of Cystic Hygroma may include surgery and/or the drug bleomycin in a microsphere-in-oil emulsion. However, the hygroma may recur after treatment. Genetic counseling can be helpful for families of patients with Cystic Hygroma. Therapies: Investigational This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cystic Hygroma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Lymphatic & Venous Diseases Association Cambridge Medical Supply 218 Monsignor O'Brien Highway Cambridge, MA 02141 Cystic Hygroma & Lymphangioma Support Group Villa Fontane, Church Road Worth, Crawley, Sussex RH10 4RT ENGLAND American Cancer Society 1599 Clifton Rd., NE Atlanta, GA 30329 (404) 320-3333 NIH/National Cancer Institute 9000 Rockville Pike, Bldg. 31, Rm. 1A2A Bethesda, MD 20892 1-800-4-CANCER The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give the public, cancer patients and families, and health professionals quick and easy access to many types of information vital to patients with this and many other types of cancer. To gain access to this service, call: Cancer Information Service (CIS) 1-800-4-CANCER In Washington, DC and suburbs in Maryland and Virginia, 636-5700 In Alaska, 1-800-638-6070 In Oahu, Hawaii, (808) 524-1234 (Neighbor islands call collect) For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References FETAL CYSTIC HYGROMA COLLI: ANTENATAL DIAGNOSIS, SIGNIFICANCE, AND MANAGEMENT: A.S. Garden, et al.; American Journal Obstet Gynecol (February 1986: issue 154(2)). Pp. 221-225. TREATMENT OF CYSTIC HYGROMA AND LYMPHANGIOMA WITH THE USE OF BLEOMYCIN FAT EMULSION: N. Tanigawa, et al.; Cancer (August 15, 1987: issue 60(4)). Pp. 741-749. FETAL CYSTIC HYGROMA AND TURNER'S SYNDROME: R.F. Carr, et al.; American Journal Diseases Children (June 1986: issue 140(6)). June 1986: issue 140(6)). An Journal Diseases Children ME: Pp. 580-583. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 1170. Cystic Hygroma pagetitle 631: Cystic Hygroma 03644.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 171: Cysticercosis _________________________ General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cysticercosis is a complication of severe tapeworm infections acquired by eating uncooked pork. The disorder is caused by larval pork tapeworms. The scientific name for this parasite is Taenia solium. Cysticerci are immature tapeworms which normally live in the muscle (meat) of swine. When they develop instead in human muscle and die, they can cause severe inflammatory reactions. Cysticercosis is a rare disorder in the United States, Western Europe, Japan and in non-pork eating cultures. Symptoms In Cysticercosis, heavy infection with larval pork tapeworms, or cysticerci, is characterized by muscle pains, fever, and weakness. Although the cysticerci usually restrict themselves to muscle and subcutaneous tissues, they may occasionally invade the central nervous system where they can cause epilepsy or inflammation of the brain and its covering membranes. Other organs occasionally involved are the eye, heart and lung. Ocular manifestations include inflammation of the various structures of the eye and detachment or hemorrhaging of the retina. As long as these larvae remain alive, they appear to be able to "disguise" themselves from the host's immune system causing only mild symptoms. When one of them dies, however, there is a strong immune defensive reaction against it or the cyst surrounding it. The cyst itself may become enormous. Such inflammatory reactions can cause severe illness, particularly if the cysticercus is lodged in the central nervous system or lung. Causes Cysticercosis results from eating inadequately cooked pork containing tapeworm eggs. The normal life cycle of pork tapeworms is as follows: the pig ingests tapeworm eggs (released through the stool from adult tapeworms living in the intestine of a human host). In the pig's intestine, the eggs hatch and burrow through the gut wall into muscle tissue. There they encyst and develop into larvae called cysticerci. When the pig is killed and its meat eaten by a person, the cysticerci are released and attach themselves to the wall of the intestine where they develop into egg producing adult tapeworms. When an individual ingests tapeworm eggs (rather than the larvae), these also find their way into the muscle, subcutaneous tissue, etc. But because humans are not normally eaten, the eggs remain in these tissues indefinitely, unable to proceed to the next stage of their life cycle. Thus, they may eventually die causing the severe inflammatory reactions described above. Cysticercosis can also develop if regular tapeworm infections are treated carelessly. Killing the adult tapeworms pharmaceutically causes them to release large numbers of eggs into the intestine and some of these may enter the intestinal wall as described above. Affected Population Pork tapeworm infections, and therefore Cysticercosis, are common only in Asia, Russia, Eastern Europe, and Latin America. Related Disorders Tapeworms can be acquired from various uncooked meats, including beef and fish, but only pork tapeworms appear to produce larvae capable of invading human muscle and forming cysts. Therapies: Standard Thoroughly cooking pork before eating it prevents infection with pork tapeworm. Special care must be taken when cooking pork in microwave ovens to assure the meat is well cooked. Established tapeworms can be eliminated using antiparasitic medications such as niclosamide or paronomycin. As described above, care must be taken to avoid the release of large quantities of eggs from the dying tapeworms as this may cause Cysticercosis. Large cysts containing cysticerci are usually removed surgically. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cysticercosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1892. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 229. Cysticercosis pagetitle 171: Cysticercosis 03614.TXT Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 177: Coffin-Siris Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Coffin-Siris Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mental Retardation with Hypoplastic 5th Fingernails and Toenails Dwarfism-Onychodysplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Coffin-Siris Syndrome, a disorder of unknown cause, is present from birth and affects both sexes equally. It is chiefly characterized by feeding problems, frequent respiratory infections, and growth deficiencies. Symptoms Feeding problems, vomiting, and recurrent respiratory infections are the first manifestations of Coffin-Siris Syndrome. Mental deficiency and mild to severe hypertonia (excessive tension or activity) also occurs. Clinical signs include short stature and a coarse looking face with bushy eyebrows, low nasal bridge, wide nose and/or mouth and thick lips. The 5th fingernails and toenails may be incompletely developed (hypoplastic) or absent. Scalp hair is possibly sparse. There may also be hypertrichosis (excessive hair growth ) and joints may be lax (dislocated elbows are common). Retardation in linear height as well as in dental, motor, and mental development may also occur. Occasionally, patients develop variable skin, skeletal, genital, cardiac defects and Dandy-Walker Syndrome. Causes The precise cause of Coffin-Siris Syndrome is unknown at this time. The disorder appears sporadically. It may possibly be inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Related Disorders Patients with Coffin-Siris Syndrome may also have Dandy-Walker Syndrome. Therapies: Standard Treatment of Coffin-Siris Syndrome is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Coffin-Siris Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L. Jones, M.D., W.B. Saunders, Co. 1988. Pp. 522-3. MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 258-9. Coffin-Siris Syndrome dwidi pagetitle 177: Coffin-Siris Syndrome 03615.TXT `"Q"Copyright (C) 1990 National Organization for Rare Disorders, Inc. 751: Cohen Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cohen Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Pepper Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Prader-Willi Syndrome Marfan Syndrome Sotos Syndrome Hypothyroidism Retinitis Pigmentosa General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cohen Syndrome is a rare genetic disorder characterized by multiple facial, mouth and eye abnormalities, muscle weakness, obesity and mental retardation. Symptoms Children with Cohen Syndrome usually have a low birthweight, delayed growth, and obesity of the trunk that occurs during mid-childhood. Other characteristics of this disorder may include muscle weakness, (an unusually small head (microcephaly), high nasal bridge, short philtrum (the vertical groove in the middle of the upper lip), an open mouth, prominent lips and upper central incisors, and large ears. The jaw may develop abnormally, and there may be a mild downslant of the eyelids. Diminished vision in bright light (hemeralopia), decreased clarity of vision, a narrowing of the visual field, and degeneration of the retina (retinitis pigmentosa) may also occur. Other characteristics of Cohen Syndrome may be narrow hands and feet with long fingers and toes, a single crease (Simian) on the palms of the hands, unusual increased extension (hyperextensible) of the joints, deformities of the knees, elbows, and spine, and mild scoliosis (curvature of the spine). Delayed puberty, undescended testicles in males (cryptorchidism) and mild to moderate mental retardation are also symptomatic of this rare disorder. Occasionally people with Cohen Syndrome may have abnormally small eyes, missing eye tissue, mild webbing of the fingers (syndactyly), seizures, a reduced number of white blood cells (leukopenia), tall stature, and mitral valve prolapse in the heart. Causes Cohen Syndrome is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If a person receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Cohen Syndrome is a rare genetic disorder that affects males and females in equal numbers. It occurs more frequently in people of Eastern European Jewish descent. Related Disorders Symptoms of the following disorders can be similar to those of Cohen Syndrome. Comparisons may be useful for a differential diagnosis: Prader-Willi Syndrome is a complex, multi-system disorder present more often in males born following a long gestation period. Females can also be affected. The primary features of the disease include infantile muscle weakness, failure to thrive, hypogonadism, and developmental delay. Severe obesity, which can be life threatening, develops after the first year of life. Short stature and abnormal intellectual and behavioral functioning is characteristic of this disorder. (For more information on this disorder, choose "Prader-Willi" as your search term in the Rare Disease Database). Hypothyroidism may be a genetic or acquired condition that occurs alone or as a symptom of another illness. Major symptoms may include the development of an enlarged thyroid gland (goiter) in the neck, a dull facial expression, puffiness and swelling around the eyes, drooping eyelids and thinning hair which is coarse and dry. Intelligence may or may not be affected. Untreated childhood hypothyroidism is characterized by slowed growth, delay in the development of teeth, and mental retardation. (For more information on this disorder, choose "Hypothyroidism" as your search term in the Rare Disease Database). Sotos Syndrome is a rare hereditary disorder characterized by excessive growth during the first 4 to 5 years of life. Other symptoms are an unusual aggressiveness or irritability, clumsiness and an awkward gait. People with this disorder have abnormal patterns on the ridges of the skin on fingers, palms, toes and soles. Bone age tends to be 2 to 4 years advanced, and patients have a disproportionately large and long head with a slightly protrusive forehead, large hands and feet. Mild mental retardation also occurs. (For more information on this disorder, choose "Sotos" as your search term in the Rare Disease Database). Marfan Syndrome is an inherited disorder of the connective tissues that affects the bones and ligaments (skeletal system), muscles, lungs, the eyes, blood vessels and heart. People with this disorder are unusually tall and can move their joints beyond the normal range. (For more information on this disorder, choose "Marfan" as your search term in the Rare Disease Database.) Retinitis Pigmentosa (RP) is one of a group of inherited eye diseases causing degeneration of the retina. When the retina degenerates, the vision decreases and may occasionally be lost. Retinitis Pigmentosa may be associated with other symptoms such as deafness, central nervous system disorders, metabolic disorders and even chromosomal abnormalities. Some people with Cohen's Syndrome may also have Retinitis Pigmentosa. (For more information on this disorder, choose "Retinitis Pigmentosa" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Cohen Syndrome may include surgery to correct the facial deformities, visual problems, webbed fingers, and undescended testicles. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cohen's Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 871. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones, M.D.; W.B. Saunders Co., 1988. Pp. 174. COHEN URETERAL REIMPLANTATION: SONOGRAPHIC APPEARANCE. P. Mezzacappa, et al.; RADIOLOGY (December 1987, issue 165 (3)). Pp. 851-852. COHEN SYNDROME: A CONNECTIVE TISSUE DISORDER? K. Mehes, et al.; AM MED GENET (September 1988, issue 31 (1)). Pp. 131-133. INTRAFAMILIAL VARIATION IN COHEN SYNDROME. I. Young, et al.; J MED GENET, (August 1987, issue 24 (8)). Pp. 488-492. COHEN SYNDROME WITH BULL'S EYE MACULAR LESION. K. Resnick, et al.; OPHTHALMIC PAEDIATR GENET (March 1986, issue 7 (1)). Pp. 1-8. COHEN SYNDROME IN ISRAEL. J. Sack, et al.; ISR J MED SCI (November 1986, issue 22 (11)). Pp. 766-770. Cohen Syndrome]# `#pagetitle 751: Cohen Syndrome 03616.TXT Copyright (C) 1989, 1991 National Organization for Rare Disorders, Inc. 630: Colitis, Collagenous _________________________ ** IMPORTANT ** It is possible that the main title of this article (Collagenous Colitis) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Information on the following disorder can be found in the Related Disorders section of this report: Colitis, Ulcerative (Idiopathic Proctocolitis) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Collagenous Colitis is a chronic digestive disease characterized by changes in the lining of the large intestine (colon). The colon is inflamed and contains a thickened layer of the protein collagen in its walls. Chronic diarrhea and weight loss also occur. Symptoms Collagenous Colitis is characterized by watery diarrhea that may be recurrent or chronic. The large intestine is usually inflamed. Mild weight loss and abdominal pain also occur. In some cases, Collagenous Colitis may spontaneously go into remission whereas in other cases it may be chronic. Excessive amounts of a protein (collagen) thickens the wall of the colon causing symptoms of the disease. Causes The exact cause of Collagenous Colitis is not known. The disorder may be caused by injury to the colon wall or by an inflammation that triggers excess collagen to accumulate, or by a toxic substance. Affected Population Collagenous Colitis affects women in greater numbers than men. Patients are usually middle-aged when symptoms begin. Related Disorders Symptoms of the following disorder can be similar to those of Collagenous Colitis. Comparisons may be useful for a differential diagnosis: Ulcerative Colitis (Idiopathic Proctocolitis) is an acute non-specific inflammatory bowel disorder, characterized by multiple, irregular, superficial ulcerations. Thickening of the wall of the colon with scar tissue and polyp-like structures occurs, resulting from prolonged inflammation. This disorder may involve only the left side of the colon or may eventually extend to involve the entire bowel simultaneously. Ulcerative Colitis is usually chronic, with repeated periods of exacerbation and remission. The chief symptom is bloody diarrhea. (For more information, choose "Colitis, Ulcerative Colitis" as your search terms in the Rare Disease Database.) Therapies: Standard Treatment for Collagenous Colitis with the antibacterial sulfonamide drug sulfasalazine may be helpful for reducing inflammation. Therapies: Investigational The FDA has approved the following drug for treating as a treatment or Collagenous Colitis: The orphan drug Altracin (bacitracin) is being tested for the treatment of antibiotic-associated pseudomembranous enterocolitis caused by toxins A and B elaborated by clostridium difficile. This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Collagenous Colitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ileitis and Colitis 444 Park Avenue South New York, NY 10016 (212) 685-3440 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 References COLLAGENOUS COLITIS: PHYSIOLOGIC AND HISTOPATHOLOGIC STUDIES IN SEVEN PATIENTS: F.M. Giardiello, et al.; Annals Internal Medicine (January 1987: issue 106(1)). Pp. 46-49. COLLAGENOUS COLITIS: H. Rams, et al.; Annals Internal Medicine (January 1987: issue 106(1)). Pp. 108-113. SULFASALAZINE IN TREATMENT OF COLLAGENOUS COLITIS. CASE REPORT AND REVIEW OF THE LITERATURE: N. Weidner, et al.; American Journal Medicine (July 1984: issue 77(1)). Pp. 162-166. Colitis, Collagenous pagetitle 630: Colitis, Collagenous 03617.TXT %Copyright (C) 1986, 1990, 1991 National Organization for Rare Disorders, Inc. 87: Colitis, Ulcerative _________________________ ** IMPORTANT ** It is possible that the main title of the article (Ulcerative Colitis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Idiopathic, Non-Specific Ulcerative Colitis Idiopathic Proctocolitis Chronic, Non-Specific Ulcerative Colitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ulcerative Colitis is a non-specific inflammatory disease of the bowel characterized by chronic ulceration. The chief characteristic of this disorder is bloody diarrhea. This disease of unknown cause generally begins in the rectosigmoid area. It may involve only the left side of the colon or may eventually extend to involve the entire bowel. However, in some cases it may attack most of the large bowel simultaneously. The disease is usually chronic, with repeated periods of exacerbation and remission. Ulcerative colitis is an acute nonspecific inflammation of the colon characterized by multiple, irregular superficial ulcerations. Thickening of the wall of the colon with scar tissue and polyp like structures are the result of prolonged inflammatory reactions. Symptoms The symptoms of ulcerative colitis may first include malaise, weakness and fatigue. A vague abdominal discomfort may be associated with a slight change in the frequency and consistency of stools. Later there may be pain along with cramping in the abdomen, and urgency (tenesmus). Anorexia, loss of weight, and abdominal distention may also be present. Ulcerative colitis generally manifests itself by means of attacks of bloody diarrhea which may vary in intensity and duration, followed by intervals when the patient is fairly asymptomatic. There is an increased urgency to defecate, mild cramps in the lower abdomen, and the stools may contain mucus and blood. However, in some cases the onset of the attack may be explosive with acute symptoms. In this instance, episodes of diarrhea may be sudden and violent. Patients may develop high fever, signs of peritonitis (inflammation of the membrane lining the abdominopelvic walls) and a profound toxemic state may exist. Causes The exact cause of ulcerative colitis is unknown. The disorder may be related to immunological agents, or may be caused by an unknown environmental agent. There is a documented familial tendency. A study of the incidence of Ulcerative Colitis and Crohn's Disease conducted in Denmark (published in 1991) indicates that relatives of people with either of these inflammatory bowel diseases has a 10-fold increased risk of developing the disease. This study suggests that the cause of both disorders may be genetic. Psychological factors may also have an effect on this disorder, but are not considered a cause. Affected Population Ulcerative colitis may begin at any age, but its peak incidence is between the ages of 20 and 25 years. There is also a perceptible increase in frequency in the fifth and sixth decades of life. The disease is more prevalent among Jews, but all ethnic groups appear to be at risk. Therapies: Standard The treatment for ulcerative colitis depends upon the severity of the disease. Mild forms of the disease may be managed with nonspecific supportive measures. These include adequate physical and emotional relaxation. The patients may follow a normal diet refraining only from the roughage in raw fruits and vegetables. Approximately one third of patients find milk an irritant and it should also be eliminated. Anti-diarrheal agents may also be necessary. Sulfasalazine may be used in mild to moderate forms of the disease. In order to reduce gastrointestinal side effects of the drug (nausea, indigestion, and anorexia), it should be taken with meals and the dosage increased gradually by the patient's physician. In cases of either mild or moderate severity, hydrocortisone enemas may occasionally be effective in achieving remission especially if the disease is located in the rectum or left colon. If the disease is severe, corticosteroid therapy may be indicated. Intensive therapy with prednisone frequently induces remission. Sulfasalazine may be given to the patient in conjunction with prednisone. After improvement, it may be possible to gradually taper the dosage of the corticosteroid and ultimately withdraw it. Chronic fecal blood loss may require iron in order to prevent anemia. The more severe attacks of ulcerative colitis may require hospitalization and parenteral corticosteroid (e.g., Hydrocortisone IV) or ACTH therapy. When remission has been obtained, oral prednisone therapy may be substituted, then gradually reduced after continued improvement. Immunosuppressive drugs such as azathioprine and 6-mercaptopurine have also been used to treat some patients with this disorder. Occasionally surgery may be necessary (colectomy and ileostomy), and offers the only permanent cure. Newer surgeries which offer continence and/or preservation of the anal sphincter are now available. The prognosis of ulcerative colitis is uncertain. While in most cases the disease is chronic with repeated exacerbations and remissions, complete recovery has occurred after a single attack in about ten percent of patients. The disease may be more severe when the onset occurs after sixty years of age. Possible complications of the disease may include arthritis, inflammation of the tissues surrounding the bile ducts known as pericholangitis, or inflammation of the vertebrae known as ankylosing spondylitis. Further complications may include abcesses in the rectum or colon, fistulas or intestinal perforations, and skin and eye disorders. Carcinoma of the colon may develop, but the risk is higher in those patients with universal colitis of more than ten years duration. The FDA recently approved the drug Dipentum (olsalazine sodium) for the treatment of Ulcerative Colitis patients. Dipentum is not a sulfa-related drug and therefore does not have sulfa-related side effects. The drug is manufactured by Pharmcia Inc., Piscataway, NJ. Therapies: Investigational George D. Ferry, M.D. has been awarded a grant from the Office of Orphan Products Development, Food and Drug Administration, for his research on using Olsalazine to treat childhood Ulcerative Colitis. For more information, please contact: George D. Ferry, M.D. Baylor College of Medicine Gastroenterology Research Unit, Section of Gastroenterology Department of Pediatrics 1709 Dryden, Suite 1103 Houston, TX 77030-2403 (713) 791-3201 Studies are being conducted in the use of Sandoglobulin as a treatment for Ulcerative Colitis. Further investigation is needed to determine it's safety and effectiveness. Dr. Warren L. Beekan of the University of Vermont has received a New Grant Award for 1990 from the Office of Orphan Products Development for controlled trials using 4-ASA in the treatment of Ulcerative Colitis. The orphan drug Pamisyl (P-D) is being tested for treatment of mild to moderate Ulcerative Colitis in patients intolerant of sulfasalazine. The drug is being tested by Warren Beekan, M.D., University of Vermont, Burlington, VT. The FDA has approved the following drugs for testing as treatments for Ulcerative Colitis patients. The orphan drug Altracin (bacitracin) is being tested for treatment of antibiotic-associated pseudomembraneous enterocolitis caused by toxins A and B elaborated by clostridium difficile. The drug is manufactured by A.L. Laboratories, Ft. Lee, NJ. The orphan drug short-chain fatty acid solution is being tested for treatment of the active phase of Ulcerative Colitis with involvement restricted to the left side of the colon. The treatment is being tested by Richard Breuer, M.D., Evanston, IL. This disease entry is based upon medical information available through March 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ulcerative Colitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation of Ileitis and Colitis, Inc. 444 Park Avenue South New York, NY 10016 (212) 685-3440 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 United Ostomy Association, Inc. 36 Executive Park, Suite 120 Irvine, CA 97214 (714) 660-8624 References THE MERCK MANUAL 15th ed.: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 801. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 753-60, 787-8. FAMILIAL OCCURRENCE OF INFLAMMATORY BOWEL DISEASE, M. Orhold, MD, N Eng J Med, (January 10, 1991, issue 324 (2)). Pp. 84-88... Colitis, Ulcerative &pagetitle 87: Colitis, Ulcerative 03618.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 141: Colorado Tick Fever _________________________ ** IMPORTANT ** It is possible that the main title of the article (Colorado Tick Fever) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Mountain Fever Mountain Tick Fever General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Colorado Tick Fever is a viral infection transmitted by ticks prevalent in the western United States. Fever, headaches, muscle aches, and generalized discomfort characterize the illness, which resolves spontaneously. Symptoms Colorado Tick Fever has an abrupt onset about five days after a tick bite, which usually occurs at moderate altitudes during spring or early summer. The symptoms are flu-like and may include chills, headache, increased sensitivity to light, muscle pains (especially in the back), fatigue, nausea, vomiting, and lack of appetite. There may be a slight, reddish rash, and the spleen can become enlarged. Fever may rise sharply and require treatment. Causes Colorado Tick Fever is caused by a virus belonging to the arboviruses. It is transmitted from one patient to another by a tick known as the hard shelled wood tick, or Dermacentor andersoni. Therapies: Standard Treatment for Colorado Tick Fever is symptomatic. Therapies: Investigational This disease entry is based upon medical information available through September 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Colorado Tick Fever, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, N.E. Atlanta, GA 30333 (404) 639-3534 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1819-21, 2193. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 166, 190. Colorado Tick Fever (203G pagetitle 141: Colorado Tick Fever 03619.TXT `&C&Copyright (C) 1990 National Organization for Rare Disorders, Inc. 754: Condyloma _________________________ ** IMPORTANT ** It is possible that the main title of the article (Condyloma) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Venereal Wart Genital Wart Condyloma Acuminatum Disorder Subdivision: Condyloma Latum Condyloma Acuminatum, Giant (also known as Busche-Lowenstein Tumor) Information on the following diseases can be found in the Related Disorders section of this report: Common Warts Bowen's Disease Herpes Simplex Squamous Cell Carcinoma General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Condyloma is a wart. It is caused by the human papilloma virus (HPV) and usually transmitted by direct sexual contact. These warts can be found on the genitals, mucous membranes of the mouth, near the anus, or in the rectum. Symptoms Condyloma is a common infectious venereal disease that is characterized by small, soft, moist, pink or red elevations on the skin or mucous membranes (warts). These warts are caused by direct contact with the papilloma virus (human papilloma virus (HPV), either type 1, 2, 6, or 11). They have an incubation period of 1 to 6 months. The warts are not painful but they can spread rapidly on the genitals, mucous membranes, around the anus, and in the rectum. Occasionally there may be a single wart, but most often they cluster together, taking on a cauliflower-like appearance. In females, condylomas can be found on the walls of the vagina or cervix, on the area between the vulva and anus (perineum), or in the rectum. Pregnancy or a chronic vaginal discharge can cause these warts to grow and spread more rapidly. Regular examinations by a gynecologist, that includes a Pap Test, are important for women who have had venereal warts. An increased number of cases of cervical cancer in women with Condyloma has shown a distinct connection between cancer and the HPV virus. Men who have been infected with the human papilloma virus may have Condyloma warts around the foreskin and/or shaft of the penis, around the anus or in the rectum. Occasionally, they may involve the urethra which is the tube that extends through the penis into the bladder allowing urination. Condyloma Latum is a type of venereal wart that is a sign of secondary Syphilis in women. It is a highly contagious disease and is characterized by broad, flat, irregular-shaped patches on the vulva or anus. Giant Condyloma Acuminatum, also known as Buschke-Lowenstein tumor, is a form of Condyloma that can affect women but is more common in uncircumcised males. Although these warts appear most often on the penis, they may occur on the mucous membranes of the mouth, rectum, vulva or the area between the vagina and rectum in women. They can spread rapidly, causing the foreskin on the head of the penis to draw together (phimosis). Circumcision, which is a surgical removal of the foreskin, would help in preventing this form of Condylomata in males. Causes Condyloma is a common infectious venereal disease that is caused by the human papilloma virus (HPV). It is transmitted by direct sexual contact. Affected Population Condyloma is an infectious disease that affects males and females equally. Sexual practices, multiple sexual partners, poor hygiene, and an early onset of sexual activity have all been implicated in an increased susceptibility to this virus. Pregnant women are more prone to this disease, and if not adequately treated can transmit the virus to the baby at the time of delivery. Incidence of rectal and anal warts are more commonly found among homosexual males. Related Disorders Symptoms of the following disorders can be similar to those of Condyloma. Comparisons may be useful for a differential diagnosis. Bowen's Disease is a precancerous, slow growing skin malignancy. It is characterized by irregularly shaped, pinkish or brownish raised areas of skin (papules). This skin disease can occur on any part of the body, in the mucous membranes or on the genitals. (For more information on this disorder, choose "Bowen" as your search term in the Rare Disease Database.) Common Warts or verruca are small hard raised growths on the surface of the skin. These growths are caused by a virus and can appear on any part of the body. Warts can vary from normal skin color to a dark brown-black and occur most often on the fingers, elbows, and knees. Less frequently they can occur on the face and around the edges of the nails. Herpes Simplex is a common recurrent infection by the herpes simplex virus. It is characterized by clusters of small blisters filled with clear fluid on slightly red bases. These blisters can appear on the skin, mucous membranes and the genital area. The virus is transmitted by direct contact with the lesions, sometimes during sexual contact. Squamous Cell Carcinomas are common skin cancers usually appearing on the sun exposed areas of the skin. However they may occur anywhere on the body, including the genitals. The lesions begin as a small red elevation or patch with a scaly or crusted surface. They may become nodular, sometimes with a warty surface. In some, the bulk of the lesion may lie below the level of the surrounding tissue. A biopsy is essential to diagnose this disorder. Therapies: Standard Since Condyloma is a sexually transmitted disease, both partners should be examined and treated. Treatment of Condyloma consists of topical medications such as podophyllin or trichloroacetic acids. This treatment may need to be repeated to assure complete removal of the warts. Genital warts may also be treated under local or general anesthesia by an exposure to extreme cold (cryosurgery), or by cauterizing the wart with heat from an electric current (electrocauterization) or laser therapy. Surgical removal may be necessary for the more extensive cases of this disease. Condylomas are difficult to treat, relapses are frequent, and several treatments are often necessary. Circumcision may help to prevent a recurrence of this disease in men. Condoms, used correctly, can give some protection and help to avoid re-infection from this and other sexually transmitted diseases. Those people who have been diagnosed with the papilloma virus (types 6, 11, 16, and 18), and their sexual partners, should be followed closely by their physicians. This is due to the fact that certain forms of cancer have occurred after a history of genital warts. Therapies: Investigational The orphan drugs Interferon Alpha-2B and Interferon-NL are being tested as treatments for the human papillomavirus in those patients with recurrent respiratory (Laryngeal) papillomatosis. For more information on the Orphan Drug Interferon-Alpha-2B, physicians can contact Schering Corp., 2000 Galloping Hill Road, Kenilworth, NJ 07033. (For more information on the Orphan Drug Interferon-NL, physician can contact Burroughs Wellcome, 3030 Cornwallis Road, Research Triangle Park, NC 27709. This disease entry is based upon medical information available through July 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Condyloma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Social Health Association 100 Capitola Dr., Suite 200 Research Triangle Park, NC 27713 (919) 361-8400 National Sexully Transmitted Diseases Hotline (800) 227-8922 Council for Sex Education and Information 444 Lincoln Blvd., Suite 107 Venice, CA 90291 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 References THE MERCK MANUAL, Volume 2, 15th Ed.: Robert Berkow, M.D., ed.-in-chief; Merck Sharp & Dohme Laboratories., 1988. Pp. 250. TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, M.D. et al.; ed.-in-chief; W.B. Saunders Co., 1988. Pp. 2324. CONDYLOMATA ACUMINATA (VENEREAL WARTS). J. Enterline, et al.; NURSE PRACT (April 1989, issue 14 (4)). Pp. 8-16. INTERFERONS IN THE TREATMENT OF GENITAL HUMAN PAPILLOMAVIRUS INFECTIONS. P. Weck, et al.; AM J MED (August 29, 1988, issue 85(2)). Pp. 159-164. HUMAN PAPILLOMAVIRUS TYPING OF PENILE CONDYLOMA. W. O'Brien, et al.; J UROL (April 1989, issue 141(4)). Pp. 863-865. CERVICAL DYSPLASIA AND HUMAN PAPILLOMAVIRUS. J. Carmichael, et al.; AM J OBSTET GYNECOL (April 1989, issue 160(4)). Pp. 916-918. PATIENT APPLIED PODOFILOX FOR TREATMENT OF GENITAL WARTS. K. Beutner, et al.; LANCET (April 1989, issue 1(8642)). Pp. 831-834. HUMAN PAPILLOMAVIRUS INFECTION: A POTENTIALLY CARCINOGENIC SEXUALLY TRANSMITTED DISEASE (CONDYLOMATA, GENITAL WARTS). V. Lucas; NURS CLIN NORTH AM (December 1988, issue 23 (4)). Pp. 917-935. Condyloma th p]' `'pagetitle 754: Condyloma 03620.TXT @,8,Copyright (C) 1991 National Organization for Rare Disorders, Inc. 847: Cone Dystrophy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cone Dystrophy) is not the name you expected. Please check the SYNONYM listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Combined Cone-Rod Degeneration Cone-Rod Degeneration Cone-Rod Degeneration, Progressive Cone-Rod Dystrophy Retinal Cone Degeneration Retinal Cone Dystrophy Retinal Cone-Rod Dystrophy Information on the following diseases can be found in the Related Disorders section of this report: Flecked Retina Syndrome Leber's Optic Atrophy Macular Degeneration Oguchi's Disease Retinitis Pigmentosa X-linked Juvenile Retinoschisis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Cone Dystrophy is a rare disorder of the eye that is usually inherited. However there have been numerous reports of cases appearing for no apparent reason. The cells that receive light stimuli (cone cells and rod cells) in the retina of the eye deteriorate causing impaired vision. This disorder normally occurs during the first to third decades of life. Symptoms Symptoms of Cone Dystrophy may include impaired central vision (vision directly ahead), faulty color vision (usually red-green or blue-yellow defects), day blindness (vision decreases in good light), and a rapid or jerky movement of the eyeball (nystagmus). Some patients may have lesions in the middle of the retina known as "Bull's Eye" macular lesions and there may be a lack of color in the optic disc (the "blind spot" or part of the eye with no light receptors). When Cone Dystrophy is associated with an X-linked inheritance, the patient may have a golden yellow sheen throughout the retina and become blind due to dark spots in the visual field. This X-linked form of the disorder only occurs in males. Female carriers of the gene occasionally show extremely mild features of the disorder. Causes Cone Dystrophy may occur for no apparent reason or be caused by X-linked recessive, autosomal dominant or autosomal recessive inheritance. The most common cause of this disorder is autosomal recessive inheritance. Human traits including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will receive both normal genes, one from each parent, and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. Affected Population Cone Dystrophy affects males and females equally when there is an autosomal dominant or autosomal recessive inheritance. Males and females are equally affected when the disorder occurs sporadically. However, when Cone Dystrophy is inherited as an X-linked disorder it affects only males although female carriers can show mild symptoms. The X-linked form of the disorder the rarest. The symptoms of Cone Dystrophy usually present themselves between the first and third decades of life. Related Disorders Symptoms of the following disorders can be similar to those of Cone Dystrophy. Comparisons may be useful for a differential diagnosis: Flecked Retina Syndrome is a rare disorder that is characterized by reduced vision and impaired night vision in some cases. The area behind the retinal vessels appears to be marked with white or yellow flecks when an ophthalmologist looks at it. This disorder is usually autosomal recessive and affects both sexes equally. (For more information on this disorder, choose "Leber's Optic Atrophy " as your search term in the Rare Disease Database). Leber's Optic Atrophy is a rare genetic disorder of the eye. This disorder is characterized by a slow loss of vision usually beginning around the second decade. Leber's Optic Atrophy is marked by slow degeneration of cells in the retina causing reduced vision or blindness. This disorder is inherited as an autosomal recessive trait. (For more information on this disorder choose "Lebers Optic Atrophy" as your search term in the Rare Disease Database). Macular Degeneration is a hereditary disorder of the eye. This progressive disorder is characterized by a gradual loss of vision usually in both eyes. The primary symptoms of Macular Degeneration include perception of unclear shapes and blind spots within the field of vision. (For more information on this disorder choose "Macular Degeneration" as your search term in the Rare Disease Database). Oguchi's Disease is also known as hereditary night-blindness and may be associated with vitamin A deficiency. This nonprogressive disorder occurs predominantly in Japan and usually begins in infancy. The main symptom of this disorder is limited vision in dim light. (For more information on this disorder choose "Leber's Optic Atrophy" as your search term in the Rare Disease Database). Retinitis Pigmentosa is an inherited disorder that causes degeneration of the retina. One of the earliest symptoms is difficulty seeing at night or in dimly lit places. This symptom is slowly followed by tunnel vision. The rate and extent of progression varies greatly. (For more information on this disorder choose "Retinitis Pigmentosa" as your search term in the Rare Disease Database). X-linked Juvenile Retinoschisis is a rare genetic disorder that affects males. The major symptoms are poor eyesight and degeneration of the retina. Often this disorder is associated with the development of cysts (saclike blisters) in the retina. Other symptoms may include detachment of all or part of the retina from the rest of the eye and wasting away of the choroid (the membrane between the white part of the eye and the retina). (For more information on this disorder choose Juvenile Retinoschisis as your search term in the Rare Disease Database). Therapies: Standard Diagnosis of Cone Dystrophy can be made by an ophthalmologist through various tests: An ERG (electroretinogram) may be used to indicate abnormalities in the retina. This device records the electrical impulses given off by the retina in response to light stimulus. An EOG (electro-oculography) may be performed in order to determine the function of the retina, especially the nerve cells that respond to stimulation from light. Routine care from an ophthalmologist is required. Visual aids may help as vision decreases. Eye glasses such as Corning 550 CPF are used to protect the eye from excess light. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Researchers at the Cullen Eye Institute of the Baylor College of Medicine in Houston, Texas are studying inherited retinal diseases. Families with at least two affected members and both parents living are needed to participate in this program. Dr. Richard Lewis M.D. 6501 Fannin Suite NC 206 Cullen Eye Institute, Baylor College of Medicine Houston, Texas 77030 (713) 798-3030 This disease entry is based upon medical information available through June 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203-746-6518 RP Foundation Fighting Blindness 1401 Mt. Royal Avenue, 4th Floor Baltimore, MD 21217 800-638-2300 301-255-9400 TDD 301-225-9409 Association for Macular Disease, Inc. 210 East 64th Street New York, NY 10021 (212) 605-3719 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 301-496-5248 For genetic information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 914-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor; Johns Hopkins University Press, 1990. Pp. 223, 829, 1109, 1580, 1581. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 1475-1476. CLINICAL OPHTHALMOLOGY, 2nd Ed.; Jack J. Kanski, Editor; Butterwor, 1990. Pp. 376-377. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. P. 204. AUTOSOMAL DOMINANTLY INHERITED MACULAR DYSTROPHY WITH PREFERENTIAL SHORT- WAVELENGTH SENSITIVE CONE INVOLVEMENT: G.H. Bresnick et al.; Am J Ophthalmol (1989: issue 108(3)). Pp. 265-76. THE GOLDEN TAPETAL SHEEN REFLEX IN RETINAL DISEASE: K.G. Noble et al.; Am J Ophthalmol (1989: issue 107(3)). Pp. 211-7. PROGRESSIVE PERIPHERAL CONE DYSFUNCTION: K.G. Noble et al.; Am J Ophthalmol (1988: issue 106(5)). Pp. 557-60. CONE DYSTROPHY. PHENOTYPIC DIVERSITY BY RETINAL FUNCTION TESTING: K. Yagasaki et al.; Arch Ophthalmol (1989: issue 107(5)). Pp. 701-8. Cone Dystrophy=- @-pagetitle 847: Cone Dystrophy 03621.TXT @$.$Copyright (C) 1991 National Organization for Rare Disorders, Inc. 863: Conjunctivitis, Ligneous _________________________ ** IMPORTANT ** It is possible the main title of the article (Ligneous Conjunctivitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Information on the following diseases can be found in the Related Disorders section of this report: Conjunctivitis (Pink Eye) Sjogren Syndrome Vernal Keratoconjunctivitis General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ligneous Conjunctivitis is a rare disorder that is characterized by recurrent lesions of the mucous membranes, especially in the eye. This disorder usually presents itself during childhood and may also be found in the mucous membranes of the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix, and gingiva. The lesions in the mucous membranes have a wood-like (ligneous) consistency to them and are thick, firm, knotty and tough. The cause of this disorder is not known although there have been multiple cases of siblings with this condition suggesting an autosomal recessive inheritance. Symptoms The symptoms of Ligneous Conjunctivitis are redness of the membranes in the eye (conjunctivae), tearing of the eye that develops slowly and persists for a long periods of time, a false thin layer of tissue that covers the membranes of the eye (pseudomembranes) on and near the eyelids, and lesions of the mucous membranes that develop into tough, thick, firm, knotty masses replacing the normal mucous membranes. The changes in the mucous membranes have a wood-like (ligneous) consistency. These symptoms may be found in one or both eyes. Some patients with this disorder may also have wood-like lesions and inflammation of the mucous membranes in the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix and/or gingiva. Ligneous Conjunctivitis has resolved itself spontaneously in some patients. An unusually large head caused by the abnormal dilation of the ventricles in the brain and the obstruction of the spinal fluid passages of the central nervous system (hydrocephalus), swelling of the trachea and bronchi (tracheobronchitis), respiratory problems (especially pneumonia), and airway obstruction due to recurrent growth of ligneous membranes have been found in association with this disorder in some patients. Causes The exact cause of Ligneous Conjunctivitis is not known. It may be an autoimmune disease which occurs when the body's natural defenses (e.g., antibodies and lymphocytes) attack normal tissue for unknown reasons. Multiple cases of this disorder have occurred within the same family suggesting an autosomal recessive inheritance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Ligneous Conjunctivitis appears to affect males and females in equal numbers. This disorder usually appears during childhood, although it has presented itself in patients of all ages. There have been less than 100 reported cases in the medical literature with approximately 50 of them being well documented. Many cases of Ligneous Conjunctivitis have been observed in the country of Turkey. Related Disorders Symptoms of the following disorders can be similar to those of Ligneous Conjunctivitis. Comparisons may be useful for a differential diagnosis: Conjunctivitis, or "Pink Eye", is a common disorder caused by an infection of the outer lining of the eye and eyelids from bacteria or viruses. The eye becomes red and irritated with a sandy or burning feeling. The disease may follow a cold or sore throat, and is most common in children. Sticky pus is visible in the eye and can cause the eyelids to stick together. Pink Eye is highly contagious. Sjogren Syndrome is a degeneration of the mucous secreting glands, particularly the tear and saliva glands. There is a decreased production of tears and saliva because the glands that produce these secretions are destroyed. Patients complain of irritation, a gritty feeling, or painful burning in the eyes. Eyelids may stick together. Other patients may complain of mouth dryness. Food is difficult to swallow because it sticks to the cheeks, gum and throat. The exact cause of this disorder is not known although Sjogren Syndrome is known to be familial and may be inherited. (For more information on this disorder choose "Sjogren" as your search term in the Rare Disease Database). Vernal Keratoconjunctivitis is a common noncontagious, seasonal allergic disorder usually occuring during the spring or warm weather. Major symptoms include inflammation of the conjunctiva of the eye, sensitivity to light, intense itching, and thick mucous discharge from the eyes. Vernal Keratoconjunctivitis is caused by a hypersensitivity or allergic reaction of the eyes to airborne allergens. (For more information on this disorder choose" Keratoconjunctivitis" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Ligneous Conjunctivitis is not always completely successful. The topical use of hyaluronidase and chymotrypsin before removing the affected membranes, as well as without removal of the affected membranes, has been successful in some patients. Repeated surgical stripping of the affected membranes often results in reoccurence unless the area is also treated with a topical ointment. Frequent treatment with topical cyclosporine has completely resolved the membrous problems in some, and slowed the recurrences in others. A ophthalmologic form of cyclosporine is being developed by Sandoz Pharmaceuticals. It has been found that surgical stripping of the affected membranes, when located in the trachea, is best accomplished when the anesthesia is given with a mask. This procedure eliminates the problem of the membranes becoming dislodged and obstructing the airways. Genetic counseling may be of benefit for patients and their families in cases where there is a history of this disorder among family members. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through July 1991. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203-746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 301-496-5248 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 914-428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1990. Pp. 1109. LIGNEOUS TRACHEOBRONCHITIS: AN UNUSUAL CASE OF AIRWAY OBSTRUCTION: M.F. Babcock, et al.; Anesthesiology (November, 1987, issue 67(5)). Pp. 819-21. LIGNEOUS CONJUNCTIVITIS: AN AUTOSOMAL RECESSIVE DISORDER: J.B. Bateman M.D., et al.; Journal of Pediatric Ophthalmology & Strabismus (May/June, 1986, issue 23(3)). Pp. 137-40. IMMUNOHISTOLOGIC FINDINGS AND RESULTS OF TREATMENT WITH CYCLOSPORINE IN LIGNEOUS CONJUNCTIVITIS: E.J. Holland M.D., et al.; American Journal of Ophthalmology (February, 1989, issue 107)). Pp. 160-66. LIGENOUS CONJUNCTIVITIS WITH TRACHEAL OBSTRUCTION: A CASE REPORT, WITH LIGHT AND ELECTRON MICROSCOPY FINDINGS: T.J. Cooper, M.D., et al.; Canad J Ophthal (1979, issue 14(57)). Pp. 57-62. LIGNEOUS CONJUNCTIVITIS. A CLINICOPATHOLOGIC STUDY OF 17 CASES. A.A. Hidayat et al.; Ophthalmology (August, 1987, issue 94(8)). Pp. 949-59. Conjunctivitis, LigneousG% J%pagetitle 863: Conjunctivitis, Ligneous 03622.TXT Copyright (C) 1989 National Organization for Rare Disorders, Inc. 628: Conn Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of this article (Conn Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Aldosteronism, Primary Hyperaldosteronism, Primary Information on the following disorders can be found in the Related Disorders section of this report: Aldosteronism, Secondary Bartter Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Conn Syndrome is characterized by an increased level of the hormone aldosterone in the blood causing increased sodium levels in the blood. An increase in blood volume (hypervolemia), and a low potassium level (hypokalemic alkalosis) also occur. This disorder is characterized by periods of weakness, unusual sensations such as tingling and warmness, a transient paralysis, and muscle cramps. An increase in blood pressure (hypertension), excessive urination (polyuria), and excessive thirst (polydipsia) can also occur. Symptoms Conn Syndrome (Primary Hyperaldosteronism) is a rare metabolic endocrine disorder characterized by oversecretion of the hormone aldosterone. This hormone is produced by the adrenal glands. The disorder is caused by an abnormal growth (adenoma) in the cortex of the adrenal glands. Aldosterone causes salt (sodium or Na) retention and potassium (K) loss. In the kidneys, salivary and sweat glands, and in the cells of the mucous membranes in the intestines, aldosterone causes transfer of sodium in exchange for potassium and hydrogen. Aldosterone secretion is regulated by the renin-angiotensin mechanism in the kidneys and liver, and to a lesser extent by adrenocorticotropin hormone (ACTH). The sodium and water retention resulting from increased aldosterone secretion increases the blood volume and reduces renin secretion. Increased blood levels of sodium (hypernatremia), an increase in blood volume (hypervolemia), and low potassium (hypokalemic alkalosis), can cause periods of weakness, unusual sensations such as tingling and warmness, a transient paralysis, and muscle spasms. An increase in blood pressure (hypertension), kidney disease with excessive urination (polyuria), and excessive thirst (polydipsia) can also occur. With removal of the abnormal adrenal growth, remission usually occurs. Causes Conn Syndrome is caused by an abnormal growth or tumor (adenoma) in the adrenal glands. The exact cause of this growth is unknown. Related Disorders Symptoms of the following disorders can resemble those of Conn Syndrome. Comparisons may be useful for a differential diagnosis: Bartter Syndrome (Aldosteronism with Normal Blood Pressure) is a rare metabolic disorder which may involve the kidneys. It is characterized by an overproduction of the adrenal hormone aldosterone. Major symptoms may include mental retardation, slowed growth, weakness, dwarfism, excessive thirst and excessive urination. Vomiting, diarrhea, and weight loss may also occur. (For more information, choose "Bartter" as your search term in the Rare Disease Database.) Secondary Aldosteronism is a metabolic endocrine disorder characterized by increased production of aldosterone by the cortex of the adrenal glands caused by stimuli originating outside the adrenal glands. It is similar to Conn Syndrome and related to high blood pressure (hypertension) and disorders with fluid retention and/or swelling (edema) such as heart failure and cirrhosis of the liver with fluid in the abdomen (kidney syndrome). It is believed to be caused by excessive secretion of the enzyme renin, secondary to constriction of the blood vessels in the kidney. This syndrome also occurs as a symptom of other kidney disorders. Conn Syndrome is not marked by the decreased salt (sodium) levels and increased plasma-renin activity as is Secondary Aldosteronism. Therapies: Standard Treatment of Conn Syndrome consists in surgical removal of the adrenal tumor that causes the symptoms. Additional therapy with the adrenocorticolytic drug, mitotane, may be helpful. Treatment with the aldosterone antagonist drug, spironolactone, and the diuretic antihypertensive drug, hydrochlorothiazide, may also be recommended. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Conn Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation, Inc. 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 NIH/National Heart, Lung, and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (302) 496-4236 References CLINICAL IMPLICATIONS OF PRIMARY ALDOSTERONISM WITH RESISTANT HYPERTENSION: E.L. Bravo, et al.; Hypertension (February 1988: issue 11(2 Pt 2). Pp. 1207-1211. PURE PRIMARY HYPERALDOSTERONISM DUE TO ADRENAL CORTICAL CARCINOMA: D.J. Greathouse, et al.; Amer Journal Med (June 1984: issue 76(6)). Pp. 1132-1136. AGING AND ALDOSTERONE: R. Hegstad, et al.; Amer Journal Med (March 1983: issue 74(3)). Pp. 442-448. ISOLATED CLINICAL SYNDROME OF PRIMARY ALDOSTERONISM IN FOUR PATIENTS WITH ADRENOCORTICAL CARCINOMA: D. Farge, et al.; Amer Journal Med (October 1987: issue 83(4)). Pp. 635-640. Conn Syndrome pagetitle 628: Conn Syndrome 03623.TXT Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 365: Conradi-Hunermann Syndrome _________________________ ** IMPORTANT ** It is possible the main title of the article (Conradi-Hunermann Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Chondrodysplasia Punctata Chondrodystrophia Calcificans Congenita Dysplasia Epiphysialis Punctata Conradi Disease Information on the following diseases can be found in the Related Disorders section of this report: Chondrodysplasia, Rhizomelic type Fetal Warfarin Syndrome Fairbanks Disease, also known as Multiple Epiphyseal Dysplasia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Conradi-Hunermann Syndrome is a form of Chondrodysplasia Punctata. It is a rare inherited disease affecting infants and young children. This disorder is marked by mild to moderate growth deficiencies and unusual facial characteristics. Large skin pores and sparse hair that tends to be coarse may also be symptomatic of this condition. Symptoms Conradi-Hunermann Syndrome is characterized by mild to moderate growth deficits in infants and young children. Unusual facial characteristics commonly occur. Children with this disorder usually have a shortened neck and slowed growth of arms or legs which occurs as a result of calcium buildup (calcification) at the ends of bones (epiphyses). In addition, spinal curvature (Scoliosis) may occur even in infancy. Joints may resist stretching or have a limitation of movement due to the buildup of fibrous tissue around them. Breakdown of skin cells may cause large pores resembling "orange peel" and sparse hair that tends to be coarse. Cataracts and yellow scaly skin (ichthyosis) may occur in some cases of Conradi-Hunermann Syndrome. Excess accumulation of fluid in body cavities or tissues, mental retardation and infections may also occur in a small percentage of cases. (For more information, choose "Ichthyosis" as your search term in the Rare Disease Database.) Causes Conradi-Hunermann Syndrome is inherited as an autosomal dominant trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Conradi-Hunermann Syndrome is present at birth and seems to affect males and females in equal numbers. It is very rare. Related Disorders Chondrodysplasia, Rhizomelic type is a form of Conradi-Hunermann Syndrome inherited as an autosomal recessive trait. Patients may be affected by heart irregularities, vision problems, spasticity and mental retardation. The hip and shoulder joints are affected by accumulations of calcium (calcifications) which are linked to growth limitations. Patients may have unusual facial characteristics. Recurrent infections are common with this disorder. Fetal Warfarin Syndrome involves altered fetal development. This disorder results from a woman taking the drug Warfarin (an anticoagulant) during pregnancy. Symptoms are similar to those of Conradi-Hunermann Syndrome and include growth deficits, unusual facial characteristics, mental retardation and recurrent infections. Fairbanks Disease (Multiple Epiphyseal Dysplasia) is a mild form of dwarfism inherited as a dominant trait. Symptoms may not be apparent during early childhood, but pain may occur later in hips, knees or ankles due to developmental abnormalities of bones. Stature may be only slightly shortened while arms, legs, fingers or toes may be unusually short. In some cases, movement may be somewhat restricted. (For more information on this disorder, choose "Fairbanks" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Conradi-Hunermann Syndrome is symptomatic and supportive. Orthopedic surgery may be helpful in alleviating problems associated with bone growth abnormalities. Vision problems may also be treated surgically or with corrective lenses. Skin symptoms should be treated by a dermatologist. Genetic counseling may be of benefit to families with children who have Conradi-Hunermann Syndrome. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Conradi-Hunermann Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasias St. Joseph Hospital 7620 York Rd. Towson, MD 21204 (301) 337-1250 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF For more information on Scoliosis, please contact: The National Scoliosis Foundation, Inc. 72 Mount Auburn St. Watertown, MA 02172 (617) 926-0397 For More Information on Ichthyosis, please contact: National Ichthyosis Foundation P.O. Box 252 Belmont, CA 94002 (415) 591-1653 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CLINICAL AND GENETIC ASPECTS OF CONRADI-HUNERMANN DISEASE. A REPORT OF THREE FAMILIAL CASES AND REVIEW OF THE LITERATURE: M.C. Silengo, et. al.; J Pediatr (Dec. 1980, issue 97(6)). Pp. 911-917. ULTRASTRUCTURAL ASPECTS OF CHONDRODYSTROPHIA CALCIFICANS CONGENITA (SYNDROME OF CONRADI-HUNERMANN): E. Bonucci, et. al.; Virchows Arch [Pathol Anat] (Feb. 18, 1977, issue 373(1)). Pp. 23-35. CHONDRODYSPLASIA PUNCTATA. CONRADI-HUNERMANN SYNDROME: D.V. Edidin, et. al.; Arch Dermatol (Oct. 1977, issue 113(10)). Pp. 1431-1434. Conradi-Hunermann Syndrome pagetitle 365: Conradi-Hunermann Syndrome 03624.TXT Copyright (C) 1990 National Organization for Rare Disorders, Inc. 690: Conversion Disorder _________________________ ** IMPORTANT ** It is possible that the main title of the article (Conversion Disorder) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hysterical Neurosis, Conversion Type Information on the following diseases can be found in the Related Disorders section of this report: Somatization Disorder Hypochondria General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Conversion disorder is a mental illness characterized by the loss or alteration of physical functioning without any physiological reason. These physical symptoms are the result of emotional conflicts or needs. The symptoms usually appear suddenly and at times of extreme psychological stress. A lack of concern over the debilitating symptoms (la belle indifference) distinguishes this mental illness from other physiological disorders. Symptoms An individual with a conversion disorder usually exhibits only one symptom. However, if episodes reoccur the symptom may appear in a different location or with varying severity. The most common symptoms of conversion disorder are those that are usually associated with neurological disease. These include paralysis, a loss of voice (aphonia), disturbances in coordination, impaired or jerky movements, temporary blindness, tunnel vision, a loss of the sense of smell (anosmia) or touch (anesthesia), or a tingling sensation to the skin (parensthesia). Psychiatrists believe that conversion disorder symptoms may be symbolic resolutions to psychological conflicts. For example, vomiting may represent revulsion and disgust, or blindness the inability to accept the witnessing of a traumatic event. It is important that physiological diseases be ruled out before a diagnosis of conversion disorder can be made. Causes Conversion disorder is caused by an inner conflict that creates extreme psychological stress. The conversion symptoms represent a partial solution to conflict. A soldier who subconsciously wishes to avoid firing a gun may develop a paralyzed hand, or a person who wishes to prevent desertion by a spouse may suddenly become unable to walk. An episode of conversion disorder usually appears and disappears suddenly. Other disorders must be ruled out because symptoms of many neurological diseases often wax and wane without apparent reason. Affected Population There are no statistics available on whether conversion disorder affects men or women to a greater degree. Although conversion disorder is extremely rare, it appears to occur more frequently in individuals with previous physical disorders, and in individuals who are exposed to people with real physical symptoms. Conversion disorder was much more common several decades ago than it is today. Most known cases have appeared in military settings, particularly during wartime. One particular symptom, a lump in the throat that interferes with swallowing (globus hystericus), is more common in females. Related Disorders Symptoms of the following disorders can be similar to those of conversion disorder. Comparisons may be useful for a differential diagnosis: Somatization Disorder is a psychological disorder characterized by frequent and numerous physical complaints that are not due to any physical disorder. The disorder begins before the age of 30 and complaints are usually vague, dramatic and exaggerated. The patient is usually found to be under the care of several physicians simultaneously. Hypochondria is a psychological disorder in which there is a preoccupation with having a serious disease without any physical disorder. This fear continues despite medical reassurance that there is no physical problem. Neurological disorders that can cause similar waxing and waning symptoms, but have a physiological basis include multiple sclerosis, Tourette syndrome, Wilson's disease, demyelinating polyneuropathy, and many, many more disorders affecting the central nervous system. Therapies: Standard Treatment of conversion disorder varies with the individual. Psychoanalysis, family therapy, or specific life changes such as a job change or homemaking assistance may all be helpful. Hypnosis may remove specific symptoms, but a substitute symptom often arises. Certain symptoms may disappear with the use of antidepressant and antipsychotic drugs. The conversion symptom of temporary paralysis may be treated by electromyographic (EMG) biofeedback. Therapies: Investigational This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Conversion Disorder, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Mental Health Association 1021 Prince St. Alexandria, VA 22314 National Alliance for the Mentally Ill 1901 N. Fort Meyer Dr., Suite 500 Arlington, VA 22209 (703) 524-7600 National Mental Health Consumer Self-Help Clearinghouse 311 S. Juniper St., Rm. 902 Philadelphia, PA 19107 (215) 735-2481 NIH/National Institute of Mental Health (NIMH) 9000 Rockville Pike Bethesda, MD 20205 (301) 443-4515 or (301) 496-1752 (800) 421-4211 (24 hrs.) References DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS, 3d.: R.L. Spitzer, et al., eds; American Psychiatric Association, 1984. Pp. 257-259. THE MERCK MANUAL, Volume 2, 14th Ed.: Robert Berkow, M.D. ed.-in-chief; Merck Sharp & Dohme Laboratories, 1982. Pp. 952-953. GLOBUS HYSTERICUS SYNDROME RESPONSIVENESS TO ANTIDEPRESSANTS. I.H. Bangash et al.; AM J PSYCHIATRY 1986 Jul: 143(7):917-918. THE UTILITY OF ELECTROMYOGRAPHIC BIOFEEDBACK IN THE TREATMENT OF CONVERSION PARALYSIS. D.A. Fishbain et al.; AM J PSYCHIATRY 1988 Dec: 145(12):1572-5. Conversion Disorder chthG pagetitle 690: Conversion Disorder 03625.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 137: Cor Biloculare _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cor Biloculare) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Atrial-Ventricular Septal Defect General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Cor biloculare is a form of congenital heart defect. The normal human heart has two chambers separated from each other by a partition called the atrial septum, and two other chambers, the ventricles, also separated by a septum. Valves connect the atria (left and right) to their respective ventricles. In cor biloculare, these septa fail to develop properly. The heart has a single atrium and a single ventricle, with a single valve connecting the two. The body tissues receive reduced amounts of oxygen, and the lungs fail to function properly due to excessively high blood pressure in the pulmonary circulation. If untreated, potentially fatal congestive heart failure, characterized by generalized swelling, great difficulty in breathing, and rapid heartbeat may result. About half the cases of cor biloculare are associated with Down's Syndrome (mongoloidism). (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database.) Although this is a severe heart defect, some untreated patients may survive into adulthood; most, however, eventually undergo corrective surgery. Please see the articles on atrial septal defects and ventricular septal defects in the Rare Disease Database for more information on the workings of the normal heart and the consequences of septal defects. Symptoms Patients with cor biloculare have only two heart chambers instead of the usual four, as described above. This causes inefficient pumping of the blood both through the lungs and through the arteries to the rest of the body, and damage to the lungs. Congestive heart failure may gradually develop during infancy, with accumulation of fluid in the lungs and other tissues, difficulty breathing, and generalized swelling. Initial indications of this condition include poor feeding and somnolence, rapid breathing and rapid heartbeat. In addition, freshly oxygenated blood from the lungs mixes with "spent", venous, blood in the heart; this mixture then is pumped to the body tissues, carrying barely adequate amounts of oxygen. For this reason, the tissues look pale or bluish (cyanosis). Occasionally, there may be "hypoxic spells", when the blood cannot supply enough oxygen, with possible breathlessness, fainting, limpness, coma, or convulsions. Patients with this disorder are likely to have frequent pneumonias and bronchitis, which in turn can precipitate heart failure. They are also at risk for embolisms or thrombosis (blockage of blood vessels by blood clots), brain abscesses, and bacterial infections of the inner lining of the heart. The electrocardiogram in cor biloculare is typical and therefore useful in making a diagnosis. Heart murmurs are also present. Causes Various factors may result in congenital heart disease such as cor biloculare. They include environmental influences such as infections or drugs taken during pregnancy, and maternal diseases, such as diabetes or systemic lupus erythematosus. Genetic predispositions also can be significant, especially when combined with environmental effects. Heart defects are especially common in persons with chromosomal aberrations, particularly Down's syndrome. Affected Population About half the cases of cor biloculare occur in children with Down's Syndrome. Related Disorders Cor biloculare is one of many possible congenital heart defects. Most closely related are atrial and ventricular septal defects. Cor triloculare biatriatum consists of the presence of three heart chambers, two atria and one ventricle (i.e., the ventricular septum fails to develop). In cor triloculare biventricularis, there are two ventricles but only one large atrium. For more information, choose "atrial septal" and "biloculare" as your search terms in the Rare Disease Database. Therapies: Standard Infants with cor biloculare should be referred to a hospital able to perform sophisticated diagnostic and cardiovascular surgical procedures. Echocardiography is especially useful in diagnosis. Open heart surgery will probably be indicated, although it is not always successful. Operations performed before the age of one year are usually the most successful. Before surgery is performed, congestive heart failure must be managed in other ways. These include reducing fluid volume with diuretics, reduction of salt intake, and the administration of digitalis to increase the strength and decrease the rate of the heart. Oxygen therapy may also be beneficial. Because patients are susceptible to endocarditis (infection of the inner lining if the heart), they are given antibiotics after tooth extractions and surgery to prevent potentially dangerous infections. Similarly, respiratory infections are treated vigorously and early. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cor Biloculare, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung, and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 421-8453 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 National Down Syndrome Society 70 West 40th Street New York, NY 10018 (212) 764-3070 (800) 221-4602 (toll free number) National Down Syndrome Congress 1640 West Roosevelt Road Chicago, IL 60608 (312) 226-0416 (800) 446-3835 (toll free number) For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 Cor Biloculare pagetitle 137: Cor Biloculare 03626.TXT Copyright (C) 1986 National Organization for Rare Disorders, Inc. 136: Cor Triatriatum _________________________ ** IMPORTANT ** It is possible that the main title of the article (Cor Triatriatum) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonym Triatrial Heart General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Cor triatriatum is a form of congenital heart defect. The normal human heart has two chambers called atria, separated from each other by a partition called the atrial septum, and two other chambers, the ventricles, also separated by a septum. Valves connect the atria to their respective ventricles. In cor triatriatum, due to a problem in embryonic development, there is an extra, small chamber above the left atrium, separated from it by a membrane with an opening to the atrium proper. The pulmonary veins, returning from the lungs, drain into this "third atrium", which slows passage of blood to the left atrium and ventricle, simulating obstruction of the valve between the left atrium and ventricle. Features of congestive heart failure may eventually develop. The condition is extremely rare. Symptoms Approximately one half of infants born with this condition die soon after birth. Survival depends on the size of the opening between the extra chamber, and the left atrium proper. In survivors and initially asymptomatic patients, the heart progressively enlarges, and eventually congestive heart failure can develop. There is generalized fluid retention and swelling as the heart is unable to force sufficient amounts of blood through the arteries, an inability to breathe, poor oxygen supply to the tissues, and rapid heartbeat. Untreated, this condition may become life threatening. Patients with congenital heart disease are likely to have frequent pneumonias and bronchitis, which in turn can precipitate heart failure. They are also at risk for embolism or thrombosis (blockage of blood vessels by blood clots or bubbles), brain abscesses, and bacterial infections of the inner lining of the heart. The electro-cardiographic readings in cor triatriatum are characteristic; they are useful in making a diagnosis. Heart murmurs and diagnostic heart sounds are also present. Causes Various factors may result in congenital heart disease such as cor triatriatum. They include environmental influences such as infections or drugs taken during pregnancy, and maternal disease, such as diabetes or systemic lupus erythematosus. Genetic predispositions may also play a role, especially combined with environmental effects. Heart defects are common in persons with chromosomal aberrations, particularly Down's syndrome. Related Disorders Cor triatriatum simulates mitral valve stenosis (obstruction). Therapies: Standard Infants with cor triatriatum should be referred to a hospital able to perform sophisticated diagnostic and cardiovascular surgical procedures. Echocardiography is especially useful in diagnosis. Open heart surgery will probably be needed eventually; most successful operations are performed before the age of one year. Before surgery is finally performed, congestive heart failure must be managed. This includes reducing fluid volume with diuretics, reduction of salt intake, and the administration of digitalis to increase the strength and decrease the rate of the heart contractions. Oxygen may also be beneficial. Because patients are susceptible to endocarditis (infection of the inner lining if the heart), they are given antibiotics after tooth extractions and surgery to prevent potentially dangerous infections. Similarly, respiratory infections are treated vigorously, and early if possible. Therapies: Investigational This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cor Triatriatum, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Heart Association 7320 Greenville Ave. Dallas, TX 75231 (214) 750-5300 NIH/National Heart, Lung, and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 421-8453 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 Cor Triatriatum Si# pagetitle 136: Cor Triatriatum 03627.TXT :Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 455: Corneal Dystrophy _________________________ ** IMPORTANT ** It is possible the main title of the article (Corneal Dystrophy) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Cornea Dystrophy There are many different types of Corneal Dystrophy. This report contains information on the following specific Corneal Dystrophies: Endothelial Corneal Dystrophy, Congenital (Congenital Hereditary Corneal Dystrophy; Maumenee Corneal Dystrophy) Crystalline Corneal Dystrophy of Schnyder Endothelial Epithelial Corneal Dystrophy (Fuchs Dystrophy) Epithelial Basement Membrane Corneal Dystrophy (Cogan Corneal Dystrophy; Map-Dot-Fingerprint Type Corneal Dystrophy; Microcystic Corneal Dystrophy; Anterior Membrane Corneal Dystrophy) Epithelial Corneal Dystrophy of Meesmann, Juvenile Francois-Neetens Speckled or Flecked Corneal Dystrophy Granular Type Corneal Dystrophy (Groenouw Type I Corneal Dystrophy) Lattice Corneal Dystrophy (Biber-Haab-Dimmer Corneal Dystrophy) Lipoid Corneal Dystrophy Macular Type Corneal Dystrophy (Groenouw Type II Corneal Dystrophy) Marginal Corneal Dystrophy (Terrien Corneal Dystrophy) Polymorphous (Posterior) Corneal Dystrophy, Hereditary Reis-Bucklers Corneal Dystrophy Salzmann Nodular Corneal Dystrophy (Nodular Cornea Degeneration) Stromal Corneal Dystrophy Information on the following disease may be found in the Related Disorders section of this report: Recurrent Cornea Erosion General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Corneal Dystrophies are disorders affecting the outer clear layer of the eyeball known as the cornea. They are caused by faulty metabolism in the tissues in and around the eye. Clarity of vision is usually impaired by clouding of the cornea. Symptoms The main symptom of Corneal Dystrophy is usually vision impairment. Eye irritation may also occur. The cornea consists of five layers, from the outside inward they are epithelium, Bowman membrane, stroma, Descemet membrane, and endothelium. Any or all of these layers may be affected by corneal dystrophy. Congenital Endothelial Corneal Dystrophy (Congenital Hereditary Corneal Dystrophy; Maumenee Corneal Dystrophy) is characterized by relatively clear vision although corneal clouding may be detected by an eye specialist. Crystalline Corneal Dystrophy of Schnyder (which begins early in life) is characterized by oval or ring-form clouding of the central part of the cornea with the edges remaining clear. Involvement extends toward the extreme edges (limbus) but usually leaves a clear ring inside this area. Corneal sensitivity to touch is normal. Many small iridescent needle-shaped shiny crystals can be seen in the clouded area. These crystals are composed of cholesterol. The clouding is located in the front portion of the third layer (stroma) just behind the Bowman membrane. The front layer (epithelium) is normal. The lesions usually occur in both eyes. Endothelial Epithelial Corneal Dystrophy (Fuchs Dystrophy) is characterized by blurred vision, oversensitivity to light (photophobia), and eye pain. Acute attacks of inflammation of the cornea (keratitis fugax hereditaria) may occur between 2 to 8 times a year. Corneal erosion and ulcerations may also occur and recur. Epithelial Basement Membrane Corneal Dystrophy (Cogan Corneal Dystrophy; Map-Dot-Fingerprint Type Corneal Dystrophy; Microcystic Corneal Dystrophy) is characterized by gray coarse lines (maps or fingerprints) in the outermost layer that cause errors in refraction in the eye. Microscopic cysts are found upon ophthalmologic examination. Juvenile Epithelial Corneal Dystrophy of Meesmann is a genetic form of Corneal Dystrophy. This disorder usually appears during the first year or two of life, beginning with symptoms of eye irritation. Microscopic corneal changes appear consisting of myriads of fine pinpoint cloudy spots in the outer corneal layer (epithelium), and occasionally in the second layer (Bowman membrane). Vision is rarely impaired to a serious degree. Francois-Neetens Speckled, or Flecked Corneal Dystrophy, is characterized by scattered tiny white flecks occurring at all levels of the third corneal layer (stroma) in semicircular, wreath-like, or point-shaped patterns. Granular Type Corneal Dystrophy (Groenouw Type I Corneal Dystrophy) is characterized by grainy changes in the cells in the third corneal layer (stroma). The clouding consists of grayish white granules with sharp borders, mainly appearing in a disc-shaped area in the center of the cornea. The edges of this shape and the cornea between granules is usually clear. Glassy and transparent (hyaline) material separates the outer layer (epithelium) from the Bowman membrane. Clear vision is usually maintained during childhood in patients with this type of corneal dystrophy. Lattice Type Corneal Dystrophy (Biber-Haab-Dimmer Corneal Dystrophy) is a genetic form of Corneal Dystrophy. It is characterized by a "ground-glass" appearance with grayish lines resembling cotton threads that are mainly limited to a zone between the center of the cornea and the edges, and usually not extending to the outer edge (limbus). Rounded dots with distinct borders are scattered everywhere in the cornea. The cornea between cloudy spots is relatively clear. Vision is usually normal during childhood. The microscopic changes particularly involve the central portion of the cornea. During adolescence, deposits that form a net-like pattern in the third corneal layer (stroma) appear. Recurrent corneal ulceration sometimes occurs. Progression to severe visual impairment by the fifth or sixth decade of life often occurs. Lipoid Corneal Dystrophy is a Corneal Dystrophy of unknown cause characterized by haziness and thickness of the cornea, usually in the central zone. Fatty (lipoid) material is deposited within the stroma layer of the cornea. The Bowman membrane becomes replaced with white blood cells that normally destroy foreign material and abnormal cells (macrophages). The outer cornea layer (epithelium) eventually becomes thicker. Vision impairment is slowly progressive. Macular Corneal Dystrophy (Groenouw Type II Corneal Dystrophy) is a genetic type of Corneal Dystrophy. Onset of this progressive disorder is usually between the ages of 5 and 9. Tiny gray, pinpoint cloudy spots develop. Corneal sensitivity is usually lower than normal. Painful attacks with oversensitivity to light (photophobia), sensations of foreign bodies inside the eyelid, and recurrent erosion of the cornea occur in most patients. This may be a localized disorder associated with other metabolic disorders involving certain carbohydrates (mucopolysaccharides). Marginal Corneal Dystrophy (Terrien Corneal Dystrophy) is a Corneal Dystrophy of unknown cause. Symptoms usually begin between the ages of 30 and 40. The disorder is more common in males than in females. It is characterized by recurrent irritation of the eyes. The stroma layer of the cornea is replaced by loose connective tissue and the cornea gradually grows thinner, usually at the upper edge. The layer of the cornea called Descemet membrane may start bulging forward, and the Bowman membrane may degenerate. This disorder is slowly progressive. The iris may protrude through a perforation of the cornea. Hereditary Polymorphous Posterior Corneal Dystrophy is characterized by small empty spaces (vacuoles) in the back part of the cornea. Vision is usually not impaired, and blindness is rare. This corneal deficiency may also be associated with glaucoma, obesity, and wide spacing of teeth. Reis-Bucklers (Buecklers) Corneal Dystrophy is a genetic form of corneal dystrophy. Symptoms usually start before age 2, may recur 2 to 3 times per year, and gradually subside after the second or third decade of life. The disorder is characterized by recurrent epithelial erosions in both eyes causing attacks of acute pain, lasting from one to three weeks. Oversensitivity to light (photophobia) may also be present. In the region of the Bowman membrane, gray-white clouding may occur symmetrically in both eyes, forming a delicate ring-pattern resembling curdled milk. To the examining physician the cornea resembles frosted glass. The corneal clouding appears denser in children than in adults. The attacks gradually become less frequent, usually ceasing completely with or without treatment. However, vision progressively deteriorates throughout life. Salzmann Nodular Corneal Dystrophy (Nodular Cornea Degeneration) is characterized by vision impairment and eye irritation. Corneal infiltration with small blood vessels, and degeneration of the cornea may occur. The three outermost layers (stroma, Bowman membrane and epithelium) may be involved. Bluish-white nodules appear in the outer layer of the stroma and Bowman membrane, and may possibly appear in chains interspersed among blood vessels. The disorder usually occurs in persons with a history of other corneal disease, such as inflammation or infection of the cornea and conjunctiva. Stromal Corneal Dystrophy is a term that includes the Granular, Macular, and Lattice (Reticular) Corneal Dystrophies described above which occur in the stroma layer of the cornea. Causes The following types of Corneal Dystrophy have no known cause: Lipoid Corneal Dystrophy, and Marginal Corneal Dystrophy (Terrien Corneal Dystrophy). Congenital Endothelial Corneal Dystrophy (CD), and Macular Type CD are inherited through autosomal recessive genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Crystalline CD of Schnyder, Endothelial Epithelial CD (Fuchs Dystrophy), Epithelial Basement Membrane CD (Cogan CD; Map-Dot-Fingerprint Type CD; Microcystic CD), Francois-Neetens Speckled or Flecked CD, Granular Type CD (Groenouw Type I CD), Juvenile Epithelial CD of Meesmann, Lattice CD (Biber-Haab-Dimmer CD), Polymorphous (Posterior) CD, and Reis-Bucklers (Buecklers) Corneal Dystrophy are all inherited through autosomal dominant genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Salzmann Nodular CD (Nodular CD) is usually caused by other cornea diseases such as leukoma, staphyloma, phlyctenular keratitis or pannus. Affected Population Corneal Dystrophies may affect persons of all ages. Both sexes may be affected in equal numbers. Related Disorders Corneal Dystrophy may be a secondary characteristic associated with the following disorder. Recurrent Cornea Erosion is caused by an abrasion of the cornea. It is characterized by pain in the eye, episodes of excessive tearing on awakening in the morning (which increases with movement of the eyelid), and oversensitivity to light (photophobia). The eye tries to heal itself by growing a new epithelium which is loosely attached to the Bowman membrane. The epithelium may become detached as the eyelid opens and consequently the eyelid may adhere to the cornea. Growth of little sacs (vesicles), redness and inflammation of the eye may also occur. Some types of corneal dystrophy may occur as a consequence of cornea erosion. Therapies: Standard Corneal Dystrophies can often be successfully treated by surgically transplanting a healthy cornea from a deceased human donor. People with healthy eyes are encouraged to donate corneal tissue in the (to be removed at the time of death) so that patients with corneal dystrophy can be offered normal sight. Therapies: Investigational This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Cornea Dystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 Eye Bank Association of America 1511 K Street NW, Suite 830 Washington, DC 20005-1401 (301) 628-4280 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE EFFECT OF EPIDERMAL GROWTH FACTOR ON EPITHELIAL HEALING AFTER PENETRATING KERATOPLASTY IN HUMAN EYES: A.S. Kandarakis, et al.; American Journal Ophthalmol (October 15, 1984: issue 98(4)). Pp. 411-415. RECURRENCE OF THE CLINICAL SIGNS OF LATTICE CORNEAL DYSTROPHY (TYPE I) IN CORNEAL TRANSPLANTS: D.M. Meisler, et al.; American Journal Ophthalmol (February 1984: issue 97(2)). Pp. 210-214. OPTOMETRIC MANAGEMENT OF FUCHS'S ENDOTHELIAL DYSTROPHY: R.G. Carden; American Journal Optom Physiol (September 1978: issue 55(9)). Pp. 642-646. Corneal Dystrophy 0>pagetitle 53: Alpha-1-Antitrypsin Deficiency 03445.TXT @:/:Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 592: Alport Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Alport Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Hereditary Nephritis Nephritis and Nerve Deafness, Hereditary Nephropathy and Deafness, Hereditary Epstein Syndrome Disorder Subdivisions: Type I Alport Syndrome Type II Alport Syndrome Type III Alport Syndrome Type IV Alport Syndrome Type V Alport Syndrome (Epstein syndrome) Type VI Alport Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Chronic Renal Failure Benign Essential Hematuria Fabry Disease Medullary Cystic Disease Glomerulonephritis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Alport Syndrome is a group of hereditary kidney disorders. They are characterized by progressive deterioration of the glomerular basement membranes (GBM's) which are microscopic parts of the kidney. This deterioration may lead to chronic renal (kidney) failure causing excess waste products in the blood (uremia). Eventually severe renal failure (end-stage renal disease or ESRD) may develop. Uremia and kidney failure may cause heart and bone problems. Some types of Alport Syndrome also affect vision and hearing. Symptoms The kidney (renal) malfunction that is characteristic of Alport Syndrome causes the loss of red blood cells and blood plasma proteins in the urine (hematuria, proteinuria). Bleeding into the glomerulus causes material (including various elements of the blood) to be excreted into the urine. Other symptoms may occur in Alport patients when chronic renal failure, uremia, or end-stage renal disease occurs. Symptoms of chronic renal failure begin gradually when the functioning nephrons (basic unit of the kidney consisting of the glomerulus and associated structures) can no longer compensate for the non-functioning nephrons. Renal bone disease may occur as a result of renal failure. This can cause abnormalities of bone, calcium, phosphorus, and vitamin D metabolism, as well as parathyroid hormone secretion which regulates calcium and phosphate levels in the blood. Uremia occurs when the kidneys fail to remove waste products from the blood. Upset stomach, which may vary from loss of appetite to severe pain, can occur along with nausea, vomiting of food and blood, weakness, fatigue, excessive need for sleep, and dry often itchy skin. Peculiar-smelling breath similar to urine, pale skin (pallor), shortness of breath, hypertension, fluid retention, and swelling (edema) may also occur. End-stage renal disease (ESRD) is the final stage in chronic renal failure when there is virtually no more functioning nephrons present. Patients with ESRD must depend upon hemodialysis machines to cleanse their blood of waste products. Abnormalities of the eye may occur in the juvenile forms of Alport Syndrome. The surface of the eye's lens may be cone-shaped (lenticonus) or spherical (spherophakia). The lens of the eye may be opaque or cloudy (cataracts). White dots may appear on the retina (retinal macular flecks or fundus albipunctatis). Children with Alport syndrome may be nearsighted (myopic). A disorder of blood platelets which help with clotting (Thrombocytopathia) may also occur in Type V Alport Syndrome. Some forms of Alport syndrome also include nerve or cochlear deafness (see Disorder Subdivision section). Alport Syndrome is classified according to three criteria: mode of inheritance, age, and features other than kidney abnormalities. 'Juvenile' forms are characterized by the occurrence of end-stage renal disease (ESRD) before the age of 31. In 'adult' forms, ESRD occurs after the age of 31. Type I Alport Syndrome is the dominantly inherited 'juvenile' form which includes kidney disease with nerve deafness and eye abnormalities. Type II Alport Syndrome is the X-linked dominant 'juvenile' form which includes kidney disease with nerve deafness and eye abnormalities. Type III Alport Syndrome is the X-linked dominant 'adult' form which includes kidney disease with nerve deafness. Type IV Alport Syndrome is the X-linked dominant 'adult' form with NO vision or hearing impairment. It is purely a kidney disease. Type V Alport syndrome is the autosomal dominant form with nerve deafness and thrombocytopathia (disorders of blood platelets). This type of Alport Syndrome is so rare that it has not yet been classified as a 'juvenile' or as an 'adult' form. In the few cases reported it appears that the incidence of ESRD in females may equal that of males. Type V is also called Epstein Syndrome. Type VI Alport Syndrome is the autosomal dominant 'juvenile' form which includes kidney disease with nerve deafness and eye abnormalities. Causes Alport Syndrome, depending on the type, may be inherited as an autosomal dominant trait or an X-linked dominant trait. It may also occur as a mutation without any family history of kidney disease. Hereditary traits including the classic genetic diseases are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe condition. Sometimes affected males die before birth so that only female patients survive. In the normal kidney, the basement membranes along with other tissues tightly hold the glomeruli (which are groups of capillaries that filter water and chemicals from the blood to become urine) together. Alport patients are born with basement membranes that are thin and weak. The basement membranes progressively deteriorate interfering with the normal filtering activity of the glomeruli. This may lead to chronic renal failure when the normal-functioning nephrons can no longer compensate for the non-functioning ones. Kidney symptoms are rarely perceived until 90 to 95 % of kidney function is lost. When the kidneys no longer remove waste products from the blood, uremia occurs and the patient must be maintained on hemodialysis. Affected Population Approximately 1 in 50,000 Americans carry the Alport Syndrome gene but not all of them get Alport Syndrome. Twice as many females carry the gene, but a higher percentage of males with the gene have symptoms of the syndrome. Nearly all males with the Alport Syndrome gene will show symptoms, and will eventually develop chronic renal failure and end-stage renal disease (ESRD) usually before age 50. Most gene-carrying females manifest the same symptoms, but progression and severity of the disease are generally less severe in females who have inherited the X-linked dominant form of the disorder. Roughly 20% of females with Alport Syndrome will experience ESRD, generally at advanced ages. A fraction of the females will have no symptoms at all. About 15 to 18% of newborns affected with Alport Syndrome have no family histories of kidney disease. In these cases a mutation of a gene may cause the syndrome. There appears to be no racial or geographic concentrations of Alport Syndrome. Related Disorders Symptoms of the following disorders can be similar to those of Alport Syndrome. Comparisons may be useful for a differential diagnosis: Chronic Renal Failure can be a complication of many kidney diseases or a symptom of a variety of diseases and conditions. It occurs gradually when the kidneys can no longer filter waste products from the blood. Urinating at night (nocturia), increased urination (polyuria), red blood cells and blood plasma proteins in the urine (hematuria, proteinuria), high blood pressure, and anemia may occur. Malaise, fatigue, loss of appetite (anorexia), shortness of breath, and bad breath (halitosis) may also occur. The skin may itch (pruritus) and bruise easily. There may be bleeding in the stomach or in the intestines. Symptoms of pseudogout or gout may occur: painful, inflamed joints, waste products around the joints and in the blood. Abnormal and possibly degenerative peripheral nerves may be present (peripheral neuropathy). (For more information about these disorders, choose "Pseudogout" or "Neuropathy" as your search term in the Rare Disease database.) Familial Benign Essential Hematuria is a hereditary non-progressive kidney disease that begins in childhood. Major symptoms may include red blood cells in the urine (hematuria), kidney function impairment, and hearing deficit. Blood plasma proteins in the urine (proteinuria) and certain abnormalities of the glomerular basement membranes characteristic of Alport Syndrome are not found. Fabry Disease (also called Anderson-Fabry Disease) is a metabolic disease causing accumulation of a certain enzyme in many tissues. Burning pain in the limbs and abnormal sensations in the peripheral parts of the body (hands, feet, ears, etc.) is common. Dark-blue, red, or black areas of skin (macules) turning into hard raised spots (papules) may appear in clusters on the skin of the lower trunk, thighs, and scrotum. Eye abnormalities, cerebrovascular disease (involving blood vessels in the brain), cardiovascular disease (involving blood vessels in the heart), and high blood pressure (hypertension) may occur. Kidney failure and ESRD may also occur. (For more information on this disorder, choose "Fabry" as your search term in the Rare Disease Database). Medullary Cystic Disease is a possibly genetic kidney disease usually affecting children or young adults. Excessive urination (polyuria) is commonly the earliest symptom. Acidity of the body tissue (acidosis) with or without high chloride in the blood (hyperchloremia) may be present. Retarded growth and bone disease may occur in affected children. Chronic renal failure and uremia may also occur. Protein in the urine (proteinuria) is minimal or absent. (For more information on this disorder, choose "Medullary Cystic Disease" as your search term in the Rare Disease Database.) Glomerulonephritis is a group of kidney diseases characterized by inflammatory changes in the glomeruli of the kidney. Hematuria, proteinuria, swelling of the face, scanty urination (oliguria), hypertension, nephrotic syndrome, and chronic renal failure may also occur. Therapies: Standard Chronic renal failure caused by Alport Syndrome must be treated vigorously. Renal function and certain components in the blood are regularly monitored. Fluid intake and diet, particularly salt and protein, may be restricted and regular medications prescribed. Control of blood pressure, prompt and aggressive treatment of urinary tract and ear infections is important. Hemodialysis may be used to treat chronic renal failure and ESRD. Dialysis involves removing blood from the patient's artery, cleansing it of unwanted substances that would normally be excreted in the urine, and returning the cleansed blood to a vein. Kidney transplantation is an alternative treatment. Because of the slight or inapparent disease in some female family members, great care must be taken in selecting living related kidney donors. In patients with hearing loss, it may stabilize after successful kidney transplantation. Transplantation of the eye's cornea or removal of the eye's lens may be helpful in patients with visual problems. Genetic counseling will be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Calcium Acetate is a new orphan drug being used in the treatment of hyperphosphatemia in end stage renal disease (ESRD). It is manufactured by Pharmedic Co., 130 Exmoor Ct., Deerfield, IL 60015. This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Alport Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Hereditary Nephritis Foundation P.O. Box 731 Blanding, UT 84511 (801) 678-3382 Alport Syndrome Study c/o Drs. C.L. Atkin and M.C. Gregory Department of Internal Medicine University of Utah Salt Lake City, UT 84132 (801) 581-6709 National Kidney and Urologic Disease Information Clearinghouse Box NKUDIC Bethesda, MD 20892 (301) 468-6345 National Kidney Foundation 2 Park Avenue New York, NY 10016 (212) 689-2210 (800) 622-9010 American Kidney Fund 6110 Executive Blvd., Suite 1010 Rockville, MD 20852 (301) 881-3052 (800) 638-8299 (800) 492-8361 (MD) For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References HEREDITARY NEPHROPATHIES: M.C. Gregory, et al.; In: Textbook of Internal Medicine. Lippincott, in press, 1988. Chapter 118. ALPORT SYNDROME: C.L. Atkins, et al.; In: Diseases of the Kidney, 4th ed.; Little, Brown & Co, 1988. Pp. 617-641. MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 37-38, 803, 1254-1255. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 762-783, 860, 876-879, 1006... Alport Syndrome osa,Q; T;pagetitle 592: Alport Syndrome 03446.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 431: Alveolitis, Extrinsic Allergic _________________________ ** IMPORTANT ** It is possible the main title of the article (Extrinsic Allergic Alveolitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Extrinsic Allergic Pneumonia Allergic Interstitial Pneumonitis Hypersensitivity Pneumonitis DISORDER SUBDIVISIONS Bagassosis Bathtub Refinisher's Lung Bird Breeder Disease Cheese Worker's Lung Enzyme Detergent Sensitivity Epoxy Resin Lung Farmer Lung Laboratory Technician's Lung Maltworker Lung Maple Bark Stripper Disease Mushroom Picker Disease Mushroom Worker's Lung Pituitary Snuff Taker's Lung Plastic Worker's Lung Poultry Raiser Disease Sequoiosis Suberosis Ventilation Pneumonitis Wheat Weevil Disease Information on the following diseases can be found in the Related Disorders section of this report: Asthma Fibrosing Alveolitis Sarcoidosis Desquamative Interstitial Pneumonia General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Extrinsic Allergic Alveolitis is a lung disorder resulting from repeated inhalation of organic dust, usually in a specific occupational setting. In the acute form, respiratory symptoms and fever start several hours after exposure to the dust. The chronic form is characterized by gradual changes in the lung tissue associated with several years of exposure to the irritant. Symptoms In general, symptoms of all forms of Extrinsic Allergic Alveolitis include breathing difficulty, wheezing, and dry coughs which appear to shake the entire body. Chills, sweating, aching, discomfort and/or fatigue may accompany lung symptoms. Most cases of this disorder are characterized by mild, short episodes which may be misdiagnosed. Chronic cases may develop with repeated episodes or prolonged exposure to a specific organic dust. These may involve more severe symptoms including fever, crackling sounds during breathing (rales), breathing difficulty, bluish appearance of the skin (cyanosis), and possibly, expectoration of blood. Causes Extrinsic Allergic Alveolitis is caused by repeated exposure to organic substances including a wide variety of those substances usually associated with specific occupational settings may be linked to this disorder. These may include irritants associated with birds (avian dust), cheese manufacturing (mold), sugar manufacturing (moldy sugar cane dust), bath tub refinishing (paint catalyst), farming (moldy hay dust), mushroom farming (mushroom compost), laboratory technician (rat or gerbil urine residue), tobacco (snuff), heating and cooling systems (moldy water), malt working/beer brewing (moldy barley), maple bark disease (moldy maple bark dust), sequoiosis (moldy redwood bark dust), Suberosis (moldy cork dust), plastic working (plastic residue), epoxy resin (heated epoxy residue), enzyme detergent (dust), or wheat weevil disease (wheat mold or dust). Affected Population Extrinsic Allergic Alveolitis may affect males and females in equal numbers, but usually affects individuals in occupations where an irritant substance is inhaled by people who are allergic to the substance. Related Disorders Symptoms of the following disorders can be similar to Extrinsic Allergic Alveolitis. Comparisons may be useful for a differential diagnosis: Asthma is characterized by breathing difficulty caused by a wide variety of factors, often associated with allergies. In general, the air passages become narrowed and may return to normal spontaneously, although treatment is often necessary. Long-term cases can diminish in severity, depending on the underlying cause and method of treatment. There is no known cure, but attacks may be controlled to various degrees. Fibrosing Alveolitis, also known as Acute Pulmonary Alveolitis, is an inflammatory lung disorder characterized by abnormal formation of fibrous tissue between tiny air sacs (alveoli) or ducts in the lungs. Coughing and rapid, shallow breathing may develop even with moderate exercise. The skin may become bluish (cyanotic) due to lack of oxygen circulating in the blood. Complications such as infections, emphysema or heart problems may develop. (For more information on this disorder, choose "Fibrosing Alveolitis" as your search term in the Rare Disease Database). Sarcoidosis is a disorder that affects many body systems. It is characterized by small round lesions (tubercles) in tissue. Symptoms may vary depending on the severity of the disease and the proportion of the body that is affected. Widespread lung involvement may occur with or follow lymph node involvement. This infiltration may have a fine "ground-glass" appearance on X-rays, and may appear to have an unusual pattern, or resemble tumors. Lung involvement is usually characterized by coughing and breathing difficulty, although these symptoms can be mild or even absent. (For more information on this disorder, choose "Sarcoidosis" as your search term in the Rare Disease Database). Desquamative Interstitial Pneumonia is a chronic form of pneumonia. The exact cause of this disorder is not known. Symptoms are caused by shedding of large alveolar cells (desquamation) in the lungs and thickening of the walls of the air passages. This disorder is characterized by breathing difficulty and accompanied by a harsh cough that does not seem to clear the obstruction. Therapies: Standard Treatment of Extrinsic Allergic Alveolitis initially depends on identification of organic substance causing the allergic reaction. If possible, the patient should avoid exposure to the allergen. In an occupational setting, mild cases may be alleviated by improved ventilation or use of air filtering masks. In severe or prolonged cases, however, changing jobs may be the best option. If symptoms persist in spite of avoidance, corticosteroid drugs may be tried. In acute cases, steroids in combination with avoidance measures can often reduce the severity of symptoms. All symptoms can usually be resolved in acute cases if they are diagnosed and treated early before permanent changes in the lungs can develop. If permanent lung changes have occurred at the time of diagnosis, it is possible that the patient may not respond well to treatment. Therapies: Investigational This disease entry is based upon medical information available through October 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Extrinsic Allergic Alveolitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Institute of Allergy and Infections Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 National Institute of Environmental Health Sciences Public Affairs Office P.O. Box 12233 Research Triangle Park, NC 27709 (919) 541-3345 References EXTRINSIC ALLERGIC ALVEOLITIS IN CHILDREN. APROPOS OF 4 CASES: M. Bost, et al.; Pediatrie (June 1984, issue 39(4)). Pp. 253-260. ALLERGIC ALVEOLITIS (PATHOGENESIS AND DIAGNOSIS): K.C. Bergman; A Gesamte Inn Med (January 15, 1980, issue 35 (2)). Pp. 77-80. DIAGNOSTIC APPROACH TO NEW OR UNRECOGNIZED RISKS IN HYPERSENSITIVITY PNEUMOPATHIES: C. Molina; Rev Fr Mal Respir (1983, issue 11 (4)). Pp. 427-438. Alveolitis, Extrinsic Allergic !pagetitle 431: Alveolitis, Extrinsic Allergic 03447.TXT Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 432: Alveolitis, Fibrosing _________________________ ** IMPORTANT It is possible the main title of the article (Fibrosing Alveolitis) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Interstitial Diffuse Pulmonary Fibrosis Pulmonary Fibrosis, Idiopathic Diffuse Fibrosing Alveolitis Alveolocapillary block Cryptogenic Fibrosing Alveolitis Hamman-Rich Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Interstitial Pneumonia Extrinsic Allergic Alveolitis General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources section of this report. Fibrosing Alveolitis is an inflammatory lung disorder characterized by abnormal formation of fibrous tissue between tiny air sacs (alveoli) or ducts in the lungs. Coughing and rapid, shallow breathing occur with moderate exercise. The skin may appear slightly bluish (cyanotic) due to lack of circulating oxygen. Complications such as infection, emphysema or heart problems may develop. Symptoms Fibrosing Alveolitis is marked by progressive breathing difficulty and coughing which may not ease the bronchial irritation. Loss of appetite, weight loss, fatigue, weakness, fever, and vague chest pains may be common. Ends of the fingers or toes may become broadened and shiny (clubbed). When oxygen circulation in the blood is poor, the skin may appear bluish (cyanotic). Infections can easily occur due to a weakened immune system. Complications including emphysema, pulmonary infections, or heart disease may develop in untreated patients. Severity of symptoms may vary widely. Causes The exact cause of Fibrosing Alveolitis is not known. Researchers believe that Scleroderma (changes in collagen tissue in the lungs), a blood factor associated with rheumatoid arthritis, or an autoimmune factor may be causes. Autoimmune disorders are caused when the body's natural defenses (antibodies) suddenly begin to attack healthy tissue. Affected Population Fibrosing Alveolitis affects males and females in equal numbers, usually during middle age. Related Disorders Symptoms of the following lung disorders can be similar to those of Fibrosing Alveolitis. Comparisons may be useful for a differential diagnosis: Interstitial Pneumonia is characterized by breathing difficulty and is thought to be a variation of Fibrosing Alveolitis. It can begin gradually. The abnormal lung tissue growths tend to be more uniform than those of Fibrosing Alveolitis. This disorder usually has a favorable response to treatment with systemic corticosteroid drugs. Extrinsic Allergic Alveolitis is a lung disorder similar to Fibrosing Alveolitis. It is caused by repeated or constant exposure to organic substances which usually produce short-term, mild episodes of breathlessness associated with lung irritation or allergic reactions. However, repeated attacks tend to be progressively more severe, and may be characterized by fever, breathing difficulty, crackling sounds during breathing (rales), bluish appearance of the skin (cyanosis), and blood in the sputum. (For more information on this disorder, choose "Alveolitis" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of Fibrosing Alveolitis with systemic corticosteroid drugs may prevent lung changes before they become widespread or permanent. High doses may be recommended at first, followed by a lower maintenance dosage. Some cases which prove resistant to steroid therapy may improve with the purine antagonist drug, azathioprine. Imaging techniques may be useful to monitor progressive lung changes. Oxygen administered in high concentrations may be helpful if oxygen in the blood is diminished. Antibiotics may be required if bacterial infections develop. Digitalis or diuretic drugs may be recommended if heart problems arise. Other treatment is symptomatic and supportive. Therapies: Investigational Lung transplants are under investigation as a possible treatment for Fibrosing Alveolitis. Effectiveness and side effects of this procedure have not been fully documented and more extensive research is being pursued. This disease entry is based upon medical information available through February 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Fibrosing Alveolitis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References EFFECT OF INTERMITTENT HIGH DOSE PARENTERAL CORTICOSTEROIDS ON THE ALVEOLITIS OF IDIOPATHIC PULMONARY FIBROSIS: B.A. Keogh, et al.; Am Rev Respir Dis (January 1983, issue 127(1)). Pp. 18-22. BRONCHOALVEOLAR LAVAGE FLUID NEUTROPHILS INCREASE AFTER CORTICOSTEROID THERAPY IN SMOKERS WITH IDIOPATHIC PULMONARY FIBROSIS: K.L. Christopher, et al.; Am Rev Respir Dis (January 1986, issue 133(1)). Pp. 104-109. CONCENTRATION, BIOSYNTHESIS AND DEGRADATION OF COLLAGEN IN IDIOPATHIC PULMONARY FIBROSIS: M. Selman, et al.; Thorax (May 1986, issue 41(5)). Pp. 355-359. Alveolitis, Fibrosing he d pagetitle 432: Alveolitis, Fibrosing 03448.TXT 8Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 29 Alzheimer's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article Alzheimer's Disease is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Presenile Dementia Senility Information on the following diseases can be found in the Related Disorders section of this report: Pick's Disease Binswanger Disease Creutzfeldt-Jakob Disease General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Alzheimer's Disease is a progressive condition of the brain affecting memory, thought and language. The degenerative changes of Alzheimer's Disease lead to patches or plaques in the brain and the entanglement of nerve fibers (neurofibrillary tangles). Memory loss and behavioral changes occur as a result of these changes in brain tissue. Symptoms Alzheimer's Disease is a slow progressive illness. The early behavioral changes may not be noticed, especially difficulty with short term memory. As the disease progresses, memory loss increases and there are changes in personality, mood and behavior. Disturbances of judgment and concentration occur, along with confusion and restlessness. The type, severity, sequence, and progression of mental changes vary widely. Long periods with little change are common, although occasionally the disease can be rapidly progressive. People with Alzheimer's Disease should be given regular physical examinations to detect other organic disorders that may develop. These patients may be unable to communicate clearly regarding the development of new or unrelated symptoms. Causes Alzheimer's Disease is inherited as an autosomal dominant trait in at least 10 percent of the cases. Researchers studying the genetic forms of Alzheimer's Disease have located defects causing the disorder on at least three chromosomes. These include genes on chromosomes 14, 21, and 19. It is not understood whether these genetic defects can cause different types of Alzheimer's Disease or variations of the same disorder. In other cases of Alzheimer's Disease the cause is unknown. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Alzheimer's Disease frequently occurs in individuals with Down Syndrome who live past 35 years of age. Chromosome 21 abnormalities are common to both Down Syndrome patients and some of the familial Alzheimer's Disease patients. Some studies suggest that the disease may not be a single illness and that several factors are involved. Researchers at the UCLA Medical School found that 100 percent of men with early Alzheimer's Disease (before the age of 60) had the protein HLA-A2 on the surface of their white blood cells, compared to 30 percent of healthy men under the age of 60, and 40 percent of men with late-onset disease. It is suggested that HLA-A2 positive men may be at higher risk for early-onset Alzheimer's Disease. Researchers at the John Hopkins Hospital are studying the brain tissue of deceased Alzheimer's Disease patients, and have found nerve cell (neuronal) degeneration. These nerve cells are believed to contain the neurotransmitter acetylcholine. Some patients with Alzheimer's Disease have a 90 percent loss of these cells. There may be abnormally low levels of acetylcholine in the brains of Alzheimer's Disease patients. Researchers believe that brain cells normally produce a soluble form of the amyloid protein. However, people with Alzheimer's Disease have insoluble deposits of amyloid (plaques) in their brain. Therefore, an unknown factor may be responsible for the plaque formation. It may not be the amyloid protein that causes Alzheimer's Disease, but instead another factor that causes abnormal deposits of amyloid to occur. Affected Population Alzheimer's Disease occurs in approximately 2 percent to 3 percent of the general population over 60 years of age. Approximately 2.5 million people in the United States are affected. The disease affects more females than males and a higher percentage of Afro-Americans than Caucasians. Related Disorders Symptoms of the following disorders can be similar to those of Alzheimer's Disease. Comparisons may be useful for a differential diagnosis: Pick's Disease is a degenerative neurological disorder that affects the frontal and temporal lobes of the brain. The symptoms of Pick's Disease closely resemble those of Alzheimer's Disease. In the early stages, memory is still intact and there is a high degree of disorientation. In the later stages of this disorder, there is a loss of motor control and language skills. There may also be severe dementia. (For more information on this disorder, choose "Pick's Disease" as your search term in the Rare Disease Database). Binswanger Disease is a form of senile dementia that is associated with degenerative changes in the white matter of the brain. The major symptoms include the loss of short term memory, difficulty coping with unusual events, self-centeredness and childish behavior. Other symptoms may include urinary incontinence, difficulty walking, tremor and depression. (For more information on this disorder, choose "Binswanger " as your search term in the Rare Disease Database). Creutzfeldt-Jakob Disease is a rare, degenerative disease of the brain that is characterized by the progressive degeneration of the central nervous system and by neuromuscular disturbances. The early symptoms include a marked loss of memory, behavioral changes, difficulty in concentration and visual disturbances. Sporadic, shock-like contractions of muscles (myoclonus) may also be present. The illness progresses to mental deterioration, sensory disturbances and the progressive wasting away of muscle. (For more information on this disorder, choose "Creutzfeldt-Jakob" as your search term in the Rare Disease Database). Therapies: Standard The treatment of Alzheimer's Disease is symptomatic and supportive. Tranquilizers may decrease agitation, anxiety or unusual behaviors. The depression often accompanying this illness may be treated with various antidepressant drugs. Proper diet and fluid intake are important. Special diets or food supplements may or may not be of benefit. Exercise and physical therapy may be helpful for some patients. Patients with Alzheimer's Disease should avoid drinking alcoholic beverages since alcohol can add to the confused mental state. The daily routine of a patient should be maintained as normally as possible. Continuation of social activities should be encouraged. The only drug approved for the treatment of Alzheimer's Disease is Hydergine-LC. Recent tests suggest that this medication may be ineffective in treating Alzheimer's Disease patients. Genetic counseling may be of benefit for patients and their families. Therapies: Investigational Diagnosed Alzheimer's Disease patients who have one or more relatives (living or deceased) also diagnosed with the disease, may participate in a clinical research study being conducted at the National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, MD. The goal of the study is to identify the gene linked to the type of Alzheimer's Disease that runs in families. Physicians who wish to refer potential candidates from families with many affected individuals should contact: Ms. Linda Nee, M.S.W. or Dr. Ronald Polinsky NIH/National Institute of Neurological Disorders and Stroke (NINDS) Medical Neurology Branch, Bldg. 10, Rm. 5N236 Bethesda, MD 20892 (301) 496-8350 Once the defective gene for Alzheimer's Disease on chromosome 21 is identified, the biochemical abnormality may be defined and researchers may then learn how to correct the defect through drugs, surgery, environmental or genetic manipulation. Studies on the drug tetrahydroaminoacridine (THA or Tacrine) for treatment of Alzheimer's Disease are presently underway. It is hoped that Tacrine may help small amounts of acetylcholine to stay in the brain for longer periods of time. This would not stop the progression of Alzheimer's Disease, but may help temporarily improve symptoms such as memory loss and confusion. Studies published in 1992 indicate that Tacrine may produce slight short-term benefits in a subcategory of Alzheimer's patients, but it can also cause frequent side effects, primarily liver dysfunction and gastrointestinal symptoms. For more information on this drug, please contact: Warner-Lambert Co. 2800 Plymouth Road P.O. Box 1047 Ann Arbor, MI 48106. A study of early onset dementia occurring as a result of Alzheimer's Disease is being conducted by the National Institute of Mental Health (NIMH) and the Neuropsychiatric Research Hospital at Washington, D.C. This study includes a thorough neuropsychological evaluation, brain imaging and evaluation using newly developed biochemical assay techniques. Participants in this study must be under forty-five years of age and not require special medical care. Physicians with patients who are interested should contact: Denise Juliano, MSW Coordinator of Admissions Neuropsychiatric Research Hospital 2700 Martin Luther King Jr. Ave., SE Washington, DC 20032 (202) 373-6100 The narcotic antagonist drug Naltrexone is being tested for treatment of Alzheimer's Disease. This drug may alleviate some symptoms. Further testing is required to determine long-term safety and effectiveness. The drug Desferal administered intramuscularly twice daily is being investigated as a treatment for Alzheimer's Disease. The drug is manufactured by Ciba-Geigy. More study is needed to determine the long-term safety and effectiveness of this treatment. New drugs being developed for the treatment of Alzheimer's Disease by Hoeschst Co. include: Velnacrine (Metane), Suronacrine (HP 128), HP 749, Ebiratide (HOE 427), HOE 065, and CAS 493. The drug linopirine is being tested on Alzheimer's Disease patients. It acts "encourage" brain cells to increase production of acetylcholine that is in short supply in the brains of persons with Alzheimer Disease. Du Pont Merck Pharmaceutical Co. is the manufacturer of this drug. Other drugs in development for the possible treatment of Alzheimer's Disease include: Capoten, SQ 29852, HP290, Nimotop, Guanfacine, Zacopride, Milacemide, Alcar, Oxiracetam, Avan, and Cognex. Research on genetic diseases and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through December 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Alzheimer's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 203 746-6518 Alzheimer's Disease and Related Disorders Association, Inc. National Headquarters 70 East Lake Street Chicago, IL 60601 (312) 853-3060 (708) 330-0230 (800) 621-0379 (In Illinois) (800) 572-6037 (out of state) NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 NIH/National Institute on Aging (NIA) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-1752 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References THE MERCK MANUAL 15th ed. R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1337. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 57-61. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 2075-2079. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 923-926. LACK OF EFFICACY OF HYDERGINE IN PATIENTS WITH ALZHEIMER'S DISEASE, Thompson, Troy, et al.; N. Eng J Med (August 16, 2990, issue 323 (7)). Pp. 445-448. THERAPEUTIC FRONTIERS IN ALZHEIMER'S DISEASE, S.W. Miller et al.; Pharmacotherapy (1992; 12(3)). Pp. 217-231. DRUG TREATMENT OF ALZHEIMER'S DISEASE, J.K. Cooper; Arch Intern Med (Feb 1991; 151(2)). Pp. 245-249. ALZHEIMER'S DISEASE. RECOGNIZING AND TREATING A FRUSTRATING CONDITION, W.P. Shelton et al.; Postgrad Med (Sept 1991; 90(4)). Pp. 33-34, 37-41. A DOUBLE-BLIND, PLACEBO-CONTROLLED MULTICENTER STUDY OF TACRINE FOR ALZHEIMER'S DISEASE: K.L. Davis, et al.; N Engl J Med, (October 29, 1992; issue 327 (22). Pp. 1253-9. Alzheimer's Disease 9pagetitle 29 Alzheimer's Disease 03449.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 908 Ameloblastoma _________________________ ** IMPORTANT ** It is possible that the main title of the article (Ameloblastoma) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Adamantinoma Odontogenic Tumor Mandibular Ameloblastoma Maxillary Ameloblastoma Information on the following diseases can be found in the Related Disorders section of this report: Hard Odontoma Osteosarcoma Globulomaxiallary Cysts General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ameloblastoma is a very rare disorder of the jaw and sinuses. Major symptoms may include cysts or tumors in the dental area. They may also include the sinus, nose and/or eye socket. In some cases the Ameloblastoma can become malignant and spread to other areas of the body. Symptoms Ameloblastoma is characterized by an abnormal growth in the sinus area or jaw, often at the site of the third molar. The tumors or cysts may be aggressive and may spread to the nose, eye socket and skull. It is important that Ameloblastoma is diagnosed and treated early in order to stop growth of the tumors and progression to cancer. Ameloblastomas have been known to become malignant and spread to other parts of the body including the lungs. However, if the initial treatment removes the entire tumor and a wide margin of tissue around the tumor, reoccurrence is rare. If the Ameloblastoma does become malignant it usually spreads through the lymphatic or blood systems. In these cases, although they are rare, the site it spreads to most often is the lung area. The Ameloblastoma does not usually become malignant unless it has reoccurred after surgery that was unsuccessful. Wide margins of healthy tissue around the tumor must be removed. Causes The cause of Ameloblastoma is not understood. It has been suggested that it may be caused by dental irritation during the growth of teeth, the pulling of teeth or in some cases by cavities in the teeth. Other causes may include injury to the mouth or jaw, infections of the teeth or gums, or inflammation of these same areas. Infections by viruses or lack of protein or minerals in the persons diet are also suspected of causing the growth or development of these tumors. In general, however, scientists do not understand the cause of cysts and tumors, nor the reasons why they can become malignant. Affected Population Ameloblastoma is a rare disorder that affects males and females in equal numbers. It affects persons of all ethnic backgrounds and of all age groups. There are more than 200 different forms of cancer, and Malignant Ameloblastoma is a very rare form of cancer. Related Disorders Symptoms of the following disorders can be similar to those of Ameloblastoma. Comparisons may be useful for a differential diagnosis: Hard Odontoma is a tumor of dental origin. It is composed of several characteristics of teeth such as enamel, dentin and cement. The Hard Odontoma grows by spreading directly; the Ameloblastoma grows by infiltrating other spaces. Osteosarcoma can often be confused with Ameloblastoma. This cancer of the bone differs from the dental tumor by arising from the bone forming cells of the long bones. Globulomaxillary Cysts are located between the teeth and may cause the teeth to spread apart. The cysts are either oval or heart shaped and may be removed or drained. Sometimes the treatment of the cysts can cause loss of teeth. Therapies: Standard Ameloblastoma can show up either in a regular x-ray or in an MRI imaging study. Treatment of Ameloblastoma consists of surgical removal of the cysts or tumors. A wide margin of healthy tissue should be removed from the treated area to keep the chance of tumor regrowth to a minimum. If the tumor does reoccur surgery is performed again. If there is malignant spread of the tumor, radiation is the treatment choice. Chemotherapy is usually not as effective in these cases. Therapies: Investigational This disease entry is based upon medical information available through May 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ameloblastoma, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 The National Cancer Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5583 or 5717 (800) 4-CANCER American Cancer Society 1599 Clifton RD, NE Atlanta, GA 30329 (404) 320-3333 References DISEASES OF THE NOSE, THROAT, EAR, HEAD, & NECK., 14th Ed., John Jacob Ballenger, Lea & Febiger, Philadelphia, 1991. Pp. 213, 328. METASTASIZING AMELOBLASTOMA., E H Laughlin, Cancer, August 1, 1991 (issue 64 (3)). Pp. 776-780. AMELOBLASTOMA IN YOUNG PERSONS: A CLINICOPATHOLOGIC ANALYSIS AND ETIOLOGIC INVESTIGATION. MA Kahn, Oral Surg Oral Med Oral Pathol, June, 1998, (issue 67 (6)). Pp. 706-715. AMELOBLASTOMA METASTATIC TO THE LUNG. RP Clay, et al.; Ann Plast Surg, February, 1989, (issue 22 (2)). Pp. 160-162. MAXILLARY AMELOBLASTOMA: CASE REPORT, FJ Sacaccia, et al.; Am J Otolaryngol, January-February, 1991, (issue 12 (1)). Pp. 20-25. AMELOBLASTIC CARCINOMA. REPORT OF AN AGGRESSIVE CASE AND REVIEW OF THE LITERATURE, RA Bruce, et al.; J Craniomaxillofac Surg, August, 1991, (issue 19 (6)). Pp. 267-271. DIAGNOSIS AND TREATMENT OF METASTATIC AMELOBLASTOMA. AH Eliasson, et al.; South Med J, September, 1989, (issue 82 (9)). Pp. 1165-1168. Ameloblastoma irfi! pagetitle 908 Ameloblastoma 03450.TXT 3Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 501: Amelogenesis Imperfecta _________________________ ** IMPORTANT ** It is possible the main title of the article (Amelogenesis Imperfecta) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Brown Enamel, Hereditary Includes: Hypocalcified (Hypomineralized) Type Hypomaturation Type (Snow-Capped Teeth) Hypoplastic (Hypoplastic-Explastic) Type Information on the following diseases can be found in the Related Disorders section of this report: Taurodontism Tricho-Dento-Osseous Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Amelogenesis Imperfecta is a rare genetic disorder characterized by a developmental defect of the tooth enamel. Clinical and X-ray findings will vary between the different types of Amelogenesis. Symptoms Amelogenesis Imperfecta is characterized by defective or missing tooth enamel. Secondary effects of this disorder may be early tooth loss, heightened susceptibility to disease of the tissues surrounding the teeth (periodontal) such as gums, cement, ligaments, and the bone in which the tooth root rests (alveolar). Sensitivity of the teeth to hot and cold is usually increased. The dental pulp (pulpa) in the root canal is exposed in some cases, and a so-called "open bite" may occur because the upper and lower jaws do not align properly. Another complication of Amelogenesis Imperfecta is that the unsightly teeth may cause psychological problems. With orthodontic and periodontal restoration, however, the teeth will look normal and can remain functional throughout life. The disorder occurs in the following forms: HYPOCALCIFIED TYPE Unerupted and newly erupted teeth in affected children are covered by a light yellow-brown enamel. After eruption, the enamel turns brown or black from food stains. The enamel crumbles easily and wears off rapidly, so by the age of 10-12 years only the cores of the teeth consisting of dentin remain. Enamel of the neck (cervical) portion of the teeth may be better calcified. Upper and lower front jaws often do not close completely resulting in an "anterior open bite". The teeth are overly sensitive to temperature changes. On X-ray photos, the enamel appears less dense than the dentin of the core. The crown of the affected teeth appears to have small irregular holes, with a dense line of calcified enamel at the neck of the tooth. Symptoms are more severe in the autosomal recessive form than in the autosomal dominant form of this type of Amelogenesis Imperfecta. Pigmented Autosomal Recessive Hypomaturation Type: The enamel is clear to cloudy light brown and of normal thickness. However, the enamel tends to break off from the dentin core. The enamel is softer than normal and can be penetrated by a sharp dental instrument. X-ray photos show a lack of contrast between enamel and dentin. Sex-Linked Autosomal Recessive Hypomaturation Type In males: The enamel of the baby (primary) teeth looks white and appears like ground glass. The enamel of the permanent teeth appears mottled and yellow. The soft enamel can be penetrated by a sharp dental instrument under pressure. In females: The enamel of the baby teeth shows vertical bands of abnormal "ground glass white" enamel randomly alternating with bands of translucent normal enamel. The enamel of the permanent teeth shows vertical bands of either opaque white or opaque yellow enamel randomly alternating with bands of translucent normal enamel. HYPOPLASTIC TYPES include: Pitted Autosomal Dominant Hypoplastic Type: The enamel is thin with random pits from pinpoint to pinhead size primarily on the surfaces of permanent teeth facing the lips or cheeks (labial or buccal). Some teeth may be normal in both baby and permanent teeth. X-ray photos show a normal contrast between the enamel and the dentin core of the teeth. Rough Autosomal Dominant Hypoplastic Type: The enamel is thin, brown, and very hard, with a grainy glassy (granular vitreous) surface. There is lack of contact between adjacent teeth. On X-ray photos, the teeth appear outlined by a thin layer of enamel. A high contrast between enamel and dentin can be noticed. Rough Autosomal Recessive Hypoplastic Type: The tooth surface is rough, grainy, and light yellow-brown in color. Lack of contact between adjacent teeth occurs. X-ray photos show no enamel present. Many teeth are unerupted and partially resorbed into the jaws. Microscopically, the only evidence of enamel is the laminated agate-like glassy calcification on the surface of the tooth core. Smooth Autosomal Dominant Hypoplastic Type: The enamel is thin, brown, smooth, and glossy, except where it is not calcified properly (hypocalcified) at contact points. Lack of contact occurs between adjacent teeth. X-ray photos show many unerupted teeth with resorption of the crowns in the jaw bones. Small calcified spots may be seen adjacent to unerupted teeth. Local Autosomal Dominant Hypoplastic Type: Only the baby teeth may be affected. Pits and grooves of underdeveloped (hypoplastic) enamel occur horizontally across the middle third of a tooth. Defective enamel may be present in all or only some of the teeth. The most frequently affected teeth are the incisors, or the baby molars. Sex-Linked Dominant Hypoplastic Type: Males: The enamel is thin, brown or yellow-brown, smooth, and shiny. Females: Alternating vertical bands of normal and abnormal enamel (Lyon effect) occur. These bands are visible on X-ray photos of the teeth. Causes Amelogenesis Imperfecta is inherited through various modes of transmission. The Hypomaturation Type is inherited through either autosomal recessive or sex-linked recessive genes. The Hypoplastic Type of Amelogenesis Imperfecta is inherited through either autosomal dominant, autosomal recessive, or sex-linked dominant genes. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However the affected male always has a more severe condition. Sometimes affected males die before birth so that only female patients survive. The structural defect in enamel formation during development of the embryo is thought to be the result of the inhibition of crystallization in the region between the enamel rods (interrod) related to the development of the skull and face (craniofacial). Poor oral hygiene can aggravate symptoms of Amelogenesis Imperfecta. Affected Population Amelogenesis Imperfecta affects between 1 out of 14,000 to 16,000 children in the United States. Of this number about 40% have the Hypocalcified Dominant Type. The autosomal dominant and recessive forms of the disorder affect males and females in equal numbers. The sex-linked dominant type of the disorder affects twice as many males as females. The sex-linked recessive type affects only males. Related Disorders Symptoms of the following disorders can be similar to those of Amelogenesis Imperfecta. Comparisons may be useful for a differential diagnosis: Taurodontism (Bull Teeth) is a genetic disorder whose exact mechanism of inheritance is not known. The disorder is characterized by large cavities in the jaw bones in which the tooth pulp rests. Molars are usually the most severely affected. The bull (taurodont) tooth lies deep in the bone. This disorder was frequently found in early man and is most often found today in Eskimos who use their teeth for cutting hides. Taurodontism may be a form of Tricho-Dento-Osseous Syndrome. Tricho-Dento-Osseous Syndrome (TDO Syndrome) is one of a group of congenital disorders known as the Ectodermal Dysplasias. Intelligence and life span are usually normal for individuals with this disorder. The condition primarily affects the hair which is strikingly curly, and the teeth. X-ray examination of persons with TDO Syndrome usually shows a mild increase in bone density, particularly in the skull. Thin and brittle fingernails also occur. Children with this disorder may have to wear dentures. A person with TDO Syndrome may have Amelogenesis Imperfecta as well. (For more information on this disorder, choose "TDO" as your search term in the Rare Disease Database.) Therapies: Standard Diagnosis of Amelogenesis Imperfecta is usually made by X-ray examination at the time the teeth erupt. By 1 to 2 years of age, the diagnosis can be made by visual examination. Full crown restorations and a type of denture that caps defective teeth and corrects "open bite" are excellent treatments for this disorder. Desensitizing toothpaste can prevent painful sensitivity to heat and cold. Good oral hygiene is important. Genetic counseling is recommended for families of children with Amelogenesis Imperfecta. Therapies: Investigational This disease entry is based upon medical information available through May 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Amelogenesis Imperfecta, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Foundation for Ectodermal Dysplasias 219 E. Main St. Mascoutah, IL 62258 (618) 566-2020 NIH/National Institute of Dental Research 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4261 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This report in the Rare Disease is based on outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics. A NEW CLASSIFICATION OF HERITABLE HUMAN ENAMEL DEFECTS AND A DISCUSSION OF DENTIN DEFECTS: E.D. Shields; Birth Defects (1983: issue 19(1)). Pp. 107-127. A CLINICAL, GENETIC, AND ULTRASTRUCTURAL STUDY OF SNOW-CAPPED TEETH: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE: V.H. Escobar, et al.; Oral Surgery (December 1981: issue 52(6)). Pp. 607-614. AN INVESTIGATION OF THE ASSOCIATION BETWEEN ANTERIOR OPEN-BITE AND AMELOGENESIS IMPERFECTA: R. Rowley, et al.; American Journal Orthod Dentofacial Orthop (March 1982: issue 81(3)). Pp. 229-235. MODIFIED OVERDENTURES FOR THE MANAGEMENT OF OLIGODONTIA AND DEVELOPMENTAL DEFECTS: B.J. Abadi, et al.; ASDC Journal Dent child (March-April 1982: issue 49(2)). Pp. 123-126. Amelogenesis Imperfecta 5pagetitle 501: Amelogenesis Imperfecta 03451.TXT Copyright (C) 1986, 1989, 1993 National Organization for Rare Disorders, Inc. 70: Amenorrhea, Primary _________________________ ** IMPORTANT ** It is possible that the main title of the article (Primary Amenorrhea) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Absence of Menstruation PA General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Primary Amenorrhea is a rare gynecological disorder characterized by the absence of menstrual flow (menses) in a female age 18 or older. The beginning of regular menstruation (menarche) usually begins within two years after the onset of puberty. Absence of menses by age 18 or older constitutes Primary Amenorrhea. Symptoms The sole symptom of Primary Amenorrhea is absence of the first menstruation and the lack of a regular monthly cycle of menstruation. Other features may include lack of secondary sexual characteristics (i.e., the development of axillary hair and pubic hair), and incomplete or underdeveloped sexual organs (external genitalia) and breasts. Laboratory tests may reveal a deficiency in the functioning of the ovaries or an underactive pituitary gland. The hymen may completely cover the opening of the vagina (imperforate hymen). Causes Primary Amenorrhea is usually caused by an excess or a deficiency of a hormone called gonadotropic-releasing hormone (GnRH), which is produced in the hypothalamus. Severe eating disorders (i.e., Anorexia Nervosa), crash dieting, emotional stress (i.e., depression), and obesity can cause Amenorrhea. Tuberculosis or Lymphoma can alter the function of the hypothalamus gland resulting in Primary Amenorrhea. (For more information, choose "Anorexia Nervosa," "Tuberculosis," and "Lymphoma" as your search terms in the Rare Disease Database.) Some chromosomal disorders (e.g., Turner Syndrome) may cause primary ovarian failure. It is possible that autoimmune disease or menopause before the first menstrual flow (premenarchal menopause) may also cause Primary Amenorrhea. Primary Amenorrhea may also be caused by abnormalities of the anatomy including the absence at birth of the vagina, uterus, and/or ovaries. Other abnormalities include the underdevelopment of the lining of the uterus (atrophic endometrium) and a rare condition in which both ovaries and testes are present in one individual (hermaphroditism). Menstrual flow may also be obstructed by the complete closure of the vaginal opening by the hymen (imperforate hymen) or the presence of a membranous partition across the vaginal canal (transverse vaginal septum). (For more information, choose "Hermaphroditism" as your search term in the Rare Disease Database.) A variety of drugs can cause secondary Amenorrhea including barbiturates, opiates, corticosteroids, chlordiazepoxide, phenothiazines, and progesterone. For some women with Primary Amenorrhea, functioning that is normal for that person (simple physiologic delay) may explain why a female as old as 18 years of age has not menstruated. In these cases, secondary sexual characteristics are usually present and the external sexual organs appear normal. Affected Population Disorders of menstruation are among the most common form of diseases affecting females that result from the abnormal function of glands and tissues that secrete hormones (endocrinopathy). Related Disorders Symptoms of the following disorders can be similar to those of Primary Amenorrhea. Comparisons may be useful for a differential diagnosis: Amenorrhea can be a symptom of many disorders and the absence of menstruation may occur for many different reasons. These disorders include Acromegaly, Stein-Leventhal Syndrome (Polycystic Ovary Disease), Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Cushing Disease, Hyperthyroidism, Hypothyroidism, and tumors of the pituitary gland. (For more information on these disorders, choose "Acromegaly," "Stein-Leventhal," "Adrenal Hyperplasia, Congenital," "Cushing," and "Hypothyroidism" as your search terms in the Rare Disease Database.) Therapies: Standard Women with Primary Amenorrhea should be examined by a physician who specializes in treating disorders related to women's health (gynecologist) or improper functioning of glands (endocrinologist). If the Amenorrhea is a result of a normal delay (physiologic delay), generally no therapy is indicated before age 18. If secondary sexual development is lacking by age 14, then a thorough investigation is warranted. The treatment of Primary Amenorrhea depends on the cause. The administration of hormones such as progesterone and estrogen and/or corticosteroid drugs may be effective in the treatment of some types of Amenorrhea. The patient may also benefit from emotional support and counseling. Imperforate hymen, other anatomical malformations, and tumors may require surgery. Therapies: Investigational Scientists are investigating the use of various combinations of hormones in the treatment of Primary Amenorrhea. In a recent study, women with Primary Amenorrhea due to hypothalamic dysfunction were treated with a combination of human menopausal gonadotrophin (HMG) and gonadotrophin releasing hormone analoque (GnRHa). This treatment successfully stimulated ovarian function in some patients. More study is needed to determine the long-term safety and effectiveness of combination hormone therapy in the treatment of this form of Primary Amenorrhea. This disease entry is based upon medical information available through April 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Primary Amenorrhea, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Women's Health Network 1325 G St., NW, Lower Level B Washington, DC 20005 (202) 346-1140 The National Adrenal Diseases Foundation, Inc. 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 NIH/Niational Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 References TEXTBOOK OF ENDOCRINOLOGY, 8TH ED.: Jean D. Wilson and Daniel W. Foster, Editors; W.B. Saunders Co., 1992. Pp. 764-768. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1365-1370. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 1795 SUCCESSFUL TREATMENT OF INFERTILE WOMEN WITH HYPOTHALAMIC PRIMARY AND SECONDARY PROTRACTED AMENORRHEA USING GONADOTROPHIN RELEASING HORMONE ANALOQUE AND HUMAN MENOPAUSAL HONADOTROPHIN. M.A. Aboulghar; Hum Reprod (July 1990; 5(5)). Pp. 557-560. Amenorrhea, Primary thig pagetitle 70: Amenorrhea, Primary 03452.TXT #Copyright (C) 1989 National Organization for Rare Disorders, Inc. 711: Amniotic Bands _________________________ ** IMPORTANT ** It is possible that the main title of the article (Amniotic Bands) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Oligohydramnios Sequence Early Constraint Defects Information on the following diseases can be found in the Related Disorders section of this report: Pierre Robin Syndrome Clubfoot Bilateral Renal Agenesis Potter Syndrome Polycystic Kidney Disease General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Amniotic Bands is a rare condition that occurs when the level of amniotic fluid is insufficient during pregnancy. The severity of the resulting disorder in a baby is associated with the stage of development of the fetus at the time the amniotic fluid decrease begins in the uterus. Major symptoms may include deformations of the feet, spine, lungs and face. Symptoms Amniotic Bands occurs as a result of loss of amniotic fluid from the uterus during pregnancy. Infants with Amniotic Bands are usually born to young pregnant woman with hypertension and unusual swelling (preeclampsia). If the loss of fluid occurs early in the pregnancy the resulting deformations of the fetus may be very serious and the condition may result in spontaneous abortion. If the rupture of the amniotic sac occurs later in the pregnancy it may or may not result in Amniotic Bands. The Amniotic Bands are constraint defects which do not allow the fetus to develop and move in a normal way. Common deformations may include scoliosis and clubfeet as well as vascular defects which can cause reduction in the size of the limbs. Deformations that result from incomplete normal development of the fetus, such as chest compression, can result in underdevelopment of the lungs making the infant incapable of breathing on its own. In some cases the infant's head may be compressed resulting in a misshapen or unusual looking head. The face may appear as though a stocking was pulled over it, flattening the nose and ears. Legs or arms may also be compressed as a result of too little amniotic fluid, resulting in joint stiffness and dislocations. Causes Amniotic Bands can have several causes. One is an early rupture of the amniotic sac. This can happen for unknown reasons, or extremely rarely as a result of a test to diagnosis chromosomal disorders before birth (amniocentesis). Premature rupture of the amniotic sac may result in problems during delivery as the infant cannot maneuver properly. Amniotic bands can also be caused by a lack of urine output by the fetus. This results in a decrease of amniotic fluid since in the later stages of pregnancy urine from the fetus makes up a large portion of the amniotic fluid. Several kidney disorders in a fetus may cause an absence of, or insufficient level of amniotic fluid (see related disorders section of this report). Affected Population Amniotic Bands affect male and female infants in equal numbers. When the lack of fluid is the result of insufficient urine output by a fetus, first degree family members should be checked for a possible kidney disease to determine if a genetic factor is involved. Related Disorders Symptoms of the following disorders can be similar to those of Amniotic Bands. Comparisons may be useful for a differential diagnosis: Pierre Robin Syndrome in an infant is characterized by an unusually small jaw (micrognathia), downward displaced tongue (glossoptosis), and cleft soft palate. The tongue may obstruct normal breathing. Problems in breathing may lead to lung malfunction and enlargement of part of the heart (cor pulmonale), high blood pressure in the lung's arteries (pulmonary hypertension), and possibly lead to congestive heart failure. This disorder may result from mechanical constraint of the fetus in the womb due to lack of amniotic fluid. It may also be inherited as an autosomal recessive trait, or result from certain drugs taken by the mother during pregnancy. (For more information on this disorder, choose "Pierre Robin" as your search term in the Rare Disease Database). Clubfoot is a word used for several kinds of ankle and foot deformities usually present at birth. The defect can be mild or severe, and it can affect one foot or both. Clubfoot probably is caused by a combination of hereditary and other factors that may affect prenatal growth, such as mechanical constraint (lack of amniotic fluid), infection, drugs taken during pregnancy, diseases and other factors in the maternal environment. (For more information on this disorder, choose "Clubfoot" as your search term in the Rare Disease Database). Bilateral Renal Agenesis is the absence of both kidneys at birth. It is characterized by the failure of the fetus to develop kidneys. This absence of fetal kidneys is the primary cause of the deficiency of amniotic fluid (Oligohydramnios) in the pregnant mother. (For more information on this disorder, choose "Bilateral Renal Agenesis" as your search term in the Rare Disease Database). Potter's Syndrome (Oligohydramnios tetrad), results from the lack of amniotic fluid caused by a defect of urinary output from the fetus, or by chronic leakage of fluid from the amniotic sac. Potter's Syndrome is characterized by an unusual face, underdevelopment of the lungs, limb deformities, and inadequate or missing kidneys. Polycystic Kidney Disease is characterized by many cysts in both kidneys. This causes enlargement of the total kidney size, while reducing the functional kidney tissue by compression. The infantile form of Polycystic Kidney Disease is present at birth with characteristic low output of urine. (For more information on this disorder, choose "Polycystic Kidney" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Amniotic Bands is symptomatic and supportive. Genetic counseling may be of benefit for families of infants with certain forms of inherited kidney disease that can cause Amniotic Bands. Alpha-fetoprotein (AFP) screening, a test for fetal abnormalities, may be able to detect early second-trimester lack of amniotic fluid. Therapies: Investigational The artificial instillation of amniotic fluid is a form of treatment under investigation by scientists for women with severe lack of amniotic fluid (oligohydramnios). This procedure is being tried only on an experimental basis when conservative measures have proven ineffective. More studies are needed to indicate safety and effectiveness of this procedure. This disease entry is based upon medical information available through December 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Amniotic Bands, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: Kenneth L. Jones, M.D.; W.B. Saunders Company, 1988. Pp. 572-573. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN DEFORMATION, 2nd ed.: John M. Graham, Jr., M.D.; W.B. Saunders Company, 1988. Pp. 14, 102-103, 114-117. OLIGOHYDRAMNIOS; CLINICAL ASSOCIATIONS AND PREDICTIVE VALUE FOR INTRAUTERINE GROWTH RETARDATION. E.H. Philipson, et al.; Am J Obstet Gynecol (June 1, 1983, issue 146 (3)). Pp. 271-278. ELEVATED MATERNAL SERUM ALPHA-FETOPROTEIN, SECOND-TRIMESTER OLIGOHYDRAMNIOS, AND PREGNANCY OUTCOME. W.L. Koontz, et al.; Obstet Gynecol (September, 1983, issue 62 (3)). Pp. 301-304. ARTIFICIAL INSTILLATION OF AMNIOTIC FLUID AS A NEW TECHNIQUE FOR THE DIAGNOSTIC EVALUATION OF CASES OF OLIGOHYDRAMNIOS. U. Gembruch, et al.; Prenat Diagn (January, 1988, issue 8 (1)). Pp. 33-45. ACUTE DEVELOPMENT OF OLIGOHYDRAMNIOS IN A PREGNANCY COMPLICATED BY CHRONIC HYPERTENSION AND SUPERIMPOSED PRE-ECLAMPSIA. P.J. Weinbaum, et al.; Am J Perinatol (January, 1986, issue 3 (1)). Pp. 47-49. Amniotic Bands %pagetitle 711: Amniotic Bands 03453.TXT @D-DCopyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 22: Amyloidosis _________________________ ** IMPORTANT ** It is possible that the main title of the article (Amyloidosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Primary Amyloidosis also known as Idiopathic Amyloidosis and Primary Nonhereditary Amyloidosis Cardiopathic Amyloidosis also known as Pericollagen Amyloidosis Hereditary Nephropathic Amyloidosis also known as Neuropathic Amyloidosis and Portuguese Type Amyloidosis Amyloidosis of Familial Mediterranean Fever Macular Amyloidosis also known as Primary Cutaneous Amyloidosis and Lichen Amyloidosis Secondary Generalized Amyloidosis also known as Abercrombie Syndrome and Waxy Disease Amyloidosis with Multiple Myeloma also known as Paramyeloidosis and Atypical Amyloidosis DISORDER SUBDIVISIONS: Systemic Amyloidosis Secondary Amyloidosis Hereditary Amyloidosis OTHER RECOGNIZED FORMS OF AMYLOIDOSIS INCLUDE: Amyloidosis, Transthyretin Methionine-30 also known as Amyloidosis Type I Amyloidosis, Indiana Type also known as Amyloidosis Type II Amyloidosis, Danish Cardiac Type also known as Amyloidosis, Type III Amyloidosis, Iowa Type also known as Amyloidosis Type IV Amyloidosis, Finnish Type also known as Amyloidosis Type V Amyloidosis, Icelandic Type also known as Amyloidosis Type VI Amyloidosis, Ohio Type also known as Amyloidosis Type VII Amyloidosis, Familial Visceral also known as Amyloidosis Type VIII Amyloidosis, Familial Lichen also known as Amyloidosis Type IX Amyloidosis, Appalachian Type also known as Analine 60 Amyloidosis Amyloidosis, Ashkenazi Type also known as Isoleucine 33 Amyloidosis Amyloidosis, Corneal also known as Amyloid Corneal Dystrophy Amyloidosis, Familial Cutaneous Amyloidosis, Hemodialysis-Related also known as A Beta-2-Microglobulin and Amyloid Arthropathy of chronic Hemodialysis Amyloidosis, Illinois Type also known as Amyloidosis, Prealbumin Tyr-77 General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Amyloidosis is the term applied to a group of metabolic disorders in which amyloid (a fibrous protein) accumulates in tissues of the body. The excessive accumulation of amyloid causes the affected organ to malfunction. The accumulation may be localized, general, or systemic. There are various systems used to classify the different forms of the disorder. The most widely used classification system is based on the chemical properties of the fiberlike structures within amyloid (fibrils). The most common form of Amyloidosis is AL or light-chain-related (Primary Amyloidosis). This form of the disease may occur independently of other disease, or in the presence of multiple tumors arising from the bone marrow (myeloma). This form of the disorder generally effects the tongue, thyroid gland, intestinal tract, liver and spleen. Cardiac involvement may result in congestive heart failure. AA Amyloidosis, or Secondary Amyloidosis, is most often discovered during the course of a chronic inflammatory disease, such as rheumatoid arthritis, chronic infections or familial Mediterranean fever. AA Amyloidosis commonly impairs the proper functioning of the kidneys, liver and spleen. The adrenal glands, lymph nodes, and vascular system may be effected as well. The skin inflammation that occurs with recurrent injections that are given to treat some inflammatory diseases seems to induce AA Amyloidosis. Malfunctioning of the kidneys, as in nephrotic syndrome and kidney (renal) failure, causes the most fatalities in AA Amyloidosis. This type of Amyloidosis is reported in approximately 1 percent of cases of chronic inflammatory diseases in the United States. Amyloidosis of Aging commonly affects the heart. Sometimes this form of Amyloidosis also affects the pancreas and brain. Hemodialysis-Associated Amyloidosis is seen in patients who have experienced long-term hemodialysis (a procedure in which impurities or wastes are removed from the blood due to the malfunctioning of the kidneys). Familial Amyloidosis is found in a series of genetically transmitted diseases that typically affect the kidney, heart, skin and other areas of the body. Symptoms The symptoms of Amyloidosis are nonspecific. Generally, involved organs become rubbery and firm, and have a waxy appearance. Often they become enlarged. Biopsy is necessary for a firm diagnosis of Amyloidosis. The nephrotic (kidney) syndrome associated with Amyloidosis is usually accompanied by increased levels of protein in the urine (proteinuria), which worsens as the disease progresses and may finally result in kidney failure. The kidneys become small, pale and hard. Renal tubular defects, renal vein blood clots (thrombosis) and high blood pressure (hypertension) may also be present. Amyloid may accumulate in other parts of the urogenital system, such as the bladder or urinary tubes (ureter). Amyloidosis may affect the liver and the spleen. An enlarged liver (hepatomegaly) and an enlarged spleen (splenomegaly) are the most notable signs. Elevated liver enzymes (alkaline phosphatase) and other liver function abnormalities may be detected early. Generally the function of the liver is not significantly affected until late in the course of the disease. The occurrence of Amyloidosis in the spleen increases the risk of traumatic rupture of that organ. Amyloidosis frequently involves the heart. Common symptoms of heart involvement include: an enlarged heart (cardiomegaly); an irregular heartbeat (arrhythmias); heart murmurs; and abnormalities of the heart seen on electrocardiograms. Congestive heart failure is the most common cardiac complication of Amyloidosis. Nodular deposits of amyloid may be present on the membranous sac that surrounds the heart (pericardium) and on the lining of the heart chambers (endocardial). There may also be amyloid deposits on the heart valves. Amyloidosis may also affect the gastrointestinal (digestive) system. Symptoms may be similar to those of gastric cancer and frequently develop in association with chronic diseases such as tuberculosis and granulomatous ileitis (obstruction and immobility of the intestines). Amyloid accumulation in the gastrointestinal tract may cause a lack of movement (motility) in the esophagus and the small and large intestines. Malabsorption, ulceration, bleeding, weak gastric activity, pseudo-obstruction of the gastrointestinal tract, protein loss, and diarrhea may also occur. Infiltration by amyloids may also cause enlargement of the tongue (macroglossia). The skin is involved in at least half of Primary and Secondary Amyloidosis cases, and in all cases of Amyloid Neuropathy. The lesions may be visible or may be so small that they may be seen only with a microscope. Waxy-looking papulars may appear on the face and the neck. They may also occur under the arms (axillary region), near the anus and the groin. Other areas that may be affected are the mucous areas such as the ear canal or tongue. Areas of swelling, hemorrhages under the skin (purpura), hair loss (alopecia), inflammation of the tongue (glossitis) and a dry mouth (xerostomia) may also be present. Neurological symptoms often appear in Hereditary Amyloidosis, and Amyloidoses associated with multiple myeloma. These symptoms may include: inflammation and degeneration of motor and sensory nerves outside those of the brain and spinal cord (peripheral neuropathy); a decrease in the amount of sweat production (hypohidrosis); a sudden drop in blood pressure when the patient stands up (postural hypotension); the pupils of the eyes do not constrict properly in response to light (Adie's Syndrome, tonic pupil); a hoarse voice; sphincter dysfunction; and an increase in the concentration of protein in the cerebrospinal fluid that surrounds the brain and spinal cord. Problems with the respiratory system that are associated with Amyloidosis often parallel cardiac symptoms. Air passages and ducts may be obstructed by accumulations of amyloid in the nasal sinuses, voice box (larynx) and throat (trachea). Joint abnormalities (arthropathy) are common in Amyloidosis due to the accumulation of amyloid. This occurs in 6 to 15 percent of multiple myeloma cases and may involve articular cartilage or the synovial membrane and fluid. Symptoms are similar to those of Rheumatoid Arthritis. Amyloid deposits in muscle tissue may cause muscle weakness and muscle changes (pseudomyopathy). Symptoms of Amyloidosis may also occur in the blood system. These may include a deficiency of clotting protein (fibrinogenopenia), increased decomposition of fibrin that is responsible for the removal of small clots (fibrinolysis) and a deficiency of certain clotting factors. Causes Little is known about the cause of Amyloidosis, although it appears that the various forms of Amyloidosis result from different causes. In Secondary Amyloidosis symptoms may develop due to excessive antigenic stimuli (substances that induce an immune response) that accompany chronic inflammatory or infectious diseases. Hereditary Amyloidosis is thought to be inherited as an autosomal dominant trait, unless associated with familial Mediterranean fever, which seems to be an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene, resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Amyloidosis affects males and females in equal numbers. The exception is the Ashkenazi form of Amyloidosis that affects only males of Jewish ancestry. AA Amyloidosis (Secondary Amyloidosis) may occur in 3 to 5 percent of cases of rheumatoid arthritis. It is estimated that in the United States 1 in 100,000 to 1 in 1,000,000 people are carriers of the defective gene that causes Hereditary Amyloidosis. At the present time prevalence statistics for AL Amyloidosis (Primary Amyloidosis) are not available. It is estimated that each major teaching hospital in the United States treats several patients each year with this form of Amyloidosis. A high percentage of people with Familial Mediterranean Fever develop systemic Amyloidosis. Related Disorders The following disorders may be associated with Amyloidosis. Amyloidosis may appear in conjunction with or as a result of the following disorders: Multiple Myeloma Hodgkin's Disease Lymphoma Medullary carcinoma of the thyroid Whipple's Disease Crohn's Disease Osteomyelitis Rheumatoid Arthritis Ankylosing Spondylitis Reiter's Syndrome Psoriatic Arthritis Tuberculosis Leprosy Familial Mediterranean Fever Paraplegia Alzheimer's Disease (For more information on these disorders, choose the following as search terms on the Rare Disease Database: "Multiple Myeloma", "Hodgkins", "Lymphoma", "Whipple", "Crohn", "Osteomyelitis", "Ankylosing Spondylitis", "Reiter", "Arthritis", "Tuberculosis", "Leprosy", "Mediterranean Fever", "Paraplegia" and "Alzheimer's".) Therapies: Standard Treatment for Amyloidosis is supportive and symptomatic. In Secondary Amyloidoses, treatment of the underlying disease may control the Amyloidosis adequately. This treatment must begin early in the course of the underlying illness. In addition, chronic colchicine therapy (a drug used to treat gout and gouty arthritis) may improve survival in many patients. Patients with AL Amyloidosis, whether they have myeloma or not, may benefit from drug therapies that are used to treat myeloma. Patients with Amyloidosis that affects the heart may be more sensitive to digitalis drugs. These drugs should be used with extreme caution. The removal of toxins and wastes from the blood by means of dialysis, or kidney transplantation may be necessary in cases with severe kidney (renal) involvement. Kidney transplantation has been successful for several patients. It is not known whether Amyloidosis recurs in the transplanted kidney. Localized amyloid tumors may be surgically removed, generally without further complications or recurrence. The most successful treatment thus far has been the preventive use of the drug colchicine in patients with familial Mediterranean fever. Genetic counseling may be of benefit for patients and their families with the hereditary forms of Amyloidosis. Therapies: Investigational The Mayo Clinic is studying the use of Alpha Interferon as a treatment for Amyloidosis. There is also a study at the Mayo Clinic investigating the use of two different chemotherapy programs as a treatment for Primary Systemic Amyloidosis. For more information, physicians may can contact: Morie A. Gertz, M.D. Dept. of Hematology & Internal Medicine Mayo Clinic Rochester, MN 55905 (507) 284-2511 Researchers at the Boston University School of Medicine are studying a combination of drugs (Colchicine, Melphalan and Prednisone) to determine their long-term safety and effectiveness as a treatment for Amyloidosis patients. Physicians may contact: Dr. Martha Skinner (617)247-5066 Dr. Alan S. Cohen (617)424-5154 Arthritis Center Boston University School of Medicine 71 E. Concord Street Boston, MA 02118 This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Amyloidosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Amyloidosis Network 7118 Cole Creek Dr. Houston, TX 77092 (713) 466-4351 NIH/National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Clearinghouse 9000 Rockville Pike Bethesda, MD 20892 (301) 496-8188 Dr. Martha Skinner (617) 247-5066 Dr. Alan S. Cohen (617) 424-5154 Arthritis Center Boston University School of Medicine 71 E. Concord Street Boston, MA 02118 Morie A. Gertz, M.D. Robert A. Kyle, M.D. Hematology Division Mayo Clinic 200 S.W. First Street Rochester, MN 55905 (507) 284-2511 Dr. Merrill Benson Indiana University, Rheumatology A772 1481 W. 10th St. Indianapolis, IN 56201 (317) 635-7401, ext. 2225 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 359-60, 1198-1203. THE MERCK MANUAL 15th ed. R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. Pp. 1013, 1151, 1196. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 66, 1214-15, 1786. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 2439-2460. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 99-109. AMYLOIDOSIS, A.S. Cohen et al.; Curr Opin Rheumatol (Feb 1991; 3(1)). Pp. 125-138. AMYLOID AND AMYLOIDOSES, R. Kisilevsky; Mod Pathol (Jul 1991; 4(4)). Pp. 514-518. Amyloidosis 198?E BEpagetitle 22: Amyloidosis 03423.TXT @0<0Copyright (C) 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1993 National Organization for Rare Disorders, Inc. 51: Acromegaly _________________________ ** IMPORTANT ** It is possible that the main title of the article (Acromegaly) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Marie Disease Information on the following diseases can be found in the Related Disorders section of this report: Gigantism Marfan Syndrome McCune-Albright Syndrome Soto's Syndrome Wermer Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Acromegaly is a rare, slowly progressive chronic disorder characterized by an excess of growth hormone. Symptoms include abnormal enlargement in bones of the arms, legs, and head. The bones in the jaws and in the front of the skull are typically the most affected. Acromegaly may also cause thickening of the soft tissues of the body, particularly the heart and accelerated growth leading to tall stature. Symptoms The symptoms of Acromegaly generally progress slowly after puberty and become more noticeable during middle age. Facial features gradually get a coarse appearance caused by the growth of soft tissues and cartilage. The facial bones become prominent, the jaw protrudes, and an overbite may cause a wide separation between the teeth. People with Acromegaly eventually get a deep and husky voice. Overgrowth of bone and enlargement of cartilage (hypertrophy) in the joints may result in inflammation and the gradual degeneration of involved joints (osteoarthritis). In some people with Acromegaly the spine may curve from side to side and from front to back (kyphoscoliosis). Acromegaly causes a gradual enlargement of the hands and feet. Compression of the spinal nerves may lead to a variety of functional abnormalities and pain. The skin may become dark and there may be an excessive amount of body hair (hirsutism). In some cases abnormal enlargement of the heart may lead to congestive heart failure. Other symptoms of Acromegaly may include abnormal enlargement of the liver (hepatomegaly), spleen (splenomegaly), and/or kidneys (renal). There may also be enlargement of the thyroid and/or the adrenal glands. Approximately 25 percent of people with Acromegaly have elevated blood pressure (hypertension). Abnormal enlargement of the pituitary gland, located deep within the brain, may cause headaches, visual abnormalities, and/or hormonal imbalances. In approximately 50 percent of people with Acromegaly, excessive levels of growth hormone (GH) secreted by the pituitary gland may influence the production of insulin by the pancreas. This results in elevated levels of blood sugar (glucose). Some people with Acromegaly may have an increased metabolic rate, excessive sweating, and/or an increase in the production of oil (sebum) by the sebaceous glands in the skin. Symptoms that may develop late in the course of Acromegaly include muscle weakness (myopathy) and impaired function of peripheral nerves (nerves that are outside the brain and spinal cord). Vision may become impaired and possibly progress to blindness. If untreated, 25 percent of people with Acromegaly experience an increase in the amount of sugar in their urine (glycosuria), abnormally excessive thirst (polydipsia), and/or abnormally increased appetite (polyphagia). When Acromegaly occurs in young adults it can cause rapid and excessive growth resulting in very tall stature. Causes Acromegaly is a rare disorder that may be caused by the growth of a benign tumor (adenoma) in the pituitary cells that secrete growth hormone (frontal somatotrophic cells). Symptoms develop due to the excessive release (hypersecretion) of growth hormone (GH) by the pituitary gland. Less frequently Acromegaly may be caused by the ineffective control of growth hormone-secreting cells by the hypothalamus (a gland in the brain that regulates hormone secretions). Growth hormone-secreting tumors may sometimes be due to over-stimulation by the hypothalamus. Acromegaly may also be caused by the biologic drug, Human Growth Hormone (hGH). This drug is usually prescribed for children with growth hormone deficiency such as pituitary dwarfism. However, when this drug is used by people with normal levels of growth hormone (such as normal children who want to grow taller, or by weight lifters who want to strengthen muscles), it might cause Acromegaly. Affected Population Acromegaly is a rare disorder that affects males and females in equal numbers. This disorder occurs in approximately 50 to 70 people per million. Related Disorders Symptoms of the following disorders can be similar to those of Acromegaly. Comparisons may be useful for a differential diagnosis: Gigantism is an abnormal condition characterized by excessive height and size. This disorder typically occurs before puberty as a result of the over secretion of growth hormone by the pituitary gland. Gigantism is associated with enlarged soft tissues and late epiphyseal closure (head of the long bones), which results in excessive growth during childhood. Height may reach 7 or 8 feet. Low levels of growth hormone may be secreted by the pituitary gland later in the course of this disorder and result in impaired muscle function and low levels of hormone secretions by the ovaries or testes. Sexual development may be normal or it may be affected by the low levels of circulating sex hormones. In some cases of Gigantism, patients may experience tingling and/or burning sensations in the arms and/or legs (peripheral neuropathy). Marfan Syndrome is a rare inherited disorder that affects the connective tissues of the heart and blood vessels (cardiovascular system); the musculoskeletal system (ligaments and muscles) is also affected. The major features of this disorder include unusually tall stature, and large hands and feet. People with Marfan Syndrome may have significant cardiovascular problems including mitral valve prolapse, degeneration and enlargement of the aorta, and/or a bulge in the wall of the aorta (aortic aneurysm). Other symptoms may include excessive joint mobility, flat feet, extreme muscle weakness (hypotonia), a protruding or indented breast bone (sternum), and curvature of the spine (scoliosis). (For more information on this disorder, choose "Marfan" as your search term in the Rare Disease Database.) McCune-Albright Syndrome (Acromegaly and Hyperprolactemia) is a rare multi-system disorder characterized by the abnormal growth of fibrous bone tissue (polyostotic fibrous dysplasia). Bones most frequently affected include those of the arms and legs, pelvis, ribs, and/or the base of the skull. Symptoms of McCune-Albright Syndrome may include pain, shortening of the limbs, and/or the appearance of patchy brown spots on the skin (cafe-au-lait macules). During childhood people with McCune-Albright Syndrome grow rapidly and become taller than children of equal age. However, growth stops prematurely so that adults with McCune-Albright Syndrome are shorter than normal. Early puberty (precocious puberty), as early as three months of age can occur, and is more common in females than males. (For more information on this disorder, choose "McCune-Albright" as your search term on the Rare Disease Database.) Soto's Syndrome is a rare inherited disorder characterized by abnormally large birth weight and excessive growth (over the 90th percentile) during the first 2 to 3 years of life. Physical characteristics may include an abnormally large and long head, a slight bulge of the forehead, large hands and feet, wide spread eyes (hypertelorism), and/or downslanting eyes. Other symptoms of Soto's Syndrome may include clumsiness, an awkward gait, and/or mild developmental retardation. (For more information on this disorder, choose "Soto" as your search term in the Rare Disease Database.) Wermer syndrome (Type I Multiple Endocrine Neoplasia or Polyendocrine Adenomatosis) is a rare inherited disorder characterized by excessive growth, multiple tumors, and/or excessive hormone secretion. The symptoms of Wermer Syndrome may include diarrhea and abdominal pain. Children with this disorder may have low blood sugar (hypoglycemia); adults may have peptic ulcers. Occasionally epileptic seizures may also occur. Therapies: Standard Acromegaly is usually treated by the partial or total surgical removal of the pituitary gland. This surgical procedure may also be supplemented by radiation treatment (proton beam, heavy particle, and supravoltage irradiation). If the entire pituitary gland is removed, lifelong hormonal replacement therapy is essential. Growth hormone suppressors (drugs that depress the production of growth hormone) have been used including the female sex hormones estrogen or medroxyprogesterone, the phenothiazine derivative chlorpromazine. Somatostatin (Sandostatin), the natural body substance that inhibits the secretion of growth hormone, is also used as a treatment for Acromegaly. Sandostatin has been found to be effective in 50 to 60 percent of cases of Acromegaly. In mild cases of Acromegaly or in elderly people with this disorder, dopamine agonists such as bromocriptine have been found to reduce growth hormone levels when used as an adjunctive therapy (along with other drugs). Therapies: Investigational Treatment of Acromegaly with a somatostatin analog (SMS 201-995), known as "selective mini-somatostatin" can significantly lower the mean plasma growth hormone levels when given preoperatively. This drug is able to shrink invasive pituitary macroadenomas and improve surgical remission rates. Treatment with this somatostatin analog is available in many research-oriented medical centers within the United States. More research is needed before this drug can be approved by the FDA. This disease entry is based upon medical information through February 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Acromegaly, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1234-1236. TEXTBOOK OF ENDOCRINOLOGY, 8TH ED.: Jean D. Wilson and Daniel W. Foster, Editors; W.B. Saunders Co., 1992. Pp. 268-290. ACROMEGALIC HEART DISEASE: INFLUENCE OF TREATMENT OF THE ACROMEGALY ON THE HEART: R. P. Hayward, et al.; Quarterly Journal Med (January 1987: issue 62(237)). Pp. 41-58. THE PATHOGENESIS OF ACROMEGALY: CLINICAL AND IMMUNOCYTOCHEMICAL ANALYSIS IN 75 PATIENTS: E.R. Laws, Jr., et al.; Journal Neurosurg (July 1985: issue 63(1)). Pp. 35-38. SOMATOSTATIN PROVES EFFECTIVE IN TREATING RESISTANT ACROMEGALY: Andrea J. Clark; Research Resources Reporter (April 1988). Pp. 5-7. SOMATOMEDIN-C LEVELS IN TREATED AND UNTREATED PATIENTS WITH ACROMEGALY: F. Roelfsema, et al.; Clin Endocrinol (Oxford) (February 1987: issue 26(2)). Pp. 137-144. ACROMEGALY: J.D. Nabarro; Clin Endocrinol (Oxford) (April 1987: issue 26(4)). Pp. 481-512. ACROMEGALY, Shlomo Melmed, M.B., CH.B., N Eng J Med, (April 5, 1990, issue 322 (14)). Pp. 966-977. Acromegaly91 <1pagetitle 51: Acromegaly 03424.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 483: ACTH Deficiency _________________________ ** IMPORTANT ** It is possible the main title of the article (ACTH Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Adrenocorticotropic Hormone Deficiency, Isolated Information on the following disorders may be found in the Related Disorders section of this report: Addison's Disease Adrenal Hyperplasia, Congenital Adrenal Insufficiency, Secondary General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. ACTH Deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure (hypotension). The pituitary hormone called "adrenocorticotropic hormone" (ACTH) is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. Symptoms ACTH Deficiency is a very rare disorder that usually starts during adulthood, although a few cases have begun during childhood. Symptoms include weight loss, lack of appetite (anorexia), muscle weakness, nausea and vomiting, and low blood pressure (hypotension). Low blood levels of sugar and sodium and high potassium levels (hypoglycemia, hyponatremia and hyperkalemia) usually occur. The pituitary hormone ACTH may be undetectable in blood tests, and the level of the hormone cortisol is abnormally low. Concentration of the adrenal cortex hormones 17-hydroxy- and 17-ketosteroid, are also abnormally low in the urine. Some adrenal hormones which are decreased are precursors of male sex hormones and are also known as "androgens". Although males with this disorder usually have a normal hair pattern, females have very little pubic and underarm (axillary) hair. Skin pigmentation is decreased in most cases, but may be normal or increased in others. Emotional symptoms may range from depression to psychosis. Causes The exact cause of ACTH Deficiency is unknown. A defect in the brain's hypothalamus or in the pituitary gland may cause the deficiency. Underproduction of ACTH causes the adrenal cortex to produce insufficient levels of hormones, which thus causes the symptoms. Affected Population Symptoms of ACTH Deficiency usually only occur in adults, but the disorder may be diagnosed biochemically in infancy. The disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders may be similar to those of ACTH Deficiency. Comparisons may be useful for a differential diagnosis: Congenital Adrenal Hyperplasia (CAH) is a group of disorders resulting from defective synthesis of the corticosteroid hormones of the adrenal gland. The adrenal gland becomes enlarged. The adrenal gland produces "male" sex hormones (androgens) in both males and females because these are overproduced in certain forms of CAH. The external genitals of some females with this disorder become masculinized to various degrees. Lack of glucocorticoids, especially cortisol, causes various metabolic problems. Lack of mineralocorticoids, primarily aldosterone, causes salt and water imbalances which may be life threatening. (For more information on this disorder, choose "Adrenal Hyperplasia" as your search term in the Rare Disease Database.) Addison's Disease (primary adrenal insufficiency) usually develops later in life. It is characterized by chronic diminished adrenocortical function. The resulting deficiencies of glucocorticoids and mineralocorticoids cause weakness, low resistance to physiological stress, metabolic abnormalities, and circulatory insufficiency. Many Addison's patients have sufficient levels of these corticosteroids to permit adequate functioning under normal circumstances. Even mild physiologic stress, however, can precipitate an Addisonian crisis consisting of circulatory collapse and, if untreated, death. With replacement of the essential adrenal hormones, Addison's patients can lead a normal life. (For more information on this disorder, choose "Addison" as your search term in the Rare Disease Database.) Secondary Adrenal Insufficiency results from insufficient production or release of the pituitary hormone ACTH. It may be caused by prolonged corticosteroid therapy. ACTH production doesn't return to normal for several months after completion of the therapy. Cancers such as adenomas and granulomas of the pituitary gland and subsequent tissue death (necrosis) of this gland after a pregnancy also may cause adrenal insufficiency. Therapies: Standard Treatment of ACTH Deficiency consists of replacement of the hormone either with cortisone or synthetic ACTH. With therapy, patients with ACTH Deficiency can lead a normal life. Therapies: Investigational This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on ACTH Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 National Digestive Diseases Information Clearinghouse Box NDDIC Bethesda, MD 20892 (301) 468-6344 The Endocrine Society 9650 Rockville Pike Bethesda, MD 20205 (301) 530-9660 References INTERNAL MEDICINE, 2nd ed.: Jay H. Stein, et al., eds.; Little, Brown, 1987. P. 1899. ACTH Deficiency pagetitle 483: ACTH Deficiency 03425.TXT Copyright (C) 1992 National Organization for Rare Disorders, Inc. 894: Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) _________________________ ** IMPORTANT ** It is possible the main title of the article (Acute Posterior Multifocal Placoid Pigment (APMPPE)) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms APMPPE Information on the following diseases can be found in the Related Disorders section of this report: Retinitis Pigmentosa General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the Resources section of this report. Acute Posterior Multifocal Pigment Epitheliopathy (APMPPE) is a rare acquired eye disorder. Major symptoms include rapid temporary loss of vision due to disease of the retinal pigment cells. Symptoms APMPPE is characterized by multiple flat, yellow-white lesions of the posterior part of the inner eye at the pigment cell level of the retina. There are usually signs of inflammation in the veins of the retina which subside without treatment. In some cases the resulting vision loss can be permanent, but in most cases the disorder is characterized by rapid but temporary loss of vision. Causes The exact cause of APMPPE is not known. Researchers suspect that it may be caused by a virus. It can subside without treatment or it may reoccur at any time. The viruses may stay dormant in humans for extended periods of time, then for reasons yet unknown, may unexplainably become reactivated. Affected Population APMPPE affects males and females of all ages in equal numbers. It is a very rare disorder. Related Disorders Symptoms of the following disorders can be similar to those of APMPPE. Comparisons may be useful for a differential diagnosis. Retinitis Pigmentosa (RP) is one of a group of diseases causing degeneration of the retina. When the retina degenerates, as in Retinitis Pigmentosa, the vision decreases and may occasionally be lost. One of the earliest symptoms is difficulty seeing at night or in dimly lit places. This is slowly followed by tunnel vision. The rate and extent of progression is extremely variable, but RP does not occur with the sudden onset of APMPPE. (For more information on this disorder, choose "Retinitis Pigmentosa" as your search term in the Rare Disease Database.) Therapies: Standard Treatment of APMPPE is symptomatic and supportive. Very often vision returns without specific treatment. Therapies: Investigational This disease entry is based upon medical information available through April 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on APMPPE, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Vision Foundation, Inc. 818 Mt. Auburn St. Watertown, MA 02172 (617) 926-4232 The Association for Macular Diseases 210 E. 64th St. New York, NY 10021 (212) 605-4719 Macular Diseases, Juvenile, contact: Richard A. Lewis, M.D. Dept. of Ophthalmology Baylor College of Medicine One Baylor Plaza Houston, TD 77030 (713) 799-5942 NIH/National Eye Institute (NEI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 References ACUTE POSTERIOR MULTIFOCAL PLACOID PIGMENT EPITHELIOPATHY; T.M. Goen, et al; J Am Optom Assoc (February, 1987, issue 58 (2)). Pp. 112-117. ACUTE POSTERIOR MULTIFOCAL PIGMENT EPITHELIOPATHY; T. Autzen, et al; Acta Ophthalmof (June, 1986, 64 (3)). Pp. 267-270. ACUTE POSTERIOR MULTIFOCAL PIGMENT EPITHELIOPATHY ASSOCIATED WITH DIFFUSE RETINAL VASCULITIS AND LATE HEMORRHAGIC MACULAR DETACHMENT; M Isashiki, et al; Br J Ophthalmol (April, 1986, issue 70 (4)). Pp. 255-259. Acute Posterior Multifocal Placoid Pigment Epitheliop...y (APMPPE) pagetitle 894: Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) 03426.TXT Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 584: Adams-Oliver Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of this article (Adams-Oliver Syndrome) is not the name you expected. Please check the SYNONYM list to find the alternate names and disorder subdivisions covered by this article. Synonyms Absence Defect of Limbs, Scalp and Skull Hemimelia and Scalp-Skull Defects Scalp-Skull and Limbs, Absence Defect of Information on the following disorders can be found in the Related Disorders section of this report: Ectrodactyly (Split-Hand Deformity) Holt-Oram Syndrome (Heart-Hand Syndrome; Atriodigital Dysplasia) Localized Absence of Skin (Aplasia Cutis Congenita) General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your physician and/or the agencies listed in the "Resources" section of this report. Adams-Oliver Syndrome is a very rare hereditary disorder characterized by bone abnormalities in the hands or feet in addition to defects in the scalp and skull. Symptoms Adams-Oliver Syndrome is characterized by the absence of areas in the skull and bald ulcerated areas of overlying scalp. These skull and scalp abnormalities usually heal spontaneously during the first few months of life, but in a few cases plastic surgery may be necessary. Limb abnormalities may vary in severity. Fingers and toes may be absent or shorter than normal, and the longer bones in the hand (metacarpals) may also be absent. In some severe cases, the legs below the midcalf may be absent. Causes Adams-Oliver Syndrome is a hereditary disorder inherited through autosomal dominant genes. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Adams-Oliver Syndrome is a very rare disorder present at birth. It affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can resemble those of Adams-Oliver Syndrome. Comparisons may be useful for a differential diagnosis: Ectrodactyly (Split-Hand Deformity) is a genetic disorder characterized by the absence of one or more fingers or toes. The remaining fingers or toes may grow together. This deformity usually occurs either in both hands or both feet. Holt-Oram Syndrome (Heart-Hand Syndrome; Atriodigital Dysplasia) is a genetic disorder consisting of heart disease and arm abnormalities. Often, the forearm, fingers and wrists are deformed. Although some affected individuals may have limb defects only, they may pass the more severe form of the syndrome to their offspring. Other skeletal defects can occur, but these may be so slight they are often not noticed. (For more information, choose "Holt-Oram" as your search term in the Rare Disease Database.) Localized Absence of Skin (Aplasia Cutis Congenita) affects the scalp, usually at the crown of the head or near the midline. A skin ulcer may develop with a membrane covering the underlying tissue. A crust forms then heals in a few weeks, leaving a fine hairless scar. In rare cases, this condition may involve the trunk and limbs, particularly the lower part of the legs. Therapies: Standard Treatment of Adams-Oliver Syndrome may consist of surgery in rare cases when healing does not occur spontaneously. Other treatment is symptomatic and supportive. Genetic counseling may be helpful for families of patients with Adams-Oliver Syndrome. Therapies: Investigational This disease entry is based upon medical information available through November 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Adams-Oliver Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 For information on genetics and genetic counseling referrals, please contact: Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 References CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES: J.P. Fryns; Journal Med Genet (August 1987: issue 24(8)). Pp. 493-496. MENDELIAN INHERITANCE IN MAN, 7th ed: Victor A. McKusick; Johns Hopkins University Press, 1986. P. 4. Adams-Oliver Syndrome pagetitle 584: Adams-Oliver Syndrome 03427.TXT ,Copyright (C) 1985, 1986, 1988, 1991, 1993 National Organization for Rare Disorders, Inc. 46: Addison's Disease _________________________ ** IMPORTANT ** It is possible that the main title of the article (Addison's Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Adrenal Hypoplasia Adrenocortical Hypofunction Adrenocortical Insufficiency Chronic Adrenocortical Insufficiency Primary Adrenal Insufficiency Primary Failure Adrenocortical Insufficiency Information on the following diseases can be found in the Related Disorders section of this report: Adrenoleukodystrophy Amyloidosis ACTH Deficiency Cushing's Syndrome Schmidt Syndrome Adrenal Hyperplasia, Congenital (CAH) General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Addison's Disease is a rare disorder characterized by chronic, usually progressive, insufficient functioning of the outer layer of the adrenal glands (adrenal cortex). Deficiencies of cortisol and aldosterone (hormones manufactured in the adrenals) result in low levels of sodium and chloride in the blood and body tissues, and high levels of potassium (electrolyte imbalance) in the body. Increased excretion of water and low blood pressure (hypotension) can lead to dehydration (extremely low levels of water in the body). Major symptoms of Addison's Disease include fatigue, gastrointestinal discomfort, and changes in skin color (pigmentation). Symptoms The early symptoms of Addison's Disease may include: weakness, fatigue, loss of appetite (anorexia), increased water excretion, low blood pressure (hypotension), and darkened color of scars, skin folds, and/or mucous membranes (hyperpigmentation). Black freckles may appear on the head and shoulders. Later symptoms of Addison's Disease may include: nausea, dehydration as a result of vomiting and diarrhea, dizziness, and/or the inability to withstand exposure to cold temperatures. Other symptoms may also include: episodes of unconsciousness and/or fainting (syncopal attacks), general indifference to the events of daily living (apathy), mental confusion, fever, abdominal pain, and/or low blood sugar (hypoglycemia). An acute life-threatening state of extreme insufficiency of adrenocortical hormones (adrenal or "Addisonian" crisis) may occur in people with Addison's Disease. This crisis may begin as a sudden loss of strength, severe pain in the abdomen, lower back, and/or kidney failure. Causes The exact cause of Addison's Disease and the associated loss of function of the adrenal cortex is not known. Approximately 75 percent of cases of Addison's Disease are thought to be autoimmune related. Autoimmune disorders occur when the body's natural immune defenses (antibodies, lymphocytes, etc.), against invading organisms mistakenly attack perfectly healthy tissue. Other cases of Addison's Disease may be caused by the partial destruction of the adrenal cortex due to other disorders including tuberculosis, the growth of a tumor, and/or the abnormal accumulation of a fatty-like substance within the adrenals (Amyloidosis). Acute infection, trauma, surgery, and/or sodium loss caused by heavy sweating can trigger an adrenal crisis. (For more information on these disorders, choose "Tuberculosis" and/or "Amyloidosis" as your search terms in the Rare Disease Database.) Affected Population Addison's Disease affects males and females in equal numbers and may occur at any age. Approximately 4 in 100,000 people in the United States are affected with Addison's Disease. Related Disorders Symptoms of the following disorders can be similar to those of Addison's Disease. Comparisons may be useful for a differential diagnosis: Adrenoleukodystrophy is a rare inherited metabolic disorder characterized by abnormally high levels of very long chain fatty acids (VLCFA) in the blood plasma and tissues of the body. This results in the progressive loss of the fatty covering (myelin sheath) on nerve fibers within the brain (cerebral demyelination) and the degeneration of the adrenal glands (adrenal atrophy). Symptoms of Adrenoleukodystrophy may include: progressive spastic partial paralysis (paraparesis), an impaired ability to coordinate muscle movement (ataxia), and/or muscular rigidity (hypertonia). The symptoms of decreased adrenal gland function associated with Adrenoleukodystrophy may include: low blood pressure (hypotension), generalized weakness, fatigue, excessive loss of water from body tissues (dehydration), weight loss, an abnormally small heart (microcardia), an increase of color (pigmentation) in the skin, and/or a decrease in the secretion of adrenal hormones. (For more information on this disorder, choose "Adrenoleukodystrophy" as your search term in the Rare Disease Database.) Amyloidosis is the term applied to a group of metabolic disorders in which amyloid (a fibrous protein) accumulates in tissues of the body. The excessive accumulation of amyloid causes the affected organ to malfunction; accumulation may be localized, general, or systemic. Secondary Amyloidosis commonly impairs the function of the kidneys, liver, spleen, and/or adrenal glands. The symptoms of Amyloidosis are varied and relate to the organs that have an amyloid buildup. Generally the involved organs become enlarged and have a firm, waxy appearance. (For more information on this disorder, choose "Amyloidosis" as your search term in the Rare Disease Database.) ACTH Deficiency is a rare endocrine disorder characterized by decreased or absent adrenocorticotropic hormone (ACTH) which is normally produced in the pituitary gland. The adrenal glands produce abnormally low levels of cortisol and steroid hormones (secondary adrenal insufficiency). The symptoms of this disorder may include: weight loss, profound loss of appetite (anorexia), muscle weakness, nausea, vomiting, and/or low blood pressure (hypotension). (For more information on this disorder, choose "ACTH Deficiency" as your search term in the Rare Disease Database.) Cushing's Syndrome is a rare disorder of the outer layers of the adrenal glands (adrenal cortex) that is associated with many symptoms resulting from excess amounts of corticosteroids produced by the adrenal cortex. Typically people with Cushing's Syndrome gain excessive weight; fat deposits result in a rounded shape to the face, neck, and trunk of the body. Typically the legs and arms remain slender. Other symptoms include: redness to the face, thin and fragile skin, slow healing, and/or reddish-blue stretch marks on the arms, breasts, abdomen, and thighs. Low blood sugar (hyperglycemia), severe weakness and fatigue are common in people with Cushing's Syndrome. (For more information on this disorder, choose "Cushing" as your search term in the Rare Disease Database.) Schmidt Syndrome is a rare disorder characterized by multiple hormone deficiencies, the presence of Addison's Disease, and decreased activity of the thyroid gland. Others glands that may demonstrate decreased levels of hormone secretion include the parathyroids, testes or ovaries, and/or the pancreas. A Vitamin B12 deficiency may also occur. Symptoms of Schmidt Syndrome may include a general loss of energy, muscle weakness, anemia, fatigue, shortness of breath, loss of hair (alopecia), and/or the appearance of white spots on various parts of the body (vitiligo). (For more information on this disorder, choose "Schmidt" as your search term in the Rare Disease Database.) Congenital Adrenal Hyperplasia (CAH) is a group of rare endocrine disorders resulting from a defect in the production of hormones in the adrenal glands (adrenal corticosteroids). The adrenal glands become enlarged and produce abnormally excessive amounts of androgens resulting in abnormalities of sexual development. Low levels of hormones, particularly cortisol, may cause a variety of metabolic problems and symptoms of Addison's Disease. Symptoms may include: weakness, nausea, vomiting, anorexia, irritability, depression, darkening of the skin, and/or low blood pressure. (For more information on this disorder, choose "Congenital Adrenal Hyperplasia" as your search term in the Rare Disease Database.) Therapies: Standard The chronic adrenal insufficiency that characterizes Addison's Disease is treated with replacement therapy that consists of cortisone and fludrocortisone; these replacement hormones are taken with meals. The dosage of these drugs should be increased during infection, trauma, surgery, and other stress to prevent an acute adrenal crisis. An adrenal crisis demands immediate intravenous administration of high-dose hydrocortisone succinate or phosphate and fluid and electrolyte replacement; a short-term course of other drugs called vasopressors may be needed to maintain blood pressure. Patients should carry a card or wear a tag stating that they have Addison's disease. Therapies: Investigational The National Institute of Diabetes, Digestive & Kidney Diseases (NIDDK) is conducting a study on Addison's Disease. For more information have your physician contact: Joan Chamberlain, Deputy Director NIH/National Institute of Diabetes, Digestive & Kidney Diseases Building 31, Room 9A-04 9000 Rockville Pike Bethesda, Maryland 20892 This disease entry is based upon medical information available through March 1993. Since NORD'S resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resource section for the most current information about this disorder. Resources For more information on Addison's Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation, Inc. 500 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 National Digestive Diseases Information Clearinghouse P.O. Box NDDIC Bethesda, MD 20892 (301) 468-6344 References CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1340, 1460-61. TEXTBOOK OF ENDOCRINE PHYSIOLOGY, James E. Griffin, and Sergio R. Ojeda., Editors; Oxford University Press, 1988. Pp. 258-9. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. P. 36. DELAYED DIAGNOSIS OF ADDISON'S DISEASE. J.R. Paterson, et al.; Ann Clin Biochem (July, 1990; 27(PT 4)). Pp. 378-81. SCHMIDT'S SYNDROME: A RARE CAUSE OF PUBERTY MENORRHAGIA. J.B. Sharma, et al.; Int J Gynaecol (December, 1990; 33(4)). Pp. 373-75. HYPERKALAEMIC PERIODIC PARALYSIS: A RARE PRESENTATION OF ADDISON'S DISEASE. J.M. Sowden, et al.; Postgrad Med J (April, 1989; 65(762)). Pp. 238-40. Addison's Disease -pagetitle 46: Addison's Disease 03428.TXT Copyright (C) 1991 National Organization for Rare Disorders, Inc. 825: Adie Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Adie Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Adie's Tonic Pupil Holmes-Adie Syndrome Tonic Pupil Syndrome Adie's Syndrome Papillotonic Psuedotabes Adie's Pupil Information on the following disorders can be found in the Related Disorders section of this report: Third Nerve Lesions Peripheral Neuropathy Transdermal Scopolamine General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Adie Syndrome is a rare neurological disorder affecting the pupil of the eye. In most patients with Adie Syndrome, the pupil is dilated (larger than normal) and slow to react to light on nearby objects. In some patients, however, the pupil may be constricted (smaller than normal) rather than dilated. Absent or poor reflexes are also associated with this disorder. Adie Syndrome is not progressive, life threatening, nor does it cause disability. Symptoms Adie Syndrome is a rare neurological disorder usually affecting the pupil of one eye or occasionally both eyes. Normally the pupil constricts (gets smaller) in the presence of bright light or when focusing on nearby objects. The pupil normally dilates (opens wider) in dim light or darkness, when focusing on far away objects, or when a person is excited. In Adie Syndrome these normal reactions to light and darkness do not occur. In most patients with Adie Syndrome the affected pupil is larger than normal (dilated) all the time and does not constrict very much or at all in response to light. The pupil constricts slowly when focusing on objects close to view. In some patients with Adie's Syndrome, however, the opposite is true; the pupil remains smaller than normal (constricted) all the time. The majority of patients with Adie Syndrome have absent or poor reflexes as well. Headache, facial pain, blurry vision, or emotional fluctuations may occur in some patients. The disorder is not progressive and does not ordinarily cause severe disability. In Adie Syndrome, muscles which cause the pupil of the eye to dilate or contract remain tensed (tonic), thereby creating the symptoms. Lesions to a certain part of the third nerve cells may cause the lack of reflexes. Scientists have identified lesions in certain nerves in some patients, but do not know what causes them to occur. Although the exact cause of Adie Syndrome is unknown, it may be inherited as an autosomal dominant trait. Human traits, including the classic genetic diseases, are the product of the interactions of two genes, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Adie Syndrome is a rare neurological disorder affecting the pupil of the eye. It occurs in both males and females but most often in females between the ages of 25 to 45. Related Disorders Symptoms of the following disorders can be similar to those of Adie Syndrome. Comparisons may be useful for a differential diagnosis: Third nerve lesions can cause a dilated pupil; tests can determine whether the dilation is due to Adie Syndrome or to a lesion of the third nerve unrelated to Adie Syndrome. Peripheral Neuropathy may cause an unreactive pupil, as may certain other disorders. The symptoms of Peripheral Neuropathy are produced by disease of a single nerve, or many nerves simultaneously. These symptoms may involve sensory, motor, reflex, or blood vessel function. Lesions, usually degenerative, may occur in the nerve roots or peripheral nerves. (For more information on this disorder, choose "peripheral neuropathy" as your search term in the Rare Disease Database). Aside from diseases many other factors can cause pupil dilation. Certain drugs can cause the pupil to dilate. For example, transdermal scopolamine is a drug for motion sickness which comes in the form of a patch. If a patient accidentally gets the product in his or her eye (e.g., not washing the hands when finished with the kit) this may cause a dilated pupil. Other drugs can cause dilated pupils or a delay in the response of eye muscles to light and darkness. Therapies: Standard Diagnosis of Adie Syndrome can be made by using dilute pilocarpine, a drug in the form of eyedrops, to test the pupil's reaction to light. The Adie Syndrome pupil, which does not constrict in response to light, will constrict in response to dilute pilocarpine. Glasses may be prescribed to correct blurred vision. Therapy using dilute pilocarpine may improve poor depth perception (stereoacuity) in some patients. Genetic counseling may be of benefit for parents and their families. Other treatment is symptomatic and supportive. Therapies: Investigational Research of Adie Syndrome is ongoing. Scientists are trying to identify the underlying cause of the disorder so that better treatments may be developed. This disease entry is based upon medical information available through February 1991. Since NORD's resources are limited, it is possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Adie Syndrome, please contact: National Organization for Rare Disorders P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Eye Institute (NEI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1988. Pp. 2114-2115. MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick; John Hopkins University Press, 1990. Pp. 31. ACCOMMODATIVE FLUCTUATIONS IN ADIE'S SYNDROME. K. Ukai and S. Ishikawa; Ophthalmic Physiol Opt (Jan 1989; issue 9 (1)). Pp. 76-78. MIOTIC ADIE'S PUPILS. M. L. Rosenberg; J Clin Neuro Ophthalmol (Mar 1989; issue 9 (1)). Pp.43-45. ON THE CAUSE OF HYPOREFLEXIA IN THE HOLMES-ADIE SYNDROME. J. M. Miyasaki, et al.; Neurology (Feb 1988; issue 38 (2)). Pp. 262-265. THE THERAPY OF ADIE'S SYNDROME WITH DILUTE PILOCARPINE HYDROCHLORIDE SOLUTIONS. A. J. Flach and B. J. Dolan; J Ocul Pharmacol (Winter 1985; issue 1 (4)). Pp. 353-362. Adie Syndrome pagetitle 825: Adie Syndrome 03429.TXT IoICopyright (C) 1986, 1987, 1990 National Organization for Rare Disorders, Inc. 97: Adrenal Hyperplasia, Congenital _________________________ ** IMPORTANT ** It is possible that the main title of the article (Congenital Adrenal Hyperplasia) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Adrenogenital Syndrome Adrenal Virilism Hydroylase Deficiency CAH DISORDER SUBDIVISIONS 21-Hydroxylation Deficiency 11-Hydroxylation Deficiency Pregnenolone Deficiency 3-Beta Hydroxysteroid Dehydrogenase Deficiency, also known as 3-Beta-HSD 17-Hydroxylation Deficiency, also known as 17 alpha hydroxylase Deficiency 17,20-Lyase Deficiency 17-Beta Hydroxysteroid Deficiency, also known as 17-Ketosteroid Reductase Deficiency or 17-Beta-HSD Deficiency Corticosterone Methyloxidase Deficiency, Types I and II General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Congenital Adrenal Hyperplasia (CAH) is a group of disorders resulting from defective synthesis of the corticosteroid hormones of the adrenal gland. The adrenal gland becomes enlarged because it tries to produce more and more of the hormones to compensate for their lack of effectiveness. The adrenal gland produces "male" sex hormones (androgens) in both males and females; because these are overproduced in certain forms of CAH, the external genitalia of some females with this disorder are masculinized to various degrees. Lack of glucocorticoids, especially cortisol, causes various kinds of metabolic problems. Lack of mineralocorticoids, primarily aldosterone, causes salt and water imbalances. In some cases, this can be fatal. Symptoms As mentioned previously, congenital adrenal hyperplasia is characterized by defective synthesis of cortisol and related hormones, and enlargement of the adrenal gland in compensation. In several kinds of CAH, enlarged adrenal glands then produce abnormally large amounts of androgens. Abnormalities of sexual development may be the most conspicuous consequences of this, particularly in females. Deficiencies of glucocorticoids, however, occur in some cases despite the hypertrophy of the adrenal gland, causing symptoms of Addison's disease. These include weakness, nausea, vomiting, lack of appetite, irritability, depression, darkening or pigmentation of the skin, low blood pressure, lack of resistance to cold, and inability to respond physiologically to physical stress. Even patients who produce adequate corticosteroids under normal conditions cannot usually meet the increased requirement under stressful conditions. Addisonian crisis, which is life threatening, can then occur. A deficiency of aldosterone can lead to salt depletion, dehydration, and circulatory collapse. (For more information on this disorder, choose Addison's disease as your search term in the Rare Disease Database.) The different forms of CAH will be discussed in the following paragraphs. They represent defects in different steps of the synthesis of corticosteroids, usually hydroxylation reactions at certain positions on the original cholesterol molecule. (The numbers denote the various positions.) All CAH patients excrete elevated quantities of intermediate molecules in the production of cortisol, although the particular molecules vary according to the step at which the synthesis is blocked. 21-HYDROXYLATION DEFICIENCY A defect in 21-Hydroxylation occurs in 95% of persons with congenital adrenal hyperplasia. Two forms occur, one in which salt metabolism is normal, and another in which the body excretes large quantities of salt. Female infants are born with abnormalities of the external genitalia. These can range from mild enlargement of the clitoris to fusion of the labia so that the child seems to have a male phallus with undescended testes. Internally, all the female reproductive organs are present: uterus, ovaries, and a vagina that may or may not be sealed off from the exterior by fusion of the labial folds. Often, such children are raised as boys until about age 4, when the smaller relative size of the phallus becomes apparent. In some extreme cases, genetic females have lived their entire lives as males. Such individuals are known as pseudohermaphrodites. Untreated females with CAH do not menstruate, and they are infertile. They tend to grow rapidly at first, but stop growing relatively early, thus remaining rather short. The disorder can cause serious psychological difficulties. Male infants appear normal; they are usually not identified until age 3 or 4, when unusually rapid growth and sexual development, the appearance of pubic and axillary hair, enlargement of the penis, deepening of the voice, and acne occurs. The disorder nevertheless prevents normal puberty, testicular development, and sperm production because the high levels of androgen suppress hormones required for these processes to take place. The fact that the disorder is not immediately apparent in boys places them at some risk, since a crisis of potentially fatal gluco- or mineralocorticoid deficiency can occur without any warning. About a third of CAH patients with defective 21-hydroxylation have a deficiency of aldosterone, the hormone responsible for maintaining proper levels of salt in the body. These patients loose salt in their urine; water follows the salt out of the body, and the patient may become dehydrated. The blood volume decreases and blood pressure falls. Patients with this form of CAH develop symptoms 5 to 10 days after birth. They include lethargy, vomiting, diarrhea, and circulatory collapse. Untreated, this form of the disorder is rapidly fatal. 11-HYDROXYLATION DEFICIENCY A defect in 11-hydroxylation is less common than the 21-hydroxylation defect. Females are virilized as in defective 21-hydroxylation. Both males and females additionally have hypertension. They usually have normal corticosteroid levels, although these may fail to respond adequately to physiologic stress. PREGNENOLONE DEFICIENCY Pregnenolone is an early precursor of all the corticosteroids, including the androgens. Defective synthesis of this substance therefore causes adrenal insufficiency and a lack of virilization in both boys and girls. Because even the testes seem to be unable to produce testosterone, and male fetuses require androgens to develop male external genitalia, afflicted male infants resemble females at birth. The lack of gluco- and mineralocorticoid hormones has led to death during infancy in undiagnosed cases. This form of congenital adrenal hyperplasia is extremely rare and occurs primarily in individuals of Japanese extraction. 3-BETA-HSD DEFICIENCY A deficiency of 3-Beta-Hydroxysteroid Dehydrogenase (3-Beta-HSD) also occurs early in the chain of reactions required to produce adrenal steroid hormones. Androgens, glucocorticoids, and mineralocorticoids all fail to be synthesized, and affected infants usually survive no more than a few hours. Boys are born with female or ambiguous external genitalia. Females may have slight virilization because of the presence of a weak androgen. A few patients with incomplete forms of this defect have been described. These fail to show symptoms until later in childhood (first menstruation between the ages of 4 and 6, enlarged clitoris, acne, and advanced maturation of the skeleton), or until adulthood. This late onset form is characterized by menstrual irregularity and hirsutism (unusual hairiness). The variability of expression of this defect suggests that several different genes are involved in this step of steroid synthesis. 17-HYDROXYLATION DEFICIENCY The defect of 17-Hydroxylation (17-alpha hydroxylase deficiency) usually goes undetected until adolescence. Adrenal gland and testes fail to produce androgens, while the ovaries produce no estrogens. Because genetic males are not exposed to androgens during fetal development, they are born with female external genitalia, although testes are buried within the abdominal cavity. Failure to menstruate or to develop secondary sexual traits such as breasts or body hair, as well as hypertension and low blood levels of potassium, indicative of elevated levels of aldosterone, are characteristic. Undescended testes in males may become malignant later in life. This defect, too, may be expressed atypically. 17,20-LYASE DEFICIENCY In 17,20-Lyase Deficiency, only the sex steroids fail to be produced normally. Genetic males have female or ambiguous external genitalia. The adrenal glands remain normal in size, and gluco- and mineralocorticoids are produced adequately. Only 11 patients with this disorder, which appears to be inherited by an autosomal recessive mechanism, are known. 17-BETA HSD 17-Beta Hydroxysteroid Dehydrogenase Deficiency (which is also known as 17- Ketosteroid Reductase Deficiency and 17-Beta HSD) has similar manifestations to those of 17,20-Lyase Deficiency. Only the production of sex steroids is impaired, with male pseudohermaphroditis and no enlargement of the adrenal gland. This defect is either autosomal recessive or X-linked recessive. CORTICOSTERONE METHYLOXIDASE DEFICIENCY Corticosterone Methyloxidase Deficiency prevents the conversion of corticosterone to aldosterone, a reaction which normally occurs in two steps. This deficiency is classified as Type I and Type II, according to which of the two steps is impaired. SEverely affected infants are subject to significant and potentially fatal loss of salt and dehydration because of the absence of mineralocorticoids. The physiological response to sodium depletion is inadequate. Sex hormone production, however, is normal. This disorder exists during early infancy. Individuals with a moderate form tend to have short stature and drastic blood pressure reduction with changes in posture such as standing up (postural hypotension. Mild forms may be asymptomatic during adulthood. Causes Twenty-one-hydroxylase deficiency is transmitted from one generation to the next by an autosomal recessive mechanism. (Hereditary traits are usually determined by two analogous genes. In a recessive disorder, both genes are defective. If one is normal and one is defective, the individual is usually healthy. If both parents have one defective gene, each child has a 25% chance of inheriting the disorder. If an affected individual marries a carrier, each child has a 50% chance of inheriting the disorder.) The location on the chromosome of the defective gene is known. The other congenital adrenal hyperplasias are also autosomal recessive disorders. However, 17-Beta HSD can also be inherited as an x-linked recessive trait. (X-linked recessive traits are expressed predominantly in males. Females carry the gene on one of their two X chromosomes. The second X chromosome will "mask" the trait, however, if the trait is x-linked recessive. The trait is expressed in males because instead of a second X chromosome, they have a Y chromosome which does not "mask" the harmful gene. Affected males cannot transmit the trait to their sons.) Affected Population The incidence of 21-hydroxylase deficiency, one of the commoner CAHs, is estimated between 1 in 5000 and 1 in 15,000 in the United States and Europe. The other CAHs are much rarer. The disorder is far more common among the Eskimos. Related Disorders Addison's disease, or adrenal insufficiency, usually develops later in life, and is due to other causes. Virilization of female fetuses and/or children, or accelerated sexual maturation of males may also result from androgen producing tumors or ingestion by the mother of androgenic substances. The congenital absence of gonads, and cryptorchidism, or the failure of the testes to descend into the scrotal sacs, can also result in abnormal sexual development. Female pseudohermaphroditism is a disorder inherited through recessive genes, caused by an overproduction of adrenal "male" sex hormones (androgens). The disorder is characterized by obesity, a thick, short neck, protruding abdomen, and thin arms and legs. External sex organs vary in degrees of masculinization, ranging from enlargement of the clitoris to complete fusion of labia and scrotum and a common outlet for urethra and vagina. Severely masculinized females may be mistaken for males, while a milder form of the disorder appears after puberty as an absence of menstruation (amenorrhea), absence of breast development, excessive body hair (hirsutism), and increased muscle development similar to males. Noonan Syndrome is a genetic disorder that can affect both males and females. The condition is characterized by a lack of sexual development, short stature, possible mental retardation, a webbed neck, skeletal and/or heart defects, and various other inborn deformities. Persons with Noonan Syndrome have normal chromosomes, while their physical appearance is different from their peers. (For more information on this disorder, choose "Noonan" as your search term in the Rare Disease Database. Therapies: Standard In patients with Congenital Adrenal Hyperplasia, early diagnosis and determination of the genetic sex of the child are extremely important, both to prevent unexpected circulatory crises and to allow early modification of the external genitalia if necessary. Corticosteroid replacement therapy must continue throughout life. Glucocorticoids are replaced orally, with hydrocortisone, cortisol, prednisone, etc. This therapy supplies necessary hormones and regulates the production of androgens. Treated girls menstruate and may have normal pregnancies. In boys, androgen suppression permits normal puberty, development of the testes, and the production of viable sperm. Hydrocortisone therapy corrects for the mineralocorticoid deficiency as well in most cases, although sometimes intravenous preparations such as desoxycorticosterone acetate or fluorocortisol are necessary to maintain proper salt and water balances. A decrease in the quantity of androgens may cause some regression of enlarged genital structures, but in many cases, especially when therapy begins late, surgical reconstruction of the external genitalia of girls must be performed. Researchers have recently identified a less severe form of Adrenal Hyperplasia due to a more common genetic mutation which is called Nonclassical Adrenal Hyperplasia. Symptoms include infertility, premature sexual development, severe acne, excessive facial hair in women and short stature in men. These symptoms are all caused by excess androgen production starting at or before birth. Once identified, individuals with the defective genes in the nonclassical form of the disorder can be treated with cortisol orally to reverse most of the symptoms, including infertility. The nonclassical form of the disorder afflicts approximately 1 in 30 Ashkenazi Jews, 1 in 40 Hispanic persons, 1 in 50 Yugoslavians, and 1 in 300 Italians. Thus far, 1 in 100 people in the non-Jewish ethnic groups which have been studied have the nonclassical disorder. Therapies: Investigational Treatment of female fetuses affected with 21-Hydroxylase Deficiency has been started during early pregnancy with dexamethasone, and continued until birth. This experimental treatment suppressed the adrenal glands and the external sex organs were normal at birth. More research is needed before this treatment can be used more widely. Scientists are trying to treat pregnant women who are at risk of Hydroylase Deficiency in the fetus with deramethasone to achieve normal organ development in the infant. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Congenital Adrenal Hyperplasia, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Congenital Adrenal Hyperplasia (Division of The Magic Foundation) 409 Avenida Salvador San Clemente, CA 92672 (714) 361-1581 Congenital Adrenal Hyperplasia Support Group 10 County Highway, #4 Wrenshall, MN 55797 (218) 384-3863 The National Adrenal Diseases Foundation 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-513 Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Rd. Crewe CW1 1XN, England Telephone: (0270) 250244 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Ave. White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References Nelson, Don H. The Adrenal Cortex: Physiological Function and Disease. Volume XVIII in series: Major Problems in Internal Medicine. Chapter 10: Congenital adrenal hyperplasia and defects in biosynthesis of the corticosteroids. pp. 177-97. W.B. Saunders and Co., Philadelphia, PA: 1980. New, M.I. and L.S. Levine. Congenital Adrenal Hyperplasia. (In series: Monographs on Endocrinology, vol. 26.) Springer Verlag, New York: 1984. DIURNAL VARIATION IN BLOOD 17-HYDROXYPROGESTERONE CONCENTRATIONS IN UNTREATED CONGENITAL ADRENAL HYPERPLASIA: J. Slonim; Archives Dis Child (August 1984: issue 59(8)). Pp. 743-747. RECENT ADVANCES IN 21-HYDROXYLASE DEFICIENCY: M.I. New, et al.; Annual Rev Med (1984: issue 35). Pp. 649-663. PRENATAL TREATMENT OF CONGENITAL ADRENAL HYPERPLASIA RESULTING FROM 21-HYDROXYLASE DEFICIENCY: M. David, et al.; Journal Pediatr (November 1984: issue 105(5)). Pp 799, 803. Adrenal Hyperplasia, Congenital Jpagetitle 97: Adrenal Hyperplasia, Congenital 03430.TXT RqRCopyright (C) 1985, 1986, 1988, 1989, 1990, 1993 National Organization for Rare Disorders, Inc. 43: Adrenoleukodystrophy _________________________ ** IMPORTANT ** It is possible that the main title of the article (Adrenoleukodystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms ALD Addison-Schilder Disease Addison Disease with Cerebral Sclerosis Adrenomyeloneuropathy AMN Bronze Schilder's Disease Encephalitis Periaxialis Diffusa Flatau-Schilder Disease Melanodermic Leukodystrophy Myelinoclastic Diffuse Sclerosis Schilder Disease Schilder Encephalitis Siewerling-Creutzfeldt Disease Sudanophilic Leukodystrophy DISORDER SUBDIVISIONS Adult Onset ALD also known as Adrenomyeloneuropathy Childhood Adrenoleukodystrophy Neonatal Adrenoleukodystrophy Information on the following diseases can be found in the Related Disorders section of this report: Addison Disease Leukodystrophy, Canavan Leukodystrophy, Metachromatic Zellweger Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Adrenoleukodystrophy is a rare inherited metabolic disorder characterized by the loss of the fatty covering (myelin sheath) on nerve fibers within the brain (cerebral demyelination) and the progressive degeneration of the adrenal gland (adrenal atrophy). Adrenoleukodystrophy that is inherited as an X-linked genetic trait may begin in childhood or adulthood. However, Adrenoleukodystrophy that is inherited as an autosomal recessive genetic trait typically begins during infancy (neonatal period). Symptoms Adrenoleukodystrophy is a rare inherited disorder characterized by greatly increased levels of very long chain fatty acids (VLCFA) in the blood plasma and tissues of the body. These fatty acids accumulate in the brain (cerebral white matter) and the adrenal glands. A very small percentage of people with elevated VLCFA levels may have mild symptoms or no symptoms of Adrenoleukodystrophy. In other people the disorder may progress very slowly. Women who have the gene for Childhood or Adult-onset Adrenoleukodystrophy, but have no symptoms during childhood, may have elevated levels of VLCFA. In these women, the symptoms of Adrenoleukodystrophy may begin around the age of 30 years. These symptoms may include: progressive spastic partial paralysis (paraparesis); an impaired ability to coordinate muscle movement (ataxia); muscular rigidity (hypertonia); tingling or burning sensations in the arms and/or legs (mild peripheral neuropathy); abnormal reflexes of the foot and toes (plantar extensors); and/or urinary problems. There are typically no symptoms associated with adrenal gland malfunction in these women. Mental and sensory functions are generally not impaired. (For more information about these symptoms, choose "Ataxia" and "Peripheral Neuropathy" as your search terms in the Rare Disease Database.) The most common form of Adrenoleukodystrophy is the childhood form that affects only males. Females may be carriers of the Childhood Adrenoleukodystrophy gene but are usually without symptoms. Symptoms often first appear in boys between the ages of 4 and 8 years and may include: behavioral changes such as poor memory; increasingly poor school work; loss of emotional control; and/or dementia. Other symptoms may include: a jerky uncoordinated walk (ataxia); exaggerated reflex responses (hyperreflexia); muscle weakness on one side of the body (hemiparesis); difficulties with speech; hearing loss; and/or visual problems. A decrease in visual perception and the inability to recognize familiar objects or surroundings may also occur in children with Adrenoleukodystrophy (visual agnosia). The symptoms of decreased adrenal gland function associated with Adrenoleukodystrophy usually appear after the neurological symptoms of the disorder. Adrenocortical (outer layers of the adrenal gland) symptoms may include: low blood pressure (hypotension); generalized weakness; fatigue; excessive loss of water from body tissues (dehydration); weight loss; an abnormally small heart (microcardia); an increase of color (pigmentation) in the skin; and/or a decrease in the secretion of adrenal hormones in response to adrenocorticotropic hormone (ACTH) that is produced in the pituitary gland. More advanced neurologic symptoms of Adrenoleukodystrophy may include a progressive degeneration of the nerves of the eyes (optic atrophy) and loss of the fatty covering that surrounds nerve fibers in the brain (demyelination). Magnetic resonance imaging (MRI) may show lesions of the white matter of the lower and middle back portions of the brain (posterior occipital and parietal lobe). In the adrenal cortex, abnormally enlarged cells can be found in the inner and the thick middle layers. Adolescent or Adult-Onset Adrenoleukodystrophy, also called Adrenomyeloneuropathy, affects the spinal cord. This form of the disorder affects only males although females may be carriers of the gene. Symptoms usually begin between the ages of 21 and 35 years and may include progressive leg stiffness, partial spastic paralysis (paraparesis) of the legs and/or an impaired ability to coordinate muscle movement (ataxia). Sensory changes suggest that spinal cord nerve fibers and peripheral nerves have become damaged. Peripheral nerves comprise those nerves not in the spinal cord or brain. There may also be a decrease in the function of the adrenal cortex and/or testes. If neurological symptoms are absent, Adrenoleukodystrophy should be suspected in males who have decreased adrenal function with a family history of Addison's disease. Adult-Onset Adrenoleukodystrophy typically progresses more slowly than the childhood form of the disorder. However, it can ultimately result in deterioration of brain function. (For more information, choose "Addison" and "Ataxia" as your search term in the Rare Disease Database.) Neonatal Adrenoleukodystrophy is inherited as an autosomal recessive genetic trait. Both males and females are affected by this form of the disorder. The abnormalities of the brain and adrenal glands caused by Neonatal Adrenoleukodystrophy appear to be different from those caused by other types of Adrenoleukodystrophies. This can be demonstrated with microscopic tissue examination (pathological testing). The first symptoms of Neonatal Adrenoleukodystrophy begin when the child is born or shortly after. These symptoms may include: mental retardation; facial abnormalities; seizures; multiple developmental abnormalities of the brain (polymicrogyria); degeneration of the retina of the eyes; generalized muscle weakness (hypotonia); an enlarged liver (hepatomegaly); and/or abnormally low levels of adrenal hormones (adrenal insufficiency). In Neonatal Adrenoleukodystrophy there is destruction of the covering of the nerve cells in the white matter of the brain. There may also be nerve demyelination in the gray matter deep within the spinal cord. Specialized microscopic bodies that participate in metabolism of fats in the liver (hepatic perxisomes) may be absent or decreased in number. The concentration of pipecolic acid in the blood may be increased. Neonatal Adrenoleukodystrophy tends to progress rapidly. People who have only one of the pair of characteristic genes for Neonatal Adrenoleukodystrophy typically have no neurological or adrenal symptoms. Causes Adrenoleukodystrophy may be inherited as an X-linked or autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. The symptoms of Adrenoleukodystrophy may develop due to abnormal or absent peroxisomes (microbodies that participate in the metabolism of fats) in the liver. This causes a disturbance of fatty acid metabolism and results in the abnormal accumulation of very long chain fatty acids (VLCFAs). The excess amounts of saturated and unsaturated fatty acids are distributed throughout the tissues of the entire body, but tend to accumulate more in the white matter of the brain and in the adrenal cortex. The exact enzyme deficiency that prevents the breakdown of VLCFAs in Adrenoleukodystrophy is not known. Affected Population All forms of Adrenoleukodystrophy are rare in the United States. Childhood Adrenoleukodystrophy usually begins before age 10 (generally around age 7 years) and affects only males. Females may be carriers of Childhood Adrenoleukodystrophy but generally have no symptoms of this disorder. The onset of Adult Adrenoleukodystrophy is usually between the ages of 21 and 35 years. This form of the disorder also affects males only. Female heterozygotes for Adrenoleukodystrophy rarely experience symptoms. If symptoms do occur in these females, it is typically after the age of 30 years. The symptoms of Neonatal Adrenoleukodystrophy begin in the newborn child. This form of the disorder affects males and females in equal numbers. Related Disorders Symptoms of the following disorders can be similar to those of Adrenoleukodystrophy. Comparisons may be useful for a differential diagnosis: Addison's Disease is a rare disorder of the adrenal glands. In the majority of cases the cause is not known. Symptoms may result from chronic and progressive low level function (hypofunction) of the outer layers (cortex) of the adrenal gland resulting in deficiencies of the hormones cortisol and aldosterone. The deficiency of these hormones leads to low levels of sodium and chloride and high levels of potassium (electrolyte imbalance) in the blood. The imbalance of electrolytes causes increased water excretion, low blood pressure (hypotension), and abnormally low levels of water in the body (dehydration). The major symptoms of Addison's Disease may include fatigue, weakness, loss of appetite (anorexia), frequent urination, gastrointestinal discomfort, and changes in skin pigmentation. The symptoms of Addison's Disease often affect people with Adrenoleukodystrophy. (For more information on this disorder, choose "Addison" as your search term in the Rare Disease Database). Canavan's Leukodystrophy is another type of Leukodystrophy that affects the central nervous system. A chemical imbalance in the brain causes the progressive degeneration of nerves within the brain and spinal cord. This results in progressive mental deterioration accompanied by increased muscle tone (hypertonia), poor head control, an enlargement of the brain (megalocephaly), and blindness. Symptoms typically begin in infancy. Early symptoms of Canavan's Leukodystrophy may include general lack of interest in daily living (apathy), muscle weakness and floppiness (hypotonia), and the loss of previously acquired mental and motor skills. As the disease progresses, there may be spastic muscle contractions of the arms and legs and a lack of muscle strength in the neck. The brain may swell (megalocephaly) resulting in the failure of the bones in the skull to fuse normally and paralysis may occur. The infant may be more susceptible to respiratory tract infections due to the progressive loss of muscle strength in the chest. (For more information on this disorder, choose "Canavan's Leukodystrophy" as your search term in the Rare Disease Database). Metachromatic Leukodystrophy (MLD) is a rare inherited form of Leukodystrophy in which fat-like substances known as sulfatides accumulate in the tissues of the nervous system and other organs. This disorder is characterized by the loss of the covering on nerve fibers (myelin sheath). This may result in blindness, convulsions, muscle rigidity (hypertonia) and/or motor disturbances that may lead to paralysis and dementia. There is an infantile, juvenile and adult form of Metachromatic Leukodystrophy. Infantile Metachromatic Leukodystrophy is generally detected in the 2nd year of life, typically before 30 months of age. The juvenile form of this disorder has an onset between the ages of 4 and 10 years. Adult Metachromatic Leukodystrophy usually begins after 16 years of age. (For more information on this disorder, choose "Leukodystrophy, Metachromatic" as your search term in the Rare Disease Database). Zellweger Syndrome is a rare hereditary disorder characterized by decreased or missing peroxisomes (microbodies that participate in the metabolism of fats) in the liver, kidney and brain. The major symptoms may include: abnormalities of the face, eyes and nervous system; enlargement of the liver (hepatomegaly); and/or unusual problems in development before birth. Newborns with Zellweger Syndrome have a typical flat face with a high forehead, widely spread eyes (hypertelorism), and a small fold of skin over the inner corner of both eyes (epicanthal folds). Other symptoms may include: profound muscle weakness (hypotonia); feeding difficulties; seizures; cardiac defects; enlargement of the liver (hepatomegaly); and/or vision abnormalities such as cataracts. (For more information on this disorder, choose "Zellweger" as your search term in the Rare Disease Database.) Therapies: Standard Computerized tomography (CT scan) and/or magnetic resonance imaging (MRI) will show changes in the brain of people with Adrenoleukodystrophy. Laboratory tests that check for the presence of very long chain fatty acids (VLCFAs) offer the most important diagnostic procedure for this disorder. Female carriers and newborn infants at high risk for Adrenoleukodystrophy may be detected by measuring the level of very long chain fatty acids in their blood. Another test measures the level of VLCFAs in connective tissues cells that have been removed from the patient and grown in the laboratory (fibroblast cultures). Adrenoleukodystrophy may be diagnosed in the developing fetus before birth. A small amount of fluid that surrounds the fetus in the uterus is removed (amniocentesis) by a physician and then the aminocytes (cellular portion of the fluid) are grown and studied in the laboratory for the level of VLCFAs. Diagnosis of Adrenoleukodystrophy may also be made by removing a tissue sample from the placenta (chorion villus). These cells are grown in the laboratory and examined for abnormally high levels of VLCFAs. Adrenal steroids are given to treat the symptoms of Adrenoleukodystrophy that are caused by adrenocortical (generally the same drugs prescribed for Addison's Disease). Treatment for neurological symptoms associated with Adrenoleukodystrophy is symptomatic and supportive. Seizures usually respond well to anticonvulsants. The severe discomfort of muscle spasticity has been managed with some success with the drug baclofen. The coordination of services such as physical therapy, psychological support and visiting nurse services are often required to help the patient and the family cope with the effects of Childhood Adrenoleukodystrophy. Genetic counseling for families of people with Adrenoleukodystrophy is suggested. Therapies: Investigational The gene that causes ALD has been located and scientists may be able to determine the exact cause of the symptoms which will hopefully lead to development of new treatments for this disease. Hugo W. Moser, M.D., at the Kennedy Institute in Baltimore, MD, has been treating Adrenoleukodystrophy experimentally with Glycerol Trioleate combined with dietary VLCFA restriction. Dr. Moser is also studying Lorenzo's oil (erucic acid) together with triolein oil as a possible treatment for patients with rapidly progressive Childhood Adrenoleukodystrophy. More research is needed to determine the long-term safety and effectiveness of these substances. For more information about these experimental treatments, physicians can contact: Hugo W. Moser, M.D. Kennedy Institute 707 North Broadway Baltimore, MD 21205 (301) 522-5405 Bone marrow transplantation is being tested as a treatment for Childhood Adrenoleukodystrophy. Bone marrow transplantation is not recommended for patients with relatively advanced neurological symptoms. More research is necessary to determine safety and effectiveness of this procedure. This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Adrenoleukodystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 The National Adrenal Diseases Foundation, Inc. 505 Northern Blvd., Suite 200 Great Neck, NY 11021 (516) 487-4992 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 895-3211 (800) 728-5483 ALD Project Dr. Hugo W. Moser John F. Kennedy Institute 707 North Broadway Baltimore, MD 21205 (410) 522-5405 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France Research Trust for Metabolic Diseases in Children Golden Gates Lodge, Weston Road Crewe CW1 1XN, England Telephone: (0270) 250244 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1199, 1769-1772. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 1494-1527. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 61-62. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 811-812. ADRENOLEUKODYSTROPHY: EXTRACTS FROM "ADRENOLEUKODYSTROPHY IN CHILDREN AND ADULTS - DIAGNOSIS AND GENETIC COUNSELLING": Hugo W. Moser; Newsletter of Research Trust for Metabolic Diseases in Children (1986). Pp. 5-7. ADRENOLEUKODYSTROPHY: SURVEY OF 303 CASES: BIOCHEMISTRY, DIAGNOSIS, AND THERAPY: Hugo W. Moser, et. al.; Annals of Neurology (December 1984: issue 16,6). Pp. 628-641. PERIOXISOMAL DISORDERS. Hugo W. Moser; Biochem Cell Biol (July 1991; issue 69(7)). Pp. 463-474. CLINICAL ASPECTS OF ADRENOLEUKODYSTROPHY AND ADRENOMYELONEUROPATHY. Hugo W. Moser; Dev Neurosci (1991; issue 13(4-5)). Pp. 254-261. Adrenoleukodystrophy Spagetitle 43: Adrenoleukodystrophy 03431.TXT NCopyright (C) 1986, 1987, 1988, 1989, 1993 National Organization for Rare Disorders, Inc. 73: Agammaglobulinemias, Primary _________________________ ** IMPORTANT ** It is possible that the main title of the article (Agammaglobulinemias, Primary) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Antibody Deficiency Immunoglobulin Deficiency Gammaglobulin Deficiency DISORDER SUBDIVISIONS: X-linked Agammaglobulinemia (Bruton's Agammaglobulinemia Common) X-Linked Agammaglobulinemia with Growth Hormone Deficiency Autosomal Recessive Agammaglobulinemia PRIMARY AGAMMAGLOBULINEMIAS THAT INVOLVE B CELL DEFICIENCY DISORDERS: X-Linked Infantile Agammaglobulinemia X-Linked Lymphoproliferative Syndrome (Duncan's Disease) Common, Variable, Unclassifiable Immunodeficiency Transient Hypogammaglobulinemia of Infancy Selective IgA Deficiency Selective Deficiency of IgG Subclass Immunodeficiency with Hyper-IgM (Hyper IgM Syndrome and Janeway I Dysgammaglobulinemia) Selective IgM Deficiency Selective Deficiency of IgG Subclasses Kappa Light Chain Deficiency Secretory Component Deficiency (Secretory IgA Deficiency) Specific Antibody Deficiency with Normal Immunoglobulins PRIMARY AGAMMAGLOBULINEMIAS THAT INVOLVE T CELL DEFICIENCY DISORDERS: Thymic Hypoplasia (DiGeorge Syndrome) Chronic Mucocutaneous Candidiasis Cellular Immunodeficiency with Purine Nucleoside Phosphorylase Deficiency Acquired Immunodeficiency Syndrome (AIDS) COMBINED B CELL AND T CELL DEFICIENCY DISORDERS: Severe Combined Immunodeficiency (SCID) X-linked Recessive Severe Combined Immunodeficiency Autosomal Recessive Severe Combined Immunodeficiency Severe Combined Immunodeficiency with Adenosine Deaminase Deficiency OTHER PRIMARY AGAMMAGLOBULINEMIAS: Hypogammaglobulinemia, Late-Onset Immunoglobulin Deficiency, Idiopathic Immunoglobulin Deficiency and Variable Onset Immunoglobulin Deficiency Dysgammaglobulinemia Antibody Deficiency with near normal Immunoglobulins Anti-Epstein-Barr Virus Nuclear Antigen (EBNA) Antibody Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Acquired Immunodeficiency Syndrome (AIDS) Ataxia Telangiectasia DiGeorge Syndrome Nezelof Syndrome Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome IgA Deficiency (General) General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Primary Agammaglobulinemias are a group of inherited immune deficiencies characterized by insufficient antibodies. Antibodies are composed of certain proteins (immunoglobulins) that are essential to the immune system. They are produced by specialized cells (i.e., B lymphocytes) that circulate in the lymphatic fluid and blood. Antibodies fight off bacteria, viruses, and other foreign substances that threaten the body. Agammaglobulinemias are also characterized by the abnormal function of specialized white blood cells called B lymphocytes. The B lymphocytes are supposed to search out and identify bacteria, viruses, or other foreign substances in the body. T lymphocytes, also known as the "killer cells," assist B lymphocytes to respond to infection and other antigens. However, in some forms of Primary Agammaglobulinemias neither the B nor the T lymphocytes function normally. There are three types of Primary Agammaglobulinemias: X-linked Agammaglobulinemia (XLA), X-linked Agammaglobulinemia with growth hormone deficiency, and autosomal recessive Agammaglobulinemia. All of these disorders are characterized by a weakened immune system that must be enhanced by gammaglobulin in order to fight infections. Symptoms The most frequent symptoms of Primary Agammaglobulinemia are usually repeated bacterial infections resulting from failures in specific immune responses because of defects in T and B lymphocytes. These lymphocytes are responsible for the production of antibodies. Autoimmune disorders also occur more frequently than normal in people with Primary Agammaglobulinemia. The bacteria, Giardia lamblia, is a frequent cause of chronic inflammation of the intestines and diarrhea in patients with all forms of Primary Agammaglobulinemia. Infections may begin to occur in males with X-linked Primary Agammaglobulinemia (also known as Bruton agammaglobulinemia) late in the first year of life, only after the IgG antibodies from the mother have been depleted. These children typically have recurrent pus filled areas of infection on the skin. Repeated infections may also occur in the middle ear and respiratory tract (upper and lower). Most of the infections in people with X-Linked Primary Agammaglobulinemia are bacterial, but persistent viral and parasitic infections can occur as well. Infections by enteroviruses and the poliomyelitis virus may result in unusually severe illness in children with Primary Agammaglobulinemia. Echovirus infection can cause a group of symptoms that closely resembles Dermatomyositis. These symptoms may include muscle weakness, often in the hip and shoulder areas, and difficulty swallowing. Areas of patchy, reddish skin may appear around the eyes, knuckles and elbows and occasionally on the knees and ankles. (For more information on this disorder, choose "Dermatomyositis" as your search term in the Rare Disease Database.) Infections caused by Mycoplasma bacteria can lead to severe arthritis including joint swelling and pain, in children with Primary Agammaglobulinemia. Hemophilus influenzae is the most common mucous-producing infection (pyogenic) that occurs in people with X-Linked Primary Agammaglobulinemia. Children may also have repeated infections with pneumococci, streptococci, and staphylococci bacteria, and infrequently pseudomonas infection. People with X-Linked Agammaglobulinemia have abnormally low levels of IgA, IgG, and IgM antibodies circulating in their blood. Specialized white blood cells (neutrophils) are impaired in their ability to destroy bacteria, viruses, or other invading organisms (microbes). This occurs because neutrophils require antibodies from the immune system to begin to destroy invading bacteria (opsonization). The levels of circulating neutrophils in children with Primary Agammaglobulinemia may be persistently low, or may wax and wane (cyclic, transient neutropenia) in people with these disorders. The number of B lymphocytes and parts of the cell that they produce (plasma cell progeny) are typically reduced by 100-fold or more in children with X-Linked Primary Agammaglobulinemia. X-Linked Agammaglobulinemia patients are usually without tonsils, which are composed mostly of B lymphocytes. (For more information, choose "Neutropenia" as your search term in the Rare Disease Database.) A single family has been described by researchers to have X-linked Agammaglobulinemia with growth hormone deficiency. The boys in this family have reduced or undetectable numbers of B lymphocytes and may also have a deficiency in all the immune factors (panhypogammaglobulinemia) but with substantial amounts of IgA and IgM and normal T lymphocytes. Researchers are unable to explain why growth hormone coexists with X-Linked Agammaglobulinemia in this family. Familial Primary Agammaglobulinemia also occurs in females, suggesting that one form of the disorder may be inherited as an autosomal genetic trait. Causes X-Linked Agammaglobulinemia (B lymphocyte defect) is inherited as an X-linked recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons. One very rare form of Primary Agammaglobulinemia is inherited as an autosomal recessive genetic trait. This form of the disease may occur in brothers and in males whose sisters have children with X-Linked Agammaglobulinemia. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. Affected Population Primary Agammaglobulinemia is a rare disorder that occurs almost exclusively in males although some females have been affected by certain types of this disorder. Related Disorders Symptoms of the following disorders can be similar to those of Primary Agammaglobulinemias. Comparisons may be useful for a differential diagnosis: Acquired Immune Deficiency Syndrome (AIDS) is an immunosuppressive disorder caused by infection with the human immunodeficiency virus (HIV). The immune deficiency is a result of a viral infection and the destruction of specific T cells. Initially HIV infection is characterized by a period without symptoms. This may be followed by the development of swollen lymph nodes (lymphadenopathy). Eventually most people with Acquired Immune Deficiency Syndrome experience a progression of symptoms that occur as a result of a compromised immune system. However, AIDS is a contagious disease whereas Primary Agammaglobulinemias are not transmitted from person to person except through hereditary. (For more information on this disorder, choose "AIDS" as your search term in the Rare Disease Database.) Ataxia Telangiectasia is a severe, rare, inherited neurological disorder characterized by the progressive loss of motor coordination in the arms, legs, and head (cerebellar ataxia). Some cases of this disorder are associated with immunodeficiencies (IgA or IgE). Mental development may be normal in the early stages of the disease, but progressive dementia may occur. This disease usually begins in infancy but may not be apparent until the child is school age. Classic red spots or telangiectasia appear in the eyes, and later on the face and roof of the mouth. (For more information on this disorder, choose "Ataxia Telangiectasia" as your search term in the Rare Disease Database.) DiGeorge Syndrome is a very rare immune deficiency that results from developmental defects in the thymus and parathyroid glands. This disorder is characterized by seizures during the first few days of life due to the abnormal function of the parathyroid gland. Inability to fight off frequent infections from viruses, fungi, and other bacteria is characteristic of this disorder. Children with DiGeorge Syndrome frequently have chronic nasal infections, diarrhea, oral candidiasis, and Pneumocystis pneumonia. (For more information on this disorder, choose "DiGeorge" as your search term in the Rare Disease Database.) Nezelof Syndrome is a rare immune deficiency disorder characterized by the impairment of cellular immunity against infections. Symptoms of this disorder may include frequent and severe infections from birth including oral candidiasis, diarrhea, skin infections, septicemia, urinary tract infections, measles, pulmonary infections, and vaccinia. Typically a child with this disorder may be mentally retarded and have a progressive loss of muscle tissue. (For more information on this disorder, choose "Nezelof" as your search term in the Rare Disease Database.) Severe Combined Immunodeficiency (SCID) is a group of rare, congenital disorders characterized by little or no immune response. A person with this disorder is susceptible to recurring infections with bacteria, viruses, fungi, and other infectious agents. If untreated, this disorder may result in frequent, severe infections, growth retardation, and can be life-threatening. Other symptoms of this disorder may include weight loss, weakness, infections of the middle ear, and skin infections. (For more information on this disorder, choose "Severe Combined Immunodeficiency" as your search term in the Rare Disease Database.) Wiskott-Aldrich Syndrome is a rare X-Linked inherited disorder of childhood characterized by immunodeficiency that results in recurrent skin rashes (eczema) and abnormally low levels of circulating platelets in the blood (thrombocytopenia). Symptoms of this disorder may include excessive bleeding from circumcision or minor trauma. Bleeding, which can be severe, may also occur in the intestines or stomach. Skin rashes that are red (petechiae) are typically present. (For more information on this disorder, choose "Wiskott-Aldrich" as your search term in the Rare Disease Database.) IgA Deficiency is an antibody deficiency that is related to Primary Agammaglobulinemia and is characterized by low levels of IgA in the blood in the presence of normal or increased levels of IgG and IgM. IgA Deficiency is the most common primary immunodeficiency. Other deficiencies of immunoglobulin isotopes are IgM deficiency and IgG subclass deficiencies. Therapies: Standard The administration of intravenous gammaglobulin replacement therapy is the standard treatment for Primary Agammaglobulinemia. The optimal dose for a person with X-Linked Agammaglobulinemia must be determined by a physician. The dosage is generally at least 300 mg/kg of body weight per month. It is used to treat most of the Agammaglobulinemias including Common Variable Immunodeficiency and X-Linked Agammaglobulinemia. Gammaglobulin may also be of value in transient hypogammaglobulinemia of infancy although there is risk that the body will delay production of immune factors in some infants. Fresh frozen blood plasma may also be used in some cases. Selective IgA deficiency is more difficult to treat. Gammaglobulins and fresh or frozen plasma must be avoided because of the risk of life threatening shock (anaphylaxis) due to the presence of antibodies to IgA in the blood or plasma. If blood transfusions are necessary, only multiple washed red blood cells or blood products from other IgA deficient individuals should be used. Antibiotics are prescribed for people with Primary Agammaglobulinemia when bacterial infections occur. Some patients are treated with antibiotics to prevent getting infections (prophylactically). All people who are immunodeficient should be protected as much as possible from exposure to infectious diseases. Corticosteroids or any drug that depresses the immune system (immunosuppressant drugs) should be avoided as much as possible, as well as physical activities such as rough contact sports that risk damage to the spleen. In people with immunodeficiency with elevated IgM, there is a tendency to bleed excessively associated with abnormally low levels of circulating platelets in the blood (thrombocytopenia). This may complicate any surgical procedure. Genetic counseling will be of benefit for people with Primary Agammaglobulinemias and their families. Prenatal testing is being developed to detect these disorders before birth, particularly in the developing fetus of mothers who already have a child with X-Linked Primary Agammaglobulinemia. More studies are needed before this testing is widely available. Other treatment is symptomatic and supportive. Therapies: Investigational Research on genetic defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project that is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through June 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Primary Agammaglobulinemias, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Immune Deficiency Foundation 3565 Ellicott Mill Drive, Unit B2 Ellicott City, MD 21043 (800) 296-4433 (410) 461-3127 NIH/National Institute of Allergy and Infectious Diseases (NIAID) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control (CDC) 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1200, 1773-77. THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.: Charles R. Scriver, et al., Editors; McGraw Hill, 1989. Pp. 2689-90. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1446-53. THE MERCK MANUAL, 16th Ed.: Robert Berkow Ed.; Merck Research Laboratories, 1992. Pp. 303-315. HEMATOLOGY, 4th Ed,: William J. Williams, et al,; Editors; McGraw-Hill, Inc., 1990. Pp. 970-71. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 947-962. IMMUNODEFICIENCY. R.H. Buckley; J Allergy Clin Immunol (Dec 1983; 72(6)) Pp. 627-41. MOLECULAR ANALYSIS OF X-LINKED AGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY. M.E. Conley; J Pediatr (Sept 1991; 119(3)). Pp. 392-397. HOME TREATMENT OF HYPOGAMMAGLOBULINAEMIA WITH SUBCUTANEOUS GAMMAGLOBULIN BY RAPID INFUSION. A. Gardulf; Lancet (July 1991; 338(8760)). Pp. 162-6. PRIMARY HYPOGAMMAGLOBULINEMIA: A SURVEY OF CLINICAL MANIFESTATIONS AND COMPLICATIONS. R.A. Hermaszewshi; Q J Med (Jan 1986; 86(1)). Pp. 31-42. CARRIER DETECTION AND PRENATAL DIAGNOSIS OF X-LINKED AGAMMAGLOBULINEMIA. O. Journet; Am J Med Genet (July 1992; 15(43)). Pp. 885-87. X-LINKED AGAMMAGLOBULINEMIA. E. Timmers; Clin Immunol Immunopathol (Nov 1991; 61(2 Pt 2)). Pp. S83-93. CLINICAL USE OF IMMUNE SERUM GLOBULIN AS REPLACEMENT THERAPY IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY SYNDROMES. S.A. Schwartz; Clin Rev Allergy (Spring-Summer 1992; 10(1-2)). Pp. 1-12. Agammaglobulinemias, Primary Opagetitle 73: Agammaglobulinemias, Primary 03432.TXT )|)Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 355: Agenesis of Corpus Callosum _________________________ ** IMPORTANT ** It is possible the main title of the article (Agenesis of Corpus Callosum) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Corpus Callosum, Agenesis Asymptomatic Callosal Agenesis Agenesis of Commissura Magna Cerebri ACC DISORDER SUBDIVISIONS: Autosomal recessive inheritance X-linked dominant inheritance Acquired form (caused by infection while still in womb) Aicardi Syndrome Information on the following diseases can be found in the Related Disorders section of this report: Spina Bifida Andermann Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Agenesis of Corpus Callosum (ACC) is a rare disorder which is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. This part of the brain is normally composed of transverse fibers. Agenesis of Corpus Callosum is usually inherited as either an autosomal recessive trait or an X-linked dominant trait. It can also be caused by an infection during the twelfth to the twenty-second week of pregnancy (intrauterine) leading to developmental disturbance of the fetal brain. In some cases mental retardation may result, but in other cases no evident symptoms may appear and intelligence may not be impaired. ACC is diagnosed in approximately ninety percent of patients during the first two years of life. An epileptic seizure is usually the initial symptom indicating that a child should be tested for a brain dysfunction. The disorder can also be without apparent symptoms in the mildest cases for many years. A normal lifespan may be expected for patients with ACC. Symptoms The symptoms of Agenesis of Corpus Callosum (ACC) may initially be the onset of difficult to suppress grand mal or Jacksonian type epileptic seizures during the first weeks of life, or within the first two years. (For more information on these types of seizures choose "epilepsy" as your search term in the Rare Disease Database). When the symptoms begin early in life, feeding problems and delays in holding the head erect are apparent. Sitting, standing and walking may also be delayed. Impairment of mental and physical development, and/or an accumulation of fluid in the skull (hydrocephalus), are also symptomatic of the early onset type of this disorder. (For more information, choose "hydrocephalus" as your search term in the Rare Disease Database.) Nonprogressive mental retardation, impaired hand-eye coordination and visual or auditory (hearing) memory impairment can be diagnosed through neurological testing of patients with ACC. In some mild cases, symptoms may not appear for many years. Older patients are usually diagnosed during tests for symptoms such as seizures, monotonous or repetitive speech, or headaches. Agenesis of Corpus Callosum can involve a partial or complete absence of the Corpus Callosum, and in mild cases it may be overlooked due to lack of obvious symptoms during childhood. Some patients may have deep-set eyes and a prominent forehead. An abnormally small head (microcephaly), or sometimes an unusually large head (macrocephaly), may be present. Tags of skin in front of the ears (preauricular skin tags), one or more bent fingers (camptodactyly), delayed growth, and recurrent bronchopneumonia have also been associated with some cases of Agenesis of Corpus Callosum. In other cases wide-set eyes (telecanthus), a small nose with upturned (anteverted) nostrils, abnormally shaped ears, excessive neck skin, short hands, diminished muscle tone (hypotonia), abnormalities of the larynx, heart defects, and symptoms of Pierre-Robin Syndrome may be present. (For more information choose "Pierre-Robin" as your search term in the Rare Disease Database). Aicardi Syndrome, inherited as an X-linked dominant disorder, consists of Agenesis of Corpus Callosum, infantile spasms, and abnormal eye structure. This disorder is an extremely rare congenital disorder in which frequent seizures, striking abnormalities of the eye's middle coat (choroid) and retinal layers, and the absence of the structure linking the two cerebral hemispheres (the Corpus Callosum), accompany severe mental retardation. Only females are affected. (For more information on this disorder, choose "Aicardi" as your search term in the Rare Disease Database). Causes Agenesis of Corpus Callosum is usually inherited as an autosomal recessive trait or an X-linked dominant trait. This disorder may also be due in part to an infection during pregnancy (intrauterine) leading to abnormal development of the fetal brain. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe condition. Sometimes affected males die before birth so that only female patients survive. This seems to be true for one form of Agenesis of Corpus Callosum known as Aicardi Syndrome. The majority of patients diagnosed so far have been females; occasionally Aicardi Syndrome has been seen in males with an extra X chromosome. Affected Population Agenesis of Corpus Callosum produces symptoms during the first two years of life in approximately ninety percent of those affected. It is a very rare condition in the United States. Related Disorders Agenesis of Corpus Callosum can occur in conjunction with Spina Bifida. "Spina Bifida" is a term meaning open (or nonfused) spine. In Spina Bifida, one or more of the individual bones of the spine fails to close completely, leaving a cleft or defect in the spinal canal. Part of the contents of the spine can protrude or herniate through this abnormal opening which produces a meningocele or meningomyelocele. (For more information on this disorder, choose "Spina Bifida" as your search term in the Rare Disease Database). Andermann Syndrome, identified in 1972, is a genetic disorder characterized by a combination of Agenesis of Corpus Callosum, mental retardation, and progressive sensorimotor nervous system disturbances (neuropathy). All known cases of this disorder originate from Charlevois County and the Saguenay-Lac St. Jean area of Quebec, Canada. The exact mode of inheritance in Andermann Syndrome is unknown at this time. Therapies: Standard Ultrasound and magnetic resonance imaging (MRI) are imaging techniques which aid in diagnosis of Agenesis of Corpus Callosum. Treatment is symptomatic and supportive. Anti-seizure medications, special education, physical therapy, and related services may be of benefit depending upon the range and severity of symptoms. When hydrocephalus is present it may be treated with a surgical shunt to drain the fluid from the brain cavity, thereby lowering the increased pressure on the brain. Genetic counseling may also be of benefit to families with this disorder. Therapies: Investigational Research and genetic studies of Agenesis of Corpus Callosum are ongoing. This disease entry is based upon medical information available through September 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Agenesis of Corpus Callosum, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Agenesis of Corpus Callosum Network 86 N. Main St. Orono, ME 04473 (207) 866-2062 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 For more information on shunts, please contact: Association for Brain Tumor Research 3725 N. Talmon Ave. Chicago, IL 60618 (312) 286-5571 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 9th Ed.: Victor A. McKusick; Johns Hopkins University Press, 1990. Pp. 1111-1112, 1581. ANATOMICAL AND BEHAVIORAL STUDY OF A CASE OF ASYMPTOMATIC CALLOSAL AGENESIS: R. Bruyer, et. al.; Cortex (September 1985, issue 21(3)). Pp. 417-430. THE ANDERMANN SYNDROME: AGENESIS OF THE CORPUS CALLOSUM ASSOCIATED WITH MENTAL RETARDATION AND PROGRESSIVE SENSORIMOTOR NEURONOPATHY: A. Larbrisseau, et. al.; Can J Neurol Sci (May 1984, issue 11(2)). Pp. 257-261. AICARDI'S SYNDROME: (AGENESIS OF THE CORPUS CALLOSUM, INFANTILE SPASMS, AND OCULAR ANOMALIES): S. Dinani, et. al.; J Ment Defic Res. (June 1984, issue 28 (Pt. 2)). Pp. 143-149. ABOUT SHUNTS: Association for Brain Tumor Research pamphlet. Agenesis of Corpus Callosum *pagetitle 355: Agenesis of Corpus Callosum 03433.TXT `'O'Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 209: Agranulocytosis, Acquired _________________________ ** IMPORTANT ** It is possible the main title of the article (Acquired Agranulocytosis) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Malignant Neutropenia Primary Granulocytopenia Agranulocytic Angina General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Acquired Agranulocytosis is a disorder characterized by an impairment in the formation of granulocytes (white blood cells containing granules) in the bone marrow which is caused by chemical or pathogenic agents. The resulting lack of granulocytes results in an increased susceptibility to bacterial infections. Symptoms The symptoms of Acquired Agranulocytosis depend upon the type, severity and duration of the bacterial infection. Painful mucous membrane ulcers in the lining of the cheeks and throat associated with difficulty in swallowing may herald the onset of acute granulocytopenia. The initial symptoms of Acquired Agranulocytosis may be fever, chills, and weakness or extreme exhaustion due to the presence of bacteria in the tissues of the body. Untreated, the disease can progress rapidly to bacterial shock. Chronic granulocytopenia may have a similar acute onset, but frequently the disease progresses more slowly with a series of multiple focal infections that commonly involve the skin, perirectal (around the rectum) region, and bronchopulmonary system involving the lungs and their air passages. Some patients with the disorder may develop either recurrent canker sores in the mouth or other infections that occur in a cyclic pattern. Causes Acquired Agranulocytosis is caused by impaired granulocyte (white blood cells containing granules) production, accelerated destruction or utilization of these cells, or a combination of these. The resulting granulocytopenia (lack of granulocytes) is accompanied by a reduction in the large reserve pool of another kind of white blood cell, called bone marrow neutrophil. The most common cause of Acute Agranulocytosis is drug-induced dose-related impairment of granulocyte production. Cancer chemotherapy drugs are the most frequently involved agents. Less commonly involved are many of the alkylating agents which substitute an alkyl group for an active hydrogen atom in an organic compound, chemotherapeutic antimetabolites (substances structurally resembling other substances and interfering with their utilization in their metabolism), phenothiazine derivatives, dibenzazepine compounds, antithyroid drugs, sulfonamides, antihistamines and anticonvulsants. Synthetic penicillins, chloramphenicol (an antibiotic), benzene, nitrous oxide, and arsenic have also been known to cause agranulocytosis. Idiosyncratic (non-dose-related) forms of drug-induced depression of granulocyte production can also occur. These may be either acute (e.g., cinchona alkaloids, indomethacin, procainamide, phenylbutazone, nitrofurantoin, sulfonamides, antithyroid compounds, and thiazides), or chronic (e.g., benzene, chloramphenicol, gold salts, and phenylbutazone). Some drugs (e.g., cytarabine, phenytoin, methotrexate, and pyrimethamine) may produce granulocytopenia as a consequence of excessive destruction of granulocyte precursors within the bone marrow. Rarely, Acute Agranulocytosis due to excessive granulocyte destruction is caused by the presence of a drug-induced leukocyte antibody (e.g., aminopyrine, dipyrone, phenylbutazone, meralluride, sulfapyridine, and gold salts). Most disease-associated granulocytopenia is due to accelerated neutrophil destruction through a variety of mechanisms. This may occur in association with excessive leukophagocytosis; i.e., the destruction of leukocytes by histiocytes such as lymphoma (malignancy of the lymph tissue). It may occur in association with infections affecting the whole body (e.g., viral, protozoal, severe bacterial infection), various forms of hypersplenism (exaggeration of the functions of the spleen) such as Felty's Syndrome, congestive splenomegaly (enlarged spleen) in association with collagen (connective tissue) disease, intrinsic granulocyte defects such as Chediak-Higashi Syndrome, and, rarely, leukocyte isoantibody (an antibody produced by one individual that reacts with antigens - isoantigens - of another individual of the same species) such as neonatal immunization neutropenia (lack of neutrophil cells). Complement-mediated acute reversible neutropenia sometimes occurs during hemodialysis (removal of certain elements of the blood by kidney dialysis). The drugs in the United States with the highest risk of inducing granulocytopenia (excluding the cancer chemotherapy drugs) are the phenothiazines, antithyroid compounds, sulfonamides, and phenylbutazone. The greatest relative risk, however, is from phenylbutazone. Therapies: Standard Treatment of Acquired Agranulocytosis consists of identifying and eliminating any possible offending agents (drugs, occupational exposure, etc.). If there is a significant fever spike of over 38.3 C (101 F), shock, a significant focus of local infection, or a positive blood culture, antimicrobial therapy is administered. This therapy must be designed to cover a wide range of bacteria. Combination antimicrobial therapy with an aminoglycoside such as gentamycin or tobramycin plus a penicillinase-resistant penicillin such as cephalothin, oxacillin or carbenicillin is recommended as the initial therapy for adults. Appropriate antibiotics for the types of identified infections should be continued from 7 to days following abatement of fever. Extended antibiotic treatment may predispose a patient to the development of renal (kidney) complications and superinfection ( a new infection complicating the course of antimicrobial therapy with resistant bacteria and fungi). Infection and fever usually ebb with the return of 1000 to 1500 granulocytes/cu mm in the peripheral blood. There is no certain method to stimulate bone marrow myeloid recovery. Corticosteroids may be used in the management of bacterial shock, but are not recommended to treat Acute Agranulocytopenia since they may mask bacterial infections and can impede the migration of granulocytes into tissues. Androgenic steroid therapy for treatment of the disorder has been disappointing. Human gamma-globulin should be given to patients with low levels of gamma globulin in their blood (hypogammaglobulinemia). Severely neutropenic patients with antibiotic-resistant sepsis (presence of pathogenic microorganisms or their toxins) may benefit from repeated infusions of massive numbers of leukocytes from compatible normal donors, but this procedure is costly and not without risk. It is therefore not recommended for routine use. The value of antimicrobial drug sterilization of the gastrointestinal tract and the maintenance of agranulocytic patients in sterile environments during cancer chemotherapy remains uncertain. Saline or hydrogen peroxide gargles or anesthetic lozenges may relieve the discomfort associated with mouth and throat ulcerations. Oral thrush is treated with myastatin mouth washes. A semi-solid or liquid diet may be necessary during acute inflammation of the mucous membranes. Chronic granulocytopenic patients are hospitalized during acute episodes of infection; therapy is similar to that for patients with acute granulocytopenia. Patients should be taught to recognize the early symptoms and signs of acute infection and to seek immediate medical attention. Those patients who take low-dose oral antibiotics on a rotating basis must be monitored for the emergence of resistant bacterial strains and infections with opportunistic organisms such as fungi, pneumocystis, cytomegalovirus, etc. Therapy directed at improving the number of neutrophils depends on the type of granulocytopenia. Patients with decreased granulopoiesis (formation of granulocytes) may be tried on a course of lithium carbonate. If this form of therapy is unsuccessful, adult patients may be give oxymetholone combined with a small dose of prednisone. Patients with primary and secondary hypersplenic (having exaggerated functions of the spleen) forms of granulocytopenia who have had repeated infections usually will respond well to splenectomy (excision or extirpation of the spleen). Improvement with splenectomy also usually occurs in some patients with systemic lupus erythematosus, cyclic neutropenia, and certain forms of marrow dysplasia either with or without splenomegaly (enlarged spleen). Therapies: Investigational This disease entry is based upon medical information available through May 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Acquired Agranulocytosis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Heart, Lung, and Blood Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1173. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1325, 1699. Agranulocytosis, Acquired p(pagetitle 209: Agranulocytosis, Acquired 03434.TXT Copyright (C) 1986, 1989 National Organization for Rare Disorders, Inc. 155: Ahumada-del Castillo Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Ahumada del-Castillo Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Galactorrhea-Amenorrhea without Pregnancy Nonpuerperal Galactorrhea-Amenorrhea Amenorrhea-Galactorrhea-FSH Decrease Syndrome Argonzdel Castillo Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Ahumada-del Castillo Syndrome belongs to a group of disorders affecting women, characterized by abnormal lactation (milk production) and an absence of menstrual periods. Its causes are not well understood, but the syndrome seems to result from microscopic tumors in the region of the brain or pituitary gland responsible for the production of certain reproductive hormones. Ahumada-del Castillo Syndrome is not correlated with pregnancy. It responds to pharmacological treatment for variable periods of time. Symptoms Onset of Ahumada-del Castillo Syndrome may occur at any time. The symptoms consist of galactorrhea( abnormal secretion of a milky substance from the nipples) and the absence of menstrual periods (amenorrhea). The breasts and nipples are of normal size and appearance, and the secondary sexual characteristics, such as hair distribution, voice, etc., also remain normal. Laboratory tests reveal elevated levels of prolactin, the hormone responsible for lactation after childbirth. In addition, they indicate low levels of gonadotropins, hormones such as Follicle Stimulating Hormone (FSH) which regulate the monthly ovulatory cycle. Causes Ahumada-del Castillo Syndrome represents a dysfunction of the pituitary-hypothalamic axis. This entity, which consists of the region of the brain called the hypothalamus and the nearby endocrine gland called the pituitary, produces a number of important hormones, including many involved in reproduction and milk production. The exact abnormality is not understood, but evidence suggests that small tumors in the pituitary-hypothalamic region sometimes cause the syndrome. The tumors are frequently microscopic in size, so that they are not recognized easily. Other, rarer causes of galactorrhea-amenorrhea syndromes include underlying disorders such as hypothyroidism, chronic use of dopamine antagonistic drugs (e.g., thorazine), and discontinuation of oral contraceptive regimens. Related Disorders Galactorrhea-amenorrhea syndromes include Chiari-Frommel Syndrome which is associated with pregnancy and Forbes-Albright Syndrome which is associated with demonstrable tumors in the sella turcica, a structure in the skull where the pituitary gland is located. Therapies: Standard Treatment of Ahumada-del Castillo Syndrome with drugs such as bromocriptine and lergotrile mesilate lower prolactin levels, stopping the abnormal milk secretion, and often restoring menstrual function. Small tumors may in some cases be removed surgically. Others may respond to radiation treatment. When the syndrome results from other underlying disorders, it resolves with their successful treatment. Therapies: Investigational This disease entry is based upon medical information available through June 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ahumada-del Castillo Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 NIH/National Institute of Child Health and Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20205 (301) 496-5133 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1029. Ahumada-del Castillo Syndrome pagetitle 155: Ahumada-del Castillo Syndrome 03435.TXT $Copyright (C) 1985, 1987, 1992, 1993 National Organization for Rare Disorders, Inc. 49: Aicardi Syndrome _________________________ ** IMPORTANT ** It is possible that the main title of the article (Aicardi Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Chorioretinal Anomalies Agenesis of Corpus Callosum-Chorioretinal Abnormality Agenesis of Corpus Callosum-Infantile Spasms-Ocular Anomalies Corpus Callosum, Agenesis of Chorioretinal Abnormality Callosal Agenesis Ocular Abnormalities Information on the following diseases can be found in the Related Disorders section of this report: Agenesis of the Corpus Callosum Cytomegalovirus Infection Fetal Rubella Syndrome Fetal Toxoplasmosis Syndrome General Discussion ** REMINDER ** The Information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Aicardi Syndrome is an extremely rare congenital disorder in which the structure linking the two cerebral hemispheres of the brain (corpus callosum) fails to develop. The absence of the corpus callosum is associated with frequent seizures, marked abnormalities of the retina and choroid (the thin membrane that covers the retina) of the eyes, and/or mental retardation. Symptoms Aicardi Syndrome typically begins as involuntary muscle spasms between 4 months and 4 years of age. Other symptoms may include epilepsy, mental retardation, profound muscle weakness (hypotonia), an abnormally small head (microcephaly), abnormally small eyes (microphthalmia), ridges on the eyeball (colobomas), and/or abnormalities of the ribs and/or spinal column. Aicardi Syndrome may increase as the child ages; children of all ages have significant delay in motor development. Aicardi Syndrome can be life-threatening during childhood. Affected children may survive to adulthood. Examination of the eyes of children with Aicardi Syndrome typically reveals small cream-colored cavities (lucunae) within the retina; computer tomography (CT scans) confirms that the corpus callosum is absent. Causes In some cases of Aicardi Syndrome the cause is not known. In other cases it may be inherited as an X-linked dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In X-linked dominant disorders the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe condition. Sometimes affected males die before birth or shortly after so that only female patients survive. It is suspected that most cases of Aicardi Syndrome may be new mutations that are not inherited, but instead occur spontaneously in the fetus. Affected Population Aicardi Syndrome is an extremely rare disorder that affects only females. Related Disorders Symptoms of the following disorders can be similar to those of Aicardi Syndrome. Comparisons may be useful for a differential diagnosis: Agenesis of the Corpus Callosum is a rare birth defect involving a partial or complete absence of the fibers that connect the cerebral hemispheres of the brain. Sometimes mental retardation may result, but other cases may be without symptoms and the child may have normal intelligence. The early symptoms of this disorder may be grand mal or Jacksonian epileptic seizures. These may occur during the first weeks or within the first 2 years of life. Other early symptoms may include: abnormal accumulation of cerebrospinal fluid around the brain (hydrocephalus), impairment of mental development, and/or delays in physical development. (For more information on this disorder, choose "Agenesis of the Corpus Callosum" as your search term in the Rare Disease Database.) Cytomegalovirus (CMV) infection is caused by a virus. This infection can occur congenitally or during adulthood. Cytomegalovirus infection may be a "silent" infection or have very severe symptoms. Infants born with severe Cytomegalovirus infection typically have low birth weight and develop fever, inflammation of the liver (hepatitis), and/or a decrease in the number of blood platelets (thrombocytopenia). Other symptoms may include inflammation of the choroid and retina of the eyes (chorioretinitis), abnormally small head (microencephaly), and/or calcifications within the brain. (For more information on this disorder, choose "Cytomegalovirus" as your search term in the Rare Disease Database.) Congenital Rubella occurs when the rubella virus is transmitted to the developing fetus from the mother and is associated with a variety of birth defects. The symptoms of this disorder may be temporary or permanent. Temporary symptoms may include: low birth weight, low platelet count (thrombocytopenia), enlargement of the liver (hepatomegaly), enlargement of the spleen (splenomegaly), and/or inflammation of the membranes that surround the brain and the spinal cord (meningoencephalitis). Permanent symptoms of Congenital Rubella may include deafness, cataracts in the eyes, abnormally small eyes, abnormalities of the retina of the eyes, deformities of the heart, mental retardation, and/or an abnormally small head. (For more information on this disorder, choose "Congenital Rubella" as your search term in the Rare Disease Database.) Fetal Toxoplasmosis Syndrome is an infectious disease that is transmitted to the developing fetus by a mother who is infected with the parasite T. gondii. Severe symptoms present at birth may include: abnormal smallness of the head (microcephaly), abnormal accumulation of cerebrospinal fluid within the skull (hydrocephalus), inflammation of the retina and the choroid of the eye (chorioretinitis), blindness, mental retardation, seizures, low levels of iron in the blood (anemia), jaundice, and/or skin rashes. (For more information on this disorder, choose "Toxoplasmosis" as your search term in the Rare Disease Database.) Therapies: Standard Anticonvulsant drug therapies may be used to suppress the seizures caused by Aicardi Syndrome. These drugs include corticosteroids, adrenocorticotropic hormone (ACTH), prednisone, phenobarbital, phenytoin, and sodium valproate. Other treatment is symptomatic and supportive. Genetic counseling will be of benefit for families with a child who has Aicardi Syndrome. Therapies: Investigational Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project that is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future. This disease entry is based upon medical information available through January 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Aicardi Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Aicardi Newsletter 5115 Troy Urbana Rd. Casstown, OH 45312-9711 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Dr. Richard Allen Pediatric Neurology Service, 0800/C7123 Outpatient Building University Hospitals Ann Arbor, MI 48109-0800 (313) 763-4697 For Genetic Information and Genetic Counseling Referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 928-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 1808-1809. BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief; Blackwell Scientific Publications, 1990. Pp. 66-68. PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989. Pp. 971-973. A NEW SYNDROME: SPASMS IN FLEXION, CALLOSAL AGENESIS, OCULAR ABNORMALITIES: J. Aicardi; ECG and Clin Neurophys (1965; 19). Pp. 609-610. CLINICAL, CYTOGENETIC, AND PEDIGREE FINDINGS IN 18 CASES OF AICARDI SYNDROME: A.E. Donnenfeld, et al; Am J Med Genet (Apr 1989; 32(4)). Pp. 461-467. Aicardi Syndrome "%pagetitle 49: Aicardi Syndrome 02992.TXT `T]TCopyright (C) 1986, 1987, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 78: AIDS (Acquired Immune Deficiency Syndrome), part I _________________________ ** IMPORTANT ** It is possible that the main title of the article (Acquired Immune Deficiency Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms AIDS DISORDER SUBDIVISIONS AIDS AIDS related complex, also known as ARC, AIDS prodrome, Wasting/Lymph Node Syndrome, and Mini-AIDS General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. In the acquired immune deficiency syndrome (AIDS) the body's ability to ward off infection progressively deteriorates. Organisms which in a healthy person would either fail to cause disease, cause mild disease, or at least provoke immunity, completely overwhelm the AIDS patient. Patients with severe AIDS also contract various uncommon, life threatening infections, particularly pneumocystis carinii pneumonia, and have an unusually high incidence of a rare cancer, Kaposi's sarcoma. Individuals in the early stages of the disease are unusually susceptible to many milder infections. Symptoms AIDS may be preceded by a period of asymptomatic immune abnormalities, or by a prodromal state lasting as long as 36 months. This "AIDS related complex" is characterized by otherwise unexplained lymphadenopathy (swelling and disease of lymph nodes) for a period of at least three months, recurrent flu-like symptoms, fatigue and malaise, loss of weight or appetite, fever, night sweats, unexplained diarrhea, or diarrhea due to amebiasis, idiopathic thrombocytopenic purpura in some cases, and an unusual susceptibility to mild infections. Commonly, infections are by yeasts such as oral thrush, by amoebas, fungi, viruses such as Herpes Zoster and molluscum contagiosum, and staphylococcus bacteria, leading to purulent skin infections. Researchers now believe the AIDS virus may be present in a patient as much as 5 to 7 years before symptoms appear. In 1988, scientists at the federal Centers for Disease Control (CDC) in Atlanta, GA, reported many individuals infected with the AIDS virus show a sharp increase in virus-infected white blood cells in the year before these patients develop the full blown disease. A decrease of one type of disease-fighting white blood cells known as T-4 helper cells also occurs as the infection progresses. Other studies have suggested that increases in chemicals in the blood signaling viral reproduction might serve as clues to early diagnosis of AIDS in susceptible patients. Full blown AIDS continues to manifest fever, wasting, lymphadenopathy, and susceptibility to infections. The infections become much more severe, however, and are often due to uncommon organisms. They may be difficult to treat, and if treated successfully, may still recur repeatedly. Several infections often coexist. A particularly serious threat is infection by the protozoan pneumocystis carinii. Serious infections may also be viral, bacterial, or fungal. See table below. VIRAL INFECTIONS: Cytomegalovirus Herpes simplex virus types I and II Epstein-Barr virus (normally associated with mononucleosis) Varicella-Zoster (normally associated with Chicken Pox) Papova virus BACTERIAL INFECTIONS: Mycobacterium tuberculosis (the organism causing tuberculosis) Mycobacterium avium-intracellulare Legionella pneumophilus (the organism causing Legionnaire's disease) Klebsiella pneumonae FUNGAL INFECTIONS Candida albicans (yeast infection) Cryptococcus neoformans Aspergillus species Histoplasma capsulata PROTOZOAN INFECTIONS: Pneumocystis carinii Toxoplasma gondii Entamoeba histolytica ("amoebas") Giardia lamblia (causes diarrhea) Cryptosporidium Isopora bellii Pneumonias, central nervous system infections, involvement of the eyes, particularly the retina, gastrointestinal symptoms (especially persistent diarrhea) and general wasting, fever, and weakness may be one or more of these organisms. Often diagnosis is difficult because symptoms and signs of the infections in the immunosuppressed patient differ from those in immunologically normal individuals. Malignant neoplasms are also characteristic of AIDS. Kaposi's sarcoma is especially common, occurring in as many as 37% of the patients. In this type of cancer, the skin and often the viscera are covered with small brown plaques and nodules representing vascular tumors. Patients who have only Kaposi's Sarcoma have a somewhat better prognosis than those with opportunistic infections, apparently because their immune systems retain slightly better function. Other cancers associated with AIDS include certain malignant undifferentiated and differentiated lymphomas, such as Hodgkin's disease, and carcinomas of certain cells of the tongue and rectum. Another feature of AIDS is a decrease in the total number of lymphocytes (cells responsible for immunity) in the blood. An absence of allergic skin reactions and abnormalities in the relative numbers and functioning of the different kinds of lymphocytes in the circulation also indicate cellular immunodeficiency. Evidence of exposure to the causative virus and abnormal proportions of the different lymphocyte types has been found in many members of the groups at risk for AIDS. Clearly, not all these people develop the disease. Recent research suggests that as many as 60% of AIDS patients may develop dementia. The dementia may occur at any age. According to the National Institute of Neurological Disorders and Stroke, as the number of patients affected by the AIDS retrovirus continues to grow, the associated neurological syndromes are recognized with increasing frequency. Neurological involvement may be apparent before severe immunodeficiency is recognized. Dementia is one of the more common and devastating neurological complications of AIDS. As many as 60 percent of patients with AIDS may develop dementia that cannot be attributed to opportunistic infections. The dementia may occur at any stage; it is often manifested very early in the clinical course of the illness. Some of these patients also develop spastic paraplegia and ataxia associated with vacuolar changes in the myelin of the spinal cord. Infection with the AIDS retrovirus is also associated with the development of peripheral nerve disease in a lesser number of patients. Although neuropathy may affect 10 percent or more of patients with AIDS, the clinical and pathological features are not completely characterized. The spectrum of symptom complexes includes sensory and motor neuropathies and multiple mononeuropathy. Developmental abnormalities in children with AIDS, characterized by loss of cognitive ability and progressive long-tract signs, are now encountered with increasing frequency. An AIDS-associated dysmorphic syndrome in children due to intrauterine infection has also been described. Researchers have found that the drug DHPG (dihdroxypropoxymethyl guanine) is effective against cytomegalovirus retinitis in AIDS patients. The patient's eye sight often can be protected by this treatment. For more information on AIDS, see the articles in the AIDS Update section of NORD Services. Causes AIDS is caused by a Human T-cell Leukemia Virus, known as HIV or human immunodeficiency virus (previously the virus was referred to as HTLV-III). Its transmission is not well understood, but is probably via the introduction into the body of fluids from an infected person, i.e. via blood transfusions (rare), sharing of contaminated needles, and intimate sexual contact, but apparently not via saliva. About 55% of the homosexual population in certain communities have been found to have antibodies to HIV, suggesting that, although exposure to it has been widespread, some other cofactors may be necessary for AIDS or its prodrome to develop. Possible cofactors include genetic predisposition and coinfection by cytomegalovirus or Epstein-Barr virus. These viruses are also linked with many of the cancers associated with AIDS. Cytomegalovirus, for example, is suspected to be responsible for Kaposi's sarcoma. Kaposi's sarcoma, immunologic evidence of exposure or infection with HIV, and AIDS-like syndromes are exceptionally common among both sexes in central Africa, and it has been suggested that the disease originated there. At an October, 1986, AIDS conference at Montefiore Medical Center in New York, researchers reported the proportion of American AIDS cases clearly traced to heterosexual intercourse is two percent, up from one percent in earlier years of the epidemic. Intravenous drug addicts and their sex partners are the primary sources of AIDS infection among heterosexuals. Four out of five cases reported among this group are women. Among immigrant cases in this country, the proportion attributed to heterosexual contact is four percent. Three percent of cases seem to have no explained cause, but there are questions as to accurate admission by these patients of past drug use and/or sexual practices. In New York City, as of Sept. 15, 1986, only two percent of AIDS cases were attributed to heterosexual contact. Eighty percent of these patients are black or Hispanic. Data from blood donors screened from April through December, 1985 in New York City revealed 0.08 percent had antibodies to the AIDS virus, a sign of infection. Further investigation revealed that ninety percent of those with the virus had homosexual or drug experience, or a sex partner who did. In only eleven cases, could the source of infection not be identified. In tests of military applicants in New York City from October, 1985 through July 1986, 1.06 percent of men and 0.83 percent of women had evidence of AIDS infection. Most of these infections could be traced to homosexual contact or drug use and the proportion attributed to heterosexual relations was "minor." Growing statistics support the conclusion of some researchers that the passage of the AIDS virus from female to male during intercourse is extremely rare. However, two new studies on risks of unprotected intercourse with a virus carrier have raised some puzzling questions. One study found that half or more of steady, long-term heterosexual partners of AIDS patients with no other possible exposure, were also infected. The virus seemed to pass as readily from women to men as the reverse, and ordinary vaginal intercourse was a sufficient means. Sixteen AIDS patients in one of these studies continued to have unprotected intercourse from one to three years. Thirteen of their partners became infected, for a transmission rate of over eighty percent. Of twelve AIDS patients and their partners who continued having sex but used condoms, the infection spread in only two cases. This low rate of transmission seems disturbing given the presumed safety of condoms. In both of the latter cases, the virus spread from man to woman. Oral sex involving semen discharges might be to blame. Some studies find inconsistent rates of sexual spread of the AIDS virus depending on how the first partner became infected. The virus was passed through intercourse far more readily from drug abusers than from people exposed by contaminated blood products in one study. Another study indicated that rates of infection may vary among individuals or in the same person over time. Available evidence indicates that the likelihood of viral transmission in a single heterosexual encounter is "less than one percent." Scientists suspect that the virus spreads more easily in anal intercourse, which more often involves tearing of tissue that would aid the entry of the virus into the bloodstream. For anyone having sex with multiple partners, the danger of infection with the AIDS virus is rising dramatically. Recent evidence suggests that the AIDS virus can live in insect hosts such as mosquitoes and other blood-sucking insects. However, there is no evidence that these insects can transfer the virus to humans. To date, no case of AIDS has been linked to an insect bite in the United States. Affected Population AIDS is now known to be caused by a virus. As of December, 1991, the CDC reported that approximately one million Americans are infected with the AIDS virus; 206,392 cases of AIDS have been diagnosed and 133,232 deaths from AIDS have occurred in the United States. The population at highest risk for AIDS comprises homosexual or bisexual males. Other high risk populations include past or present intravenous drug abusers, blood transfusion or blood product recipients, including hemophiliacs, female sexual partners of bisexual males or IV drug abusers, or women who themselves are IV drug abusers, and children whose parents are in one of the other risk groups. Most cases have occurred in the United States, but several hundred cases have been reported from Europe, the Caribbean, and Africa. Although there is a high incidence of AIDS in Haiti, Haitians in United States are no longer considered to be a risk category of individuals. It is possible that the disease originated in central Africa. NOTES FROM NORD According to the Centers for Disease Control (CDC), 980 children have been diagnosed with AIDS as of May 1988. Some of these acquired the disease in the womb from infected mothers, and some contracted the disease from blood transfusions before the AIDS blood screening program was initiated in 1985. A recent study of 20 children who contracted the AIDS virus through transfusions before 1985 indicated that one-third of the children have died or are ill with AIDS, one-third show no sign of the illness, and one-third have more than the usual number of childhood infectious diseases but their health is within the normal range of children their age. This data compares to adults with the AIDS virus; one-third of carriers have died or are ill with AIDS five to six years after infection. A pregnant woman with AIDS always passes the AIDS antibodies to her fetus, but she only passes the actual virus to the baby forth percent of the time. When the babies become fifteen months old, they start making their own antibodies if the virus is present. There is no way to predict which babies of infected mothers will get the AIDS virus. To date, sixty percent of children born to mothers with AIDS antibodies show no sign of infection. Acquired Immune Deficiency Syndrome can no longer be regarded as a disease restricted to certain populations. However, major cities seem to have higher numbers of reported cases. Nationally, 4 in 10,000 persons are affected, with thirteen men to one woman contracting this disorder. In Manhattan (New York City), there are 200 cases for every 10,000 persons. These statistics are based on data from blood banks. The uninfected partner of a person with AIDS will have a forty to fifty percent chance of contacting the disease. Therapies: Standard The treatment of choice for AIDS (Acquired Immune Deficiency Syndrome) is the Orphan Drug Zidovudine, Brand name Retrovir (formerly known as azidothymidine or AZT). The drug appears to halt the progression of AIDS (and in some cases allows the immune system to rebuild itself) by inhibiting production of an essential enzyme that is necessary for the AIDS virus to reproduce itself. (A $30 million emergency fund to help low-income AIDS patients buy AZT, has been established by the Health Resources and Services Administration. Eligibility will be determined by states; for more information, call (800) 843-9388). In 1990, AZT was approved by the FDA in treating pediatric AIDS patients as young as six months old. The drug was approved in 1987 for patients 13 years of age and older. The combination therapy of AZT (Retrovir) with Hoffman LaRoche's HIVID (DDC) has been approved by the FDA. This combination therapy is more effective than AZT alone. The primary treatment for AIDS is prevention. Use of condoms and changes in sexual behavior are recommended. Promiscuous sex may increase the likelihood of contracting AIDS. Many of the infections associated with AIDS respond to antibiotic, antifungal, etc., treatment, although recurrences are very common. Nystatin, clotrimazole, and ketoconazole have controlled episodes of esophageal and oral candidiasis. In this fungal infection as well as in cryptococcal meningitis, amphotericin-B has been useful. Herpes simplex has responded to a course of treatment with acyclovir. Toxoplasmosis may be controlled in some cases with sulfadiazine or pyrimethamine, although these drugs have immunosuppressive effects and thus may render the patient more vulnerable than ever to opportunistic infections. Cryptosporidiosis may be treated symptomatically with tincture of opium, diphenoxylate, or cholestyramine; spiramycin, an antibiotic used in Canada and Europe, but not yet approved in the United States, appears to resolve or diminish diarrhea associated with cryptosporidiosis. (See below for manufacturer of spiramycin.) A combination of quinine and clindamycin has also been reported effective. Pneumocystis carinii pneumonia is more difficult to treat. At present, trimethoprim-sulfamethoxazole co-trimoxazole, Dapsone and pentamidine are the three drugs known to be effective. Pentamidine isethionate (Pentam 300), an orphan drug, is commercially available in the United States. For further information on this drug, contact: LyphoMed, Inc., 2020 Ruby Street, Melrose Park, IL 60610. However, researchers have recently published scientific information indicating that about one-third of AIDS patients who were treated with pentamidine were likely to develop a serious form of chronic low blood sugar (hypoglycemia). When using pentamidine to treat Pneumocystis Carinii in AIDS patients, physicians are advised to check glucose levels daily and creatinine every other day during and after (for several days) pentamidine therapy. The drug should be given in a hospital setting where patients can be carefully monitored. No treatment has been found for some kinds of AIDS related infections. These include Mycobacterium avium intracellulare, cytomegalovirus, and Epstein-Barr virus. Kaposi's sarcoma, as well as other neoplasms occurring in AIDS, respond to chemotherapy. Drugs have included vinblastine, etoposide, doxorubicine, bleomycin, and combinations of these. Interferon in high doses, which does not seem to be useful in treating the underlying disorder or opportunistic infections, does appear to be effective in treating Kaposi's sarcoma. Also reportedly effective in this cancer is vincristine; this drug has antitumor activity without causing further immunosuppression due to bone marrow suppression. The National Institutes of Health are supporting studies to determine the effectiveness of suramin, a drug usually used as an antiparasitic, in inhibiting the virus' replication and capacity to damage immune cells. Treatment with interleukin II to promote T-lymphocyte growth, and with various types of interferon, an antiviral protein, have not been effective; nor has treatment with acyclovir, vidarabine, various other drugs, white cell transfusions, thymic factors, and thymus and bone marrow transplants. Among the precautions against contracting or spreading AIDS recommended by the Public Health Service are the following: 1) Sexual contact with persons known or suspected to have AIDS should be avoided. Multiple sex partners increase the probability of developing the disease. 2) No members of high risk groups should donate blood or blood products. 3) Blood transfusions should only be performed when absolutely necessary. 4) Screening procedures for plasma or blood likely to transmit AIDS have been developed, and safer blood products for hemophilia patients. 5) Health care personnel, laboratory workers, and others in frequent contact with AIDS patients should take great care to avoid wounds from contaminated needles and similar sharp objects, and contact with blood soiled materials. A new drug for the treatment of Candidiasis, Crytococcal Meningitis, and other persons with weakened immune systems such as AIDS patients has recently been approved by the FDA. The drug, diflucan (fluconazole), has been found effective against these types of infections in persons with depressed immune systems. The Food and Drug Administration has approved the antiviral drug didanosine (DDI) for treatment of adults and children with advanced AIDS who cannot tolerate or are not helped by AZT. DDI can cause pancreatitis in patients with AIDS. Pancreatitis is a potentially fatal inflammation of the pancreas. Patients taking DDI should avoid alcoholic beverages and seek medical help immediately if they have abdominal pain, nausea, or vomiting. As of March 13, 1990, of the 8,300 AIDS patients taking DDI, 78 developed pancreatitis and seven of them died... AIDS (Acquired Immune Deficiency Syndrome, part I) Upagetitle 78: AIDS (Acquired Immune Deficiency Syndrome), part I 02993.TXT GCopyright (C) 1986, 1987, 1990, 1991, 1992, 1993 National Organization for Rare Disorders, Inc. 78: AIDS (Acquired Immune Deficiency Syndrome), part II _________________________ ** IMPORTANT ** It is possible that the main title of the article (Acquired Immune Deficiency Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Therapies: Investigational Tests to identify individuals infected with the AIDS virus before they develop the disease have shown an increase in virus-infected white blood cells in the year before AIDS symptoms become apparent. Since present tests to detect these cells (peripheral blood mononuclear cells or monocytes) are very time consuming and expensive, the Centers for Disease Control (CDC) is trying to develop simpler tests. Treatments of AIDS when identified early enough may be more effective than treating the disease after symptoms appear. The experimental drug, Kemron, is being used in several African countries as a treatment for AIDS. The drug was developed by the Kenya Medical Research Institute. The World Health Organization (WHO) is conducting studies with Kemron in several African countries. Gene therapy is being investigated as a possible treatment for AIDS patients; however, this type of therapy has so far only been tested in animals. The Food and Drug Administration (FDA) has given a 1987 Orphan Drug research grant to John E. Conte, Jr., M.D. for studies on pentamidine pharmacokinetics related to AIDS patients on hemodialysis. Another grant was given for studies on the drug diethyldithiocarbamate for treatment of AIDS to Evan M. Hersh, M.D., University of Arizona, Tucson, AZ. ORPHAN DRUGS Merrell Dow has been testing the experimental orphan drug Eflornithine hydrochloride (DFMO) for treatment of pneumocystis pneumonia, a frequent cause of death among AIDS patients. Preliminary studies indicate that 74% of patients responded favorably to this treatment. DFMO does not affect the AIDS itself; it simply alleviates this type of pneumonia which is often a fatal complication of AIDS. For additional information about eflornithine HCl (DFMO), physicians can contact: Merrell Dow Research P.O. Box 6300 2110 East Galbraith Road Cincinnati, OH 45215-6300 Clinical trials are being conducted on the following orphan drugs for treatment of AIDS. For additional information, physicians can contact (the name of the drug proceeds the address): Diethyldithiocarbamate (Imuthiol) Merieux Institute, Inc. 7855 NW 12th St., Suite 114 Miami, FL 33126 2'3'-dideoxycytidine The Division of Cancer Treatment National Cancer Institute (NCI) Bldg. 31, Rm. 3A49 National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, MD 20892 Experimental Orphan Drugs for the treatment of AIDS include Spiramycin, HPA-23 and others. Patients and doctors wishing to apply for admission into clinical trials of any AIDS drug should call the FDA at 1-800-9388. For additional information about HPA-23, physicians can contact: Rhone-Poulenc Pharmaceuticals Division of Rhone Poulenc, Inc. P.O. Box 125 Black Horse Lane Monmouth Junction, NJ 08852 Four other orphan drugs are being tested for treatments for AIDS patients who develop Pneumocystic Carinii Pneumonia. Physicians can contact the following companies for information on these orphan drugs (the name of the drug proceeds the address): Diethyldithiocarbamate (Imuthiol) Merieux Institute, Inc. 7844 NW 12th St., Suite 114 Miami, FL 33126 Pentamidine isethionate (no brand name established) Phone-Poulenc, Inc. 52 Vanderbilt Ave. New York, NY Pentamidine isethionate LyphoMed, Inc. 2020 Ruby St. Melrose Park, IL 61060 Trimetrexate glucuronate Warner-Lambert Co. 2800 Plymouth Road P.O. Box 1047 Ann Arbor, MI 48106 Two orphan drugs are undergoing clinical trials for treatment of AIDS-related Kaposi's Sarcoma. For additional information, physicians can contact (the name of the drug proceeds the address): Interferon alfa-nf (Wellferon) Burroughs Wellcome Co. 3030 Cornwallis Rd. Research Triangle park, NC 27709 Interferon alfa-2b (Intron A) Schering Corp. 2000 Galloping Hill Rd. Kenilworth, NJ 07033 Reports about the possibility of the drug Cyclosporine being an effective treatment for AIDS were released prematurely from researchers in France in 1985. This drug is commonly used to suppress the immune system in patients who have received a transplanted organ. The French reports were issued after the drug had been used for only 6 days on a very limited number of patients all of whom died after transient initial improvement. Tests are proceeding on an AIDS vaccine. If successful, the vaccine may be available to the general public during the 1990's. Due to the toxicity of Pentamidine when it is injected into the veins, researchers are conducting studies on an aerosol form of the drug. Preliminary results indicate that the drug may be as effective but less toxic than the injectable drug. For more information on AIDS, see the AIDS Update section listed on the NORD Services menu. For information on additional therapies that have been designated as Orphan Drugs in the last few months, please return to the main menu of NORD Services and access the Orphan Drug Database. Investigational New Drugs (IND'S) for Opportunistic Infections and Cancers as of 1990. More than 80 ongoing human studies have been approved by FDA to test potential drugs to treat opportunistic infections and cancers often found in AIDS patients. Anti-infective therapies and their sponsors include: Trimetrexate, Warner-Lambert Co., Morris Plains, NJ, (201) 540-2000, and National Institute of Allergies and Infectious Diseases (NIAID), Bethesda, MD, (301) 496-5717, for PCP. Eflornithine (DMFO), Merrell-Dow Pharmaceuticals Inc., Cincinnati, OH, (513) 984-9111, for PCP. Aerosol Pentamidine, Fisons Corporation, Bedford, MA, (617) 275-1000; LyphoMed, Rosemont Park, IL, (312) 390-6500; and National Institute of Allergies and Infectious Diseases (NIAID), Bethesda, MD, (301) 496-5717, for PCP. Foscarnet, Astra Pharmaceutical Products, Inc., Westboro, MA, (508), 366-1100, and National Institute of Allergies and Infectious Diseases (NIAID), Bethesda, MD, (301) 496-5717, for cytomegalovirus retinitis. Ansamycin (in combination with other drugs), Adria, Laboratories, Dublin, OH, (614) 764-8100, for mycobacterium avium intracellulare infection. Spiramycin, Rhone-Poulenc, Inc., Monmouth Junction, NJ, (201) 297-0100, for crytosporidiosis. Piritrexim, Burroughs Wellcome Co., Research Triangle Park, NC, (919) 248-3000, for PCP. Immune Globulin IG-IV, Sandoz Pharmaceuticals Corp., East Hanover, NJ, (201) 396-7500; Alpha Therapeutics, Los Angeles, CA, (213) 227-7526; and Miles, Inc., West Haven, CT, (203) 937-2205, for various opportunistic infections. Also, National institutes of Health (NIAID), Bethesda, MD, (301) 496-5717, and National Institute of Child Health and Human Development, (NICHD), Bethesda, MD, (301) 496-5133 for prevention of various opportunistic infections in children. Fluconazole, Pfizer, Inc., New York, NY, (212) 573-2323, for esophageal candidiasis and crytococcal meningitis. Nystatin, Squibb Co., Princeton, NJ, (609) 921-4650, for oral candidiasis prevention. Clofazimine, San Francisco General Hospital, San Francisco, CA, (415) 821-5531, for mycobacterium avium intracellulare. Sandostatin, Sandoz Research Institute, East Hanover, NJ, (201) 396-7500, for AIDS-related diarrhea. Diclazuril, Janssen Pharmaceutica, Piscataway, NJ, (201) 524-9591, for crytosporidial diarrhea. Dapsone, Jacobus Pharmaceutics, Princeton, NJ, (609) 921-7447, for PCP prevention. Clindamycin, mark Jabcobson, M.D., San Francisco, CA, for toxoplasmic encephalitis. Pyrimethamine (DARAPRIM), Burroughs Wellcome Co., Research Triangle Park, NC, (919) 248-3000, for toxoplasmosis prevention. Itraconazole (SPORANOX), Janssen Pharmaceutica, Piscataway, NJ, (201) 524-9591, for histoplasmosis. Experimental immuno-modulating agents and their sponsors include: Lymphoblastoid interferon, Burroughs Wellcome Co., Research Triangle Park, NC, (919) 248-3000, for KS. Experimental Anti-neoplastic agents and their sponsors include: Piritrexim Isethionate, Burroughs Wellcome Co., Research Triangle Park, NC, (919) 248-3000, for KS. Doxorubicin, National Institute of Allergies and Infectious Diseases (NIAID), Bethesda, MD, (301) 496-5717, for KS. Tumor Necrosis Factor, Genentech, Inc., San Francisco, CA, (415) 266-1000, for KS. Menogaril, National Cancer Institute (NCI), Bethesda, MD, (301) 496-6641 for KS. M-BACOD (with Retrovir), National Institute of Allergies and Infectious Diseases (NIAID), Bethesda, MD, (301) 496-5717, for primary lymphoma. Dr. Thomas J. Smith of the University of Kentucky Research Foundation in Lexington, KY, has been awarded a New Grant Award from the Office of Orphan Products Development in 1990. His work studies the linear release of Ganciclovir in related CMV Retinitis. The FDA has approved the following drugs for testing as treatments for AIDS patients: The orphan Dronabinol (Marinol) is being tested as a stimulation of the appetite in AIDS patients. The drug is manufactured by Unimed, Inc., Somerville, NJ. Lactobin is an orphan drug being tested to control diarrhea in AIDS patients who don't respond to initial anti-diarrheal therapy. The drug is manufactured by Roxane Laboratories, Columbus, OH. Treatment of AIDS-related Pneumocystis carinii pneumonia with the orphan drug 566C80 is being tested by Burroughs Wellcome, Co., Research Triangle Park, NC, under the approval of the FDA. The Public Health Services and the Centers for Disease Control (CDC) run a toll free hotline (1-800-HIV-INFO) to provide information about A IDS and referrals to local service providers. The drug company, Genentech, Inc., 460 Point San Bruno Blvd., South San Francisco, CA, 94080, is developing a new orphan drug, Recombinant Human CD4 Immunoglobulin G, for use in the treatment of AIDS resulting from infection with the human immunodeficiency virus. Treatment of Toxoplasmosis in AIDS patients with Poloxamer 331 (Protax) is being tested. The drug is manufactured by Cytrx Corp., Norcross, GA. Granulocyte-colony stimulating factor, recombinant-methionyl, trade name Neupogen, is being tested for CMV-Retinitis in AIDS patients who are also taking ganciclovir. The sponsor is Amgen, Inc., 1840 DeHavilland Dr., Thousand Oaks, CA, 91320-1789. Gynex, Inc., 1175 Corporate Woods Parkway, Vernon Hills, IL, 60061, is the sponsor for the new orphan therapy for AIDS patients with HIV Wasting Syndrome. The trade name for the drug is Oxandrin (Oxandrolone). Clinical trials are underway to study lymphoma, Kaposi's sarcoma and secondary tumors in pediatric patients with AIDS. Interested persons may wish to contact: Dr. Yvonne J. Bryson Dept. of Pediatrics UCLA School of Medicine 10833 LeConte Ave. Los Angeles, CA 90024 (213) 825-5235 to see if further patients are needed for this study. Clinical trials are underway to study 2',3'-Dideoxyinosine (ddI) administered orally twice daily to Zidovudine (ZDV) intolerant patients with HIV infection. Interested persons may wish to contact: Robert T. Schooley, M.D. University of Colorado Health Sciences Center Box B168 Denver, CO 80262 (303) 270-7233 to see if further patients are needed for this study. The treatment of Cytomegalovirus Retinitis in AIDS patients with the orphan drug SDZ-MSL-109 is being sponsored by Sandoz Pharmaceuticals Corp., 59 Route 10, East Hanover, NH, 07936. The orphan product, Somatropin for injection, is being studied for the treatment of AIDS-associated weight loss. The drug is sponsored by Serono Laboratories, Inc., 100 Longwater Circle, Norwell, MA, 02061. The orphan product Cryptosporidium Hyperimmune Bovine Colostrum IgG Concentrate, sponsored by Immucell Corp., 966 Riverside St., Portland, ME, 04103, has received testing permission from the FDA. Dapsone USP has received orphan product from the FDA. The drug is sponsored by Jacobus Pharmaceutical Co., P.O. Box 5290, Princeton, NJ, 08540. The orphan product, Sermorelin Acetate for injection used for the treatment of AIDS-associated catabolism/weight loss, is being sponsored by Serono Laboratories, Inc., 100 Longwater Circle, Norwell, MA, 02061. The orphan product Immupath is being studied as a treatment for AIDS. The product is being sponsored by Hemacare Corp., 4954 Van Nuys Blvd., Sherman Oaks, CA, 91403. The antiviral drug stavudine (d4T) is now available to more AIDS patients, those who cannot tolerate other antiviral drugs or those who have worsened while taking those drugs. Physicians may call Bristol-Myers Squibb Co. at (800) 842-8036 for further information. This disease entry is based upon medical information available through March 1993. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on AIDS, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Computerized AIDS Information Network (CAIN) 1213 North Highland Avenue P.O. Box 38777 Hollywood, CA 90038 (213)464-7400, ext. 450 National Gay Task Force (NGTF) 80 Fifth Avenue, suite 1601 New York, NY 10011 Provides a handbook listing support groups, fund raising organizations, etc. National Hemophilia Foundation 19 West 34th Street New York, NY 10001 (212) 563-0211 NIH/National Institute of Allergy and Infectious Diseases 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5717 Centers for Disease Control 1600 Clifton Road, NE Atlanta, GA 30333 (404) 639-3534 National Sexually Transmitted Diseases Hotline (800) 227-8922 American Social Health Association 100 Capitola Dr., Suite 200 Research Triangle Park, NC 27713 (919) 361-8400 Council for Sex Information and Education 444 Lincoln Blvd., Suite 107 Venice CA 90291 The AIDS Information Clearinghouse has been set up by the ICOA Health Information Network to continuously provide updated information on AIDS to the public. This electronic news and information service is available via AT&T's ACCUNET packet or AT&T Mail and provides information on research, screening and prevention programs, health care costs, confidentiality and discrimination issues. The National Cancer Institute has developed PDQ (Physician Data Query), a computerized database designed to give doctors quick and easy access to many types of information vital to treating patients with this and many other types of cancer. To gain access to this service, a doctor can contact the Cancer Information Service offices at 1-800-4-CANCER. Information specialists at this toll-free number can answer questions about cancer prevention, diagnosis, and treatment. The National Library of Medicine has developed a computerized database called AIDSLINE with scientific articles about AIDS. Health professionals can request access to the database from the MEDLARS management section at 1-800-638-8480. Information on privately funded clinical trials of drugs and biologics used to treat AIDS and AIDS-related illnesses is now available through a toll-free telephone service. The toll-free telephone service is staffed by specially trained information specialists, including some who speak Spanish. Service for the hearing impaired is also available. Information from the phone service is also accessible through DIRLINE, the National Library of Medicine's online computer database. All inquiries are kept confidential. By dialing 1-800-TRIALS-A, callers can find out where studies are located and the eligibility criteria for participants, the name of the product being studied and the purpose of the study, and a contact person and phone number for the company that is sponsoring the clinical trials. References Reports on AIDS Published in the Morbidity and Mortality Weekly Report June 1981 through the present. Centers for Disease Control. Justification of Appropriation Estimates for Committee on Appropriations. Public Health Service Supplementary Budget Data (Moyer Material) A through L. Fiscal Year 1986, Vol. VII. (This publication is available from the National Institute of Health (NIH) and contains information on all AIDS research being funded by NIH.) National Institute of Health Conference. Acquired immunodeficiency syndrome: epidemiologic, clinical, immunologic, and therapeutic considerations. Fauci, A.S., et al. ANN INTERN MED 1983 Jan; 100(1):92-106. Acquired Immunodeficiency Syndrome. Macher, A.M. AM FAM PHYSICIAN 1984 Dec; 30(6):131-44. Acquired immune deficiency syndrome: an update and interpretation. Daul, C.B., et al. ANN ALLERGY 1983 Sep; 51(3):351-61. The acquired immune deficiency syndrome. Pinching, A.J. CLIN EXP IMMUNOL 1984 Apr; 56(1):1-13. Treatment of Kaposi's sarcoma and thrombocytopenia with vincristine in patients with the acquired immunodeficiency syndrome. Mintzer, D.M., et al. ANN INTERN MED 1985 Feb; 102(2):200-2. Treatment of intestinal cryptosporidiosis with spiramycin. Portnoy, D., et al. ANN INTERN MED 1984 Aug; 101(2):202-4. AIDS (Acquired Immune Deficiency Syndrome), part II dis9H (pagetitle theophylline 03347.TXT Copyright (C) 1993 Publications International, Ltd. theophylline and guaifenesin combination _________________________ BRAND NAMES (Manufacturers) Asbron G (Sandoz) Bronchial (various manufacturers) Glyceryl-T (Rugby) Lanophyllin-GG (Lannett) Quiagen (Goldline) Quibron (Bristol Labs) Quibron 300 (Bristol Labs) Slo-Phyllin GG (Rorer) Synophylate-GG (Central) Theocolate (My-K Labs) Theolate (various manufacturers) TYPE OF DRUG Bronchodilator and expectorant INGREDIENT Stheophylline and guaifenesin DOSAGE FORMS Tablets (137 mg or 138 mg theophylline and 100 mg guaifenesin) Capsules (150 mg theophylline and 90 mg guaifenesin; 300 mg theophylline and 180 mg quaifenesin) Oral liquid (100 mg theophylline and 100 mg guaifenesin; 137 mg theophylline and 100 mg guaifenesin; and 150 mg theophylline and 90 mg guaifenesin per 15-ml spoonful, some with alcohol {10% or 15%}) STORAGE Theophylline and guaifenesin combination tablets, capsules, and oral liquid should be stored at room temperature in tightly closed containers. This medication should never be frozen. Discard any outdated medication or medication that is no longer needed. Theophylline and guaifenesin combination medication is prescribed to treat breathing problems (wheezing and shortness of breath) caused by asthma, bronchitis, or emphysema. Theophylline relaxes the smooth muscle of the bronchial airways (breathing tubes), which opens up the air passages, allowing air to move more easily to and from the lungs. Guaifenesin is an expectorant that is used to loosen phlegm, thin bronchial secretions, and promote discharge of mucus from the respiratory tract. TREATMENT Theophylline and guaifenesin should be taken on an empty stomach 30 to 60 minutes before a meal or two hours after a meal. If this medication causes stomach irritation, however, you can take it with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). Antidiarrheal medications and some antacids prevent the absorption of theophylline. Therefore, at least one hour should separate doses of these two types of medication. The dose of the oral liquid should be measured carefully with a 5-ml measuring spoon or a dose cup designed for that purpose. An ordinary kitchen teaspoon is not accurate enough. Theophylline works best when the concentration of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. Do not take more than the recommended dose. SIDE EFFECTS Minor. Diarrhea, dizziness, flushing, headache, heartburn, increased urination, insomnia, irritability, loss of appetite, nausea, nervousness, paleness, stomach pain, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. This medication may cause you to cough more frequently. Coughing is your body's way of discharging the mucus from the respiratory tract. This medication loosens and thins the mucus in your respiratory tract, making your cough more productive. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about black, tarry stools; confusion; convulsions; difficulty in breathing; fainting; muscle twitches; palpitations; rash; severe abdominal pain; or unusual weakness. INTERACTIONS Theophylline interacts with several other types of drugs: 1. It can increase the effects (diuresis, or increased urination) of furosemide. 2. Concurrent use of reserpine and theophylline can cause a rapid heart rate. 3. Beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, timolol) can decrease the effectiveness of theophylline. 4. Theophylline can increase the side effects of over-the-counter (nonprescription) sinus, cough, cold, asthma, allergy, and diet products; digoxin; and oral anticoagulants (blood thinners, such as warfarin). 5. Theophylline can decrease the effectiveness of phenytoin and lithium. 6. Phenobarbital, carbamazepine, and rifampin can increase the elimination of theophylline from the body, decreasing its effectiveness. 7. Cimetidine, erythromycin, troleandomycin, oral contraceptives (birth control pills), allopurinol, and thiabendazole can decrease the elimination of theophylline from the body and increase its side effects. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to theophylline, aminophylline, caffeine, dyphylline, oxtriphylline, theobromine, or guaifenesin. * Tell your doctor if you now have or if you have ever had an enlarged prostate gland, fibrocystic breast disease, heart disease, kidney disease, low or high blood pressure, liver disease, stomach ulcers, or thyroid disease. * Cigarette or marijuana smoking may affect this drug's action. BE SURE TO TELL YOUR DOCTOR if you smoke. Also, do not suddenly stop smoking without informing your doctor. * High fever, diarrhea, the flu, or an influenza vaccination can also affect the action of this drug. You should tell your doctor about episodes of high fever or prolonged diarrhea. Before having any vaccinations, especially those to prevent the flu, BE SURE TO TELL YOUR DOCTOR that you are taking this medication. * Avoid drinking large amounts of caffeine-containing beverages (coffee, cocoa, tea, or cola drinks), and avoid eating large amounts of chocolate. These products may increase the side effects of theophylline. * While you are taking this medication, drink at least eight glasses of water a day to help loosen bronchial secretions (unless your doctor directs you to do otherwise). * Do not change brands of this medication without your doctor's permission. If you receive a refill, and the medication looks different, consult your doctor or pharmacist. * Do not change your diet without first consulting your doctor. A high-protein, low-carbohydrate diet or charbroiled foods can affect the action of this drug. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Your doctor may want you to have regular blood tests done to make sure this medication is working properly. * Elderly patients and young children are more sensitive to the effects of this medication. * Be sure to tell your doctor if you are pregnant. Although theophylline appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding. Small amounts of theophylline pass into breast milk and may cause irritability, fretfulness, and insomnia in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. theophylline and guaifenesin combination med pagetitle theophylline and guaifenesin combination 03348.TXT 'Copyright (C) 1993 Publications International, Ltd. thioridazine _________________________ BRAND NAMES (Manufacturers) Mellaril (Sandoz) Millazine (Major) thioridazine hydrochloride (various manufacturers) TYPE OF DRUG Phenothiazine tranquilizer INGREDIENT thioridazine DOSAGE FORMS Tablets (10 mg, 15 mg, 25 mg, 50 mg, 100 mg, 150 mg, and 200 mg) Oral concentrate (30 mg and 100 mg per ml, with 3% and 4.2% alcohol, respectively) Oral suspension (25 mg and 100 mg per 5-ml spoonful) STORAGE The tablet form of this medication should be stored at room temperature in a tightly closed, light-resistant container. The oral concentrate and oral suspension forms of this medication should be stored in the refrigerator in tightly closed, light-resistant containers. If the oral concentrate or suspension turns slightly yellowish, the medication is still effective and can be used. However, if it changes color markedly or has particles floating in it, it should not be used; rather, it should be discarded down the sink. This medication should never be frozen. Thioridazine is prescribed to treat the symptoms of certain types of mental illness, such as emotional symptoms of psychosis, the manic phase of manic-depressive illness, and severe behavioral problems in children. It may also be used for moderate to marked depression or sleep disturbances in adults. This medication is thought to relieve the symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. Thioridazine may also be used to treat anxiety. TREATMENT In order to avoid stomach irritation, you can take this medication with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). Antacids and antidiarrheal medicines may decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least one hour should separate doses of one of these medicines and thioridazine. The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The oral concentrate form of this medication should be measured carefully with the dropper provided, then added to four ounces (1/2 cup) or more of water, milk, or a carbonated beverage or to applesauce or pudding immediately prior to administration. To prevent possible loss of effectiveness, the medication should not be diluted in tea, coffee, or apple juice. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose (unless your doctor directs you to do so). The full effects of this medication for the control of emotional or mental symptoms may not become apparent for at least two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, vomiting, and weight gain. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Thioridazine can also cause discoloration of the urine to red, pink, or red-brown. This is a harmless effect. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; drooling; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; tremors; uncoordinated movements; unusual bleeding or bruising; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Thioridazine interacts with several other medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications, or with tricyclic antidepressants. 2. Thioridazine can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, metoprolol, propranolol, phenytoin, and tricyclic antidepressants may be increased by this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 4. Lithium may increase the side effects and decrease the effectiveness of this medication. 5. False-positive pregnancy tests may occur. If you think you may be pregnant, call your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to thioridazine or any other phenothiazine tranquilizers (such as chlorpromazine, fluphenazine, mesoridazine, perphenazine, prochlorperazine, promazine, trifluoperazine, and triflupromazine) or to loxapine. * Tell your doctor if you have a history of alcoholism or if you now have or have ever had any blood disease, bone marrow disease, brain disease, breast cancer, blockage in the urinary or digestive tracts, drug-induced depression, epilepsy, high or low blood pressure, diabetes mellitus, glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or enlarged prostate gland. * Tell your doctor about any recent exposure to a pesticide or an insecticide. Thioridazine may increase the side effects from the exposure. * To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking thioridazine. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * This medication can decrease sweating and heat release from the body. You should, therefore, try not to become overheated (avoid exercising strenuously in hot weather, and do not take hot baths, showers, and saunas). * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * If you are planning to have a myelogram, or any other procedure in which dye will be injected into your spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral concentrate or suspension form of this medication on your skin or clothing; either may cause redness and irritation of the skin. * While taking this medication, do not take any over-the-counter (nonprescription) drugs for weight control or for cough, cold, allergy, asthma, or sinus problems unless you first check with your doctor. Concurrent use of any of these drugs and thioridazine may cause high blood pressure. * Your doctor may schedule regular office visits for your first few months of therapy with this medication in order to monitor your progress and possibly adjust your dosage. * Your doctor may want to schedule you for an eye examination if you take thioridazine for longer than a year. Prolonged use of this drug can cause visual disturbances. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding. Small amounts of this medication pass into breast milk and may cause unwanted effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. thioridazine "(pagetitle thioridazine 03349.TXT Copyright (C) 1993 Publications International, Ltd. thiothixene _________________________ BRAND NAMES (Manufacturers) Navane (Roerig) thiothixene (various manufacturers) TYPE OF DRUG Antipsychotic INGREDIENT thiothixene DOSAGE FORMS Capsules (1 mg, 2 mg, 5 mg, 10 mg, and 20 mg) Oral concentrate (5 mg per ml, with 7% alcohol) STORAGE Thiothixene capsules should be stored at room temperature in a tightly closed, light-resistant container. The oral concentrate should be stored in the refrigerator in a tightly closed, light-resistant container. This medication should never be frozen. Discard any medication that is outdated or no longer needed. Thiothixene is prescribed to treat the symptoms of certain types of mental illness, such as emotional symptoms of psychosis. TREATMENT To avoid stomach irritation, you can take the capsule form of thiothixene with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). The oral concentrate form of this medication should be measured carefully with the dropper provided and then added to eight ounces of water, milk, or a carbonated beverage, or to applesauce or pudding immediately prior to administration. To prevent possible loss of effectiveness, this medication should not be diluted in tea, coffee, or apple juice. Antacids and antidiarrheal medicines decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least one hour should separate doses of one of these medicines and thiothixene. If you miss a dose of this medication, take the missed dose as soon as possible and then return to your regular dosing schedule. If it is almost time for the next dose, however, skip the one you missed and return to your regular schedule. Do not double the dose (unless so directed by your doctor). The full effects of this medication for the control of emotional or mental symptoms may not become apparent for at least two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, vomiting, or weight gain. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. Thiothixene can cause discoloration of the urine to red, pink, or red-brown. This is a harmless effect. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; drooling; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; tremors; uncoordinated movements; unusual bleeding or bruising; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Thiothixene interacts with other types of medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications, or with tricyclic antidepressants. 2. Thiothixene can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, and tricyclic antidepressants may be increased by this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 4. Lithium may increase the side effects and decrease the effectiveness of thiothixene. 5. False-positive pregnancy tests may occur. If you think you may be pregnant, call your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to thiothixene, chlorprothixene, or any phenothiazine tranquilizer. * Tell your doctor if you have a history of alcoholism or if you now have or have ever had blood disease, bone marrow disease, brain disease, breast cancer, blockage in the urinary or digestive tract, drug-induced depression, epilepsy, high or low blood pressure, diabetes mellitus, glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or enlarged prostate gland. * Avoid drinking alcoholic beverages while taking this medication, in order to prevent oversedation. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * This medication can decrease sweating and heat release from the body. You should, therefore, try not to become overheated (avoid exercising strenuously in hot weather, and do not take hot baths, showers, and saunas). * Do not stop taking this medication suddenly. If the drug is stopped abruptly you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or worsening of your condition. Your doctor may want to reduce the dosage gradually. * If you are planning to have a myelogram, or any other procedure in which dye is injected into the space surrounding the spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral concentrate form of this medication on your skin or clothing; it can cause redness and irritation of the skin. * While taking this medication, do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems unless you first check with your doctor. The combination of these medications may cause high blood pressure. * Your doctor may schedule regular office visits during your first few months of therapy with this medication in order to monitor your progress. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding. Small amounts of this medication pass into breast milk and may cause unwanted effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. thiothixene pagetitle thiothixene 03350.TXT Copyright (C) 1993 Publications International, Ltd. thyroid hormone _________________________ BRAND NAMES (Manufacturers) Armour Thyroid (USV) S-P-T (Fleming) Thyrar (USV) Thyroid Strong (Marion Merrell Dow) thyroid USP (various manufacturers) TYPE OF DRUG Thyroid hormone INGREDIENT thyroid hormone DOSAGE FORMS Tablets (15 mg, 30 mg, 60 mg, 90 mg, 120 mg, 180 mg, 240 mg, and 300 mg) Sugar-coated tablets (30 mg, 60 mg, 120 mg, and 180 mg) Capsules (60 mg, 120 mg, 180 mg, and 300 mg) Note that 15 mg = 1/4 grain (gr); 30 mg = 1/2 gr; 60 mg = 1 gr; 90 mg = 1 1/2 gr; 120 mg = 2 gr; 180 mg = 3 gr; 240 mg = 4 gr; and 300 mg = 5 gr. STORAGE Store at room temperature in a tightly closed, light-resistant container. Discard outdated medication. This medication is prescribed to replace natural thyroid hormones that are absent because of a thyroid gland disorder. This product is obtained from animal thyroid glands. TREATMENT Thyroid hormone tablets should be taken on an empty stomach with a full glass of water. If this medication upsets your stomach, however, you can check with your doctor to see if you can take the medication with food or milk. In order to get used to taking this medication, try to take it at the same time each day. Try not to miss any doses. If you do miss a dose of this medication, take it as soon as you remember, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss more than one or two doses of this medication, check with your doctor. SIDE EFFECTS Minor. Constipation, dry puffy skin, fatigue, headache, listlessness, muscle aches, or weight gain. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. Most of the major side effects associated with this drug are the result of too large a dose. The dosage of this medication may need to be adjusted if you experience any of the following side effects: chest pain, diarrhea, fever, heat intolerance, insomnia, irritability, leg cramps, menstrual irregularities, nervousness, palpitations, shortness of breath, sweating, trembling, or weight loss. If you experience any of these effects, CHECK WITH YOUR DOCTOR. INTERACTIONS Thyroid hormone interacts with other types of medications: 1. Dosing requirements for digoxin, insulin, or oral antidiabetic agents may change when this medication is used. 2. The effects of oral anticoagulants (blood thinners, such as warfarin) may be increased by thyroid hormone, which could lead to bleeding complications. 3. Cholestyramine and colestipol chemically bind thyroid hormone in the gastrointestinal tract, preventing its absorption. Therefore, at least four hours should separate doses of thyroid hormone and one of these medications. 4. Oral contraceptives (birth control pills) and estrogen-containing drugs may change your dosing requirements for thyroid hormone. 5. Phenobarbital may decrease the effectiveness of thyroid hormone. 6. Phenytoin, tricyclic antidepressants, and over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, or diet medications may increase the side effects of thyroid hormone. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to thyroid hormone or to beef or pork products. * Tell your doctor if you now have or if you have ever had angina pectoris, diabetes mellitus, heart disease, high blood pressure, kidney disease, or an underactive adrenal or pituitary gland. * If you have an underactive thyroid gland, you may need to take this medication for life. You should not stop taking it unless you first check with your doctor. * Patients with certain heart diseases may experience chest pain or shortness of breath while on this medication. Check with your doctor if you experience such effects. Do not overdo physical work or exercise. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking thyroid hormone. * Over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, and diet medications can increase the side effects of thyroid hormone. Therefore, be sure to check with your doctor or pharmacist before taking ANY of these preparations. * Although many thyroid products are on the market, they are not all bioequivalent--that is, they may not all be absorbed into the bloodstream at the same rate or have the same overall activity. DO NOT CHANGE BRANDS of this drug without first consulting your doctor or pharmacist to make sure you are receiving an equivalent product. * Be sure to tell your doctor if you are pregnant. Thyroid hormone does not readily cross the placenta, and the drug appears to be safe during pregnancy. However, your dosing requirements of thyroid hormone may change during pregnancy. Also, tell your doctor if you are breast-feeding. Small amounts of thyroid hormone pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Armour Thyroid 0335001.scf thyroid hormone logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle thyroid hormone 03351.TXT Copyright (C) 1993 Publications International, Ltd. timolol (ophthalmic) _________________________ BRAND NAME (Manufacturer) Timoptic (Merck Sharp & Dohme) TYPE OF DRUG Antiglaucoma ophthalmic solution INGREDIENT timolol DOSAGE FORM Ophthalmic drops (0.25% and 0.5%) STORAGE Timolol ophthalmic drops should be stored at room temperature in a tightly closed container. This medication should never be frozen. If this medication discolors or turns brown, it should be discarded--a color change indicates a loss of potency. Timolol (ophthalmic) is used to reduce pressure in the eye caused by glaucoma or other eye conditions. This medication belongs to a group of drugs known as beta blockers. When applied to the eye, timolol reduces pressure within the eye by decreasing eye fluid (aqueous humor) production and perhaps by increasing the outflow of fluid from the eye. TREATMENT Be sure to wash your hands with soap and water before applying this medication. In order to avoid contamination of the eye drops, be careful not to touch the tube portion of the dropper or let it touch your eye, and do not wipe off or rinse the dropper after you use it. To apply the ophthalmic drops, tilt your head back and pull down your lower eyelid with one hand to make a pouch below the eye. Drop the prescribed amount of medicine into this pouch and slowly close your eyes. Try not to blink. Keep your eyes closed, and place one finger at the corner of the eye next to your nose for a minute or two, applying a slight pressure (this is done to prevent loss of medication through the duct that drains fluid from the surface of the eye into the nose and throat). Then wipe away any excess medication with a clean tissue. Since applying the medication is somewhat difficult to do, you may want to have someone else apply the ophthalmic drops for you. If you miss a dose of this medication, apply the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not apply the missed dose at all; just return to your regular dosing schedule. If the medication is used only once a day, and you do not remember missing a dose until the next day, skip the missed dose. Do not double the next dose. SIDE EFFECTS Minor. When you first apply this medication, you may have a stinging sensation your eyes. This should stop in a few minutes. Major. Be sure to tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about itching, skin rash, hives, or irritation of the eye that lasts more than a few minutes after application. Major side effects are rare when this product is administered correctly. However, rare occurrences of anxiety, confusion, depression, dizziness, drowsiness, generalized rash, indigestion, loss of appetite, nausea, weakness, and a slight reduction of the resting heart rate have been observed in some users of this medication. If you have any of these symptoms, it is important that you contact your doctor as soon as possible. INTERACTIONS Timolol (ophthalmic) may increase the side effects of reserpine and oral beta blockers. Before starting to take timolol (ophthalmic), BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to timolol or to any other beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, or propranolol). * Tell your doctor if you now have or if you have ever had asthma, diabetes mellitus, heart disease, or myasthenia gravis. * Your doctor should check your eye pressure regularly to be sure the glaucoma is under control. * Tell your doctor if you are pregnant. Small amounts of timolol may be absorbed into the bloodstream, and its safety in pregnancy has not been established. Birth defects have been observed in the fetuses of animals that were given large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding. If this drug reaches the bloodstream and passes into the breast milk, it can cause a slowed heart rate in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. timolol (ophthalmic)rt ia pagetitle timolol (ophthalmic) 03352.TXT @+.+Copyright (C) 1993 Publications International, Ltd. timolol and hydrochlorothiazide combination _________________________ BRAND NAME (Manufacturer) Timolide (Merck Sharp & Dohme) TYPE OF DRUG Beta-adrenergic blocking agent and diuretic INGREDIENT Stimolol and hydrochlorothiazide DOSAGE FORM Tablets (10 mg timolol and 25 mg hydrochlorothiazide) STORAGE Timolol and hydrochlorothiazide combination tablets should be stored at room temperature in a tightly closed, light-resistant container. Timolol and hydrochlorothiazide combination is prescribed to treat high blood pressure. Hydrochlorothiazide is a diuretic, which reduces fluid accumulation in the body by increasing the elimination of salt and water through the kidneys. Timolol belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. They work by controlling impulses along certain nerve pathways. TREATMENT This medication can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach--depending on your doctor's instructions. Try to take the medication at the same time(s) each day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. Timolol and hydrochlorothiazide combination does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Abdominal pain, constipation, diarrhea, dizziness, drowsiness, dryness of the eyes and skin, headache, heartburn, loss of appetite, or tiredness. These side effects should disappear as your body adjusts to the medication. If you become extra-sensitive to the cold, be sure to dress warmly during cold weather. Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. Sucking on ice chips or chewing sugarless gum helps to relieve mouth and throat dryness. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and drink more water unless your doctor directs you to do otherwise. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Hydrochlorothiazide can cause increased sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps, wear protective clothing and sunglasses, and use an effective sunscreen. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, chest pain, cold hands or feet (due to decreased blood circulation to skin, fingers, and toes), confusion, decreased sexual ability, depression, difficulty in breathing, dry mouth, fever, hair loss, hallucinations, itching, joint pain, mood changes, muscle pain or cramps, nausea, numbness or tingling in your fingers or toes, palpitations, rapid weight gain (three to five pounds within a week), ringing in the ears, skin rash, sore throat, thirst, unusual bleeding or bruising, vomiting, weakness, or yellowing of the eyes or skin. INTERACTIONS This medicine interacts with other types of medications: 1. Indomethacin, aspirin, and other salicylates may decrease the blood-pressure-lowering effects of beta blockers. 2. Concurrent use of timolol and disopyramide or calcium channel blockers (diltiazem, nifedipine, verapamil) can lead to heart failure or very low blood pressure. 3. Side effects can be increased when timolol is taken with cimetidine, clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, reserpine, chlorpromazine, furosemide, hydralazine, oral contraceptives (birth control pills), or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of timolol and the use of an MAO inhibitor. 4. Timolol can antagonize (act against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 5. Timolol can also interact with insulin and oral antidiabetic agents, raising or lowering blood sugar levels and masking the symptoms of low blood sugar. 6. Alcohol, barbiturates, and rifampin can decrease the blood concentrations of beta blockers, which can result in a decrease of effectiveness. 7. Hydrochlorothiazide can decrease the effectiveness of oral anticoagulants (blood thinners, such as warfarin), antigout medications, and methenamine. 8. Fenfluramine may increase the blood-pressure-lowering effects of this drug, which can be dangerous. 9. Cholestyramine and colestipol can decrease the absorption of hydrochlorothiazide from the gastrointestinal tract. This medication should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications). 10. Hydrochlorothiazide may increase the side effects of amphotericin B, calcium, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D. Before starting to take timolol and hydrochlorothiazide combination, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of the medications that are listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to timolol or any other beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol), hydrochlorothiazide or other diuretics (such as bendroflumethiazide, benzthiazide, chlorothiazide, chlorthalidone, cyclothiazide, hydroflumethiazide, methyclothiazide, metolazone, polythiazide, quinethazone, trichlormethiazide, and furosemide), or to any other sulfa drug (oral antidiabetic medication, or sulfonamide antibiotic). * Be sure to tell your doctor if you now have or if you have ever had any of the following: asthma, diabetes mellitus, heart disease, gout, kidney disease or problems with urination, liver disease, pancreatitis, systemic lupus erythematosus, thyroid disease, or poor circulation in the fingers or toes. * Hydrochlorothiazide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help prevent this problem, your doctor may have blood tests performed periodically to monitor your potassium levels. To help avoid potassium loss, take this medication with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet, however, until you discuss it with your doctor. Too much potassium can also be dangerous. * While taking this medication, you should limit your intake of alcoholic beverages in order to prevent dizziness and light-headedness. * While taking this medication, do not take any over-the-counter (nonprescription) medication for weight control or for allergy, asthma, cough, cold, or sinus problems unless you first check with your doctor. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Blood sugar levels should be monitored carefully with blood or urine tests when this medication is being taken. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * Timolol can affect your body's response to exercise. Make sure you ask your doctor what an appropriate amount of exercise would be for you, taking into account your medical condition. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking this medicine. Often, this medication will be discontinued 48 hours prior to any major surgery. * This medication can cause dizziness, drowsiness, light-headedness, or decreased alertness. Therefore, you should exercise caution while driving a car or operating potentially dangerous machinery. * A doctor does not usually prescribe a "fixed-dose" drug like this as the first choice in the treatment of high blood pressure. Usually, the patient first receives each ingredient singly. If there is an adequate response to the fixed dose contained in this product, it can then be substituted. The advantages of a combination product are increased convenience and (often) decreased cost. * It is important that you do not stop taking this medicine unless you first check with your doctor. Some conditions worsen when this medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may, therefore, want you to gradually reduce the amount of medicine you take before stopping completely. Make sure that you have enough medicine on hand to last through weekends, holidays, and vacations. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. Extensive studies have not been conducted in humans, but there has been some association between beta blockers used during pregnancy and low birth weight, as well as breathing problems and slow heart rate in newborn infants. However, some other reports have shown this type of medication to have no effects on newborn infants. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not yet been reported, small amounts of timolol and hydrochlorothiazide may pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. timolol and hydrochlorothiazide combination Z,pagetitle timolol and hydrochlorothiazide combination 03353.TXT Copyright (C) 1993 Publications International, Ltd. timolol maleate (systemic) _________________________ BRAND NAMES (Manufacturers) Blocadren (Merck Sharp & Dohme) timolol maleate (various manufacturers) TYPE OF DRUG Beta-adrenergic blocking agent INGREDIENT timolol DOSAGE FORM Tablets (5 mg, 10 mg, and 20 mg) STORAGE Timolol should be stored at room temperature in a tightly closed, light-resistant container. Timolol is used to treat high blood pressure and to prevent additional heart attacks in heart attack patients. This drug belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. These drugs work by controlling nerve impulses along certain nerve pathways. TREATMENT Timolol tablets can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach, depending on your doctor's instructions for taking your medication. You should try to take your dose(s) of the medication at the same time(s) each day. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible. However, if the next scheduled dose is within eight hours (if you are taking this medicine only once a day) or within four hours (if you are taking this medicine more than once a day), do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose that you take of this medication. It is important to remember that timolol does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Anxiety; constipation; decreased sexual ability; diarrhea; difficulty in sleeping; drowsiness; dryness of the eyes, mouth, and skin; headache; nausea; nervousness; stomach discomfort; tiredness; or weakness. These side effects should disappear during treatment, as your body adjusts to the medicine. If you are extra-sensitive to the cold, be sure to dress warmly during cold weather. To relieve constipation, increase the fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) unless your doctor directs otherwise. Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. Sucking on ice chips or chewing sugarless gum helps to relieve mouth and throat dryness. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about cold hands or feet (due to decreased blood circulation to skin, fingers, and toes), confusion, depression, dizziness, fever and sore throat, hair loss, hallucinations, light-headedness, nightmares, numbness or tingling of the fingers or toes, rapid weight gain (three to five pounds within a week), reduced alertness, skin rash, swelling, unusual bleeding or bruising, or wheezing or difficulty in breathing. INTERACTIONS Timolol may interact with several other types of drugs: 1. Indomethacin has been shown to decrease the blood-pressure-lowering effects of the beta blockers. This may also happen with aspirin or other salicylates. 2. Concurrent use of beta blockers and calcium channel blockers (diltiazem, nifedipine, or verapamil) or disopyramide can lead to heart failure or very low blood pressure. 3. Cimetidine and oral contraceptives (birth control pills) can increase the blood concentrations of timolol, which can result in greater side effects. 4. Side effects may also be increased when beta blockers are taken with clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, reserpine, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of a beta blocker and the use of an MAO inhibitor. 5. Alcohol, barbiturates, and rifampin can decrease the blood concentrations of beta blockers, which can result in a decrease in effectiveness. 6. Beta blockers may antagonize (work against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 7. Beta blockers can also interact with insulin or oral antidiabetic agents, raising or lowering blood sugar levels or masking the symptoms of low blood sugar. 8. The action of beta blockers may be increased if they are used with chlorpromazine, furosemide, or hydralazine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Before starting to take this medication, it is important to tell your doctor if you have ever had unusual or allergic reactions to timolol or to any beta blocker (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, or propranolol). * Tell your doctor if you now have or if you have ever had allergies, asthma, hay fever, eczema, slow heartbeat, bronchitis, diabetes mellitus, emphysema, heart or blood vessel disease, kidney disease, liver disease, thyroid disease, or poor circulation in the fingers or toes. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * This medicine may affect your body's response to exercise. Be sure you discuss with your doctor how much exercise is safe for you, taking into account your medical condition. * It is important that you do not stop taking this medicine unless you first check with your doctor. Some conditions may become worse when the medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may want you to gradually reduce the amount of medicine you take before stopping completely. Make sure that you have enough medicine on hand to last through weekends, vacations, and holidays. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking this medication. Often, this medication will be discontinued 48 hours prior to major surgery. * This medication can cause dizziness, drowsiness, light-headedness, or decreased alertness. Exercise caution while driving a car or using any potentially dangerous machinery. * While taking this medicine, do not use any over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, or diet preparations unless you first check with your pharmacist or doctor. Some of these medicines can result in high blood pressure when combined with timolol. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. There has been some association between use of beta blockers during pregnancy and low birth weight, as well as breathing problems and slow heart rate in newborn infants. However, other reports have shown no effects on newborn infants. Also, tell your doctor if you are breast-feeding. Small amounts of timolol may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Blocadren 10 mg,Blocadren 20 mg 0335301.scf,0335302.scf/ timolol maleate (systemic) logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials "pagetitle timolol maleate (systemic) 03354.TXT Copyright (C) 1993 Publications International, Ltd. tobramycin (ophthalmic) _________________________ BRAND NAME (Manufacturer) Tobrex (Alcon) TYPE OF DRUG Ophthalmic antibiotic INGREDIENT tobramycin DOSAGE FORMS Ophthalmic drops (0.3% tobramycin) Ophthalmic ointment (0.3% tobramycin) STORAGE The ophthalmic solution and ointment should be stored at room temperature in tightly closed containers. Discard any medication that is outdated or no longer needed. Tobramycin ophthalmic is used for the short-term treatment of bacterial infections of the eyes. Tobramycin is an aminoglycoside antibiotic, which acts to prevent the growth and multiplication of infecting bacteria. TREATMENT Wash your hands with soap and water before using this medication. In order to prevent contamination of the medicine, be careful not to touch the tube portion of the dropper and do not let it touch the eye. Note that the bottle of the eye drops is not completely full--this is to allow control of the number of drops used. To apply the drops, tilt your head back and pull down the lower eyelid with one hand to make a pouch below the eye. Drop the prescribed amount of medicine into the pouch and slowly close your eyes. Try not to blink. Keep your eyes closed, and place one finger at the corner of the eye next to your nose for a minute or two, applying a slight pressure (this is done to prevent loss of medication through the duct that drains fluid from the surface of the eye into the nose and throat). Then wipe away any excess with a clean tissue. If you think that the medicine did not get into your eye, repeat the process once. If you are using more than one type of eye drop, wait at least five minutes between doses of the two types of medication. Follow the same general procedure for applying the ointment. Tilt your head back, pull down the lower eyelid, and squeeze the prescribed amount of ointment in a line along the pouch below the eye. Close your eyes, and place your finger at the corner of the eye, near the nose, for a minute or two. Do not rub your eyes. Wipe off excess ointment and the tip of the tube with clean tissues. Since applying the medication is somewhat difficult to do, you may want someone else to administer the drops or ointment for you. If you miss a dose of this drug, insert the drops or apply the ointment as soon as possible, unless it is almost time for the next application. In that case, do not use the missed dose at all; just return to your regular dosing schedule. It is important to continue to take this medication for the entire time prescribed by your doctor, even if the symptoms of infection disappear before the end of that period. If you stop applying the medication too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Blurred vision, burning, or stinging. These side effects should disappear as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about disturbed or reduced vision; eye pain, itching, or swelling; severe irritation; or rash. INTERACTIONS This medication should not interact with other medication as long as it is used according to directions. WARNINGS * Tell your doctor about any reactions you have had to drugs, especially to tobramycin or to any other aminoglycoside antibiotic (amikacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, streptomycin, or viomycin). * Before starting tobramycin (ophthalmic), tell your doctor if you now have or if you have ever had fungal or viral infections of the eye, kidney disease, or myasthenia gravis. * If there is no change in your condition two or three days after starting to take this drug, contact your doctor. The drug may not be effective for your infection. * This medication has been prescribed for your current infection only. A subsequent infection, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it to treat other infections, unless your doctor specifically directs you to do so. * In order to allow your eye infection to clear, do not apply makeup to the affected eye. * Be sure to tell your doctor if you are pregnant. Extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of tobramycin may pass into the breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. tobramycin (ophthalmic) pagetitle tobramycin (ophthalmic) 03355.TXT Copyright (C) 1993 Publications International, Ltd. tocainide _________________________ BRAND NAME (Manufacturer) Tonocard (Merck Sharp & Dohme) TYPE OF DRUG Antiarrhythmic INGREDIENT tocainide DOSAGE FORM Tablets (400 mg and 600 mg) STORAGE Store at room temperature in a tightly closed container. Tocainide is used to treat heart arrhythmias. It suppresses irregular heartbeats and helps to achieve a more normal rhythm. TREATMENT To decrease stomach irritation, you can take tocainide with a glass of milk or with food (unless your doctor directs you to do otherwise). Try to take the drug at the same time(s) every day. Tocainide works best when the amount of drug in your bloodstream is kept constant. This medication should, therefore, be taken at evenly spaced intervals day and night. For example, if you are to take tocainide three times per day, the doses should be spaced eight hours apart. Try not to miss any doses of tocainide. If you do miss a dose, take the missed dose as soon as possible. However, if the next scheduled dose is within four hours (if you are taking tocainide three times daily) or within six hours (if you are taking it twice daily), do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, altered taste, anxiety, constipation, diarrhea, difficulty in swallowing, dizziness, drowsiness, dry mouth, fatigue, headache, heartburn, hot or cold feelings, increased thirst, light-headedness, loss of appetite, nausea, restlessness, sweating, or vomiting. These side effects should disappear as your body adjusts to this medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. If you experience mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, chills, confusion, coughing, depression, disorientation, earache, fever, hair loss, hallucinations, hearing loss, incoordination, itching, leg cramps, mental changes, mood changes, mouth sores, muscle or joint pain, neck pain, palpitations, rash, ringing in the ears, seizures, shakiness, shortness of breath, sleep disorders, slurred speech, sore throat, tingling in the fingers or toes, unsteadiness, unusual bleeding or bruising, urination problems, visual disturbances, weakness, wheezing, or yellowing of the skin or eyes. INTERACTIONS The concurrent use of tocainide and metoprolol can have additive negative effects on the heart. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially metoprolol. WARNINGS * Be sure to tell your doctor about any unusual or allergic reactions you have had to any medications, especially to tocainide or any other chemically related local anesthetic or antiarrhythmic, such as bupivacaine, dibucaine, etidocaine, lidocaine, mepivacaine, or prilocaine. * Before starting tocainide, be sure to tell your doctor if you now have or if you have ever had blood disorders, bone marrow disease, heart block, heart failure, kidney disease, or liver disease. * Before surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * During the first three months of tocainide therapy, your doctor may schedule periodic blood counts. It is important for you to have these blood tests done to monitor for possible side effects on the bone marrow. * Tell your doctor if you are pregnant. Studies in pregnant women have not been conducted. However, adverse effects have occurred in the offspring of animals that were given large doses of tocainide. Also, tell your doctor if you are breast-feeding an infant. It is not yet known if tocainide passes into human breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. tocainide pagetitle tocainide 03356.TXT Copyright (C) 1993 Publications International, Ltd. tolazamide _________________________ BRAND NAMES (Manufacturers) tolazamide (various manufacturers) Tolinase (Upjohn) TYPE OF DRUG Oral antidiabetic INGREDIENT tolazamide DOSAGE FORM Tablets (100 mg, 250 mg, and 500 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Discard any outdated medication. Tolazamide is used for the treatment of diabetes mellitus (sugar diabetes) that appears in adulthood and cannot be managed by control of diet alone. This type of diabetes is known as non-insulin-dependent diabetes (also called maturity-onset or Type II diabetes). Tolazamide lowers the blood sugar level by increasing the release of insulin. TREATMENT In order for this medication to work correctly, it must be taken as directed by your doctor. It is best to take this medicine at the same time each day in order to maintain a constant blood sugar level. It is, therefore, important to try not to miss any doses of tolazamide. If you do miss a dose, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Tell your doctor if you feel any side effects from missing a dose of this drug. SIDE EFFECTS Minor. Diarrhea, headache, heartburn, loss of appetite, nausea, stomach discomfort, stomach pain, or vomiting. These side effects usually disappear as your body adjusts to the drug. Tolazamide may increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about dark urine, fatigue, itching of the skin, light-colored stools, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Tolazamide interacts with several other types of drugs: 1. Chloramphenicol, guanethidine, fenfluramine, sulfinpyrazone, insulin, monoamine oxidase (MAO) inhibitors, oxyphenbutazone, oxytetracycline, phenylbutazone, pro-benecid, aspirin or other salicylates, and sulfonamide antibiotics, when combined with tolazamide, can lower blood sugar levels--sometimes to dangerously low levels. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 2. Thyroid hormones, dextrothyroxine, epinephrine, phenytoin, thiazide diuretics (water pills), and cortisone-like medications (such as dexamethasone, hydrocortisone, and prednisone), combined with tolazamide, can actually increase blood sugar levels--just what you are trying to avoid. 3. Rifampin can decrease the blood concentrations of tolazamide, which can lead to a decrease in its effectiveness. 4. Oral antidiabetic medications can increase the effects of warfarin, which can lead to bleeding complications. 5. Beta-blocking medications (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, or timolol) combined with tolazamide can result in either high or low blood sugar levels. Beta blockers can also mask the symptoms of low blood sugar, which can be dangerous. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * It is important to tell your doctor if you have ever had unusual or allergic reactions to tolazamide or to any other sulfa medication (sulfonamide antibiotics, diuretics [water pills], or other oral antidiabetics). * It is also important to tell your doctor if you now have or if you have ever had kidney disease, liver disease, severe infections, or thyroid disease. * Avoid drinking alcoholic beverages while taking this medication (unless otherwise directed by your doctor). Some patients who take this medicine suffer nausea, vomiting, dizziness, stomach pain, pounding headache, sweating, and redness of the face and skin when they drink alcohol. Also, large amounts of alcohol can lower your blood sugar concentration to a dangerously low level. * Follow the special diet that your doctor gave you. This is an important part of controlling your blood sugar and is necessary in order for this medicine to work properly. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medicine. * Test for sugar in your urine as directed by your doctor. It is a convenient way to determine whether your diabetes is being controlled by this medicine. * Eat or drink something containing sugar right away if you experience any symptoms of hypoglycemia (low blood sugar), such as anxiety, chills, cold sweats, cool or pale skin, drowsiness, excessive hunger, headache, nausea, nervousness, rapid heartbeat, shakiness, or unusual tiredness or weakness. It is important that your family and friends know the symptoms of low blood sugar and what to do if they observe any of these symptoms in you. Even if the hypoglycemic symptoms seem to disappear after you eat or drink a sugar-containing product, it is important to contact your doctor as soon as possible. The blood-sugar-lowering effects of tolazamide can last for hours, and your symptoms may return during this period. Good sources of sugar are orange juice, corn syrup, honey, sugar cubes, and table sugar. You are at greatest risk of developing low blood sugar if you skip or delay meals, exercise more than usual, are unable to eat because of nausea or vomiting, or drink large amounts of alcohol. * You may need to be switched to insulin if you suffer diabetic coma, have a severe infection, are scheduled for major surgery, or become pregnant. * Be sure to tell your doctor if you are pregnant. Your dosing requirements for tolazamide may change during pregnancy. Although extensive studies in humans have not been conducted, adverse effects have been observed in the fetuses of animals that received this type of medication during pregnancy. Also, be sure to tell your doctor if you are breast-feeding an infant. Small amounts of tolazamide may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. tolazamideetur pagetitle tolazamide 03357.TXT Copyright (C) 1993 Publications International, Ltd. tolbutamide _________________________ BRAND NAMES (Manufacturers) Oramide (Major) Orinase (Upjohn) tolbutamide (various manufacturers) TYPE OF DRUG Oral antidiabetic INGREDIENT tolbutamide DOSAGE FORM Tablets (250 mg and 500 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Discard any outdated medication. Tolbutamide is used for the treatment of diabetes mellitus (sugar diabetes) that appears in adulthood and cannot be managed by control of diet alone. This type of diabetes is known as non-insulin-dependent diabetes (also called maturity-onset or Type II diabetes). Tolbutamide lowers blood sugar by increasing the release of insulin from the pancreas. TREATMENT In order for this medication to work correctly, it must be taken as directed by your doctor. It is best to take this medicine at the same time(s) each day, in order to maintain a constant blood sugar level. It is, therefore, important to try not to miss any doses of tolbutamide. If you do miss a dose, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Tell your doctor if you feel any side effects from missing a dose of this drug. SIDE EFFECTS Minor. Diarrhea, headache, heartburn, loss of appetite, nausea, stomach discomfort, stomach pain, or vomiting. These side effects usually disappear during treatment, as your body adjusts to the medication. Tolbutamide may increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about dark urine, fatigue, itching of the skin, light-colored stools, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Tolbutamide interacts with a number of other types of drugs: 1. The combination of tolbutamide and chloramphenicol, guanethidine, insulin, fenfluramine, sulfinpyrazone, monoamine oxidase (MAO) inhibitors, oxyphenbutazone, oxytetracycline, phenylbutazone, probenecid, aspirin or other salicylates, or sulfonamide antibiotics can lower blood sugar levels--sometimes to dangerously low levels. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 2. Thyroid hormones, dextrothyroxine, epinephrine, phenytoin, thiazide diuretics (water pills), and cortisone-like medications (such as dexamethasone, hydrocortisone, and prednisone), combined with tolbutamide, can actually increase blood sugar levels--just what you are trying to avoid. 3. Rifampin can decrease the blood concentrations of tolbutamide, which can lead to a decrease in its effectiveness. 4. Oral antidiabetic medications can increase the effects of blood thinners, such as warfarin, which can lead to bleeding complications. 5. The combination of tolbutamide and beta-blocking medications (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, or timolol) can result in either high or low blood sugar levels. Beta blockers can also mask the symptoms of low blood sugar, which can be dangerous. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * It is important to tell your doctor if you have ever had unusual or allergic reactions to tolbutamide or to any other sulfa medication (sulfonamide antibiotics, diuretics [water pills], or other oral antidiabetics). * It is also important to tell your doctor if you now have or if you have ever had kidney disease, liver disease, severe infection, or thyroid disease. * Be sure to avoid drinking alcoholic beverages while taking this medication (unless otherwise directed by your doctor). Some patients who take this medicine suffer nausea, vomiting, dizziness, stomach pain, pounding headache, sweating, and redness of the face and skin when they drink alcohol. Also, large amounts of alcohol can lower your blood sugar concentration to a dangerously low level. * Follow the special diet that your doctor gave you. This is an important part of controlling your blood sugar levels and is necessary in order for this medicine to work properly. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist about this drug. * It is very important to test for sugar in your urine as directed by your doctor. This is a convenient way to determine whether your diabetes is being controlled by this medicine. * Eat or drink something containing sugar right away if you experience any symptoms of hypoglycemia (low blood sugar), such as anxiety, chills, cold sweats, cool or pale skin, drowsiness, excessive hunger, headache, nausea, nervousness, rapid heartbeat, shakiness, or unusual tiredness or weakness). It is important that your family and friends know the symptoms of low blood sugar and what to do if they observe any of these symptoms in you. Even if the hypoglycemic symptoms seem to disappear after you eat or drink a sugar-containing product, it is important to contact your doctor as soon as possible. The blood-sugar-lowering effects of tolbutamide can last for hours, and your symptoms may return during this period. Good sources of sugar are orange juice, corn syrup, honey, sugar cubes, and table sugar. You are at greatest risk of developing low blood sugar if you skip or delay meals, exercise more than usual, are unable to eat because of nausea or vomiting, or drink large amounts of alcohol. * You may need to be switched to insulin if you have a severe infection, are scheduled for major surgery, suffer diabetic coma, or become pregnant. * Be sure to tell your doctor if you are pregnant. Your dosing requirements for tolbutamide may change during pregnancy, or you may be switched to insulin. Although extensive studies in humans have not been conducted, adverse effects have been observed in the fetuses of animals that received the drug tolbutamide during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Since small amounts of tolbutamide may pass into breast milk, cautious use is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. tolbutamide pagetitle tolbutamide 03327.TXT Copyright (C) 1993 Publications International, Ltd. selegiline _________________________ BRAND NAME (Manufacturer) Eldepryl (Somerset) TYPE OF DRUG Antiparkinson agent INGREDIENT selegiline DOSAGE FORM Tablets (5 mg) STORAGE Selegilene should be stored at room temperature in a tightly closed container. This medication is used either alone or in combination with levodopa or levodopa/carbidopa to treat the symptoms of Parkinson's disease. This drug helps to increase and extend the beneficial effects of levodopa. Recent studies suggest that selegiline may help to slow the progression of Parkinson's disease when taken early in the course of the disease. This drug has also been used to treat depression. TREATMENT This drug should be taken exactly as your doctor prescribes. You can take it with food to lessen the chance of irritation, unless your doctor tells you otherwise. If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular dosing schedule. However, if you do not remember the missed dose until late afternoon or evening, skip the missed dose. If the drug is taken late in the afternoon, it may cause some unwanted side effects. Never double the dose. The full effects of this medication may not be apparent for two to three days. At that time, your doctor may change your dose of levodopa or levodopa/ carbidopa. SIDE EFFECTS Minor. Dizziness, drowsiness, dryness of mouth, headache, heartburn, light-headedness, nausea, nervousness, restlessness, stomach pain, trouble sleeping, or vomiting. These side effects should lessen or disappear as your body adjusts to the medication. Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips or a piece of hard candy. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blood in your urine; chest pain; convulsions; dark or tarry stools; difficulty in breathing; difficulty in speaking; difficulty in urination; fast heartbeat; feelings of euphoria; hallucinations; mood changes; persistent restlessness; severe stomach pain; stiff neck; or uncontrolled movements of your arms, legs, or face. INTERACTIONS When taken in the recommended dose at the times directed by your doctor, selegiline should not interact with many types of medications or foods. Tell your doctor if you have taken the drug meperidine in the two to three weeks before starting selegiline therapy. Be sure to tell your doctor about any medications, including over-the-counter products, you are currently taking. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to any medications, especially to selegiline or to any monoamine oxidase (MAO) inhibitors (such as tranylcypromine, phenelzine, and isocarboxazid). * Tell your doctor if you have a history of stomach problems, intestinal problems, asthma, high blood pressure, or seizure disorders. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Your doctor may give you a list of foods that you should either avoid or limit in your diet. These foods or beverages may include those containing caffeine (coffee, tea, cola, or chocolate) or those containing a substance called tyramine (found in certain cheeses and meats). * Be sure to tell your doctor if you are pregnant. This drug has not caused adverse effects to the fetuses in animal studies, and problems in humans have not been reported. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. selegiline the pagetitle selegiline 03328.TXT Copyright (C) 1993 Publications International, Ltd. sodium sulfacetamide (ophthalmic) _________________________ BRAND NAMES (Manufacturers) AK-Sulf (Akorn) AK-Sulf Forte (Akorn) Bleph-10 (Allergan) Cetamide (Alcon) Isopto Cetamide (Alcon) Ophthacet (Vortech) Sodium Sulamyd (Schering) sodium sulfacetamide (various manufacturers) Sulf-10 (Iolab Pharm.) Sulfair 15 (Pharmafair) Sulten-10 (Bausch & Lomb) TYPE OF DRUG Ophthalmic antibiotic INGREDIENT sodium sulfacetamide DOSAGE FORMS Ophthalmic drops (10%, 15%, and 30%) Ophthalmic ointment (10%) STORAGE Sodium sulfacetamide drops and ointment should be stored at room temperature in tightly closed containers. This medication should never be frozen. If the eye drops discolor or turn brown, they should be discarded. Sodium sulfacetamide is used to treat bacterial eye infections and corneal ulcers. Sodium sulfacetamide is an antibiotic that is effective against a wide range of bacteria. It acts by preventing production of the nutrients that are required for growth of the infecting bacteria. This medication, however, is not effective against infections that are caused by viruses or fungi. TREATMENT Wash your hands with soap and water before applying this medication. To avoid contamination of the eye drops or ointment, be careful not to touch the tube of the dropper or the tip of the ointment tube or let them touch your eyes; DO NOT wipe off or rinse the dropper after use. To apply the drops, tilt your head back and pull down the lower eyelid with one hand to make a pouch below the eye. Drop the prescribed amount of medicine into this pouch and slowly close your eyes. Try not to blink. Keep your eyes closed, and place one finger at the corner of the eye next to your nose for a minute or two, applying a slight pressure (this is done to prevent loss of medication through the duct that drains fluid from the surface of the eye into the nose and throat). Then wipe away any excess with a clean tissue. To apply the ointment, tilt the head back, pull down the lower lid to form a pouch below the eye, and squeeze a small amount of ointment (approximately 1/8 to 1/4 inch) in a line along the pouch. Close the eyes, and place your finger at the corner of the eye next to your nose for a minute or two. Do not rub your eyes. Wipe off excess ointment with a clean tissue. Since this medication is somewhat difficult to apply, you may want to have someone else apply it for you. It is important to continue to take this medication for the entire time prescribed by your doctor, even if the symptoms disappear before the end of that period. If you stop applying the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. If you miss a dose of this medication, apply the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not apply the missed dose at all; just return to your regular dosing schedule. Do not use twice as much medication at the next dose. SIDE EFFECTS Minor. Sodium sulfacetamide may cause blurred vision or burning or stinging in the eyes immediately after it is applied (especially the 30% solution). This effect should last only a few minutes. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about signs of irritation in the eyes (such as redness, swelling, or itching) that last more than several minutes, chills, fever, itching, or difficulty in breathing. If your symptoms of infection are getting worse rather than improving, contact your doctor. INTERACTIONS This drug should not be used concurrently with preparations containing silver, such as silver nitrate opthalmic. Be sure to tell your doctor about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to sodium sulfacetamide or to any other sulfa medication (diuretics, oral antidiabetic medications, sulfonamide antibiotics). * This medication may cause allergic-type symptoms, such as hives, itching, wheezing, or anaphylaxis, in sulfite-sensitive patients. * Sodium sulfacetamide may cause eye sensitivity to bright light; wearing sunglasses may help to lessen this problem. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * In order to allow your eye infection to clear, do not apply makeup to the affected eye. * If there is no change in your condition two or three days after starting to take this medication, contact your doctor. * Be sure to tell your doctor if you are pregnant. The safe use of this medication in human pregnancy has not been established. Although an ophthalmic, if large amounts of this drug are applied for prolonged periods, some of it may be absorbed into the bloodstream. Also, tell your doctor if you are breast-feeding an infant. If this drug is absorbed, small amounts may pass into the breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. sodium sulfacetamide (ophthalmic) pagetitle sodium sulfacetamide (ophthalmic) 03329.TXT Copyright (C) 1993 Publications International, Ltd. spironolactone _________________________ BRAND NAMES (Manufacturers) Alatone (Major) Aldactone (Searle) spironolactone (various manufacturers) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT spironolactone DOSAGE FORM Tablets (25 mg, 50 mg, and 100 mg) STORAGE Spironolactone should be stored at room temperature in a tightly closed, light-resistant container. This drug is used to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some drugs. Spironolactone reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. It may be used in combination with other diuretics to prevent potassium loss. Since spironolactone blocks the effects of a chemical (aldosterone) released from the adrenal gland, it can also be used to diagnose and treat an overactive adrenal gland. TREATMENT To decrease stomach irritation, you can take spironolactone with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Cramping, diarrhea, dizziness, drowsiness, dry mouth, headache, increased urination, nausea, rash, restlessness, vomiting, or weakness. As your body adjusts to the medication, these side effects should disappear. Dry mouth can be relieved by chewing sugarless gum. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety; clumsiness; confusion; deepening of the voice (in women); enlarged breasts (in both sexes); fever; impotence; increased hair growth; menstrual disturbances; muscle cramps; numbness or tingling in the hands, feet, or lips; palpitations; postmenopausal bleeding; rapid weight gain (three to five pounds within a week); stomach cramps; uncoordinated movements; or unusual tiredness or weakness. INTERACTIONS Spironolactone interacts with several foods and medications: 1. Concurrent use of spironolactone with amiloride, captopril, triamterene, potassium salts, low-salt milk, salt substitutes, or laxatives can cause serious side effects such as hyperkalemia (high levels of potassium in the blood). 2. Spironolactone may increase the side effects of lithium, digoxin, digitoxin, and ammonium chloride. 3. The effectiveness of oral anticoagulants (blood thinners, such as warfarin) may be decreased by this medication. 4. Aspirin may decrease the diuretic effects of spironolactone. Before starting to take spironolactone, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to spironolactone or to any other diuretic. * Tell your doctor if you now have or if you have ever had kidney or urination problems, heart disease, hyperkalemia (high blood levels of potassium), liver disease, menstrual abnormalities, breast enlargement, or diabetes mellitus. * Spironolactone can cause hyperkalemia. Signs of hyperkalemia include palpitations; confusion; numbness or tingling in the hands, feet, or lips; anxiety; or unusual tiredness or weakness. However, do not alter your diet in an effort to avoid this problem, unless your doctor tells you to do so. Elderly patients may be more susceptible to hyperkalemia. * There are several "generic brands" of this drug. Consult your pharmacist about these items; some of them are not equivalent to the brand-name medications. * Limit your intake of alcoholic beverages to prevent dizziness and light-headedness while taking this drug. * Do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, cough, cold, or sinus problems unless you first check with your doctor. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta, and its safety in human pregnancy has not been established. Adverse effects have been observed in the fetuses of animals that were given large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. spironolactone of pagetitle spironolactone 03330.TXT Copyright (C) 1993 Publications International, Ltd. spironolactone and hydrochlorothiazide combination _________________________ BRAND NAMES (Manufacturers) Alazide (Major) Aldactazide (Searle) Spironazide (Henry Schein) spironolactone and hydrochlorothiazide (various manufacturers) Spirozide (Rugby) TYPE OF DRUG Diuretic and antihypertensive INGREDIENTS spironolactone and hydrochlorothiazide DOSAGE FORM Tablets (25 mg spironolactone and 25 mg hydrochlorothiazide; 50 mg spironolactone and 50 mg hydrochlorothiazide) STORAGE Store at room temperature in a tightly closed, light-resistant container. Spironolactone and hydrochlorothiazide combination is prescribed to treat high blood pressure. It is also used to reduce fluid acccumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. This medication reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. Spironolactone is combined with hydrochlorothiazide to prevent potassium loss from the body. TREATMENT To decrease stomach irritation, you can take this medication with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Constipation, cramping, diarrhea, dizziness, headache, increased urination, loss of appetite, lack of energy, light-headedness, restlessness, or unusual sweating. These side effects should disappear as your body adjusts to this medication. This medication can increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety; blurred vision; breast tenderness or enlargement (in both sexes); clumsiness; confusion; deepening of the voice (in women); drowsiness; dry mouth; impotence; increased hair growth; irregular menstrual periods or vaginal bleeding; joint pain; mood changes; muscle cramps; nausea; numbness or tingling in the hands, feet, or lips; palpitations; rapid weight gain (three to five pounds within a week); rash; sore throat and fever; swelling; thirst; unusual bleeding or bruising; unusual tiredness or weakness; vomiting; or yellowing of the eyes or skin. INTERACTIONS Spironolactone and hydrochlorothiazide combination interacts with several foods and medications: 1. Concurrent use of it with amiloride, captopril, certain antihypertensives such as enalapril and lisinopril, triamterene, potassium salts, low-salt milk, salt substitutes, or laxatives can cause serious side effects from hyperkalemia (high levels of potassium in the blood). 2. This drug may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 3. Fenfluramine may increase the blood-pressure-lowering effects of this drug. 4. Indomethacin and aspirin may decrease the blood-pressure-lowering effects of this drug. 5. Cholestyramine and colestipol can decrease the absorption of this medication from the gastrointestinal tract. Therefore, spironolactone and hydrochlorothiazide combination should be taken one hour before or four hours after a dose of cholestyramine or colestipol if either of these medications has also been prescribed for you. 6. Spironolactone and hydrochlorothiazide may increase the side effects of calcium, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, and prednisolone), digoxin, digitoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to spironolactone or hydrochlorothiazide or to any other sulfa drug, including other diuretics (water pills), oral antidiabetic medications, or sulfonamide antibiotics. * Before you start taking this medication, tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreas disease, systemic lupus erythematosus, hyperkalemia, menstrual abnormalities, breast enlargement, acidosis, or hypercalcemia. * The hydrochlorothiazide component of this drug can occasionally cause potassium loss from the body. Signs of potassium loss include dry mouth, muscle pain or cramps, nausea, thirst, vomiting, and weakness. If you experience any of these symptoms, call your doctor. * The spironolactone component of this drug can cause hyperkalemia, or increased potassium levels in the body. Signs of hyperkalemia include anxiety; confusion; numbness or tingling in the hands, feet, or lips; palpitations; or unusual tiredness or weakness. Do not alter your diet in an attempt to avoid this problem unless you first consult your doctor. Elderly patients may be more susceptible to hyperkalemia. * There are several "generic brands" of this drug. Products made by different companies may not work in exactly the same way. Before switching brands, consult you doctor or pharmacist. * Limit your intake of alcoholic beverages to prevent dizziness and lightheadedness while taking this drug. * Do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, cough, cold, or sinus problems unless you check with your doctor. * To prevent severe water loss (dehydration), check with your doctor if you develop any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This drug can raise blood sugar levels in diabetic patients. Blood sugar should be monitored carefully with blood or urine tests when this drug is being taken. * A doctor does not usually prescribe a "fixed-dose" drug like this as the first choice in the treatment of high blood pressure. Usually, the patient first receives each ingredient singly. If there is an adequate response to the fixed dose contained in this product, it can then be substituted. The advantages of a combination product are increased convenience and (often) decreased cost. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta, and its safety in human pregnancy has not been established. Adverse effects have been observed in the fetuses of animals that were given large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. spironolactone and hydrochlorothiazide combinationhese !pagetitle spironolactone and hydrochlorothiazide combination 03331.TXT Copyright (C) 1993 Publications International, Ltd. succimer _________________________ BRAND NAME (Manufacturer) Chemet (McNeil Consumer Products) TYPE OF DRUG Oral chelator (remover) for lead INGREDIENT succimer DOSAGE FORM Capsules (100mg) STORAGE Succimer capsules should be stored at room temperature in a tightly closed, light-resistant container. Succimer is used to remove excess lead in the body. Although patients with excess lead levels may not look or act sick, the lead may cause learning difficulties if left untreated over time. Succimer binds to the excess lead in the bloodstream. The combination of lead and succimer is removed from the body when the patient urinates. TREATMENT In order to avoid stomach upset, succimer capsules can be taken whole with food or with a glass of milk (unless your doctor directs you to do otherwise). If succimer is prescribed for a young child who cannot swallow capsules, you may open the capsule and sprinkle the contents on a spoonful of soft food such as applesauce, ice cream, or pudding. SIDE EFFECTS Minor. Bad or metallic taste in mouth, diarrhea, loss of appetite, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about skin rash, severe abdominal pain, severe headaches, tingling in the arms or legs, or yellowing of the skin or eyes. INTERACTIONS It is not known at this time whether or not succimer interacts with other medication. WARNINGS * It is important to tell your doctor if you have ever had an unusual or allergic reaction to succimer or any other medication. * It is important that you drink plenty of fluids while taking succimer. * Succimer may cause your breath or urine to have a bad odor. This is a harmless effect. * This medication has been prescribed for your current condition only. Do not give this medication to other people or use it for any other purpose than that prescribed by your doctor. * Your doctor may want you to have regular blood tests to make sure that this medication is working properly. * Be sure to tell your doctor if you are pregnant or if you are breast-feeding an infant. The safe use of this medication during human pregnancy or breast-feeding has not been established. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. succimernus, pagetitle succimer 03332.TXT Copyright (C) 1993 Publications International, Ltd. sucralfate _________________________ BRAND NAME (Manufacturer) Carafate (Marion Merrell Dow) TYPE OF DRUG Antiulcer INGREDIENT sucralfate DOSAGE FORM Tablets (1 g) STORAGE Sucralfate should be stored at room temperature in a tightly closed container. Sucralfate is used for the short-term treatment of ulcers. This medication binds to the surface of the ulcer, thereby protecting it from stomach acid and promoting healing. TREATMENT In order to obtain maximum benefit from this drug, you should swallow it whole with a full glass of water. Take it on an empty stomach one hour before or two hours after a meal and at bedtime. Do not take antacids within 30 minutes before or one hour after taking sucralfate. Continue to take sucralfate for the full length of time prescribed by your doctor, even if your symptoms disappear. Your ulcer may not yet be healed. However, do not take it for more than eight weeks without your doctor's authorization. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Back pain, constipation, diarrhea, dizziness, drowsiness, dry mouth, indigestion, nausea, or stomach pain. These side effects should disappear as your body adjusts to the medication. To relieve constipation, exercise and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about itching or rash. Also, if your condition does not improve or seems to be getting worse, you should contact your doctor. INTERACTIONS 1. Sucralfate may prevent the absorption of tetracycline, digoxin, phenytoin, ranitidine, and fat-soluble vitamins (vitamins A, D, E, and K) from the gastrointestinal tract. At least one hour should separate doses of any of these medications and sucralfate. 2. Sucralfate may increase stomach absorption of ciprofloxacin and norfloxacin. At least two hours should separate doses of these medications and sucralfate. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to sucralfate. * Tell your doctor if you now have or if you have ever had kidney disease. * If sucralfate makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Be sure to tell your doctor if you are pregnant. Although sucralfate appears to be safe, extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether sucralfate passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Carafate 0333201.scf sucralfate logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials 90 my pagetitle sucralfate 03333.TXT Copyright (C) 1993 Publications International, Ltd. sulfamethoxazole and phenazopyridine combination _________________________ BRAND NAME (Manufacturer) Azo Gantanol (Roche) TYPE OF DRUG Antibiotic and urinary tract analgesic INGREDIENTS sulfamethoxazole and phenazopyridine DOSAGE FORM Tablets (500 mg sulfamethoxazole and 100 mg phenazopyridine) STORAGE Sulfamethoxazole and phenazopyridine combination tablets should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat painful infections of the urinary tract. Sulfamethoxazole acts by preventing production of the nutrients that are required for growth of the infecting bacteria. Phenazopyridine is excreted in the urine, where it exerts a topical analgesic (pain-relieving) effect on the urinary tract. This medication is not useful for any pain other than that of a urinary tract infection. TREATMENT It is best to take this medication with a full glass of water on an empty stomach, either one hour before or two hours after a meal. However, if it causes stomach upset, check with your doctor to see if you can take it with food or milk. This medication works best when the level of medicine in your blood and urine is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take the missed dose immediately; space the following dose about halfway through the regular interval between doses; and then return to your regular dosing schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing and the infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, headache, indigestion, insomnia, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Sulfamethoxazole can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. However, a sunscreen containing para-aminobenzoic acid (PABA) interferes with the antibacterial activity of this medication and should NOT be used. Phenazopyridine causes your urine to become orange-red in color. This is not harmful. However, it may stain your clothing. The urine will return to its normal color soon after the drug is discontinued. If you feel dizzy during treatment with this drug, sit or lie down for a while. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about aching joints and muscles, back pain, bloating, blood in the urine, chest pain, chills, confusion, convulsions, depression, difficult or painful urination, difficulty in breathing, difficulty in swallowing, fever, hallucinations, hives, itching, loss of coordination, pale skin, rash or peeling skin, ringing in the ears, sore throat, swelling of the front part of the neck, swollen ankles, unusual bleeding or bruising, unusual tiredness, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS This medicine interacts with other types of drugs: 1. Sulfamethoxazole can increase the blood levels of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, aspirin, methotrexate, and phenytoin, which can lead to serious side effects. 2. Methenamine can increase the side effects to the kidneys caused by sulfamethoxazole. 3. Probenecid, phenylbutazone, oxyphenbutazone, and sulfinpyrazone can increase the blood levels of sulfamethoxazole, which can lead to an increase in side effects. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to phenazopyridine, sulfamethoxazole, or any other sulfa drug (other sulfonamide antibiotics, diuretics, dapsone, sulfoxone, oral antidiabetic medications, oral antiglaucoma medication, or acetazolamide). * Tell your doctor if you now have or if you have ever had glucose-6-phosphate dehydrogenase (G6PD) deficiency, kidney disease, liver disease, or porphyria. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * This medication should be taken with plenty of water in order to avoid kidney stone formation. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Diabetic patients using this medication (phenazopyridine) may get delayed reactions or false-positive readings for sugar or ketones with urine tests. Clinitest is not affected by this medication. * If there is no improvement in your condition several days after starting this medication, check with your doctor. This medication may not be effective against the particular type of bacteria causing your infection. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant. Small amounts of sulfamethoxazole cross the placenta. Although this medication appears to be safe during pregnancy, extensive studies in humans have not been conducted. Tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. This drug should not be used in an infant less than two months of age. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. sulfamethoxazole and phenazopyridine combination wor pagetitle sulfamethoxazole and phenazopyridine combination 03334.TXT Copyright (C) 1993 Publications International, Ltd. sulfamethoxazole and trimethoprim combination _________________________ BRAND NAMES (Manufacturers) Bactrim (Roche) Bactrim DS (Roche) Bethaprim DS (Major) Cotrim (Lemmon) Cotrim DS (Lemmon) Cotrim Pediatric (Lemmon) Septra (Burroughs Wellcome) Septra DS (Burroughs Wellcome) sulfamethoxazole and trimethoprim (various manufacturers) Sulfatrim (various manufacturers) Sulfatrim DS (various manufacturers) TYPE OF DRUG Antibiotic INGREDIENTS sulfamethoxazole and trimethoprim DOSAGE FORMS Tablets (400 mg sulfamethoxazole and 80 mg trimethoprim) Double-strength (DS) tablets (800 mg sulfamethoxazole and 160 mg trimethoprim) Oral suspension (200 mg sulfamethoxazole and 40 mg trimethoprim per 5-ml spoonful) STORAGE Sulfamethoxazole and trimethoprim combination tablets and oral suspension should be stored at room temperature in tightly closed, light-resistant containers. The oral suspension does not need to be refrigerated. This medication should never be frozen. Sulfamethoxazole and trimethoprim combination is used to treat a broad range of infections, including urinary tract infections, certain respiratory and gastrointestinal infections, and otitis media (middle ear infection). Sulfamethoxazole and trimethoprim acts by preventing production of the nutrients that are required for growth of the infecting bacteria. TREATMENT It is best to take this medication with a full glass of water on an empty stomach, either one hour before or two hours after a meal. However, if it causes stomach upset, check with your doctor to see if you can take it with food or milk. The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. This medication works best when the level of medicine in your bloodstream (and urine) is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. Try not to skip any doses. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take the missed dose immediately; space the following dose about halfway through the regular interval between doses (wait about six hours if you are taking two doses a day); and then return to your regular dosing schedule. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, headache, loss of appetite, nausea, sore mouth, or vomiting. These side effects should disappear as your body adjusts to the drug. Sulfamethoxazole can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. However, a sunscreen containing para-aminobenzoic acid (PABA) interferes with the antibacterial activity of this medication and should NOT be used. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody urine, convulsions, difficult or painful urination, difficulty in breathing, difficulty in swallowing, fever, hallucinations, itching, joint pain, lower back pain, pale skin, rash, ringing in the ears, sore throat, swelling of the front part of the neck, swollen or inflamed tongue, tingling in the hands or feet, unusual bleeding or bruising, unusual fatigue, or yellowing of the eyes or skin. Also, if your infection seems to be getting worse rather than improving, contact your doctor. INTERACTIONS This medicine interacts with other types of drugs: 1. Sulfamethoxazole can increase the blood levels of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, methotrexate, aspirin, and phenytoin, which can lead to serious side effects. 2. Methenamine can increase the side effects to the kidneys caused by sulfamethoxazole. 3. Probenecid, phenylbutazone, oxyphenbutazone, and sulfinpyrazone can increase the blood levels of sulfamethoxazole, which can lead to an increase in side effects. 4. Rifampin can increase the elimination of trimethoprim from the body, decreasing its antibacterial effects. 5. Concurrent use of trimethoprim with antineoplastic agents (anticancer drugs) can increase the risk of developing blood disorders. 6. Trimethoprim can decrease the elimination of phenytoin from the body and increase the chance of side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to trimethoprim, sulfamethoxazole, or other sulfa drugs (other sulfonamide antibiotics, diuretics, dapsone, sulfoxone, oral antidiabetic medications, oral antiglaucoma medication, or acetazolamide). * Tell your doctor if you now have or if you have ever had glucose-6-phosphate dehydrogenase (G6PD) deficiency, kidney disease, liver disease, porphyria, or megaloblastic anemia (folate-deficiency anemia). * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * This medication should be taken with plenty of water in order to avoid kidney stone formation. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness. * If there is no improvement in your condition several days after starting to take this medication, check with your doctor. This medication may not be effective against the bacteria causing your infection. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Be sure to tell your doctor if you are pregnant. Small amounts of sulfamethoxazole and trimethoprim cross the placenta. Although these drugs appear to be safe during pregnancy, extensive studies in humans have not been conducted. Trimethoprim has been shown to cause birth defects in the offspring of animals that received very large doses during pregnancy. Tell your doctor if you are breast-feeding. Small amounts of sulfamethoxazole pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. Also, small amounts of trimethoprim pass into breast milk, and there is a chance that it may cause anemia in the nursing infant. This combination medication should not be used in an infant less than two months of age (to avoid side effects involving the liver). _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Bactrim 0333401.scf+! sulfamethoxazole and trimethoprim combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials $pagetitle sulfamethoxazole and trimethoprim combination 03335.TXT Copyright (C) 1993 Publications International, Ltd. sulfasalazine _________________________ BRAND NAMES (Manufacturers) Azaline (Major) Azulfidine (Pharmacia) Azulfidine EN-tabs (Pharmacia) S.A.S.-500 (Rowell) sulfasalazine (various manufacturers) TYPE OF DRUG Sulfonamide and anti-inflammatory INGREDIENT sulfasalazine DOSAGE FORMS Tablets (500 mg) Enteric-coated tablets (500 mg) Oral suspension (250 mg per 5-ml spoonful) STORAGE Store at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. This medication is used to treat inflammatory bowel disease (regional enteritis or ulcerative colitis). In the intestine, sulfasalazine is converted to 5-aminosalicylic acid, an aspirin-like drug, which acts to relieve inflammation. TREATMENT In order to avoid stomach irritation while you are being treated with this medication, you should take your doses with a full glass of water, with food, or after meals (unless your doctor directs you to do otherwise). The enteric-coated tablets should be swallowed whole. The enteric coating is added to lessen stomach irritation. Chewing, breaking, or crushing these tablets destroys the coating. The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, dizziness, drowsiness, insomnia, loss of appetite, mild headache, nausea, stomach upset, or vomiting. These should disappear as your body adjusts to the drug. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. However, a sunscreen containing para-aminobenzoic acid (PABA) interferes with this drug and should not be used. Sulfasalazine can discolor contact lenses. You may want to stop wearing them while taking this medication. Discuss this with your ophthalmologist. Sulfasalazine can cause your urine to change to an orange-yellow color. This is a harmless effect. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blood in the urine, convulsions, depression, difficulty in swallowing, difficult or painful urination, fatigue, fever, hallucinations, hearing loss, itching, joint pain, lower back pain, mouth sores, pale skin, rash or peeling skin, ringing in the ears, severe headache, sore throat, swelling of the front part of the neck, tingling sensations, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Sulfasalazine interacts with several other types of drugs: 1. It can increase the side effects of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, methotrexate, aspirin, and phenytoin. 2. The blood levels and effectiveness of digoxin and folic acid are decreased by concurrent use of sulfasalazine. 3. Probenecid, oxyphenbutazone, phenylbutazone, methenamine, and sulfinpyrazone can increase the blood levels and side effects of sulfasalazine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to sulfasalazine, aspirin or other salicylates, or any sulfa drug (diuretics, oral antidiabetic medications, sulfonamide antibiotics, oral antiglaucoma medication, acetazolamide, sulfoxone, dapsone). * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders, blockage of the urinary tract or intestine, glucose-6-phosphate dehydrogenase (G6PD) deficiency, kidney disease, liver disease, or porphyria. * To help prevent the formation of kidney stones, try to drink at least eight to 12 glasses of water or fruit juice each day while you are taking this medication (unless your doctor directs you to do otherwise). * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * If your condition does not improve within a month or two after starting to take sulfasalazine, check with your doctor. It may be necessary to change your medication. * Be sure to tell your doctor if you are pregnant. Although sulfasalazine appears to be safe during most of pregnancy, extensive studies in humans have not been conducted. There is also concern that if this drug is taken during the ninth month of pregnancy, it may cause liver or brain disorders in the infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of sulfasalazine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. sulfasalazine pagetitle sulfasalazine 03336.TXT Copyright (C) 1993 Publications International, Ltd. sulfathiazole, sulfacetamide, and sulfabenzamide combination _________________________ BRAND NAMES (Manufacturers) Sulfa-Gyn (Mayrand) Sultrin Triple Sulfa (Ortho) Triple Sulfa (vaginal) (various manufacturers) Trysul (Savage) TYPE OF DRUG Antibiotic INGREDIENTS sulfathiazole, sulfacetamide, and sulfabenzamide DOSAGE FORMS Vaginal tablets (172.5 mg sulfathiazole, 143.75 mg sulfacetamide, and 184 mg sulfabenzamide) Vaginal cream (3.42% sulfathiazole, 2.86% sulfacetamide, and 3.7% sulfabenzamide) STORAGE This medication should be stored at room temperature (never frozen) in tightly closed, light-resistant containers. Sulfathiazole, sulfacetamide, and sulfabenzamide are sulfonamide antibiotics used to treat vaginal infections. They work by blocking production of nutrients needed by the infecting bacteria, thus killing the bacteria. TREATMENT This product is packaged with instructions and an applicator. Read the instructions carefully before inserting the vaginal cream or tablets. Wash the applicator with warm water and soap, and dry it thoroughly after each use. It is important to continue to take this medication for the entire time prescribed by your doctor, even if your symptoms disappear before the end of that period. If you stop taking the medication too soon, your infection could recur. If you miss a dose of this medication, insert the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not insert the missed dose; return to the regular dosing schedule. Do not double the dose. SIDE EFFECTS Minor. This medication combination can cause a mild, temporary burning or stinging sensation after each of the first few applications. As your body adjusts to this medication combination, this side effect should disappear. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about itching, rash, redness, swelling, or any other signs of irritation that were not present before you started taking this medication. INTERACTIONS Sulfathiazole, sulfacetamide, and sulfabenzamide combination should not interact with other medications if it is used according to your doctor's directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to sulfathiazole, sulfacetamide, sulfabenzamide, or any other sulfa drug, including sulfonamide antibiotics, diuretics (water pills), oral antidiabetic medicines, oral antiglaucoma medication, dapsone, sulfone, and sulfoxone. * Before starting to take this medication, tell your doctor if you now have or if you have ever had kidney disease. * You should not use tampons while using this medication. * During intercourse, your partner should wear a condom to prevent reinfection. Ask your doctor if your partner needs to be treated at the same time as you. * This medication combination has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor directs you to do so. * If symptoms do not begin to improve within several days after starting this medication, CONTACT YOUR DOCTOR. This medication may not be effective for your infection. * If you are pregnant or breast-feeding, ASK YOUR DOCTOR if you should continue to use this medication. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. sulfathiazole, sulfacetamide, and sulfabenzamide c...ination a d pagetitle sulfathiazole, sulfacetamide, and sulfabenzamide combination 03337.TXT Copyright (C) 1993 Publications International, Ltd. sulfinpyrazone _________________________ BRAND NAMES (Manufacturers) Anturane (Ciba) sulfinpyrazone (various manufacturers) TYPE OF DRUG Antigout and antiplatelet INGREDIENT sulfinpyrazone DOSAGE FORMS Tablets (100 mg) Capsules (200 mg) STORAGE Sulfinpyrazone tablets and capsules should be stored at room temperature in tightly closed containers. Sulfinpyrazone is used to treat gout. It acts by increasing the elimination of uric acid (the chemical responsible for gout) through the kidneys. This medication is also used to prevent further heart attacks in patients who have had a recent attack by preventing the formation of certain types of blood clots. TREATMENT In order to prevent stomach irritation, you should take sulfinpyrazone with food, milk, or antacids (unless your doctor directs you to do otherwise). Sulfinpyrazone does not cure gout, but it will help to control blood levels of uric acid as long as you continue to take the medication. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Nausea, stomach upset, or vomiting. These side effects should disappear as you adjust to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about back pain; bloody or black, tarry stools; convulsions; diarrhea; difficult or painful urination; fever; sore throat; skin rash; or unusual bleeding or bruising. INTERACTIONS Sulfinpyrazone interacts with other types of medications: 1. Aspirin can increase uric acid levels, thereby decreasing the therapeutic effects of sulfinpyrazone. 2. Sulfinpyrazone can increase the side effects of sulfonamide antibiotics, oral antidiabetic medications, oral anticoagulants (blood thinners, such as warfarin), and nitrofurantoin. 3. Alcohol, pyrazinamide, and diuretics (water pills) can increase the blood levels of uric acid, thereby decreasing the effectiveness of sulfinpyrazone. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to sulfinpyrazone, oxyphenbutazone, or phenylbutazone. * Before starting to take this drug, tell your doctor if you have ever had blood disorders, kidney disease, peptic ulcers, or stomach or intestinal inflammation. * Before taking any over-the-counter (nonprescription) medication, check the label to see if it contains aspirin. Aspirin can decrease the effectiveness of sulfinpyrazone. * Sulfinpyrazone is not an analgesic (pain reliever) and does not relieve an acute gout attack. It is used to prevent future gout attacks. * In order to prevent the formation of kidney stones, try to drink at least eight to 12 glasses of water or fruit juice each day while taking this medication (unless your doctor directs you to do otherwise). * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. Treatment with sulfinpyrazone is usually discontinued several days prior to surgery, to prevent bleeding complications. * Tell your doctor if you are pregnant. Extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. sulfinpyrazoneedic pagetitle sulfinpyrazone 03338.TXT Copyright (C) 1993 Publications International, Ltd. sulfisoxazole and phenazopyridine combination _________________________ BRAND NAMES (Manufacturers) Azo Gantrisin (Roche) Azo-Sulfisoxazole (various manufacturers) TYPE OF DRUG Antibiotic and urinary tract analgesic INGREDIENTS sulfisoxazole and phenazopyridine DOSAGE FORM Tablets (500 mg sulfisoxazole and 50 mg phenazopyridine) STORAGE Sulfisoxazole and phenazopyridine combination tablets should be stored at room temperature in a tightly closed, light-resistant container. Sulfisoxazole and phenazopyridine combination is used to treat painful infections of the urinary tract. Sulfisoxazole is a sulfonamide antibiotic, which acts by preventing production of nutrients that are required for growth of infecting bacteria. Phenazopyridine is excreted in the urine, where it exerts a topical analgesic (pain-relieving) effect on the urinary tract. This medication is not useful for any pain other than that of a urinary tract infection. TREATMENT It is best to take this medication with a full glass of water on an empty stomach, either one hour before or two hours after a meal. However, if it causes stomach upset, check with your doctor to see if you can take it with food or milk. This medication works best when the level of medication in your blood and urine is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take the missed dose immediately; space the following dose about halfway through the regular interval between doses; and then return to your regular dosing schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if your symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, headache, indigestion, insomnia, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Sulfisoxazole can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. However, a sunscreen containing para-aminobenzoic acid (PABA) interferes with the antibacterial activity of this medication and should NOT be used. Phenazopyridine causes your urine to become orange-red in color. This is not harmful; however, it may stain your clothing. The urine will return to its normal color soon after the drug is discontinued. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about aching joints and muscles, back pain, bloating, blood in the urine, chest pain, chills, confusion, convulsions, depression, difficulty in breathing, difficulty in swallowing, difficult or painful urination, fever, hallucinations, hives, itching, loss of coordination, pale skin, rash or peeling skin, ringing in the ears, sore throat, swelling of the front part of the neck, swollen ankles, unusual bleeding or bruising, unusual tiredness, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS This drug interacts with several types of drugs: 1. Sulfisoxazole can increase the blood levels of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, methotrexate, aspirin, thiopental, and phenytoin, which can lead to serious side effects. 2. Methenamine can increase the side effects to the kidneys caused by sulfisoxazole. 3. Probenecid, oxyphenbutazone, phenylbutazone, and sulfinpyrazone can increase the side effects of sulfisoxazole. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about any reactions you have had to drugs, especially to phenazopyridine, sulfisoxazole, or any other sulfa drug (other sulfonamide antibiotics, diuretics, dapsone, sulfoxone, oral antidiabetic medications, oral antiglaucoma medications, or acetazolamide). * Tell your doctor if you now have or if you have ever had glucose-6-phosphate dehydrogenase (G6PD) deficiency, kidney disease, liver disease, or porphyria. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * This medication should be taken with plenty of water in order to prevent kidney stone formation. * If this drug makes you dizzy or drowsy, it is especially important that do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Diabetic patients using this medication, which contains phenazopyridine, may get delayed reactions or false-positive readings for sugar or ketones with urine tests. Clinitest is not affected by this medication, but the other urine sugar tests may be. Discuss this with your doctor or pharmacist. * If there is no improvement in your condition several days after starting to take this medication, check with your doctor. This medication may not be effective against the bacteria causing your infection. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant. Small amounts of sulfisoxazole cross the placenta. Although this medication appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of a nursing infant, resulting in diarrhea. This medication should not be used in an infant less than two months of age (in order to avoid side effects involving the liver). _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. sulfisoxazole and phenazopyridine combination pagetitle sulfisoxazole and phenazopyridine combination 03339.TXT Copyright (C) 1993 Publications International, Ltd. sulfonamide antibiotics (oral) _________________________ BRAND NAMES (Manufacturers) Gantanol (Roche) Gantrisin (Roche) Gulfasin (Major) Microsulfon (CMC) multiple sulfonamides (various manufacturers) Neotrizine (Lilly) Renoquid (Glenwood) sulfacytine (various manufacturers) sulfadiazine (various manufacturers) sulfamethizole (various manufacturers) sulfamethoxazole (various manufacturers) sulfisoxazole (various manufacturers) Terfonyl (Squibb) Thiosulfil Forte (Ayerst) Triple Sulfa (systemic) (various manufacturers) Urobak (Shionogi USA) TYPE OF DRUG Anti-infective INGREDIENTS AND DOSAGE FORMS sulfacytine (Renoquid) Tablets (250 mg) sulfadiazine (Microsulfon) Tablets (500 mg) sulfamethiazole (Proklar, Thiosulfil Forte) Tablets (250 mg and 500 mg) sulfamethoxazole (Gamazole, Gantanol, Gantanol DS, Urobak) Tablets (500 mg and 1 g) Suspension (500 mg per 5-ml spoonful) sulfisoxazole (Gantrisin, Gulfasin, Lipo-Gantrisin) Tablets (500 mg) Syrup (500 mg per 5-ml spoonful) Pediatric suspension (500 mg per 5-ml spoonful) Emulsion, long-acting (1 g per 5-ml spoonful) multiple sulfonamides (Neotrizine, Sul-Trio MM #2, Terfonyl, Triple Sulfa) Tablets (167 mg sulfadiazine, 167 mg sulfamerazine, and 167 mg sulfamethazine) Suspension (167 mg sulfadiazine, 167 mg sulfamerazine, and 167 mg sulfamethazine per 5-ml spoonful, with 2% alcohol) STORAGE Store at room temperature in the original container. Sulfonamide antibiotics are a family of related drugs that have activity against many types of bacteria. This group of medications is often used to treat urinary tract infections, as well as other infections. These medications kill the bacteria responsible for the infection. TREATMENT Sulfonamide antibiotics should be taken with a full glass of water on an empty stomach (either one hour before or two hours after a meal). Several additional glasses of water should also be taken every day (unless your doctor directs you to do otherwise). Sulfonamide antibiotics work best when the level of the medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced about six hours apart. If the liquid suspension or emulsion form of the sulfonamides has been prescribed for you, be sure to shake the bottle well. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Be sure to use specially marked droppers or spoons to accurately measure the correct amount of liquid. Household teaspoons vary in size and may not give you the correct dosage. If you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, if you are taking two doses a day, space the missed dose and the following dose five to six hours apart; if you are taking three or more doses a day, space the missed dose and the following dose two to four hours apart, or double the next dose. Then return to your regular dosing schedule. It is very important to continue to take these medications for the entire time prescribed by your doctor (usually ten days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and your infection could recur. SIDE EFFECTS Minor. Diarrhea, dizziness, headache, loss of appetite, nausea, or vomiting. As your body adjusts to the medication, these side effects should disappear. These drugs can increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses; and use an effective sunscreen, but not one that contains para-aminobenzoic acid (PABA). PABA interferes with the antibacterial activity of this medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about aching of joints and muscles; blood in the urine; difficulty in swallowing; itching; lower back pain; pain while urinating; pale skin; redness, blistering, or peeling of the skin; skin rash; sore throat and fever; swelling of the front part of the neck; unusual bleeding or bruising; unusual tiredness; or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Sulfonamides interact with several types of drugs: 1. Para-aminobenzoic acid products (sunscreens) can decrease the effectiveness of the sulfonamides. 2. The activity and side effects of anticoagulants (blood thinners, such as warfarin), oral antidiabetic medications, methotrexate, aspirin, phenytoin, and thiopental may be increased when sulfonamides are also taken. 3. Oxyphenbutazone, phenylbutazone, methenamine, probenecid, and sulfinpyrazone can increase the toxicity of the sulfonamides. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Before starting to take this medication, tell your doctor about any unusual or allergic reactions you have had to any medications, especially to sulfonamide antibiotics or other sulfa drugs, including diuretics (water pills), dapsone, sulfoxone, oral antidiabetics, and oral antiglaucoma medication. * Tell your doctor if you now have or if you have ever had glucose-6-phosphate dehydrogenase (G6PD) deficiency, liver disease, porphyria, or kidney disease. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking a sulfonamide antibiotic. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people, and you should not use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. These medications, if given to a woman late in pregnancy, can be toxic to the fetus. Also, tell your doctor if you are breast-feeding an infant. Sulfonamides can pass into breast milk and may cause side effects in a small number of nursing infants--those who have glucose-6-phosphate dehydrogenase (G6PD) deficiency. In addition, you should not give sulfonamides to an infant less than one month of age, unless your doctor specifically directs you to do so. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Gantanol,Gantrisin 0333901.scf,0333902.scf sulfonamide antibiotics (oral) logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials ny o#! &!pagetitle sulfonamide antibiotics (oral) 03340.TXT Copyright (C) 1993 Publications International, Ltd. sulindac _________________________ BRAND NAME (Manufacturer) Clinoril (Merck Sharp & Dohme) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT sulindac DOSAGE FORM Tablets (150 mg and 200 mg) STORAGE This medication should be stored in a closed container at room temperature away from heat and direct sunlight. Sulindac is used to treat the inflammation (pain, swelling, and stiffness) of certain types of arthritis, gout, bursitis, and tendinitis. Sulindac has been shown to block the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not fully understood how sulindac works. TREATMENT To decrease stomach irritation, your doctor may want you to take this medication with food or antacids. It is important to take sulindac on schedule and not to miss any doses. If you do miss a dose, take it as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you are taking sulindac to relieve arthritis, you must take it regularly, as directed by your doctor. It may take up to three weeks for you to feel the full benefits of this medication. Sulindac does not cure arthritis, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, soreness of the mouth, unusual sweating, or vomiting. As you adjust to the medication, these side effects should stop. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy or light-headed while taking this drug, sit or lie down for a while; get up slowly from a sitting or reclining position; and be careful on stairs. Also, be especially careful when driving an automobile or operating potentially dangerous equipment. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; chills; confusion; depression; difficulty in breathing; difficulty in hearing; difficult or painful urination; palpitations; ringing or buzzing in the ears; skin rash, hives, or itching; stomach pain; swelling; tightness in the chest; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; vaginal bleeding; wheezing; or yellowing of the eyes or skin. INTERACTIONS Sulindac interacts with several types of medications: 1. The combination of anticoagulants (blood thinners, such as warfarin) and sulindac can lead to an increase in bleeding complications. 2. Aspirin, salicylates, or other anti-inflammatory medications can cause an increase in stomach irritation. 3. Probenecid can increase the amount of sulindac in the bloodstream when the drugs are taken concurrently. 4. The blood-pressure-lowering effects of beta blockers may be decreased by this drug. 5. This medication may interact with diuretics (water pills) and cause an increase in the effects of the diuretic. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Be sure to tell your doctor if you have ever had unusual or allergic reactions to sulindac or any of the other chemically related medications (including aspirin and other salicylates, diclofenac, diflunisal, etodoloc, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, nabumetone, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, and tolmetin). * Be sure to tell your doctor if you have ever had asthma, bleeding problems, colitis, stomach ulcers or other stomach problems, epilepsy, heart disease, high blood pressure, kidney disease, liver disease, mental illness, or Parkinson's disease. * If sulindac makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Be sure to tell your doctor or dentist that you are taking this medication before having surgery or any other type of medical or dental treatment. * Stomach problems are more likely to occur if you take aspirin or other salicylates regularly or drink alcoholic beverages while being treated with this medication. These should be avoided (unless your doctor directs you to do otherwise). * Be sure to tell your doctor if you are pregnant. The safe use of this medication in human pregnancy has not been established. Side effects have been observed in the development of bones and organs in the offspring of animals that received sulindac during pregnancy. If taken late in pregnancy, this type of drug can also prolong labor. Also, tell your doctor if you are currently breast-feeding an infant. Small amounts of sulindac have been shown to pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Clinoril 0334001.scf sulindac logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials r inw pagetitle sulindac 03341.TXT Copyright (C) 1993 Publications International, Ltd. tamoxifen _________________________ BRAND NAME (Manufacturer) Nolvadex (ICI) TYPE OF DRUG Antiestrogen and antineoplastic (anticancer drug) INGREDIENT tamoxifen DOSAGE FORM Tablets (10 mg) STORAGE Tamoxifen should be stored at room temperature in a tightly closed, light-resistant container. This medication is used in the treatment of advanced breast cancer in postmenopausal women. Tamoxifen is a nonsteroidal antiestrogen drug. It is not yet fully understood how tamoxifen works, but it is possible that the drug acts to block estrogen from binding to the breast tissue, this action would work to inhibit further tumor growth. TREATMENT Tamoxifen can be taken either on an empty stomach or with food or a glass of milk, unless your doctor directs you to do otherwise. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Distaste for food, dizziness, headache, hot flashes, light-headedness, nausea, vaginal itching, or vomiting. These side effects should disappear as your body adjusts to the medication. It is extremely important that you continue to take this medication in spite of any nausea or vomiting that you may experience. If you vomit immediately after taking a dose, call your doctor; it may be necessary for you to repeat the dose. It is possible that you may experience an increase in bone and tumor pain when your treatment with tamoxifen is first started. The pain generally subsides rapidly but may require the temporary use of analgesics (pain relievers). Be sure to consult your doctor if you experience any unusual pain after starting tamoxifen. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, chills, depression, fever, rapid weight gain (three to five pounds within a week), rash, sore throat, unusual weakness, or vaginal bleeding or discharge. INTERACTIONS The activity and anticoagulant (blood-thinning) effects of drugs such as warfarin can be increased when they are taken at the same time as tamoxifen. Be sure to tell your doctor if you are taking an anticoagulant. WARNINGS * Be sure to tell your doctor about any unusual or allergic reactions you have had to any medications, especially to tamoxifen. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders or visual disturbances. * Before starting to take this medication, it is very important for you to tell your doctor if you are pregnant. Although there have been no studies done on the effects of this medication in pregnant women, isolated reports of problems have been documented when pregnant women have been using tamoxifen. Also be sure to tell your doctor if you are breast-feeding. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. tamoxifen pagetitle tamoxifen 03342.TXT Copyright (C) 1993 Publications International, Ltd. temazepam _________________________ BRAND NAMES (Manufacturers) Restoril (Sandoz) temazepam (various manufacturers) TYPE OF DRUG Benzodiazepine sedative/hypnotic INGREDIENT temazepam DOSAGE FORM Capsules (15 mg and 30 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Temazepam is prescribed to treat insomnia, including problems with falling asleep, waking during the night, and early morning wakefulness. It is not clear exactly how this medicine works, but it may relieve insomnia by acting as a depressant of the central nervous system (brain and spinal cord). TREATMENT This medicine should be taken 30 to 60 minutes before bedtime. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this medication with antacids, since they may retard its absorption from the gastrointestinal tract. If you are taking this medication regularly and you miss a dose, take the missed dose immediately if you remember within an hour. If more than an hour has passed, do not take the missed dose at all; just wait for the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Bitter taste in the mouth, constipation, diarrhea, dizziness, drowsiness (after a night's sleep), dry mouth, excessive salivation, fatigue, flushing, headache, heartburn, loss of appetite, nausea, nervousness, sweating, or vomiting. As your body adjusts to the medication, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, depression, difficulty in urinating, fainting, falling, fever, joint pain, hallucinations, mouth sores, nightmares, palpitations, rash, severe depression, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS Temazepam interacts with several other types of drugs: 1. To prevent oversedation, this drug should not be taken with alcohol, other sedative drugs, or central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medications, narcotics, antiseizure medications, and phenothiazine tranquilizers) or with antidepressants. 2. Temazepam may decrease the effectiveness of carbamazepine, levodopa, and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 3. Disulfiram, cimetidine, oral contraceptives (birth control pills), and isoniazid may increase the blood levels of temazepam, which can lead to toxic effects. 4. Concurrent use of rifampin may decrease the effectiveness of temazepam. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to temazepam or other benzodiazepine tranquilizers (such as alprazolam, chlordiazepoxide, clorazepate, diazepam, flurazepam, halazepam, lorazepam, oxazepam, prazepam, and triazolam). * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, epilepsy, lung disease, myasthenia gravis, porphyria, mental depression, or mental illness. * This medicine can cause drowsiness. Avoid tasks that require alertness, such as driving a car. * Temazepam has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage without first consulting your doctor. It is also important not to stop taking this drug suddenly if you have been taking it in large amounts or if you have used it for several weeks. Your doctor may want to reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects may develop. * Be sure to tell your doctor if you are pregnant. This type of medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, use of this medicine during the last six months of pregnancy may result in addiction of the fetus, leading to withdrawal side effects in the newborn. Also, use of this medicine during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the infant. Tell your doctor if you are breast-feeding. This medicine can pass into breast milk and cause unwanted side effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Restoril 0334201.scf temazepam logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle temazepam 03311.TXT Copyright (C) 1993 Publications International, Ltd. propoxyphene _________________________ BRAND NAMES (Manufacturers) Darvon (Lilly) Darvon-N (Lilly) Dolene (Lederle) propoxyphene hydrochloride (various manufacturers) TYPE OF DRUG Analgesic INGREDIENT propoxyphene DOSAGE FORMS Capsules (65 mg) Tablets (100 mg) Oral suspension (10 mg per ml) STORAGE This medication should be stored at room temperature (never frozen) in tightly closed containers. Propoxyphene is a narcotic analgesic that acts on the central nervous system (brain and spinal cord) to relieve mild to moderate pain. TREATMENT In order to avoid stomach upset, you can take propoxyphene with food or milk. The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. This medication works best if taken at the first sign of pain. Do not wait for the pain to become severe. If your doctor has prescribed this medication to be taken on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. Do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, constipation, dizziness, drowsiness, indigestion, light-headedness, nausea, nervousness, restlessness, vomiting, or weakness. As your body adjusts to the medication, these side effects should disappear. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down for a while; get up slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, convulsions, darkening of the urine, depression, difficulty in breathing, hallucinations, palpitations, ringing in the ears, skin rash, yellow stools, or yellowing of the eyes or skin. INTERACTIONS Propoxyphene can interact with several types of drugs: 1. Concurrent use of it with other central nervous system depressants (such as antihistamines, barbiturates, tranquilizers, sleeping medications, muscle relaxants, and other pain medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. Propoxyphene can increase carbamazepine blood levels, which in turn can result in greater side effects. 3. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. 4. Propoxyphene also interacts with alcohol, increasing its intoxicating effects. You should, therefore, avoid drinking alcoholic beverages while taking this medicine. TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to propoxyphene or to other narcotic analgesics (such as codeine, hydrocodone, hydromorphone, meperidine, methadone, morphine, and oxycodone). * Tell your doctor if you now have or if you have ever had acute abdominal conditions, asthma, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, emotional disorders, enlarged prostate gland, thyroid disease, or urethral stricture. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Propoxyphene has the potential for abuse and must be used with caution. Usually, you should not take it on a regular schedule for longer than ten days (unless your doctor directs you to do so). Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication or have been taking it for long periods of time, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating) when you stop taking it. Your doctor may therefore want to reduce the dosage gradually. * Be sure to tell your doctor if you are pregnant. The effects of this medication during the early stages of pregnancy have not been thoroughly studied in humans. However, regular use of propoxyphene in large doses during the later stages of pregnancy can result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. propoxyphenek an9 pagetitle propoxyphene 03312.TXT !Copyright (C) 1993 Publications International, Ltd. propranolol _________________________ BRAND NAMES (Manufacturers) Inderal (Wyeth-Ayerst) Inderal LA (Wyeth-Ayerst) propranolol (various manufacturers) TYPE OF DRUG Beta-adrenergic blocking agent INGREDIENT propranolol DOSAGE FORMS Tablets (10 mg, 20 mg, 40 mg, 60 mg, 80 mg, and 90 mg) Extended-release capsules (60 mg, 80 mg, 120 mg, and 160 mg) Oral solution (4 mg and 8 mg per ml) Oral concentrated solution (80 mg per ml) STORAGE Store at room temperature in a tightly closed, light-resistant container. The solutions should never be frozen. Propranolol is used to treat high blood pressure, angina pectoris (chest pain), and irregular heartbeats. It is also useful in preventing migraine headaches and preventing additional heart attacks in heart attack patients. Propranolol belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. These drugs work by controlling nerve impulses along certain nerve pathways. TREATMENT Propranolol can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach (depending on your doctor's instructions). Try to take the medication at the same time(s) each day. The extended-release capsules should be swallowed whole. Do not chew or crush them. Breaking the capsule releases the medication all at once--defeating the purpose of extended-release capsules. The oral solution should be measured with a specially designed 5-ml measuring spoon. The oral concentrated solution must be mixed in four ounces (1/2 cup) of water, juice, or soda before drinking. The cup should be refilled with more of the liquid, which must be drunk to ensure that the entire dose is taken. This form may also be mixed with applesauce or pudding. It is important to remember that propranolol does not cure high blood pressure, but it will help control the condition as long as you continue to take it. Try not to miss any doses of this medicine. If you do miss a dose, take the missed dose as soon as possible, unless it is within eight hours (if you are taking this medicine only once a day) or within four hours (if you are taking this medicine more than once a day) of your next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of the medication. SIDE EFFECTS Minor. Anxiety; constipation; decreased sexual ability; diarrhea; difficulty in sleeping; drowsiness; dryness of the eyes, mouth, and skin; headache; nausea; nervousness; stomach discomfort; tiredness; or weakness. These side effects should disappear as your body adjusts to the medicine. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and drink more water (unless your doctor directs you to do otherwise). If you are extra-sensitive to the cold, be sure to dress warmly during cold weather. Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. Sucking on ice chips or chewing sugarless gum helps to relieve mouth and throat dryness. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breathing difficulty or wheezing, cold hands or feet (due to decreased blood circulation to skin, fingers, and toes), confusion, depression, dizziness, hair loss, hallucinations, light-headedness, nightmares, numbness or tingling of the fingers or toes, rapid weight gain (three to five pounds within a week), reduced alertness, swelling, sore throat and fever, skin rash, or unusual bleeding or bruising. INTERACTIONS Propranolol interacts with a number of other types of medications: 1. Indomethacin, aspirin, or other salicylates lessen the blood-pressure-lowering effects of beta blockers. 2. Concurrent use of beta blockers and calcium channel blockers (diltiazem, nifedipine, or verapamil) or disopyramide can lead to heart failure or very low blood pressure. 3. Cimetidine and oral contraceptives (birth control pills) can increase the blood concentrations of propranolol, which can result in greater side effects. 4. Side effects may also be increased when beta blockers are taken with clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, reserpine, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of a beta blocker and an MAO inhibitor. 5. Barbiturates, alcohol, and rifampin can increase the breakdown of propranolol in the body, which can lead to a decrease in its effectiveness. 6. Beta blockers may antagonize (work against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 7. Beta blockers can also interact with insulin or oral antidiabetic agents, raising or lowering blood sugar levels or masking the symptoms of low blood sugar. 8. The action of beta blockers may be excessively increased if they are used with chlorpromazine, furosemide, or hydralazine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Before starting to take this medication, it is important to tell your doctor if you have ever had unusual or allergic reactions to any beta blocker (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, or timolol). * Tell your doctor if you now have or if you have ever had allergies, asthma, hay fever, eczema, slow heartbeat, bronchitis, diabetes mellitus, emphysema, heart or blood vessel disease, kidney disease, liver disease, thyroid disease, or poor circulation in the fingers or toes. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * This medicine may affect your body's response to exercise. Make sure you ask your doctor what an appropriate amount of exercise would be for you, taking into account your medical condition. * It is important that you do not stop taking this medicine without first checking with your doctor. Some conditions may become worse when the medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may want you to gradually reduce the amount of medicine you take before stopping completely. Make sure that you have enough medicine on hand to last through vacations, holidays, and weekends. * Before having surgery or any other medical or dental treatment, tell your physician or dentist that you are taking this medicine. Often, this medication will be discontinued 48 hours prior to any major surgery. * Propranolol can cause dizziness, drowsiness, light-headedness, and decreased alertness. Use caution while driving a car or operating dangerous machinery. Be especially careful when going up or down stairs. * While taking this medicine, do not use any over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, or diet preparations without first checking with your pharmacist or doctor. The combination of these medicines with a beta blocker can result in high blood pressure. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. Adequate studies have not been done in humans, but there has been some association between use of beta blockers during pregnancy and low birth weight, as well as breathing problems and slow heart rate in newborn infants. However, other reports have shown no effects in newborn infants. Also, tell your doctor if you are breast-feeding an infant. Although this medicine has not been shown to cause problems in breast-fed infants, some of the medicine may pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Inderal 10 mg,Inderal 20 mg,Inderal 40 mg,Inderal 80 mg,Inderal LA 80 mg,Inderal LA 120 mg 0331201.scf,0331202.scf,0331203.scf,0331204.scf,0331205.scf,0331206.scf propranolol logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField f&>&c& Additional Materials &pagetitle propranolol 03313.TXT `,E,Copyright (C) 1993 Publications International, Ltd. propranolol and hydrochlorothiazide combination _________________________ BRAND NAMES (Manufacturers) Inderide (Wyeth-Ayerst) Inderide LA (Wyeth-Ayerst) TYPE OF DRUG Beta-adrenergic blocking agent and diuretic INGREDIENTS propranolol and hydrochlorothiazide DOSAGE FORMS Tablets (40 mg propranolol and 25 mg hydrochlorothiazide; 80 mg propranolol and 25 mg hydrochlorothiazide) Long-acting capsules (80 mg propranolol and 50 mg hydrochlorothiazide; 120 mg propranolol and 50 mg hydrochlorothiazide; and 160 mg propranolol and 50 mg hydrochlorothiazide) STORAGE Store at room temperature in a tightly closed, light-resistant container. This drug is prescribed to treat high blood pressure. Hydrochlorothiazide is a diuretic (water pill), which reduces fluid accumulation in the body by increasing the elimination of salt and water through the kidneys. Propranolol belongs to a group of drugs known as beta-adrenergic blocking agents or, more commonly, beta blockers. They work by controlling nerve impulses along certain nerve pathways. TREATMENT This medication can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach (depending on your doctor's instructions). Try to take the medication at the same time(s) each day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. Propranolol and hydrochlorothiazide combination does not cure high blood pressure, but it will help control the condition as long as you continue to take it. SIDE EFFECTS Minor. Anxiety, constipation, cramps, decreased sexual ability, diarrhea, difficulty in sleeping, drowsiness, dizziness, dryness of the eyes and skin, headache, heartburn, loss of appetite, nervousness, stomach discomfort, restlessness, or tiredness. These side effects should disappear as your body adjusts to the medication. Hydrochlorothiazide can cause increased sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use sunscreen. If you become extra-sensitive to the cold, be sure to dress warmly during cold weather. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) unless your doctor directs you to do otherwise. Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising from a sitting or reclining position. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, cold hands and feet (due to decreased blood circulation to skin, fingers, and toes), confusion, depression, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, hair loss, hallucinations, itching, joint pain, mood changes, muscle spasms, nausea, nightmares, numbness or tingling in the fingers or toes, palpitations, rapid weight gain (three to five pounds within a week), reduced alertness, skin rash, sore throat, swelling, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS This medicine interacts with other types of drugs: 1. Indomethacin, aspirin, and other salicylates may decrease the blood-pressure-lowering effects of beta blockers. 2. Use of propranolol and calcium channel blockers (diltiazem, nifedipine, or verapamil) or disopyramide can lead to heart failure or very low blood pressure. 3. Cimetidine or oral contraceptives (birth control pills) can increase the blood levels of propranolol, which can result in greater side effects. Side effects may also be increased when propranolol is taken with clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, reserpine, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of propranolol and an MAO inhibitor. 4. Barbiturates, alcohol, and rifampin can increase the breakdown of propranolol, which can lead to a decrease in its effectiveness. 5. The action of beta blockers may be increased if they are used with chlorpromazine, furosemide, or hydralazine, which may have a negative effect. 6. Propranolol can antagonize (act against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 7. Propranolol can also interact with insulin and oral antidiabetic agents, raising or lowering blood sugar levels and masking the symptoms of low blood sugar. 8. Hydrochlorothiazide can decrease the effectiveness of oral anticoagulants (blood thinners, such as warfarin), antigout medications, and methenamine. 9. Antihypertensive medications may increase the blood-pressure-lowering effects of propranolol and hydrochlorothiazide combination, which can be dangerous. 10. Cholestyramine and colestipol can decrease the absorption of hydrochlorothiazide from the gastrointestinal tract; therefore, hydrochlorothiazide should be taken one hour before or four hours after a dose of cholestyramine or colestipol if one of these medications has also been prescribed for you. 11. Hydrochlorothiazide may increase the side effects of amphotericin B, calcium, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitoxin, lithium, quinidine, sulfonamide antibiotics, and vitamin D. TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to propranolol or any other beta blocker (such as acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, and timolol), to hydrochlorothiazide or other diuretics (such as bendroflumethiazide, benzthiazide, chlorothiazide, chlorthalidone, cyclothiazide, hydroflumethiazide methyclothiazide, metolazone, polythiazide, quinethazone, trichlormethiazide, and furosemide), or to any sulfa drug (oral antidiabetic medication and sulfonamide antibiotic). * Tell your doctor if you have ever had asthma, diabetes mellitus, heart disease, gout, kidney disease or problems with urination, liver disease, pancreatitis, systemic lupus erythematosus, thyroid disease, or poor circulation in the fingers or toes. * Hydrochlorothiazide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help prevent this problem, your doctor may have blood tests performed periodically to monitor your potassium levels. To help avoid potassium loss, take this medication with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet, however, until you discuss it with your doctor. Too much potassium may also be dangerous. * While you are taking this medication, limit your intake of alcohol, in order to prevent dizziness and light-headedness. * Do not take any over-the-counter medications for weight control or for allergy, asthma, cough, cold, or sinus problems unless you first check with your doctor. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Blood sugar levels should be monitored carefully with blood or urine tests when this medication is being taken. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * Propranolol can affect your body's response to exercise. Make sure you ask your doctor what an appropriate amount of exercise would be for you, taking into account your medical condition. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking this medicine. Often, this medication will be discontinued 48 hours prior to any major surgery. * This medication can cause dizziness, drowsiness, light-headedness, or decreased alertness. Therefore, you must exercise caution while driving a car or operating potentially dangerous machinery. * It is important that you do not stop taking this medicine unless you first check with your doctor. Some conditions worsen when this medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may therefore want you to gradually reduce the amount of medicine you take before stopping completely. Make sure that you have enough medicine on hand to last through vacations, holidays, and weekends. * A doctor does not usually prescribe a "fixed-dose" drug like this as the first choice in the treatment of high blood pressure. Usually, the patient first receives each ingredient singly. If there is an adequate response to the fixed dose contained in this product, it can then be substituted. The advantage of a combination product is increased convenience and (often) decreased cost. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. Adequate studies have not been conducted in humans, but there has been some association between beta blockers used during pregnancy and low birth weight, as well as breathing problems and slow heart rate in newborn infants. However, other reports have shown no such effects in newborn infants. Hydrochlorothiazide has been associated with jaundice, blood problems, and low potassium in the newborn. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of propranolol and hydrochlorothiazide pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Inderide 0331301.scf propranolol and hydrochlorothiazide combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField \040Y0 Additional Materials 0pagetitle propranolol and hydrochlorothiazide combination 03314.TXT Copyright (C) 1993 Publications International, Ltd. protriptyline _________________________ BRAND NAME (Manufacturer) Vivactil (Merck Sharp & Dohme) TYPE OF DRUG Tricyclic antidepressant INGREDIENT protriptyline DOSAGE FORM Tablets (5 mg and 10 mg) STORAGE Store at room temperature in a tightly closed container. Protriptyline is used to relieve the symptoms of mental depression. This medication belongs to a group of drugs referred to as the tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals necessary for the transmission of nerve impulses in the brain. This drug may also be used in the treatment of certain sleep disorders. TREATMENT This medication should be taken exactly as your doctor prescribes. You can take it with water or with food to lessen the chance of stomach irritation, unless your doctor tells you to do otherwise. If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular dosing schedule. However, if the dose you missed was a once-a-day bedtime dose, do not take that dose in the morning; check with your doctor instead. If the dose is taken in the morning, it may cause some unwanted side effects. Never double the dose. The effects of therapy with this medication may not become apparent for two or three weeks. SIDE EFFECTS Minor. Anxiety, blurred vision, constipation, cramps, diarrhea, dizziness, drowsiness, dry mouth, fatigue, headache, heartburn, insomnia, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. As your body adjusts to the medication, these side effects should disappear. This medication may increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you experience dry mouth, you should try chewing sugarless gum or sucking on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. You can accomplish this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, bleeding, chest pain, confusion, convulsions, difficulty in urinating, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, headaches, impotence, mood changes, mouth sores, nervousness, nightmares, nosebleeds, numbness in the fingers or toes, palpitations, ringing in the ears, seizures, skin rash, sleep disorders, sore throat, tremors, uncoordinated movements or balance problems, or yellowing of the eyes or skin. INTERACTIONS Protriptyline interacts with a number of other types of medications: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants (medicines that slow the activity of the brain and spinal cord), including alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications, or with other tricyclic antidepressants. 2. Protriptyline may decrease the effectiveness of antiseizure medications and may block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Oral contraceptives (birth control pills) or estrogen-containing drugs can increase the side effects and reduce the effectiveness of tricyclic antidepressants (including protriptyline). 4. Tricyclic antidepressants may increase the side effects of thyroid medication and over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, and diet medications. 5. The concurrent use of tricyclic antidepressants and monoamine oxidase (MAO) inhibitors should be undertaken very carefully, because the combination may result in fever, convulsions, or high blood pressure. Before starting to take protriptyline, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to any medications, especially to protriptyline or other tricyclic antidepressants (such as amitriptyline, imipramine, doxepin, trimipramine, amoxapine, desipramine, maprotiline, and nortriptyline). * Tell your doctor if you have a history of alcoholism or if you have ever had asthma, high blood pressure, liver or kidney disease, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Do not stop taking this drug suddenly. Stopping abruptly can cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The effects of this medication may last as long as seven days after you have stopped taking it, so continue to observe all precautions during that period. * Be sure to tell your doctor if you are pregnant. The safe use of this medication in human pregnancy has not been established. Side effects have been observed in the fetuses of animals that received this type of medication in large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug can pass into breast milk and may cause unwanted effects, such as irritability or sleeping problems. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. protriptyline pagetitle protriptyline 03315.TXT Copyright (C) 1993 Publications International, Ltd. pseudoephedrine and azatadine combination _________________________ BRAND NAME (Manufacturer) Trinalin Repetabs (Schering) TYPE OF DRUG Adrenergic (decongestant) and antihistamine INGREDIENTS pseudoephedrine and azatadine DOSAGE FORM Sustained-release tablets (120 mg pseudoephedrine and 1 mg azatadine) STORAGE Pseudoephedrine and azatadine combination tablets should be stored at room temperature in a tightly closed container. Pseudoephedrine and azatadine combination medication is used to relieve the symptoms of upper respiratory tract infections, hay fever and other allergies, and sinusitis (inflammation of the sinuses). Pseudoephedrine belongs to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages to reduce swelling and congestion. Azatadine belongs to a group of drugs known as antihistamines, which block the action of histamine, a chemical released by the body during an allergic reaction. It is, therefore, used to relieve or prevent symptoms of allergy. TREATMENT In order to avoid stomach upset, you can take pseudoephedrine and azatadine combination with food or with a full glass of milk or water unless otherwise directed. The sustained-release tablets should be swallowed whole. Breaking, chewing, or crushing these tablets destroys their sustained-release activity and may increase the side effects. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Anxiety; blurred vision; constipation; diarrhea; dizziness; drowsiness; dry mouth, nose, and throat; heartburn; insomnia; irritability; loss of appetite; nasal congestion; nausea; restlessness; decreased sweating; vomiting; or weakness. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. In order to avoid difficulty in falling asleep, take this medication several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. TELL YOUR DOCTOR about chest pain, confusion, convulsions, difficult or painful urination, difficulty in breathing, fainting, hallucinations, headaches, loss of coordination, mood changes, nosebleeds, palpitations, rash, severe abdominal pain, sore throat, or unusual bleeding or bruising. INTERACTIONS Pseudoephedrine and azatadine combination can interact with several other types of medications: 1. Concurrent use of this medication with central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers, or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine) and tricyclic antidepressants can increase the side effects of this drug. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The action of oral anticoagulants (blood thinners) may be decreased by the antihistamine component of this drug. 4. Procarbazine may interact with the antihistamine component of this drug. 5. The side effects of the antihistamine component of this medication may be increased by quinidine, procainamide, haloperidol, and phenothiazine tranquilizers. 6. The side effects of the decongestant component of this drug may be increased by digoxin or over-the-counter asthma, allergy, cough, cold, diet, or sinus preparations. 7. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to azatadine or other antihistamines (such as brompheniramine, carbinoxamine, chlorpheniramine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine) or to pseudoephedrine or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, phenylpropanolamine, and terbutaline). * Be sure to tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, glaucoma, heart or blood vessel disease, hiatal hernia, high blood pressure, myasthenia gravis, obstructed bladder or intestinal tract, peptic ulcers, enlarged prostate gland, or thyroid disease. * This drug can reduce sweating and heat release from the body. Be sure to avoid excessive work and exercise in hot weather, and do not take hot baths, showers, and saunas. * This medication can cause drowsiness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, be sure to tell your doctor if you are currently breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Trinalin Repetabs 0331501.scfu pseudoephedrine and azatadine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials g pra pagetitle pseudoephedrine and azatadine combination 03316.TXT Copyright (C) 1993 Publications International, Ltd. pseudoephedrine and carbinoxamine combination _________________________ BRAND NAMES (Manufacturers) Carbodec (Rugby) Cardec-S (various manufacturers) Rondec (Ross) TYPE OF DRUG Adrenemine INGREDIENTS pseudoephedrine and carbinoxamine DOSAGE FORMS Tablets (60 mg pseudoephedrine and 4 mg carbinoxamine) Oral syrup (60 mg pseudoephedrine and 4 mg carbinoxamine per 5-ml spoonful) Oral drops (25 mg pseudoephedrine and 2 mg carbinoxamine per ml) STORAGE Pseudoephedrine and carbinoxamine combination tablets, oral syrup, and oral drops should be stored at room temperature in tightly closed containers. No form of this medication should ever be frozen. This drug combination is used to relieve symptoms of upper respiratory tract infections, hay fever and other allergies, and sinusitis (inflammation of the sinuses). Pseudoephedrine belongs to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages to reduce swelling and congestion. Carbinoxamine belongs to a group of drugs known as antihistamines, which block the actions of histamine, a chemical released by the body during an allergic reaction. It is, therefore, used to relieve or prevent symptoms of allergy. TREATMENT In order to avoid stomach upset, you can take pseudoephedrine and carbinoxamine combination with food or with a full glass of water (unless your doctor directs you to do otherwise). The oral drops should be measured carefully with the dropper provided. The oral syrup form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Anxiety; blurred vision; constipation; diarrhea; dizziness; drowsiness; dry mouth, nose, and throat; heartburn; insomnia; irritability; loss of appetite; nasal congestion; nausea; restlessness; decreased sweating; vomiting; or weakness. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. In order to avoid difficulty in falling asleep, take the last dose of this medication several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, convulsions, difficult or painful urination, difficulty in breathing, fainting, hallucinations, headaches, loss of coordination, mood changes, nosebleeds, palpitations, rash, severe abdominal pain, sore throat, or unusual bleeding or bruising. INTERACTIONS Pseudoephedrine and carbinoxamine combination interacts with several other types of medications: 1. Concurrent use of it with central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers, or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine) and tricyclic antidepressants can increase the side effects of this drug. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The action of oral anticoagulants may be decreased by the antihistamine component of this drug. 4. Procarbazine may interact with the antihistamine component of this drug. 5. The side effects of the antihistamine component of this medication may be increased by quinidine, procainamide, haloperidol, and phenothiazine tranquilizers. 6. The side effects of the decongestant component of this drug may be increased by digoxin or over-the-counter asthma, allergy, cough, cold, diet, or sinus preparations. 7. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to carbinoxamine or other antihistamines (such as azatadine, chlorpheniramine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine) or to pseudoephedrine or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, phenylpropanolamine, and terbutaline). * Tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, glaucoma, heart or blood vessel disease, hiatal hernia, high blood pressure, myasthenia gravis, obstructed bladder or intestinal tract, peptic ulcers, enlarged prostate gland, or thyroid disease. * Because this drug can reduce sweating and heat release from the body, you should avoid excessive work and exercise in hot weather, and do not take hot baths, showers, and saunas. * This medication can cause drowsiness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, be taken. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Rondec 0331601.scf pseudoephedrine and carbinoxamine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle pseudoephedrine and carbinoxamine combination 03317.TXT !Copyright (C) 1993 Publications International, Ltd. pseudoephedrine and chlorpheniramine combination _________________________ BRAND NAMES (Manufacturers) Anamine T.D. (Mayrand) Brexin L.A. (Savage) Chlorafed (Half-Strength) (Hauck) Chlorafed HS Timecelles (Hauck) Chlor-Trimeton Decongestant [*] (Schering) Chlor-Trimeton Decongestant Repetabs [*] (Schering) Codimal-L.A. (Central) Dallergy-D [*] (Laser) Deconamine (Berlex) Deconamine SR (Berlex) Dorcol Children's Liquid Cold Formula [*] (Sandoz) Duralex (American Urologicals) Fedahist [*] (Kremers Urban) Histalet (Reid-Rowell) Isoclor (Fisons) Isoclor Timesules [*] (Fisons) Kronofed-A Jr. (Ferndale) Kronofed-A Kronocaps (Ferndale) Myfedrine Plus [*] (P.B.I.) Napril [*] (Randob) ND Clear T.D. (Seatrace) Novafed A (Lakeside) PediaCare 2 Liquid (McNeil Consumer) Pseudo-Hist [*] (Abana) Ryna [*] (Wallace) Sudafed Plus [*] (Burroughs Wellcome) T-Dry Jr (T.E. Williams) * Available over-the-counter (without a prescription) TYPE OF DRUG Adrenergic (decongestant) and antihistamine INGREDIENTS Pseudoephedrine and chlorpheniramine DOSAGE FORMS Tablets (30 mg pseudoephedrine and 4 mg chlorpheniramine; 60 mg pseudoephedrine and 4 mg chlorpheniramine) Capsules (30 mg pseudoephedrine and 4 mg chlorpheniramine; 30 mg pseudoephedrine and 2 mg chlorpheniramine) Sustained-release capsules (60 mg pseudoephedrine and 4 mg chlorpheniramine; 65 mg pseudoephedrine and 10 mg chlorpheniramine; 120 mg pseudoephedrine and 8 mg chlorpheniramine; and 120 mg pseudoephedrine and 12 mg chlorpheniramine) Oral elixir (30 mg pseudoephedrine and 2 mg chlorpheniramine per 5-ml spoonful, with 5% alcohol) Oral syrup (15 mg pseudoephedrine and 1 mg chlorpheniramine; 15 mg pseudoephedrine and 2 mg chlorpheniramine; 30 mg pseudoephedrine and 2 mg chlorpheniramine; and 45 mg pseudoephedrine and 3 mg chlorpheniramine per 5-ml spoonful) STORAGE Pseudoephedrine and chlorpheniramine combination tablets, capsules, elixir, and syrup should be stored at room temperature in tightly closed containers. This medication should never be frozen. This drug combination is used to relieve the symptoms of upper respiratory tract infections, hay fever and other allergies, and sinusitis (inflammation of the sinuses). Pseudoephedrine belongs to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages to reduce swelling and congestion. Chlorpheniramine belongs to a group of drugs known as antihistamines, which block the actions of histamine, a chemical released by the body during an allergic reaction. It is, therefore, used to relieve or prevent symptoms of allergy. TREATMENT In order to avoid stomach upset, you can take pseudoephedrine and chlorpheniramine combination with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The oral syrup and elixir forms of this drug should be measured with a specially designed 5-ml measuring spoon. The sustained-release capsules should be swallowed whole. Breaking, chewing, or crushing these capsules destroys their sustained-release activity and may increase the side effects. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Anxiety; blurred vision; constipation; diarrhea; dizziness; drowsiness; dry mouth, nose, and throat; heartburn; insomnia; irritability; loss of appetite; nasal congestion; nausea; restlessness; decreased sweating; vomiting; or weakness. These side effects should gradually disappear as your body adjusts to this medication. This medication can increase your sensitivity to sunlight. You should therefore avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position. In order to avoid difficulty in falling asleep, take the last dose of this drug several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, convulsions, difficult or painful urination, difficulty in breathing, fainting, hallucinations, headaches, loss of coordination, mood changes, palpitations, rash, severe abdominal pain, sore throat, or unusual bleeding or bruising. INTERACTIONS Pseudoephedrine and chlorpheniramine combination interacts with several other types of medications: 1. Concurrent use of this medication with central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers, or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine) and tricyclic antidepressants can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The action of oral anticoagulants may be decreased by the antihistamine component of this drug. 4. Procarbazine may interact with the antihistamine component of this drug. 5. The side effects of the antihistamine component of this medication may be increased by quinidine, procainamide, haloperidol, or phenothiazine tranquilizers. 6. The side effects of the decongestant component may be increased by digoxin or over-the-counter (nonprescription) asthma, allergy, cough, cold, diet, or sinus preparations. 7. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to chlorpheniramine or to other antihistamines (such as azatadine, brompheniramine, carbinoxamine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine) or to pseudoephedrine or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, phenylpropanolamine, and terbutaline). * Tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, glaucoma, heart or blood vessel disease, hiatal hernia, high blood pressure, myasthenia gravis, obstructed bladder or intestinal tract, peptic ulcers, enlarged prostate gland, or thyroid disease. * Because this drug can reduce sweating and heat release from the body, you should avoid excessive work or exercise in hot weather, and do not take hot baths, showers, and saunas. * Pseudoephedrine and chlorpheniramine combination can cause drowsiness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Deconamine SR 0331701.scf pseudoephedrine and chlorpheniramine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials &pagetitle pseudoephedrine and chlorpheniramine combination 03318.TXT Copyright (C) 1993 Publications International, Ltd. pseudoephedrine, carbinoxamine, and dextromethorphan combination _________________________ BRAND NAMES (Manufacturers) Carbodec DM (Rugby) Cardec DM (various manufacturers) Mycadec DM (My-K Labs) Pseudo-Car DM (Geneva Generics) Rondec-DM (Ross) Tussafed (Everett) TYPE OF DRUG Adrenergic (decongestant), antihistamine, and cough suppressant INGREDIENTS pseudoephedrine, carbinoxamine, and dextromethorphan DOSAGE FORMS Oral syrup (60 mg pseudoephedrine, 4 mg carbinoxamine, and 15 mg dextromethorphan per 5-ml spoonful) Oral drops (25 mg pseudoephedrine, 2 mg carbinoxamine, and 4 mg dextromethorphan per 1-ml dropperful) STORAGE Pseudoephedrine, carbinoxamine, and dextromethorphan combination oral syrup and oral drops should be stored at room temperature in a tightly closed, light-resistant glass container. Avoid exposing these medications to excessive heat. This drug combination is used to relieve coughs and the symptoms of upper respiratory tract infections, hay fever and other allergies, and sinusitis (inflammation of the sinuses). Pseudoephedrine belongs to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages to reduce swelling and congestion. Carbinoxamine belongs to a group of drugs known as antihistamines, which block the actions of histamine, a chemical released by the body during an allergic reaction. It is, therefore, used to relieve or prevent symptoms of allergy. Dextromethorphan is a cough suppressant, which acts at the cough reflex center in the brain. TREATMENT In order to avoid stomach upset, you can take this medicine with food or with a full glass of water (unless your doctor directs you to do otherwise). The oral drops should be measured carefully with the dropper provided. The oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, blurred vision, decreased sweating, diarrhea, dizziness, drowsiness, dry mouth, headache, heartburn, loss of appetite, nausea, nervousness, sleeping problems, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. Chew sugarless gum or suck on ice chips or hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. In order to avoid difficulty in falling asleep, you should take the last dose of this medication several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome, especially chest pain, difficult or painful urination, difficulty in breathing, hallucinations, pallor, palpitations, seizures, or tremors. INTERACTIONS This medication can interact with several types of drugs: 1. Concurrent use of it with central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers, or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine), beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, or timolol), and tricyclic antidepressants can increase the side effects of this drug. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The side effects of the antihistamine part of this medication may be increased by quinidine, procainamide, haloperidol, and phenothiazine tranquilizers. 4. The side effects of the decongestant component may be increased by digoxin or over-the-counter (nonprescription) asthma, allergy, cough, cold, diet, or sinus preparations. 5. The blood-pressure-lowering effects of guanethidine, methyldopa, and reserpine may be decreased by this drug. Before starting pseudoephedrine, carbinoxamine, and dextromethorphan combination, TELL YOUR DOCTOR about any medications you are curently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to carbinoxamine or other antihistamines (such as azatadine, chlorpheniramine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine), to pseudoephedrine or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, phenylpropanolamine, and terbutaline), or to dextromethorphan. * Tell your doctor if you have ever had diabetes mellitus, glaucoma, heart or blood vessel disease, high blood pressure, myasthenia gravis, obstructed bladder or intestinal tract, peptic ulcers, enlarged prostate, or thyroid disease. * Because this drug can reduce sweating and heat release from the body, avoid excessive work and exercise in hot weather, and do not take hot baths, showers, and saunas. * This medication can cause drowsiness. Your ability to perform tasks that require alertness. * Tell your doctor if you are pregnant. The safe use of this drug in human pregnancy has not been established. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pseudoephedrine, carbinoxamine, and dextromethor...n combinationARNIM pagetitle pseudoephedrine, carbinoxamine, and dextromethorphan combination 03319.TXT Copyright (C) 1993 Publications International, Ltd. pseudoephedrine, triprolidine, and codeine combination _________________________ BRAND NAMES (Manufacturers) Actagen-C Cough Syrup (Goldline) Actifed with Codeine (Burroughs Wellcome) Allerfrin with Codeine (Rugby) Triacin-C (various manufacturers) Trifed-C (Geneva Generics) TYPE OF DRUG Adrenergic (decongestant), antihistamine, and cough suppressant INGREDIENTS pseudoephedrine, triprolidine, and codeine DOSAGE FORM Oral syrup (30 mg pseudoephedrine, 1.25 mg triprolidine, and 10 mg codeine per 5-ml spoonful, with 4.3% alcohol) STORAGE This medication should be stored at room temperature (never frozen) in a tightly closed container. It is used to provide symptomatic relief of coughs due to colds, minor upper respiratory infections, and allergy. Pseudoephedrine belongs to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages, thereby reducing swelling and congestion. Triprolidine belongs to a group of drugs known as antihistamines, which block the action of histamine, a chemical released by the body during an allergic reaction. It is used to relieve or prevent symptoms of allergy. Codeine is a narcotic cough suppressant, which acts at the cough reflex center in the brain. TREATMENT To avoid stomach upset, you can take this medication with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision; constipation; diarrhea; dizziness; dry mouth, throat, or nose; irritability; loss of appetite; nausea; restlessness; stomach upset; unusual increase in sweating; or vomiting. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, difficult or painful urination, feeling faint, headaches, palpitations, rash, ringing or buzzing in the ears, severe abdominal pain, sore throat, or unusual bleeding or bruising. INTERACTIONS This medicine interacts with several other types of drugs: 1. Concurrent use of it with other central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers, or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine) and tricyclic antidepressants can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The action of oral anticoagulants may be decreased by the antihistamine component of this drug. 4. Procarbazine may interact with the antihistamine component of this drug. 5. The side effects of the antihistamine component of this medication may be increased by quinidine, procainamide, haloperidol, or phenothiazine tranquilizers. 6. The blood-pressure-lowering effects of guanethidine, methyldopa, and reserpine may be decreased by this medication. 7. The side effects of the decongestant component of this medication may be increased by digoxin or over-the-counter (nonprescription) allergy, asthma, cough, cold, diet, or sinus preparations. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to triprolidine or other antihistamines (such as azatadine, brompheniramine, carbinoxamine, clemastine, cyproheptadine, chlorpheniramine, dexbrompheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, and tripelennamine), to pseudoephedrine or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, phenylephrine, phenylpropanolamine, and terbutaline), or to codeine or any other narcotic cough suppressant or pain medication. * Tell your doctor if you now have or if you have ever had asthma, brain disease, blockage of the urinary or digestive tract, diabetes mellitus, colitis, gallbladder disease, glaucoma, heart or blood vessel disease, high blood pressure, kidney disease, liver disease, lung disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * This medicine can cause drowsiness. Exercise caution while performing tasks that require alertness, such as driving a car or operating potentially dangerous machinery. * While you are taking this medication, drink at least eight glasses of water a day to help loosen bronchial secretions. * Because this product contains codeine, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication, or if you have been taking it for long periods of time, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating) when you stop taking it. Your doctor may, therefore, want to reduce the dosage gradually. * Before surgery or other medical or dental treatment, it is very important to tell your doctor or dentist you are taking this drug. * Tell your doctor if you are pregnant. The effects of this drug during the early stages of pregnancy have not been thoroughly studied in humans. However, the regular use of codeine during the later stages of pregnancy may lead to addiction of the fetus, resulting in withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) in the newborn. Also, tell your doctor if you are breast-feeding. Small amounts of this drug pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pseudoephedrine, triprolidine, and codeine combinationsine pagetitle pseudoephedrine, triprolidine, and codeine combination 03320.TXT Copyright (C) 1993 Publications International, Ltd. quinidine _________________________ BRAND NAMES (Manufacturers) Cardioquin (Purdue Frederick) Cin-Quin (Reid-Rowell) Duraquin (Parke-Davis) Quinaglute Dura-Tabs (Berlex) Quinatime (CMC) Quinidex Extentabs (Robins) quinidine gluconate (various manufacturers) quinidine sulfate (various manufacturers) Quinora (Key) Quin-Release (Major) TYPE OF DRUG Antiarrhythmic INGREDIENT quinidine DOSAGE FORMS Tablets (100 mg, 200 mg, 275 mg, and 300 mg) Sustained-release tablets (300 mg, 324 mg, and 330 mg) Capsules (200 mg and 300 mg) STORAGE Quinidine tablets and capsules should be stored at room temperature in tightly closed, light-resistant containers. Quinidine is used to treat heart arrhythmias. It corrects irregular heartbeats and helps to achieve a more normal rhythm. TREATMENT To increase absorption of the drug, take quinidine on an empty stomach with a full glass of water one hour before or two hours after a meal. To lessen stomach upset, ask your doctor if you can take it with food or milk. Take it at the same time(s) each day. Quinidine works best when the amount in your bloodstream is kept constant. This medication should, therefore, be taken at evenly spaced intervals day and night. For example, if you take quinidine four times per day, the doses should be six hours apart. The sustained-release tablets should be swallowed whole. If you miss a dose of this medication and remember within two hours, take the missed dose immediately and then return to your regular dosing schedule. If more than two hours have passed (four hours for the sustained-release tablets), do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, bitter taste in mouth, confusion, cramping, diarrhea, flushing, headache, loss of appetite, nausea, restlessness, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, difficulty in breathing, dizziness, fainting, fever, headache, light-headedness, palpitations, rash, ringing in the ears, sore throat, or unusual bleeding or bruising. INTERACTIONS Quinidine interacts with several foods and medications: 1. It can increase the effects of warfarin, which can lead to bleeding complications. 2. Acetazolamide, cimetidine, thiazide diuretics (water pills), sodium bicarbonate, antacids, and citrus fruit juices can increase the blood levels and thus the possibility of side effects of quinidine. 3. Nifedipine, phenobarbital, phenytoin, and rifampin can decrease blood levels of quinidine. 4. The combination of quinidine and phenothiazine tranquilizers, reserpine, nifedipine, amiodarone, or other antiarrhythmic agents can lead to cardiac side effects that can be very harmful. 5. Quinidine can increase blood levels of digoxin, leading to serious side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs, especially to quinidine or quinine. * Before starting to take this medication, be sure to tell your doctor if you have ever had heart block, hypokalemia (low blood levels of potassium), kidney disease, liver disease, lung disease, myasthenia gravis, psoriasis, or thyroid disease. * Although many quinidine products are on the market, they are not all bioequivalent; that is, they may not all be absorbed into the bloodstream at the same rate or have the same overall pharmacologic activity. Do not change brands of this drug without consulting your doctor or pharmacist. * Do not take any over-the-counter (nonprescription) products for asthma, allergy, sinus, cough, cold, or weight reduction unless you first check with your doctor or pharmacist. * If this drug makes you dizzy or light-headed, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are currently taking this medication. * Do not stop taking this drug without first consulting your doctor. Stopping quinidine abruptly may cause a serious change in the activity of your heart. Your doctor may, therefore, want to reduce your dosage gradually. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe, extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of quinidine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. quinidine pagetitle quinidine 03321.TXT Copyright (C) 1993 Publications International, Ltd. ranitidine _________________________ BRAND NAMES (Manufacturers) Zantac (Glaxo) Zantac (Roche) TYPE OF DRUG Gastric acid secretion inhibitor (decreases stomach acid) INGREDIENT ranitidine DOSAGE FORMS Tablets (150 mg and 300 mg) Oral syrup (15 mg per ml) STORAGE Ranitidine should be stored at room temperature in a tightly closed, light-resistant container. Ranitidine is used to treat duodenal and gastric ulcers. It is also used in the long-term treatment of excessive stomach acid secretion, in the prevention of recurrent ulcers, and in the treatment of reflex esophagitis (inflammation of the esophagus). Ranitidine works by blocking the effects of histamine on the stomach, thereby reducing stomach acid secretion. TREATMENT You can take ranitidine either on an empty stomach or with food or milk. Antacids can block the absorption of ranitidine. If you are taking antacids as well as ranitidine, at least one hour should separate doses of the two medications. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, headache, nausea, or stomach upset. These side effects should disappear as your body adjusts to the medication. To relieve constipation, exercise and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy while taking this medication, sit or lie down for a while. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, decreased sexual ability, unusual bleeding or bruising, or weakness. INTERACTIONS Ranitidine can interact with other types of medications: 1. Ranitidine may increase the blood-sugar-lowering effects of glipizide. 2. Ranitidine can decrease the elimination of warfarin from the body, which can increase the risk of bleeding complications. 3. Ranitidine can increase blood levels of procainamide. 4. Ranitidine may cause a false positive result with the Multistix urine protein test. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to ranitidine. * Tell your doctor if you now have or if you have ever had kidney or liver disease. * Ranitidine should be taken continuously for as long as your doctor prescribes. Stopping therapy early may be a cause of ineffective therapy. * Cigarette smoking may block the beneficial effects of ranitidine. * If this drug makes you dizzy, do not take part in any activity that requires alertness. * Be sure to tell your doctor if you are pregnant. Ranitidine appears to be safe during pregnancy; however, extensive testing has not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of ranitidine pass into breast mlk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Zantac 0332101.scf ranitidine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials l trW pagetitle ranitidine 03322.TXT Copyright (C) 1993 Publications International, Ltd. reserpine _________________________ BRAND NAMES (Manufacturers) reserpine (various manufacturers) Serpalan (Lannett) Serpasil (Ciba) TYPE OF DRUG Antihypertensive INGREDIENT reserpine DOSAGE FORM Tablets (0.1 mg, 0.25 mg, and 1 mg) STORAGE Reserpine tablets should be stored at room temperature in tightly closed, light-resistant containers. Reserpine is used to treat high blood pressure. It works by depleting certain chemicals from the nervous system that are responsible for maintaining high blood pressure. TREATMENT To avoid stomach irritation, you can take reserpine with food or with a full glass of water or milk (unless your doctor directs otherwise). Try to take reserpine at the same time(s) each day, to become accustomed to taking it. Reserpine does not cure hypertension, but it will help to control the condition as long as you continue to take it. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. Do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, constipation, diarrhea, dizziness, dry mouth, headache, impotence, loss of appetite, nasal congestion, nausea, nosebleeds, vomiting, or weight gain. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety; black, tarry stools; chest pain; decrease in sexual desire; depression; difficulty in urinating; drowsiness; enlarged breasts (in both sexes); fainting; fatigue; flushing of the skin; hearing loss; itching; muscle aches; nervousness; nightmares; palpitations; pinpoint pupils of eyes; rapid weight gain (three to five pounds within a week); rash; severe dizziness; shortness of breath; tremors; unusual bleeding or bruising; or weakness. INTERACTIONS Reserpine interacts with several other types of medications: 1. Concurrent use of reserpine with central nervous system depressants, such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications, or with tricyclic antidepressants can cause extreme drowsiness. 2. Reserpine can increase the side effects of digoxin, beta blockers, and quinidine and can decrease the effectiveness of levodopa. 3. Methotrimeprazine can increase the blood-pressure-lowering effects of reserpine, which can be dangerous. 4. Tricyclic antidepressants can decrease the blood-pressure-lowering effects of reserpine. 5. Concurrent use of reserpine and monoamine oxidase (MAO) inhibitors can lead to severe side effects. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. Before starting reserpine, TELL YOUR DOCTOR about any drugs you are taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to reserpine or to any rauwolfia alkaloids. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had arrhythmias, epilepsy, gallstones or gallbladder disease, heart disease, kidney disease, lung disease, mental depression, Parkinson's disease, peptic ulcers, pheochromocytoma, or ulcerative colitis. * Reserpine should not be used within two weeks of electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental procedure, tell your doctor or dentist you are taking this drug. * Before taking any over-the-counter (nonprescription) cough, cold, sinus, asthma, allergy, or diet medications, consult your doctor or pharmacist. Some of these products may increase your blood pressure. * Be sure to tell your doctor if you are pregnant. Reserpine has been reported to cause birth defects in infants whose mothers received the drug during pregnancy. Also, tell your doctor if you are breast-feeding. Reserpine can pass into breast milk and cause side effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. reserpine pagetitle reserpine 03323.TXT Copyright (C) 1993 Publications International, Ltd. rifampin _________________________ BRAND NAMES (Manufacturers) Rifadin (Marion Merrell Dow) Rimactane (Ciba) TYPE OF DRUG Antibiotic INGREDIENT rifampin DOSAGE FORM Capsules (150 mg and 300 mg) STORAGE Rifampin should be stored at room temperature in a tightly closed, light-resistant container. Rifampin is an antibiotic that is used to treat tuberculosis and to prevent meningococcal meningitis. Rifampin works by preventing the growth and multiplication of susceptible bacteria. Rifampin, however, is not effective against viruses, parasites, or fungi. TREATMENT Rifampin should be taken with a full glass of water on an empty stomach one hour before or two hours after a meal. If this medication causes stomach irritation, however, check with your doctor to see if you can take it with food. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Continue to take this medication for the entire time prescribed by your doctor (which may be months to years), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria will continue to grow, and your infection could recur. SIDE EFFECTS Minor. Diarrhea, dizziness, drowsiness, gas, headache, heartburn, loss of appetite, nausea, stomach irritation, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, difficult or painful urination, fatigue, fever, flushing, itching, muscle weakness, numbness, skin rash, uncoordinated movements, visual disturbances, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be worsening rather than improving, tell your doctor. INTERACTIONS Rifampin interacts with several other types of medications: 1. Concurrent use with paminosalicylic acid may decrease the blood levels and effectiveness of rifampin. 2. Rifampin can decrease the blood levels and effectiveness of metoprolol, propranolol, verapamil, aminophylline, theophylline, oxtriphylline, quinidine, adrenocorticosteroids (cortisone-like medicines), progestins, clofibrate, methadone, oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic medicines, barbiturates, benzodiazepine tranquilizers, dapsone, digitoxin, and trimethoprim. 3. Concurrent use of rifampin with alcohol or isoniazid can lead to an increased risk of liver damage. 4. Rifampin may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should use a different or additional form of birth control while taking rifampin. Discuss this with your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to rifampin. * Before starting to take this medication, be sure to tell your doctor if you have a history of alcoholism or liver disease. * Rifampin has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Rifampin can cause reddish-orange to reddish-brown discoloration of your urine, feces, saliva, sputum, sweat, and tears. This is a harmless effect. The drug may also permanently discolor soft contact lenses. You might want to stop wearing them while you are taking this medication. Discuss this with your ophthalmologist. * Do not stop taking this medication unless you first check with your doctor. Stopping the drug and restarting it at a later time can lead to an increase in side effects. * Be sure to tell your doctor if you are pregnant. Although rifampin appears to be safe in humans, birth defects have been reported in the offspring of animals that received large doses of the drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of rifampin pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. rifampinem..u pagetitle rifampin 03324.TXT Copyright (C) 1993 Publications International, Ltd. ritodrine _________________________ BRAND NAME (Manufacturer) Yutopar (Astra) TYPE OF DRUG Beta-adrenergic receptor agonist (labor inhibitor) INGREDIENT ritodrine DOSAGE FORM Tablets (10 mg) STORAGE Ritodrine should be stored at room temperature in a tightly closed container. Ritodrine is used to prevent premature labor. It belongs to a group of drugs called beta-adrenergic nerve receptor stimulants. It prevents premature labor by relaxing uterine muscle, thus decreasing the strength and frequency of uterine contractions. TREATMENT Ritodrine treatment is usually begun intravenously. Once the contractions stop, the medication is generally continued orally (in tablet form). Ritodrine tablets can be taken either on an empty stomach or with food or milk (as directed by your doctor). BE SURE YOU UNDERSTAND YOUR DOCTOR'S INSTRUCTIONS on how this medication should be taken. It is important to try not to miss any doses of this medication. If you do miss a dose and remember within an hour, take the missed dose immediately. If more than an hour has passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of the medication. SIDE EFFECTS Minor. Nausea or jitteriness. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about palpitations, shortness of breath, skin rash, tremors, or vomiting. INTERACTIONS This medication interacts with a number of other types of medications: 1. Beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, timolol) decrease the effectiveness of ritodrine. 2. Concurrent use of ritodrine and adrenocorticosteroids (cortisone-like medicines) can lead to additional side effects in the mother or newborn. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Be sure to tell your doctor about any unusual or allergic reactions that you have had to any medications, especially to ritodrine. * Before starting to take ritodrine, be sure to tell your doctor if you now have or if you have ever had diabetes mellitus, eclampsia or pre-eclampsia, heart disease, high blood pressure, pulmonary hypertension, or thyroid disease. * Do not take any over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, or diet medication, unless you first check with your doctor or pharmacist. Some of these products decrease the effectiveness of ritodrine. * You should CHECK WITH YOUR DOCTOR IMMEDIATELY for further instructions if your contractions begin again or if your water bag breaks while you are taking this medication. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ritodrine pagetitle ritodrine 03325.TXT Copyright (C) 1993 Publications International, Ltd. scopolamine (transdermal) _________________________ BRAND NAME (Manufacturer) Transderm-Scop (Ciba) TYPE OF DRUG Antiemetic and antivertigo INGREDIENT scopolamine DOSAGE FORM Transdermal system (the patch delivers 0.5 mg of scopolamine over three days) STORAGE The scopolamine (transermal) patches should be stored at room temperature in their original containers. Always try to keep these containers away from direct heat and light. Scopolamine is used to prevent nausea and vomiting associated with motion sickness. Transdermal scopolamine is a small patch that is applied to the skin. Transdermal application (i.e. application of medicine through the skin) delivers reduced doses of scopolamine, which decreases the risk of adverse side effects. TREATMENT The transdermal system (patches) allows controlled continuous release of scopolamine. Patches are easy to use and convenient. For best results, wash and dry hands thoroughly before handling. Apply the disc to the hairless area of the skin behind the ear at least four hours before the antiemetic effect is required. Do not place over any cuts or irritations. Wash hands thoroughly after handling the disc to prevent direct contact of the medication with the eyes. The medication should last up to three days. If treatment is needed for more than three days, discard the used disc, and replace with a new disc behind the other ear. It is all right to bathe or shower with a patch in place. If the disc becomes displaced at any time during treatment, it should be discarded, and a fresh one placed on the hairless area behind the other ear. If redness or irritation develops at the application site, consult your physician. Do not trim or cut the patches. SIDE EFFECTS Minor. Blurred vision and enlargement of pupils; drowsiness; or dryness of mouth, nose, and throat. To relieve mouth dryness, chew sugarless gum or suck on ice chips or hard candy. If you feel dizzy or light-headed, sit or lie down for a while. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR ABOUT blurred vision (severe); confusion (severe); convulsions; difficulty in breathing; dizziness; drowsiness (severe); dry mouth, nose, or throat (severe); eye pain (severe); fast heart beat; fever; rash; slurred speech; unusual excitement or restlessness; unusual warmth; dryness; or flushing of the skin. INTERACTIONS Scopolamine can interact with other types of medications: 1. It can cause additive drowsiness when combined with alcohol or other central nervous system depressants (such as antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications) or with tricyclic antidepressants. 2. It can cause additive anticholinergic effects (such as dryness of mouth, nose, and throat, or difficulty in urinating) when combined with drugs such as belladonna alkaloids, antidepressants, and antihistamines. Before starting to take scopolamine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to scopolamine. * Tell your doctor if you now have or if you have ever had blockage of the urinary tract, stomach, or intestinal tract. * Tell your doctor if you now have or if you have ever had metabolic, liver, or kidney disease. * Tell your doctor if you have glaucoma (increased pressure in the eyeball). * This medication may cause drowsiness or blurred vision. Make sure you know how you react to this medication before you attempt activities such as driving a car or operating potentially dangerous equipment. * Patients who use the patch for more than three days are more likely to experience dizziness, headache, nausea, or vomiting for a short time following discontinuation. * Do not use the transdermal system on children. * Elderly patients may be especially susceptible to the central nervous system effects (confusion, sedation, memory impairment, unusual excitement) of scopolamine. * Be sure to tell your doctor if you are pregnant. Extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding. It is not known whether scopolamine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. scopolamine (transdermal) pagetitle scopolamine (transdermal) 03326.TXT Copyright (C) 1993 Publications International, Ltd. secobarbital _________________________ BRAND NAMES (Manufacturers) secobarbital sodium (various manufacturers) Seconal (Lilly) TYPE OF DRUG Barbiturate sedative/hypnotic INGREDIENT secobarbital DOSAGE FORMS Tablets (100 mg) Capsules (50 mg and 100 mg) STORAGE Secobarbital tablets and capsules should be stored at room temperature in tightly closed containers. Secobarbital belongs to a group of drugs known as barbiturates, which are central nervous system depressants (drugs that slow the activity of the brain and spinal cord). This medication is used as a sleeping aid in the treatment of insomnia. TREATMENT You can take secobarbital at bedtime. The tablets and capsules can be taken with water, food, or milk. You should not use this drug as a sleeping aid for more than two weeks. With prolonged use, secobarbital loses its ability to induce and sustain sleep. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, a "hangover" feeling, headache, nausea, nightmares, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest tightness, confusion, depression, difficulty in breathing, excitation, fatigue, feeling faint, fever, hives or itching, loss of coordination, muscle or joint pain, skin rash, slurred speech, sore throat, unusual bleeding or bruising, unusual weakness, or yellowing of the eyes or skin. INTERACTIONS Secobarbital interacts with several other types of medications: 1. Concurrent use of this barbiturate medication with other central nervous system depressants (such as alcohol, antihistamines, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Valproic acid, chloramphenicol, and monoamine oxidase (MAO) inhibitors can prolong the effects of secobarbital. 3. Secobarbital can decrease the blood levels and effectiveness of oral anticoagulants (blood thinners, such as warfarin), digoxin, tricyclic antidepressants, cortisone-like medicines, doxycycline, quinidine, estrogens, oral contraceptives (birth control pills), phenytoin, acetaminophen, and carbamazepine. 4. The combination of secobarbital and furosemide can cause low blood pressure and fainting. 5. Secobarbital can increase the side effects of cyclophosphamide or large doses of acetaminophen. Before starting secobarbital, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to secobarbital or to other barbiturates (such as amobarbital, butabarbital, mephobarbital, metharbital, pentobarbital, phenobarbital, and primidone). * Tell your doctor if you now have or if you have ever had acute or chronic (longterm) pain, Addison's disease (caused by an underactive adrenal gland), diabetes mellitus, kidney disease, liver disease, lung disease, mental depression, porphyria, or thyroid disease. * If this medication makes you dizzy or drowsy during the day, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Children, the elderly, and very ill patients are more likely to experience unusual excitement, confusion, or mental depression. * Secobarbital has the potential for abuse and must be used with caution. Tolerance to the medication develops quickly; do not increase the dosage or stop taking this drug unless you first consult your doctor. If you have been taking secobarbital for a long time or have been taking large doses, you may experience anxiety, muscle twitching, tremors, weakness, dizziness, nausea, vomiting, insomnia, or blurred vision when you stop taking it. To avoid or minimize this reaction, your doctor may want to reduce your dosage gradually. * Be sure to tell your doctor if you are pregnant. Barbiturates cross the placenta, and there has been an association between birth defects and the use of this class of drugs during pregnancy. Such drugs may also lead to bleeding complications in the newborn. The risks involved with secobarbital therapy should be discussed with your doctor. In addition, if secobarbital is used for long periods during the last three months of pregnancy, there is a chance that the infant will be born addicted to the medication and will experience a withdrawal reaction (convulsions, irritability) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of secobarbital pass into breast milk and may cause excessive drowsiness and breathing problems in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. secobarbitaldica pagetitle secobarbital 03295.TXT Copyright (C) 1993 Publications International, Ltd. piroxicam _________________________ BRAND NAME (Manufacturer) Feldene (Pfizer) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT piroxicam DOSAGE FORM Capsules (10 mg and 20 mg) STORAGE Store in a tightly closed container at room temperature away from heat and direct sunlight. Piroxicam is used to treat the inflammation (pain, swelling, and stiffness) of certain types of arthritis, gout, bursitis, and tendinitis. Piroxicam blocks the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not fully understood how piroxicam works. TREATMENT You should take this medication on an empty stomach 30 to 60 minutes before meals or two hours after meals, so that it gets into your bloodstream quickly. To decrease stomach irritation, your doctor may want you to take the medicine with food or antacids. It is important to take piroxicam on schedule and not to miss any doses. If you do miss a dose, take the missed dose as soon as possible. However, if you are taking this drug once a day and are six hours late OR if you take this drug twice a day and are two hours late, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you are taking piroxicam to relieve arthritis, you must take it regularly, as directed by your doctor. It may take up to three months before you feel the full benefits of this medication. Piroxicam does not cure arthritis, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Abdominal bloating, constipation, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, soreness of the mouth, unusual sweating, or vomiting. As your body adjusts to the drug, these should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; difficult or painful urination; a problem with hearing; palpitations; ringing or buzzing in the ears; skin rash, hives, or itching; stomach pain; swelling of the feet; tightness in the chest; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; wheezing or difficulty in breathing; or yellowing of the eyes or skin. INTERACTIONS Piroxicam interacts with several types of medications: 1. Anticoagulants (blood thinners, such as warfarin) can lead to an increase in bleeding complications. 2. Aspirin, salicylates, or other anti-inflammatory medications can increase stomach irritation. 3. Probenecid may increase blood levels of piroxicam, which may increase the risks of side effects. 4. The action of beta blockers may be decreased by this drug. 5. This drug may interact with diuretics (water pills). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Before you take this drug, tell your doctor if you have ever had unusual or allergic reactions to piroxicam or any of the other chemically related drugs (including aspirin or other salicylates, diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, oxyphenbutazone, phenylbutazone, sulindac, and tolmetin). * Tell your doctor if you have ever had asthma, bleeding problems, colitis, epilepsy, heart disease, high blood pressure, kidney disease, liver disease, mental illness, Parkinson's disease, or stomach ulcers or other stomach problems. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * This drug can prolong bleeding time. Therefore, before having surgery or any other medical or dental treatment, it is important for you to tell your doctor or dentist that you are taking this medication. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. Aspirin and alcohol should, therefore, be avoided (unless your doctor directs you to do otherwise). * Be sure to tell your doctor if you are pregnant. Although studies in humans have not been conducted, unwanted cardiac (heart) side effects have been observed in the offspring of animals that received this type of drug during pregnancy. If taken late in pregnancy, it can also prolong labor. Also, tell your doctor if you are breast-feeding an infant. Small amounts of piroxicam can pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Feldene 0329501.scf piroxicam logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle piroxicam 03296.TXT Copyright (C) 1993 Publications International, Ltd. potassium chloride _________________________ BRAND NAMES (Manufacturers) Cena-K (Century) Kaochlor (Adria) Kaon (Adria) Kato (ICN) Kay Ciel (Forest) K-Dur (Key) K-Lor (Abbott) Klorvess (Sandoz) Klotrix (Mead Johnson) K-Lyte/Cl (Mead Johnson) Kolyum (Pennwalt) K-Tab (Abbott) Micro-K (Robins) Micro-K Extencaps (Robins) Potachlor (Bay Labs) Potasalan (Lannett) potassium chloride (various manufacturers) Rum-K (Fleming) Slow-K (Ciba) TYPE OF DRUG Potassium replacement INGREDIENT potassium chloride DOSAGE FORMS Effervescent tablets (20 mEq, 25 mEq, and 50 mEq) Sustained-release tablets (6.7 mEq, 8 mEq, 10 mEq, and 20 mEq) Enteric-coated tablets (4 mEq and 13 mEq) Sustained-release capsules (8 mEq and 10 mEq) Oral liquid (10 mEq, 15 mEq, 20 mEq, 30 mEq, and 40 mEq per 15-ml spoonful, with alcohol varying from 0% to 5%) Oral powder (15 mEq, 20 mEq, and 25 mEq per packet) STORAGE Store at room temperature in a tightly closed container. This medication is used to prevent or treat potassium deficiency, especially potassium deficiency that is caused by the use of diuretics (water pills). TREATMENT To avoid stomach irritation, take this drug with food or immediately after a meal. Take it at the same time(s) each day. Each dose of the liquid form of this medication should be measured carefully with a specially designed measuring spoon. An ordinary teaspoon is not accurate enough. If you are taking the liquid, powder, or effervescent tablet form dilute each dose in at least four ounces (1/2 cup) of cold water or juice. Be sure the medication has dissolved completely and has stopped fizzing before you drink it. Then sip it slowly. DO NOT use tomato juice to dissolve this medication (unless your doctor directs you to do so). Tomato juice contains a great deal of sodium. The sustained-release tablets and capsules should be swallowed whole. Chewing, crushing, or breaking these tablets or capsules destroys their sustained-release activity and possibly increases the side effects. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is within two hours of the next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, nausea, stomach pains, or vomiting. These should disappear as your body adjusts to the medicine. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety; bloody or black, tarry stools; confusion; difficulty in breathing; numbness or tingling in the arms, legs, or feet; palpitations; severe abdominal pain; or unusual weakness. INTERACTIONS This drug interacts with several other types of drugs: 1. The combination of potassium chloride with amiloride, spironolactone, or triamterene can lead to hyperkalemia (high levels of potassium in the bloodstream). 2. The combination of digoxin and high doses of potassium chloride can lead to heart problems. Before starting to take potassium chloride, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to potassium. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had Addison's disease, dehydration, heart disease, heat cramps, hyperkalemia, intestinal blockage, kidney disease, myotonia congenita, or peptic ulcers. * Ask your doctor about using a salt substitute instead of potassium chloride; salt substitutes are similar, but less expensive and more convenient. However, salt substitutes should only be used with your doctor's approval. Too much potassium can be dangerous. * If you are taking the sustained-release tablets and you find something that looks like a tablet in your stool, there is no reason for concern. The drug is contained in a wax core that is designed to release the medication slowly. This wax core is eliminated in the stool. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, shortness of breath, or fainting) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe, extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem..S K-Tab,Micro-K Extencaps,Slow-K 0329601.scf,0329602.scf,0329603.scf potassium chloride logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle potassium chloride 03297.TXT Copyright (C) 1993 Publications International, Ltd. prazepam _________________________ BRAND NAME (Manufacturer) Centrax (Parke-Davis) TYPE OF DRUG Benzodiazepine sedative/hypnotic INGREDIENT prazepam DOSAGE FORMS Capsules (5 mg, 10 mg, and 20 mg) Tablets (10 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Prazepam is most often prescribed to treat symptoms of anxiety. It is not clear exactly how this medicine works, but prazepam may relieve anxiety by acting as a depressant of the central nervous system. This medication is currently used by many people to relieve nervousness. It is effective for this purpose for short periods, but it is important to attempt to remove the cause of the anxiety as well. TREATMENT Prazepam should be taken exactly as directed by your doctor. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this medication with a dose of antacids, since they may retard its absorption. If you are taking this medication regularly and you miss a dose, take the missed dose immediately if you remember within an hour. If more than an hour has passed, skip the dose you missed and wait for the next scheduled dose. Do not double the next dose. SIDE EFFECTS Minor. Bitter taste in mouth, constipation, diarrhea, dizziness, drowsiness (after a night's sleep), dry mouth, excessive salivation, fatigue, flushing, headache, heartburn, loss of appetite, nausea, nervousness, sweating, or vomiting. As your body adjusts to the medicine, these side effects should disappear. To relieve constipation during therapy with this medication, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, depression, difficulty in urinating, fainting, falling, fever, joint pain, hallucinations, mouth sores, nightmares, palpitations, rash, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS Prazepam interacts with a number of other types of medications: 1. To prevent oversedation, this drug should not be taken with alcohol, other sedative drugs, central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, medicines for seizures, and phenothiazine tranquilizers), or antidepressants. 2. This medication may decrease the effectiveness of levodopa. 3. This drug may increase the effects of phenytoin. 4. Disulfiram, isoniazid, and cimetidine can increase the blood levels of prazepam, which can lead to toxic effects. 5. Concurrent use of rifampin or carbamazepine may decrease the effectiveness of prazepam. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions that you have had to any medications, especially to prazepam or to other benzodiazepine tranquilizers (such as alprazolam, chlordiazepoxide, clorazepate, diazepam, flurazepam, halazepam, lorazepam, oxazepam, temazepam, and triazolam). * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, epilepsy, lung disease, myasthenia gravis, porphyria, mental depression, or mental illness. * This medicine can cause drowsiness. Your ability to perform tasks that require alertness, such as driving a car or using potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Prazepam has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage without first consulting your doctor. It is also important not to stop this drug suddenly if you have been taking it in large amounts or if you have used it for several weeks. Your doctor may reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects can develop. * Be sure to tell your doctor if you are pregnant. This type of medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may result in addiction of the fetus, leading to withdrawal side effects in the newborn. Also, use of this medicine during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the infant. Tell your doctor if you are breast-feeding an infant. This medicine can pass into the breast milk and cause excessive drowsiness, slowed heartbeat, and breathing difficulties in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. prazepam pagetitle prazepam 03298.TXT Copyright (C) 1993 Publications International, Ltd. prazosin _________________________ BRAND NAMES (Manufacturers) Minipress (Pfizer) prazosin (various manufacturers) TYPE OF DRUG Antihypertensive INGREDIENT prazosin DOSAGE FORM Capsules (1 mg, 2 mg, and 5 mg) STORAGE Prazosin capsules should be stored at room temperature in a tightly closed, light-resistant container. Prazosin is used to treat high blood pressure. It is a vasodilator that relaxes the muscle tissue of the blood vessels, which in turn lowers blood pressure. TREATMENT To avoid stomach irritation, you can take prazosin with food or with a full glass of water or milk. In order to become accustomed to taking this medication, try to take it at the same time(s) each day. The first dose of this medication can cause fainting. Therefore, it is often recommended that this dose be taken at bedtime. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Prazosin does not cure high blood pressure, but it will help to control the condition as long as you continue to take the medication. The effects of this medication may not become apparent for two weeks. SIDE EFFECTS Minor. Abdominal pain, constipation, diarrhea, dizziness, drowsiness, dry mouth, frequent urination, headache, impotence, nasal congestion, nausea, nervousness, sweating, tiredness, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision; chest pain; constant erection; depression; difficulty in breathing; difficulty in urinating; fainting; hallucinations; itching; loss of hair; nosebleeds; palpitations; rapid weight gain (three to five pounds within a week); rash; ringing in the ears; swelling of the feet, legs, or ankles; or tingling of the fingers or toes. INTERACTIONS Prazosin can interact with other types of medications: 1. The combination of prazosin and alcohol or verapamil can lead to a severe drop in blood pressure and fainting. 2. The severity and duration of the blood-pressure-lowering effects of the first dose of prazosin may be enhanced by a beta blocker. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to prazosin or terazosin. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had angina (chest pain) or kidney disease. * Because initial therapy with this drug may cause dizziness or fainting, your doctor will probably start you on a low dosage and increase the dosage gradually. * If this drug makes you dizzy or drowsy or blurs your vision, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * In order to avoid dizziness or fainting while taking this drug, try not to stand for long periods of time, avoid drinking excessive amounts of alcohol, and try not to get overheated (avoid exercising strenuously in hot weather and taking hot baths, showers, and saunas). * Before taking any over-the-counter (nonprescription) sinus, allergy, asthma, cough, cold, or diet preparations, check with your doctor or pharmacist. Some of these products can cause an increase in blood pressure. * Do not stop taking this medication unless you first check with your doctor. If you stop taking this drug you may experience a rise in blood pressure. Your doctor may, therefore, want to decrease your dosage gradually. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe, there have been only limited studies in pregnant women. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Minipress 0329801.scf- prazosins logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle prazosin 03299.TXT @"0"Copyright (C) 1993 Publications International, Ltd. prednisolone (systemic) _________________________ BRAND NAMES (Manufacturers) Delta-Cortef (Upjohn) prednisolone (various manufacturers) Prelone (Muro) Sterapred DS (Mayrand) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT prednisolone DOSAGE FORMS Tablets (5 mg) Oral syrup (15 mg per 5-ml spoonful, with 5% alcohol) STORAGE Prednisolone tablets and oral syrup should be stored at room temperature (never frozen) in a tightly closed container. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Prednisolone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to treat a variety of disorders, including endocrine and rheumatic disorders; asthma; blood diseases; certain cancers; eye disorders; gastrointestinal disturbances, such as ulcerative colitis; respiratory diseases; and inflammations, such as arthritis, dermatitis, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT In order to prevent stomach irritation, you can take prednisolone with food or milk. Each dose of the oral syrup form should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you are taking only one dose of this medication each day, try to take it before 9:00 a.m. This will mimic the body's normal production of this type of chemical. It is important to try not to miss any doses of prednisolone. However, if you do miss a dose, follow these guidelines: 1. If you are taking it more than once a day, take the missed dose as soon as possible and return to your regular dosing schedule. If it is already time for the next dose, double it. 2. If you are taking this medication once a day, take the dose you missed as soon as possible, unless you don't remember until the next day. In that case, do not take the missed dose at all; just follow your regular dosing schedule. Do not double the next dose. 3. If you are taking this drug every other day, take it as soon as you remember. If you missed the scheduled time by a whole day, take it when you remember, then skip a day before you take the next dose. Do not double the next dose. If you miss more than one dose of prednisolone, CONTACT YOUR DOCTOR. SIDE EFFECTS Minor. Dizziness, false sense of well-being, increased appetite, sweating, indigestion, menstrual irregularities, nausea, reddening of the skin on the face, restlessness, sleep disorders, or weight gain. These effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal enlargement; abdominal pain; acne or other skin problems; back or rib pain; bloody or black, tarry stools; blurred vision; convulsions; eye pain; fever and sore throat; growth impairment (in children); headaches; impaired healing of wounds; increased thirst and urination; mental depression; mood changes; muscle wasting or weakness; rapid weight gain (three to five pounds within a week); rash; shortness of breath; thinning of the skin; unusual bruising or bleeding; or unusual weakness. INTERACTIONS Prednisolone interacts with several other types of medications: 1. Alcohol, aspirin, and anti-inflammatory medications (such as diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, and tolmetin) aggravate the stomach problems that are common with use of this medication. 2. The dosage of oral anticoagulants (blood thinners, such as wafarin), oral antidiabetic drugs, or insulin may need to be adjusted when this medication is being taken. 3. The loss of potassium caused by prednisolone can lead to serious side effects in individuals taking digoxin. 4. Thiazide diuretics (water pills) can increase the potassium loss caused by this medication. 5. Phenobarbital, phenytoin, rifampin, or ephedrine can increase the elimination of prednisolone from the body, thereby decreasing its effectiveness. 6. Oral contraceptives (birth control pills) and estrogen-containing drugs may decrease the elimination of this drug from the body, which can lead to an increase in side effects. 7. Prednisolone can increase the elimination of aspirin and isoniazid, thereby decreasing the effectiveness of these two medications. 8. Cholestyramine and colestipol can chemically bind this medication in the stomach and gastrointestinal tract, preventing its absorption. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to prednisolone or other adrenocorticosteroids (such as betamethasone, cortisone, dexamethasone, hydrocortisone, methylprednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had bone disease, diabetes mellitus, emotional instability, glaucoma, fungal infections, heart disease, high blood pressure, high cholesterol levels, myasthenia gravis, peptic ulcers, osteoporosis, thyroid disease, tuberculosis, ulcerative colitis, kidney disease, or liver disease. * To help avoid potassium loss while you are using this medication, you can take your dose of the drug with a glass of fresh or frozen orange juice, or eat a banana each day. The use of a salt substitute also helps prevent potassium loss. Check with your doctor, however, before making any dietary changes or using a salt substitute. * If you are using this medication for longer than a week, you may need to have your dosage adjusted if you are subjected to stress, which you might experience as a result of serious infections, injury, or surgery. Discuss this with your doctor. * If you have been taking this drug for more than a week, do not stop taking it suddenly. If it is stopped abruptly, you may experience abdominal or back pain, dizziness, fainting, fever, muscle or joint pain, nausea, vomiting, shortness of breath, or extreme weakness. Your doctor may, therefore, want to reduce the dosage gradually. Never increase the dosage or take the drug for longer than the prescribed time unless you first consult your doctor. * While you are taking this drug, you should not be vaccinated or immunized. Prednisolone decreases the effectiveness of vaccines and can lead to overwhelming infection if a live-virus vaccine is administered. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this drug can cause glaucoma and cataracts with long-term use, your doctor may want you to have your eyes examined by an ophthalmologist periodically during treatment. * If you are taking prednisolone for prolonged periods, you should wear or carry an identification card or notice stating that you are taking an adrenocorticosteroid. * This medication can raise blood sugar levels in diabetic patients. Blood sugar levels should, therefore, be monitored carefully with blood or urine tests when this medication is being taken. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (shortness of breath, wheezing, rash, fainting) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta, and its safety in humans is not established. Birth defects have been observed in the fetuses of animals who were given large doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid hormone production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. prednisolone (systemic) F#pagetitle prednisolone (systemic) 03300.TXT Copyright (C) 1993 Publications International, Ltd. prednisone (systemic) _________________________ BRAND NAMES (Manufacturers) Deltasone (Upjohn) Liquid Pred (Muro) Meticorten (Schering) Orasone (Reid-Rowell) Panasol-S (Seatrace) Prednicen-M (Central) prednisone (various manufacturers) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT prednisone DOSAGE FORMS Tablets (1 mg, 2.5 mg, 5 mg, 10 mg, 20 mg, 25 mg, and 50 mg) Oral syrup (5 mg per 5-ml spoonful, with 5% alcohol) Oral solution (5 mg per 5-ml spoonful, with 5% alcohol) Oral intensol solution (5 mg per ml, with 30% alcohol) STORAGE Prednisone should be stored at room temperature (never frozen) in a tightly closed container. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Prednisone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to treat a variety of disorders, including endocrine and rheumatic disorders; asthma; blood diseases; certain cancers; eye disorders; gastrointestinal disturbances, such as ulcerative colitis; respiratory diseases; and inflammations, such as arthritis, dermatitis, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT In order to prevent stomach irritation, you can take prednisone with food or milk. If you are taking only one dose of this medication each day, try to take it before 9:00 a.m. The oral syrup or solution form of this medication should be measured carefully with a specially designed dropper (intensol solution) or 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. It is important to try not to miss any doses of prednisone. However, if you do miss a dose, follow these guidelines: 1. If you are taking it more than once a day, take the missed dose as soon as possible and return to your regular dosing schedule. If it is already time for the next dose, double it. 2. If you are taking this medication once a day, take the dose you missed as soon as possible, unless you don't remember until the next day. In that case, do not take the missed dose at all; just follow your regular dosing schedule. Do not double the next dose. 3. If you are taking this drug every other day, take it when you remember. If you missed the scheduled dose by a whole day, take it; then skip a day before you take the next dose. Do not double the dose. If you miss more than one dose of prednisone, CONTACT YOUR DOCTOR. SIDE EFFECTS Minor. Dizziness, false sense of well-being, increased appetite, increased sweating, indigestion, menstrual irregularities, nausea, reddening of the skin on the face, restlessness, sleep disorders, or weight gain. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal enlargement; abdominal pain; acne or other skin problems; back or rib pain; bloody or black, tarry stools; blurred vision; convulsions; eye pain; fever and sore throat; growth impairment (in children); headaches; impaired healing of wounds; increased thirst and urination; mental depression; mood changes; muscle wasting or weakness; rapid weight gain (three to five pounds within a week); rash; shortness of breath; thinning of the skin; unusual bruising or bleeding; or unusual weakness. INTERACTIONS Prednisone interacts with several other types of medications: 1. Alcohol, aspirin, and anti-inflammatory medications (such as diclofenac diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, or tolmetin) aggravate the stomach problems that are common with this drug. 2. The dosage of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic drugs, or insulin may need to be adjusted when this medication is being taken. 3. The loss of potassium caused by prednisone can lead to serious side effects in individuals taking digoxin. 4. Thiazide diuretics (water pills) can increase the potassium loss caused by this medication. 5. Phenobarbital, phenytoin, rifampin, and ephedrine can increase the elimination of prednisone from the body, thereby decreasing its effectiveness. 6. Oral contraceptives (birth control pills) and estrogen-containing drugs may decrease the elimination of this drug from the body, which can lead to an increase in side effects. 7. Prednisone can increase the elimination of aspirin and isoniazid, decreasing the effectiveness of these two drugs. 8. Cholestyramine and colestipol can chemically bind this medication in the stomach and gastrointestinal tract, preventing its absorption. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to prednisone or other adrenocorticosteroids (such as betamethasone, cortisone, dexamethasone, hydrocortisone, methylprednisolone, prednisolone, and triamcinolone). * Tell your doctor if you now have or if you have ever had bone disease, diabetes mellitus, emotional instability, glaucoma, fungal infections, heart disease, high blood pressure, high cholesterol levels, kidney disease, liver disease, myasthenia gravis, peptic ulcers, osteoporosis, thyroid disease, tuberculosis, or ulcerative colitis. * To help avoid potassium loss while using this drug, take your dose with a glass of fresh or frozen orange juice or eat a banana each day. The use of a salt substitute also helps prevent potassium loss. Check with your doctor before making any dietary changes. * If you are using this medication for longer than a week, you may need to have your dosage adjusted if you are subjected to stress, such as serious infections, injury, or surgery. * If you have been taking this drug for more than a week, do not stop taking it suddenly. If it is stopped abruptly, you may experience abdominal or back pain, dizziness, fainting, fever, muscle or joint pain, nausea, vomiting, shortness of breath, or extreme weakness. Your doctor may therefore want to reduce the dosage gradually. Never increase the dosage or take the drug for longer than the prescribed time unless you first consult your doctor. * While you are taking this drug, you should not be vaccinated or immunized. This medication decreases the effectiveness of vaccines and can lead to overwhelming infection if a live-virus vaccine is administered. * Before surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Because this drug can cause glaucoma and cataracts with long-term use, your doctor may want you to have your eyes examined by an ophthalmologist during treatment. * If you are taking this medication for prolonged periods, you should wear or carry an identification card or notice stating that you are taking an adrenocorticosteroid. * This drug can raise blood sugar levels in diabetic patients. Blood sugar should, therefore, be monitored carefully with blood or urine tests when this drug is started. * Be sure to tell your doctor if you are pregnant. Birth defects have been observed in the fetuses of animals that were given large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It has been shown that small amounts of this drug pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. prednisone (systemic) !pagetitle prednisone (systemic) 03301.TXT Copyright (C) 1993 Publications International, Ltd. primidone _________________________ BRAND NAMES (Manufacturers) Myidone (Major) Mysoline (Wyeth-Ayerst) primidone (various manufacturers) TYPE OF DRUG Anticonvulsant INGREDIENT primidone DOSAGE FORMS Tablets (50 mg and 250 mg) Oral suspension (250 mg per 5-ml spoonful) STORAGE Primidone tablets and oral suspension should be stored at room temperature in tightly closed containers. This medication should never be frozen. Primidone is used to treat various seizure disorders. This drug is converted in the body to phenobarbital. It is not clear exactly how primidone or phenobarbital acts to decrease the number of seizures, but both drugs are central nervous system (brain and spinal cord) depressants. TREATMENT In order to avoid stomach irritation, you can take primidone with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. Primidone works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. It is important to try not to miss any doses of this medication. If you do miss a dose and remember within two hours, take the missed dose immediately. If more than two hours have passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss two or more consecutive doses, contact your doctor as soon as possible. SIDE EFFECTS Minor. Dizziness, drowsiness, fatigue, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. TELL YOUR DOCTOR about blurred vision, emotional disturbances, irritability, loss of coordination, or skin rash. INTERACTIONS Primidone interacts with several other types of medications: 1. Concurrent use of primidone with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can lead to extreme drowsiness. 2. The blood levels and therapeutic effects of oral anticoagulants (blood thinners, such as warfarin), adrenocorticosteroids (cortisone-like medications), digitoxin, phenytoin, doxycycline, and tricyclic antidepressants can be decreased by primidone. 3. Primidone can decrease the absorption of griseofulvin from the gastrointestinal tract, thereby decreasing its effectiveness. Before starting to take primidone, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to primidone, phenobarbital, or other barbiturates (such as amobarbital, butabarbital, mephobarbital, pentobarbital, and secobarbital). * Before starting to take primidone, be sure to tell your doctor if you now have or if you have ever had asthma, kidney disease, liver disease, or porphyria. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking primidone. * Do not stop taking this medication unless you first check with your doctor. Stopping the drug abruptly can lead to a worsening of your condition. Your doctor may therefore want to reduce your dosage gradually or start you on another drug when primidone is stopped. * Be sure to tell your doctor if you are pregnant. An increased risk of birth defects in infants of mothers with seizure disorders has been reported. It is unclear whether this increased risk is associated with the disorders or with the anticonvulsant medications, such as primidone, that are used to treat them. Such drugs may also lead to bleeding complications in the newborn. The risks and benefits of treatment should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. Primidone passes into breast milk and can cause extreme drowsiness in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. primidone pagetitle primidone 03302.TXT Copyright (C) 1993 Publications International, Ltd. probenecid _________________________ BRAND NAMES (Manufacturers) Benemid (Merck Sharp & Dohme) Probalan (Lannett) probenecid (various manufacturers) TYPE OF DRUG Uricosuric (antigout preparation) INGREDIENT probenecid DOSAGE FORM Tablets (500 mg) STORAGE Probenecid should be stored at room temperature in a tightly closed container. Probenecid is used to prevent gout attacks. It increases the elimination of uric acid (the chemical responsible for the symptoms of gout) through the kidneys. Probenecid is also occasionally used in combination with penicillin or ampicillin to increase the length of time that the antibiotics remain in the bloodstream. TREATMENT In order to avoid stomach irritation, you may take probenecid with a full glass of water or milk. You should also drink at least ten to 12 full eight-ounce glasses of liquids (not alcoholic beverages) each day to prevent formation of uric acid kidney stones. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Dizziness, frequent urination, headache, loss of appetite, nausea, rash, sore gums, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. TELL YOUR DOCTOR about fatigue, fever, flushing, lower back pain, painful or difficult urination, sore throat, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Probenecid interacts with several other types of drugs: 1. Aspirin and pyrazinamide antagonize (act against) the antigout effects of probenecid. 2. The blood levels of methotrexate, sulfonamide antibiotics, nitrofurantoin, oral antidiabetic medicines, ketoprofen, naproxen, indomethacin, rifampin, sulindac, dapsone, and clofibrate can be increased by probenecid, which can lead to an increase in side effects. 3. Alcohol, chlorthalidone, ethacrynic acid, furosemide, or thiazide diuretics (water pills) can increase blood uric acid levels, which can decrease the effectiveness of probenecid. Before starting to take probenecid, BE SURE TO TELL YOUR DOCTOR about any medications you are taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to probenecid. * Before starting to take probenecid, be sure to tell your doctor if you now have or if you have ever had blood diseases, diabetes mellitus, glucose-6-phosphate dehydrogenase (G6PD) deficiency, kidney stones, peptic ulcers, or porphyria. * Diabetics using Clinitest urine glucose tests may get erroneously high readings of blood sugar levels while they are taking this drug. Temporarily changing to Clinistix or Tes-Tape urine tests will avoid this problem. * If probenecid makes you dizzy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Avoid taking large amounts of vitamin C while on probenecid. Vitamin C can increase the risk of kidney stone formation. * Probenecid is not effective during an attack of gout. It is used to prevent attacks. * Tell your doctor if you are pregnant. Although probenecid appears to be safe, it does cross the placenta. Extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether probenecid passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. probenecid on pagetitle probenecid 03303.TXT Copyright (C) 1993 Publications International, Ltd. probucol _________________________ BRAND NAME (Manufacturer) Lorelco (Merrell Dow) TYPE OF DRUG Antihyperlipidemic (lipid-lowering drug) INGREDIENT probucol DOSAGE FORM Tablets (250 mg and 500 mg) STORAGE Probucol should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat hypercholesterolemia (high blood cholesterol levels) in patients who have not responded to diet, weight reduction, exercise, and control of blood sugar. It is not clear how probucol lowers blood cholesterol levels, but it is thought to decrease the body's own production of cholesterol. TREATMENT Probucol should be taken with meals, in order to maximize its effectiveness. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. The therapeutic benefits of this medication may not become apparent for up to three months after you begin therapy with this drug. SIDE EFFECTS Minor. Diarrhea, dizziness, gas, headache, insomnia, nausea, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Take special care when operating an automobile or potentially dangerous equipment. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision; bloody or black, tarry stools; chest pain; impotence; palpitations; rash; ringing in the ears; sweating; tingling sensations; or unusual bleeding or bruising. INTERACTIONS The effectiveness of chenodiol, used to treat gallstone disease, could possibly be decreased by concurrent probucol therapy. Before starting to take probucol, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially chenodiol. WARNINGS * Tell your doctor about unusual or allergic reactions you may have had to any medications, especially to probucol. * Before starting this medication, be sure to tell your doctor if you now have or have ever had biliary tract disorders, gallstones or gallbladder disease, heart disease, or liver disease. * Do not stop taking this medication unless you first check with your doctor. Stopping the medication abruptly may lead to a rapid increase in blood lipid (fats) and cholesterol levels. Your doctor may want to start you on a special diet or another medication when probucol treatment is stopped. * Be sure to tell your doctor if you are pregnant. Although probucol appears to be safe during pregnancy, extensive studies in humans have not been conducted. If you and your doctor decide that you should stop the medication for a planned pregnancy, some form of birth control should be used for at least six months after probucol therapy is stopped to ensure that the medication has been completely eliminated from the body. Also, tell your doctor if you are breast-feeding an infant. It is not known whether probucol passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. probucolears pagetitle probucol 03304.TXT Copyright (C) 1993 Publications International, Ltd. procainamide _________________________ BRAND NAMES (Manufacturers) procainamide hydrochloride (various manufacturers) Procan-SR (Parke-Davis) Promine (Major) Pronestyl (Princeton Pharm) Rhythmin (Sidmak) TYPE OF DRUG Antiarrhythmic INGREDIENT procainamide DOSAGE FORMS Tablets (250 mg, 375 mg, and 500 mg) Sustained-release tablets (250 mg, 500 mg, 750 mg, and 1,000 mg) Capsules (250 mg, 375 mg, 500 mg) STORAGE Procainamide tablets and capsules should be stored in tightly closed containers in a cool, dry place. Exposure to moisture causes deterioration of this medication. Procainamide is used to treat heart arrhythmias. It corrects irregular heartbeats to achieve a more normal rhythm. TREATMENT To increase absorption, take procainamide with a full glass of water on an empty stomach one hour before or two hours after a meal. However, if it upsets your stomach, ask your doctor if you can take it with food or milk. Try to take it at the same time(s) each day. Procainamide works best when the amount of drug in your bloodstream is kept at a constant level. This medication should, therefore, be taken at evenly spaced intervals day and night. For example, if you are to take this medication four times per day, the doses should be spaced six hours apart. The sustained-release tablets should be swallowed whole. Breaking, chewing, or crushing these tablets destroys their sustained-release activity and possibly increases the side effects. If you miss a dose of this medication and remember within two hours, take the missed dose immediately. If more than two hours have passed (four hours for the sustained-release tablets), do not take the missed dose; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bitter taste in the mouth, diarrhea, dizziness, dry mouth, loss of appetite, nausea, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, chills, confusion, depression, fainting, fatigue, fever, giddiness, hallucinations, itching, joint pain, palpitations, rash, sore throat, unusual bleeding or bruising, or weakness. INTERACTIONS Procainamide interacts with several other types of medications: 1. The combination of digoxin and procainamide can lead to an increase in side effects to the heart. 2. Procainamide can block the effectiveness of neostigmine, pyridostigmine, and prostigmine. 3. Cimetidine, ranitidine, and amiodarone can increase the blood levels of procainamide, which can lead to an increase in side effects. Before starting to take procainamide, TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to procainamide, procaine, lidocaine, benzocaine, or tetracaine. * Before starting this medication, be sure to tell your doctor if you now have or if you have ever had asthma, heart block, kidney disease, liver disease, myasthenia gravis, or systemic lupus erythematosus. * If this drug makes you dizzy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Do not stop taking this drug without first consulting your doctor. Stopping procainamide abruptly may cause a serious change in the activity of your heart. Your doctor may therefore want to reduce your dosage gradually. * If you are taking Procan-SR and you occasionally notice something in your stool that looks like a tablet, it does not mean that the drug is not being absorbed. The drug is "held" in a wax core designed to release the medication slowly. The wax core is eliminated in the stool after the drug has been absorbed. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type symptoms (rash, shortness of breath, fainting) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe, extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether procainamide passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. procainamide pagetitle procainamide 03305.TXT Copyright (C) 1993 Publications International, Ltd. procarbazine _________________________ BRAND NAME (Manufacturer) Matulane (Roche) TYPE OF DRUG Antineoplastic (anticancer drug) INGREDIENT procarbazine DOSAGE FORM Capsules (50 mg) STORAGE Procarbazine capsules should be stored at room temperature in a tightly closed, light-resistant container. This medication belongs to a group of drugs known as alkylating agents. It is used to treat a variety of cancers. Procarbazine is thought to work by binding to the rapidly growing cancer cells, thereby preventing their multiplication and growth. TREATMENT In order to prevent stomach irritation, you can take procarbazine with food or milk (unless your doctor directs you to do otherwise). The timing of the dose of this medication is important. Be sure you completely understand your doctor's instructions on how and when this medication should be taken. If you miss a dose of this medication and remember within a short period of time, take the missed dose immediately. If more than several hours has passed, check with your doctor to find out when the dose should be taken. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, dry mouth, headache, insomnia, loss of appetite, nausea, or vomiting. These side effects may disappear as your body adjusts to the medication. However, it is important to continue taking this medication despite any nausea and vomiting that occur. Procarbazine can also cause hair loss (which is reversible when the medication is stopped). This medication can increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To help relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about unusual bleeding or bruising; bloody or black, tarry stools; blurred vision; changes in hearing ability; chest pain; chills; confusion; convulsions; darkening of the skin; depression; difficulty in swallowing; fainting; flushing; fever; hallucinations; itching; joint pain; lethargy; loss of coordination; menstrual irregularities; mouth sores; muscle pains; nervousness; nightmares; skin rash; slurred speech; sore throat; sweating; tingling sensations; tremors; weakness; or yellowing of the eyes or skin. INTERACTIONS Procarbazine interacts with several other types of medications: 1. Concurrent use of it with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can lead to extreme drowsiness. 2. Diabetic patients should know that procarbazine can increase the blood-sugar-lowering effects of insulin and oral antidiabetic medications. Dosages of these medications may need to be adjusted when procarbazine is being taken. 3. The combination of procarbazine with guanethidine, levodopa, methyldopa, or reserpine can result in excitation and high blood pressure. 4. Concurrent use of procarbazine with tricyclic antidepressants, monoamine oxidase (MAO) inhibitors, amphetamines, decongestants, or phenothiazine tranquilizers can lead to severe reactions. Tricyclic antidepressants should be stopped seven days before starting procarbazine therapy, and MAO inhibitors should be stopped 14 days prior to starting therapy with procarbazine. 5. Ingestion of alcohol while taking procarbazine can result in fainting, flushing, headache, nausea, vomiting, and weakness. Before starting to take procarbazine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to procarbazine. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders, chronic or recurrent infections, diabetes mellitus, kidney disease, or liver disease. * If this drug makes you dizzy or drowsy or blurs your vision, avoid taking part in any activity that requires alertness. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * You should not receive any immunizations or vaccinations while taking this medication. Procarbazine blocks the effectiveness of vaccines and may result in an overwhelming infection if a live-virus vaccine is administered. * Procarbazine can lower your platelet count, thereby decreasing your body's ability to form blood clots. You should, therefore, be especially careful while brushing your teeth, flossing, or using toothpicks, razors, or fingernail scissors. Try to avoid falls and other injuries. * While you are taking procarbazine, avoid eating foods containing tyramine (certain cheeses, soy sauce, fava beans, chicken liver, avocados, bananas, canned figs, raisins, beer, and certain wines). The combination can lead to severe hypertensive (high blood pressure) reactions. * Procarbazine can decrease fertility in both men and women. * Tell your doctor if you are pregnant. Birth defects have been reported in the offspring of both humans and animals that received procarbazine during pregnancy. The risks should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. It is not known whether procarbazine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. procarbazine med pagetitle procarbazine 03306.TXT `%[%Copyright (C) 1993 Publications International, Ltd. prochlorperazine _________________________ BRAND NAMES (Manufacturers) Compazine (Smith Kline & French) Compazine Spansules (Smith Kline & French) prochlorperazine maleate (various manufacturers) TYPE OF DRUG Phenothiazine tranquilizer and antiemetic INGREDIENT prochlorperazine DOSAGE FORMS Tablets (5 mg, 10 mg, and 25 mg) Sustained-release capsules (10 mg, 15 mg, and 30 mg) Suppositories (2.5 mg, 5 mg, and 25 mg) Oral syrup (5 mg per 5-ml spoonful) STORAGE The tablet and capsule forms of this medication should be stored at room temperature in tightly closed, light-resistant containers. The oral syrup and suppository forms may be stored in the refrigerator in tightly closed, light-resistant containers. If the oral syrup turns slightly yellow, the medicine is still effective and can be used. However, if it changes color markedly, or has particles floating in it, it should not be used; rather, it should be discarded down the sink. Prochlorperazine should never be frozen. Prochlorperazine is prescribed to treat the symptoms of certain types of mental illness, such as the emotional symptoms of psychosis, the manic phase of manic-depressive illness, and severe behavioral problems in children. This medication is thought to relieve the symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. Prochlorperazine is also frequently used to treat nausea and vomiting (this medication works at the vomiting center in the brain to relieve nausea and vomiting). TREATMENT To avoid stomach irritation, you can take the tablet or capsule form of this medication with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). Antacids and antidiarrheal medicines may decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least one hour should separate doses of one of these medicines and prochlorperazine. The sustained-release capsules should be swallowed whole; do not crush, break, or open them. Breaking the capsules releases the medication all at once, destroying their sustained-release activity. Measure the oral syrup carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. To use the suppository form, remove the foil wrapper (if the suppository is too soft to insert, refrigerate it for half an hour or run cold water over it before removing the wrapper), and moisten the suppository with water. Lie on your left side with your right knee bent. Push the suppository into the rectum, pointed end first. Lie still for a few minutes. Try to avoid having a bowel movement for at least an hour (to give the medication time to be absorbed). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular schedule. Do not double the dose (unless your doctor directs you to do so). The full effects of this medication for the control of emotional or mental symptoms may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drooling, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, vomiting, or weight gain. As your body adjusts to the medication, these side effects should disappear. Prochlorperazine can also cause discoloration of the urine to red, pink, or red-brown. This is a harmless effect. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about unusual bleeding or bruising; breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; tremors; uncoordinated movements; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Prochlorperazine interacts with several other types of medications: 1. It can cause drowsiness when combined with alcohol or central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications, or with tricyclic antidepressants. 2. Prochlorperazine can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, propranolol, phenytoin, and tricyclic antidepressants may be increased by this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 4. Lithium may increase the side effects and decrease the effectiveness of this medication. 5. Thiazide diuretics can enhance the blood-pressure-lowering side effects of prochlorperazine. Before starting to take prochlorperazine, TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual reactions you have had to any drugs, especially to prochlorperazine or other phenothiazine tranquilizers (such as chlorpromazine, fluphenazine, mesoridazine, perphenazine, promazine, thioridazine, trifluoperazine, and triflupromazine) or to loxapine. * Tell your doctor if you have a history of alcoholism or if you now have or have ever had any blood disease, bone marrow disease, brain disease, breast cancer, blockage in the urinary or digestive tracts, drug-induced depression, epilepsy, high or low blood pressure, diabetes mellitus, glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or an enlarged prostate gland. * Tell your doctor about any recent exposure to a pesticide or an insecticide. Prochlorperazine may increase the side effects from the exposure. * To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * This medication can decrease sweating and heat release from the body. You should therefore try not to get overheated (avoid exercising strenuously in hot weather, and avoid taking hot baths, showers, and saunas). * Do not stop taking prochlorperazine suddenly if you have been taking it for a prolonged period. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or a worsening of your condition. Your doctor may therefore want to reduce the dosage gradually. * If you are planning to have a myelogram, or any other procedure in which dye will be injected into your spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral syrup form of this medication on your skin or clothing; it may cause redness and irritation. * While taking this medication, do not take any over-the-counter medications for weight control or for cough, cold, allergy, asthma, or sinus problems unless you first check with your doctor. The combination of these medications with prochlorperazine may cause high blood pressure. * Be sure to tell your doctor if you are pregnant. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Compazine Spansules 10 mg,Compazine Spansules 15 mg 0330601.scf,0330602.scf prochlorperazine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField r)J)o) Additional Materials )pagetitle prochlorperazine 03307.TXT Copyright (C) 1993 Publications International, Ltd. promazine _________________________ BRAND NAME (Manufacturer) Sparine (Wyeth-Ayerst) TYPE OF DRUG Phenothiazine tranquilizer INGREDIENT promazine DOSAGE FORM Tablets (25 mg, 50 mg, and 100 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Promazine is prescribed to treat the symptoms of certain types of mental illness, such as emotional symptoms of psychosis, the manic phase of manic-depressive illness, and severe behavioral problems in children. It is thought to relieve symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. TREATMENT To avoid stomach irritation, you can take this medication with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the dose (unless your doctor directs you to do so). Antacids and antidiarrheal medicines may decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least one hour should separate doses of one of these medicines and promazine. The full effects of this medication for the control of emotional or mental symptoms may not become apparent until two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drooling, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, vomiting, or weight gain. As your body adjusts to the medication, these side effects should disappear. Promazine can also cause discoloration of the urine to red, pink, or red-brown. This is a harmless effect. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (raw fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about unusual bleeding or bruising; breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; tremors; uncoordinated movements; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS This medication interacts with a number of other types of medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications, or with tricyclic antidepressants. 2. Promazine can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, propranolol, phenytoin, and tricyclic antidepressants may be increased by this medication. 4. Lithium may increase the side effects and decrease the effectiveness of this medication. Before starting to take promazine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS Tell your doctor about unusual or allergic reactions you have had to any medications, especially to promazine or other phenothiazine tranquilizers (such as chlorpromazine, fluphenazine, mesoridazine, perphenazine, prochlorperazine, thioridazine, trifluoperazine, and triflupromazine) or to loxapine. Tell your doctor if you have a history of alcoholism or if you now have or have ever had any blood disease, bone marrow disease, brain disease, breast cancer, blockage in the urinary or digestive tracts, drug-induced depression, epilepsy, high or low blood pressure, diabetes mellitus, glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or an enlarged prostate gland. Tell your doctor about any recent exposure to a pesticide or an insecticide. Promazine may increase the side effects from the exposure. To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. This medication can decrease sweating and heat release from the body. You should, therefore, try not to get overheated (avoid strenuous exercise in hot weather and do not take hot baths, showers, and saunas). Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or a worsening of your condition. Your doctor may, therefore, want to reduce the dosage gradually. If you are planning to have a myelogram, or any other procedure in which dye will be injected into the space surrounding your spinal cord, tell your doctor that you are taking this medication. While taking this medication, do not take any over-the-counter (nonprescription) medication for weight control or for cough, cold, allergy, asthma, or sinus problems unless you first check with your doctor. The combination of these medications may cause high blood pressure. Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unwanted effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. promazine pagetitle promazine 03308.TXT Copyright (C) 1993 Publications International, Ltd. promethazine _________________________ BRAND NAMES (Manufacturers) Phenameth (Major) Phenergan (Wyeth-Ayerst) promethazine (various manufacturers) Prothazine (Vortech) TYPE OF DRUG antihistamine and antiemetic INGREDIENT promethazine DOSAGE FORMS Tablets (12.5 mg, 25 mg, and 50 mg) Oral syrup (6.25 mg per 5-ml spoonful, with 7% alcohol; 25 mg per 5-ml spoonful, with 1.5% alcohol) Rectal suppositories (12.5 mg, 25 mg, and 50 mg) STORAGE Promethazine tablets and oral syrup should be stored at room temperature (never frozen) in tightly closed, light-resistant containers. The suppositories should be kept in the refrigerator in a tightly closed container. Promethazine is prescribed for a wide range of conditions. Promethazine belongs to a group of drugs known as antihistamines, which block the action of histamine, a chemical that is released by the body during an allergic reaction. It is, therefore, used to treat or prevent symptoms of allergy or hay fever. Promethazine also (1) works at the vomiting center in the brain and can be used for the prevention or treatment of nausea and vomiting; (2) is a central nervous system (brain and spinal cord) depressant, which produces light sleep or mild sedation; and (3) prevents motion sickness. TREATMENT To avoid stomach irritation, you can take the tablet or oral syrup form of this medication with a meal or with a glass of water or milk (unless your doctor directs otherwise). Measure the oral syrup carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. To use the suppository, remove the foil wrapper (if the suppository is too soft to insert, refrigerate it for half an hour or run cold water over it before removing the wrapper), and moisten the suppository with water. Lie on your left side with your right knee bent. Push the suppository into the rectum, pointed end first. Lie still for a few minutes. Try to avoid having a bowel movement for at least an hour (to give the medication time to be absorbed). If you are taking this medication regularly and you miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular schedule. Do not double the next dose (unless your doctor directs you to do so). SIDE EFFECTS Minor. Blurred vision, diarrhea, dizziness, drowsiness, dry mouth, light-headedness, nausea, or vomiting. These side effects should disappear as your body adjusts to this drug. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. To reduce mouth dryness, chew sugarless gum or suck on ice chips or hard candy. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by alternately pushing one foot against the floor while raising the other foot slightly, so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion; disorientation; involuntary movements of the face, mouth, jaw, or tongue; rash; uncoordinated movements; unusual bleeding or bruising; or yellowing of the eyes or skin. INTERACTIONS Promethazine interacts with other types of medications: 1. Promethazine can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications, or with tricyclic antidepressants. 2. Promethazine can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, propranolol, and tricyclic antidepressants may be increased by this medication. At least 14 days should separate the use of this medication and the use of an MAO inhibitor. TELL YOUR DOCTOR about any of the medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to promethazine or any chemically related phenothiazine drug (chlorpromazine, fluphenazine, mesoridazine, perphenazine, prochlorperazine, promazine, thioridazine, trifluoperazine, triflupromazine). * Before starting promethazine, tell your doctor if you now have or if you have ever had asthma, blockage of the urinary or digestive tract, diabetes mellitus, enlarged prostate gland, epilepsy, glaucoma, heart disease, liver disease, peptic ulcers, or sleep apnea. * To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be careful going up and down stairs. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborns whose mothers received this medication close to term. Also, tell your doctor if you are breast-feeding. Small amounts of this medication pass into breast milk and may cause unwanted effects in nursing infants, such as sudden infant death syndrome (SIDS) or sleep apnea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Phenergan 0330801.scfM promethazine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle promethazine 03309.TXT Copyright (C) 1993 Publications International, Ltd. promethazine and codeine combination _________________________ BRAND NAMES (Manufacturers) Phenergan with Codeine (Wyeth-Ayerst) Pherazine with Codeine (Halsey) Prometh with Codeine (Goldline) Prothazine DC (Vortech) TYPE OF DRUG Antihistamine and cough suppressant INGREDIENTS promethazine and codeine DOSAGE FORM Oral syrup (6.25 mg promethazine and 10 mg codeine per 5-ml spoonful, with 7% alcohol) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. This drug combination is used to provide symptomatic relief of coughs due to colds, minor upper respiratory tract infections, or allergy. Promethazine belongs to a group of drugs known as antihistamines, which block the actions of histamine, a chemical released by the body during an allergic reaction. It is used to relieve or prevent symptoms of allergy. Codeine is a narcotic cough suppressant that acts at the cough reflex center in the brain. TREATMENT To avoid stomach upset, you can take this medication with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The oral syrup should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision; constipation; diarrhea; dizziness; dry mouth, throat, or nose; irritability; loss of appetite; confusion; nausea; restlessness; stomach upset; or unusual increase in sweating. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. Avoid prolonged exposure to sunlight, wear protective clothing and sunglasses, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about convulsions, difficulty in breathing, difficult or painful urination, disturbed coordination, excitation, fainting, headaches, muscle spasms, nightmares, nosebleeds, palpitations, rash, ringing or buzzing in the ears, severe abdominal pain, sore throat or fever, or yellowing of the eyes or skin. INTERACTIONS This medicine interacts with other types of drugs: 1. Concurrent use of it with central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers, or with tricyclic antidepressants can cause extreme drowsiness. 2. This medication can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. This combination medication can increase the side effects of monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine) and tricyclic antidepressants. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to promethazine or other antihistamines; to phenothiazine tranquilizers; to codeine; or to any other narcotic cough suppressant or pain medication. * Tell your doctor if you now have or if you have ever had asthma, brain disease, blockage of the urinary or digestive tract, diabetes mellitus, colitis, gallstones or gallbladder disease, glaucoma, heart or blood vessel disease, high blood pressure, kidney disease, liver disease, lung disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * This medication can cause drowsiness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should therefore be taken. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this product contains codeine, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication or have been taking it for a long period of time, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating) when you stop taking it. Your doctor may therefore want to reduce the dosage. * Be sure to tell your doctor if you are pregnant. The effects of this medication during the early stages of pregnancy have not been thoroughly studied in humans. However, regular use of codeine during the later stages of pregnancy may lead to addiction of the fetus, resulting in withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, yawning) in the newborn infant. There are also reports of liver disease and tremors in newborns whose mothers received this medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants as well as sudden infant death syndrome (SIDS) or sleep apnea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. promethazine and codeine combinationm (P pagetitle promethazine and codeine combination 03310.TXT Copyright (C) 1993 Publications International, Ltd. propantheline _________________________ BRAND NAMES (Manufacturers) Norpanth (Vortech) Pro-Banthine (Searle) propantheline bromide (various manufacturers) TYPE OF DRUG Anticholinergic (antiulcer drug) INGREDIENT propantheline DOSAGE FORM Tablets (7.5 mg and 15 mg) STORAGE Store at room temperature in a tightly closed container. Propantheline is used to treat peptic ulcers. It may reduce the amount of acid formed in the stomach. It also relieves cramping and spasms of the gastrointestinal tract and the bladder. TREATMENT Take propantheline 30 minutes before meals and at bedtime (unless your doctor directs you to do otherwise). If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating, blurred vision, constipation, decreased sweating, dizziness, drowsiness, dry mouth, headache, increased sensitivity of the eyes to sunlight, nausea, nervousness, taste disorders, or vomiting. These side effects should disappear as your body adjusts to the medication. To relieve constipation, exercise and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; change positions slowly, and be careful on stairs. To help relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Sunglasses may help to relieve the sensitivity of your eyes to sunlight. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about decreased sexual ability, difficulty in urinating, eye pain, itching, palpitations, or skin rash. INTERACTIONS Propantheline interacts with several other types of drugs: 1. Amantadine, antihistamines, disopyramide, haloperidol, monoamine oxidase (MAO) inhibitors, phenothiazine tranquilizers, procainamide, quinidine, and tricyclic antidepressants can increase the side effects of propantheline. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 2. Antacids and antidiarrheal medications can reduce the absorption of propantheline from the gastrointestinal tract, which can decrease its effectiveness. Therefore, at least two hours should separate doses of one of these types of medications and propantheline. TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to propantheline. * Before starting this medication, be sure to tell your doctor if you now have or if you have ever had glaucoma, heart disease, hiatal hernia, high blood pressure, intestinal blockage, kidney disease, liver disease, lung disease, myasthenia gravis, enlarged prostate gland, thyroid disease, ulcerative colitis, or urinary retention. * This medication can decrease sweating and heat release from the body. You should, therefore, try not to get overheated (avoid strenuous exercise in hot weather, and do not take hot baths, showers, and saunas). * If this medication makes you dizzy or drowsy or blurs your vision, avoid driving a car or operating potentially dangerous equipment. * Be sure to tell your doctor if you are pregnant. Although propantheline appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether propantheline passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Pro-Banthine 0331001.scf propantheline logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle propantheline 03279.TXT Copyright (C) 1993 Publications International, Ltd. phenazopyridine _________________________ BRAND NAMES (Manufacturers) Azo-Standard [*] (Webcon) Baridium [*] (Pfeiffer) Eridium [*] (Hauck) Geridium (Goldline) Phenazodine (Lannett) phenazopyridine hydrochloride (various manufacturers) pyridiate (various manufacturers) pyridium (Parke-Davis) Urodine (various manufacturers) Urogesic (Edwards) * Available (100-mg tablets) without a prescription. TYPE OF DRUG Urinary tract analgesic INGREDIENT phenazopyridine DOSAGE FORM Tablets (100 mg and 200 mg) STORAGE Phenazopyridine tablets should be stored at room temperature in a tightly closed, light-resistant container. Phenazopyridine is used for the symptomatic relief of the burning, pain, and discomfort caused by urinary tract infections or irritations. It is excreted in the urine, where it exerts a topical analgesic effect on the urinary tract. This medication is not useful for other types of pain. TREATMENT Phenazopyridine tablets should be taken with a full glass of water, either with meals or immediately after a meal. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; return to your regular dosing schedule. Do not double the dose. SIDE EFFECTS Minor. Dizziness, headache, indigestion, nausea, stomach cramps, or vomiting. These side effects should disappear as your body adjusts to the medication. This drug causes urine to become orange-red. This is not harmful, but it may stain your clothing. The coloration of the urine will return to normal soon after the drug is discontinued. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about a bluish color of the skin or fingernails, rash, unusual fatigue, or yellowing of the eyes or skin. INTERACTIONS Phenazopyridine should not interact with other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to phenazopyridine. * Tell your doctor if you have ever had kidney disease or hepatitis. * If this drug makes you dizzy, do not take part in any activity that requires alertness, such as driving a car. * Diabetic patients using this medication may get delayed reactions or false-positive readings for sugar or ketones with urine tests. Clinitest is not affected by this medication, but the other urine sugar tests are. * Be sure to tell your doctor if you are pregnant. Although phenazopyridine appears to be safe in animals, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether phenazopyridine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Pyridium 0327901.scf phenazopyridine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle phenazopyridine 03280.TXT Copyright (C) 1993 Publications International, Ltd. phendimetrazine _________________________ BRAND NAMES (Manufacturers) Adipost (Ascher) Adphen (Ferndale) Anorex (Dunhall) Bontril PDM (Carnrick) Bontril Slow-Release (Carnrick) Dyrexan-OD (Trimen) Metra (Forest) Obalan (Lannett) phendimetrazine tartrate (various manufacturers) Plegine (Ayerst) Prelu-2 (Boehringer Ingelheim) Slyn-LL (Edwards) Statobex (Lemmon) Trimcaps (Maynard) Trimstat (Laser) Trimtabs (Maynard) Weh-less (Hauck) Weightrol (Vortech) TYPE OF DRUG Anorectic INGREDIENT phendimetrazine DOSAGE FORMS Tablets (35 mg) Capsules (35 mg) Sustained-release capsules (105 mg) STORAGE Phendimetrazine should be stored at room temperature in a tightly closed, light-resistant container. Phendimetrazine is used as an appetite suppressant during the first few weeks of dieting to help establish new eating habits. This medication is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness lasts only for short periods (three to 12 weeks), however. TREATMENT You can take phendimetrazine with a full glass of water one hour before meals (unless your doctor directs otherwise). The sustained-release form of this medication should be swallowed whole. Breaking, chewing, or crushing these capsules destroys their sustained-release activity and may increase the side effects. In order to avoid difficulty in falling asleep, the last dose of this medication each day should be taken four to six hours (regular tablets) or ten to 14 hours (sustained-release capsules) before bedtime. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, constipation, diarrhea, dizziness, dry mouth, false sense of well-being, fatigue, insomnia, irritability, nausea, nervousness, restlessness, stomach pain, sweating, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the medication. Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. In order to prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in sexual desire, chest pain, difficulty in urinating, enlarged breasts (in either sex), fever, hair loss, headaches, impotence, menstrual irregularities, mental depression, mood changes, mouth sores, muscle pains, palpitations, rash, sore throat, tremors, or unusual bleeding or bruising. INTERACTIONS Phendimetrazine interacts with several other types of drugs: 1. Use of it within 14 days of a monoamine oxidase (MAO) inhibitor (isocarboxazid, pargyline, phenelzine, tranylcypromine) can result in high blood pressure and other side effects. 2. Phenothiazine tranquilizers (especially chlorpromazine) can antagonize (act against) the appetite-suppressant activity of this medication. 3. Phendimetrazine can decrease the blood-pressure-lowering effects of antihypertensive medications (especially guanethidine) and may alter insulin and oral antidiabetic medication dosage requirements in diabetic patients. 4. The side effects of other central nervous system stimulants, such as caffeine and over-the-counter (nonprescription) cough, allergy, asthma, sinus, diet, or cold preparations, may be increased by this medication. Before starting to take phendimetrazine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to phendimetrazine or other appetite suppressants (such as benzphetamine, phenmetrazine, diethylpropion, fenfluramine, mazindol, and phentermine) or to epinephrine, norepinephrine, ephedrine, amphetamines, dextroamphetamine, phenylephrine, phenylpropanolamine, pseudoephedrine, albuterol, metaproterenol, or terbutaline. * Tell your doctor if you have a history of drug abuse or if you have ever had angina, diabetes mellitus, emotional disturbances, glaucoma, heart or cardiovascular disease, high blood pressure, or thyroid disease. * Phendimetrazine can mask the symptoms of extreme fatigue and can cause dizziness or light-headedness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Phendimetrazine is related to amphetamine and may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). You should not increase the dosage of this medication or take it for longer than 12 weeks without first consulting your doctor. It is also important that you not stop taking this medication abruptly--fatigue, sleep disorders, mental depression, nausea, vomiting, or stomach cramps or pain could occur. Your doctor may, therefore, want to decrease your dosage gradually. * Be sure to tell your doctor if you are pregnant. Although studies of phendimetrazine in humans have not been conducted, some of the appetite suppressants have been shown to cause side effects in the fetuses of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this medication passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. phendimetrazine pagetitle phendimetrazine 03281.TXT Copyright (C) 1993 Publications International, Ltd. phenelzine _________________________ BRAND NAME (Manufacturer) Nardil (Parke-Davis) TYPE OF DRUG Monoamine oxidase (MAO) inhibitor INGREDIENT phenelzine DOSAGE FORM Tablets (15 mg) STORAGE Phenelzine should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat depression. Phenelzine belongs to a group of drugs known as monoamine oxidase (MAO) inhibitors. It is not clearly understood how it works, but it is thought to increase the amounts of certain chemicals in the brain that act to relieve depression. TREATMENT You can take phenelzine either on an empty stomach or, to avoid stomach irritation, with food or milk (as directed by your doctor). If you are taking a single daily dose, it is best to take the dose in the morning. If you miss a dose of this medication and remember within two hours, take the missed dose immediately and then return to your regular dosing schedule. If more than two hours has passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. The full therapeutic benefits of this medication may not be observed for up to four weeks after you start to take it. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, dry mouth, fatigue, headache, insomnia, nausea, restlessness, stomach upset, sweating, or weakness. These side effects should disappear as your body adjusts to the medication. Phenelzine can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and drink more water (unless your doctor directs you to do otherwise). To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, blurred vision, changes in sexual ability, chills, confusion, convulsions, darkened tongue, difficult or painful urination, fainting, false sense of well-being, hallucinations, jitteriness, mental disorders, rapid weight gain (three to five pounds within a week), uncoordinated movements, or yellowing of the eyes or skin. If you experience a severe headache, stiff neck, chest pains, palpitations, or vomiting while taking this medication, CONTACT YOUR DOCTOR OR AN EMERGENCY ROOM IMMEDIATELY. These symptoms may be the result of a food or drug interaction. INTERACTIONS Phenelzine interacts with a number of drugs and foods: 1. Concurrent use of phenelzine with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can lead to extreme drowsiness. 2. The dosage of anticonvulsant medications may need to be adjusted when phenelzine is started. 3. The use of phenelzine within 14 days of either another monoamine oxidase inhibitor or carbamazepine, cyclobenzaprine, methyldopa, guanethidine, reserpine, levodopa, meperidine or another narcotic, amphetamines, ephedrine, methylphenidate, phenylpropanolamine, pseudoephedrine, or a tricyclic antidepressant can lead to serious (sometimes fatal) side effects. 4. Tyramine-containing foods and beverages (aged cheeses, sour cream, yogurt, pickled herring, chicken livers, canned figs, raisins, bananas, avocados, soy sauce, broad bean pods, yeast extracts, beer, and certain wines), excessive amounts of caffeine-containing beverages (coffee, tea, cocoa, and cola), or chocolate can also cause serious reactions in patients on phenelzine therapy. 5. Phenelzine can increase the blood-sugar-lowering effects of insulin and oral antidiabetic medications. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. Be sure you are aware of the foods that interact with phenelzine. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to phenelzine. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had asthma, bronchitis, diabetes mellitus, epilepsy, glaucoma, severe headaches, heart or blood vessel disease, kidney disease, liver disease, mental disorders, Parkinson's disease, pheochromocytoma, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Check with your doctor or pharmacist before taking any over-the-counter (nonprescription) asthma, allergy, cough, cold, diet, or sinus preparations. Concurrent use of some of these products with phenelzine can lead to serious side effects. * If you also have angina, do not increase your amount of physical activity unless you first check with your doctor. Phenelzine can decrease the symptoms of angina without decreasing the risks of strenuous exercise. * Be sure to tell your doctor if you are pregnant. Studies in animals have shown that phenelzine can cause birth defects if it is taken in high doses during pregnancy. Studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of phenelzine may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. phenelzine/ pagetitle phenelzine 03282.TXT Copyright (C) 1993 Publications International, Ltd. phenmetrazine _________________________ BRAND NAME (Manufacturer) Preludin Endurets (Boehringer Ingelheim) TYPE OF DRUG Anorectic INGREDIENT phenmetrazine DOSAGE FORM Sustained-release tablets (75 mg) STORAGE Phenmetrazine should be stored at room temperature in tightly closed, light-resistant containers. Phenmetrazine is used as an appetite suppressant during the first few weeks of dieting to help establish new eating habits. This medication is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness lasts only for short periods (three to 12 weeks), however. TREATMENT You can take phenmetrazine with a full glass of water one hour before meals (unless your doctor directs you to do otherwise). This medication should be swallowed whole. Breaking, chewing, or crushing these tablets destroys their sustained-release activity and may increase the side effects. To avoid difficulty in falling asleep, take the last dose of this medication each day ten to 14 hours before bedtime. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, constipation, diarrhea, dizziness, dry mouth, false sense of well-being, fatigue, insomnia, irritability, nausea, nervousness, restlessness, stomach pain, sweating, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the drug. If you experience mouth dryness, try sucking on ice chips or a piece of hard candy or chewing sugarless gum. In order to prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in sexual desire, chest pain, difficulty in urinating, enlarged breasts (in both sexes), fever, hair loss, headaches, impotence, menstrual irregularities, mental depression, mood changes, mouth sores, muscle pains, palpitations, rash, sore throat, tremors, or unusual bleeding or bruising. INTERACTIONS Phenmetrazine interacts with several other types of drugs: 1. Use of it within 14 days of a monoamine oxidase (MAO) inhibitor (isocarboxazid, pargyline, phenelzine, or tranylcypromine can result in high blood pressure and other side effects. 2. Tricyclic antidepressants and phenothiazine tranquilizers (especially chlorpromazine) can antagonize (act against) the appetite-suppressant activity of this drug. 3. Phenmetrazine can decrease the blood-pressure-lowering effects of antihypertensive medications (especially guanethidine) and may alter insulin and oral antidiabetic medication dosage requirements in diabetic patients. 4. The side effects of other central nervous system stimulants, such as caffeine or over-the-counter (nonprescription) diet, cough, cold, sinus, asthma, or allergy preparations, may be increased by this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to phenmetrazine or other appetite suppressants (such as benzphetamine, phendimetrazine, diethylpropion, fenfluramine, mazindol, and phentermine), or to epinephrine, norepinephrine, ephedrine, amphetamines, dextroamphetamine, phenylephrine, phenylpropanolamine, pseudoephedrine, albuterol, metaproterenol, or terbutaline. * Tell your doctor if you have a history of drug abuse or if you now have or have ever had angina, diabetes mellitus, emotional disturbances, glaucoma, heart or cardiovascular disease, high blood pressure, or thyroid disease. * Phenmetrazine can mask the symptoms of extreme fatigue and can cause dizziness or light-headedness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Phenmetrazine is related to amphetamine and may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). Therefore, you should not increase your dosage of this medication or take it for longer than 12 weeks, unless you first consult your doctor. It is also important that you not stop taking this medication abruptly--fatigue, sleep disorders, mental depression, nausea or vomiting, or stomach cramps or pain could occur. Your doctor may, therefore, want to decrease the dosage gradually in order to prevent or minimize these side effects. * Phenmetrazine 75-mg sustained-release tablets contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (fainting, shortness of breath, or rash) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Although studies of phenmetrazine in humans have not been conducted, some of the appetite suppressants have been shown to cause side effects in the fetuses of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this medication passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. phenmetrazine pagetitle phenmetrazine 03283.TXT Copyright (C) 1993 Publications International, Ltd. phenobarbital _________________________ BRAND NAMES (Manufacturers) Barbita (Vortech) phenobarbital (various manufacturers) Solfoton (Poythress) TYPE OF DRUG Barbiturate sedative and anticonvulsant INGREDIENT phenobarbital DOSAGE FORMS Tablets (8 mg, 16 mg, 32 mg, 65 mg, and 100 mg) Capsules (16 mg) Oral liquid (15 mg and 20 mg per 5-ml spoonful, with 13.5% alcohol) STORAGE Phenobarbital tablets and capsules should be stored at room temperature in tightly closed containers. The oral liquid should be stored at room temperature in a tightly closed, light-resistant container. Phenobarbital liquid should not be used if the solution becomes cloudy--it is no longer effective. This medication should never be frozen. Phenobarbital is used to control convulsions, to relieve anxiety or tension, and to promote sleep. Phenobarbital belongs to a group of drugs known as barbiturates. The barbiturates are central nervous system (brain and spinal cord) depressants. TREATMENT In order to avoid stomach irritation, you should take phenobarbital with food or with a full glass of water or milk. The oral liquid should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The liquid dose can be taken by itself or diluted with water, milk, or fruit juice. If phenobarbital is being taken as a sleeping aid, take it 30 to 60 minutes before you want to go to sleep. If you are taking this medication for the treatment of seizures, phenobarbital works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take three doses a day, the doses should be spaced eight hours apart. If you are taking this medication on a regular basis and you miss a dose, take the missed dose as soon as you remember. However, if it is almost time for your next dose, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you are taking this medication to control seizures and you miss more than two doses, be sure to contact your doctor immediately. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, a "hangover" feeling, headache, nausea, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest tightness, confusion, depression, difficulty in breathing, excitation, fatigue, feeling faint, hives or itching, loss of coordination, muscle or joint pain, skin rash, slurred speech, sore throat, unusual bleeding or bruising, unusual weakness, or yellowing of the eyes or skin. INTERACTIONS Phenobarbital interacts with other types of medications: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. Valproic acid, chloramphenicol, and monoamine oxidase (MAO) inhibitors can prolong the effects of the barbiturates. 3. Phenobarbital can increase the elimination from the body (thereby decreasing the effectiveness) of oral anticoagulants (blood thinners, such as warfarin), digitoxin, tricyclic antidepressants, cortisone-like medications, doxycycline, metronidazole, quinidine, oral contraceptives (birth control pills), estrogen-containing drugs, phenytoin, acetaminophen, and carbamazepine. 4. Phenobarbital can decrease the absorption of griseofulvin from the gastrointestinal tract. 5. The combination of phenobarbital and furosemide can cause low blood pressure and fainting. 6. Phenobarbital can increase the side effects of cyclophosphamide or large doses of acetaminophen. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to phenobarbital or other barbiturates (such as amobarbital, butabarbital, mephobarbital, pentobarbital, primidone, and secobarbital). * Tell your doctor if you now have or if you have ever had acute or chronic (long-term) pain, Addison's disease (caused by an underactive adrenal gland), diabetes mellitus, kidney disease, liver disease, lung disease, mental depression, porphyria, or thyroid disease. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist you are taking this drug. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * This drug has the potential for abuse and must be used with caution. Tolerance to the medication develops quickly; do not increase the dosage or stop taking this drug unless you first consult your doctor. If you have been taking this drug for a long time or have been taking large doses of it, you may experience anxiety, muscle twitching, tremors, weakness, dizziness, nausea, vomiting, insomnia, or blurred vision when you stop taking it. Your doctor may, therefore, want to reduce your dosage of this medication gradually. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, fainting, difficulty in breathing) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Phenobarbital crosses the placenta, and birth defects have been associated with the use of this medication during pregnancy. If phenobarbital is used during the last three months of pregnancy, there is a chance that the infant will be born addicted to the medication and will experience a withdrawal reaction (seizures or irritability) at birth. The infant could also be born with bleeding problems. The risks and benefits of treatment should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. Small amounts of phenobarbital pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. phenobarbital pagetitle phenobarbital 03284.TXT Copyright (C) 1993 Publications International, Ltd. phentermine _________________________ BRAND NAMES (Manufacturers) Adipex-P (Lemmon) Dapex (Ferndale) Fastin (Beecham) Ionamin (Pennwalt) Obe-Nix (Holloway) Obephen (Hauck) Obermine (Forest) Obestin-30 (Ferndale) phentermine hydrochloride (various manufacturers) Phentrol (Vortech) Wilpowr (Foy) TYPE OF DRUG Anorectic INGREDIENT phentermine DOSAGE FORMS Tablets (8 mg, 30 mg, and 37.5 mg) Capsules (15 mg, 18.75 mg, 30 mg, and 37.5 mg) Timed-release capsules (15 mg and 30 mg) STORAGE Phentermine should be stored at room temperature in tightly closed, light-resistant containers. Phentermine is used as an appetite suppressant during the first few weeks of dieting, to help establish new eating habits. This medication is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness lasts only for short periods (three to 12 weeks), however. TREATMENT You can take phentermine tablets, capsules, or timed-release capsules with a full glass of water one hour before meals (unless your doctor directs you to do otherwise). The timed-release form of this medication should be swallowed whole. Breaking, chewing, or crushing these capsules destroys their timed-release activity and may increase side effects. In order to avoid difficulty in falling asleep, the last daily dose of this medication should be taken four to six hours (regular tablets and capsules) or ten to 14 hours (timed-release capsules) before bedtime. If you miss a dose of this medication, be sure to take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of the medication. SIDE EFFECTS Minor. Blurred vision, constipation, diarrhea, dizziness, dry mouth, false sense of well-being, fatigue, insomnia, irritability, nausea, nervousness, restlessness, stomach pain, sweating, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the drug. Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. In order to prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in sexual desire, chest pain, difficulty in urinating, enlarged breasts (in both sexes), fever, hair loss, headaches, impotence, menstrual irregularities, mental depression, mood changes, mouth sores, muscle pains, palpitations, rash, sore throat, or tremors. INTERACTIONS Phentermine interacts with several other types of medications: 1. Use of it within 14 days of a monoamine oxidase (MAO) inhibitor (isocarboxazid, pargyline, phenelzine, or tranylcypromine can result in high blood pressure and other side effects. 2. Barbiturate medications and phenothiazine tranquilizers (especially chlorpromazine) can antagonize (act against) the appetite-suppressant activity of this medication. 3. Phentermine can decrease the blood-pressure-lowering effects of antihypertensive medications (especially guanethidine) and may alter insulin and oral antidiabetic medication dosage requirements in diabetic patients. 4. The side effects of other central nervous system stimulants, such as caffeine or over-the-counter (nonprescription) cough, cold, sinus, asthma, diet, or allergy preparations, may be increased by this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to phentermine or other appetite suppressants (such as benzphetamine, phendimetrazine, diethylpropion, fenfluramine, mazindol, and phenmetrazine), or to epinephrine, norepinephrine, ephedrine, amphetamines, dextroamphetamine, phenylephrine, phenylpropanolamine, pseudoephedrine, albuterol, metaproterenol, or terbutaline. * Tell your doctor if you have a history of drug abuse or if you now have or have ever had angina, diabetes mellitus, emotional disturbances, glaucoma, heart or cardiovascular disease, high blood pressure, or thyroid disease. * Phentermine can mask the symptoms of extreme fatigue and can cause dizziness or light-headedness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Phentermine is related to amphetamine and may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). You should, therefore, not increase the dosage of this medication or take it for longer than 12 weeks without first consulting your doctor. Do not stop taking this medication abruptly--fatigue, sleep disorders, mental depression, nausea, vomiting, or stomach cramps or pain could occur. Your doctor may, therefore, want to decrease your dosage gradually. * Be sure to tell your doctor if you are pregnant. Although studies of phentermine in humans have not been conducted, some of the appetite suppressants have been shown to cause side effects in the fetuses of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this medication passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Fastin,Ionamin 0328401.scf,0328402.scf phentermine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle phentermine 03285.TXT Copyright (C) 1993 Publications International, Ltd. phenylbutazone _________________________ BRAND NAMES (Manufacturers) Butazolidin (Geigy) phenylbutazone (various manufacturers) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT phenylbutazone DOSAGE FORMS Tablets (100 mg) Capsules (100 mg) STORAGE Phenylbutazone tablets and capsules should be stored at room temperature in tightly closed containers. Phenylbutazone is used to reduce inflammation (pain, redness, and swelling) due to arthritis or thrombophlebitis when other anti-inflammatory agents have been unsuccessful. It is not clearly understood how phenylbutazone works, but it is thought to act by interfering with the body's inflammatory mechanism or by decreasing the sensitivity of the body's pain mechanism. TREATMENT In order to avoid stomach upset, you can take phenylbutazone with food or with a full glass of water or milk. Ask your doctor if you can take phenylbutazone with an antacid. Phenylbutazone tablets should be swallowed whole. Do not break or crush them. If you miss a dose of this medication and you are taking it once or twice a day, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you are taking phenylbutazone three or more times per day and you miss a dose, take the missed dose right away (if you remember within an hour of the correct time); then take the next dose as scheduled. If more than an hour has passed, however, do not take the missed dose at all; just return to your regular schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, bloating, constipation, diarrhea, drowsiness, gas, headache, heartburn, indigestion, irritability, nausea, numbness, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. You may experience constipation when taking this drug. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; difficulty in breathing; difficulty in hearing; difficult or painful urination; fatigue; fever; itching; mouth sores; rash; ringing in the ears; severe abdominal pain; sore throat; swelling of the ankles; tremors; unusual bleeding or bruising; weight gain of more than three pounds within a week; or yellowing of the eyes or skin. INTERACTIONS Phenylbutazone interacts with several other types of medications: 1. It can increase the kidney side effects of penicillamine; increase skin reactions to chloroquine, gold compounds, and hydroxychloroquine; and increase the effects on the blood of antineoplastic agents (anticancer medicines), chloramphenicol, colchicine, gold compounds, pyrimethamine, and trimethoprim. 2. The gastrointestinal side effects of phenylbutazone analgesic can be increased by the use of alcohol or anti-inflammatory medications. 3. Phenylbutazone can decrease the blood levels and effectiveness of digitoxin, hexobarbital, and cortisone. 4. Cholestyramine can decrease the absorption of phenylbutazone from the gastrointestinal tract, which can decrease its effectiveness. 5. The active blood levels and side effects of oral anticoagulants (blood thinners, such as warfarin), insulin, oral antidiabetic medicines, sulfonamide antibiotics, sodium valproate, methotrexate, sulfonylurea drugs, and phenytoin can possibly be increased by the use of phenylbutazone. 6. Phenylbutazone can decrease the elimination of lithium through the kidneys, which can lead to an increased risk of side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to phenylbutazone or other nonsteroidal anti-inflammatory medications (such as aspirin, diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, oxyphenbutazone, sulfinpyrazone, sulindac, or tolmetin). * Be sure to tell your doctor if you now have or if you have ever had any of the following medical disorders: anemia, blood disorders, heart disease, hypertension, inflamed salivary glands, kidney disease, liver disease, mouth sores, pancreatitis, peptic ulcers, polymyalgia rheumatica, stomach problems, temporal arteritis, or thyroid disease. * Use of this drug has been associated with leukemia, although there is no definite proof that it causes the disease. * If phenylbutazone makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Also, be especially cautious going up and down stairs. * Because phenylbutazone has been shown to prolong your bleeding time, it is very important that you tell your doctor or dentist that you are taking this medication before having surgery or any other type of medical or dental treatment. * This medication has been shown to cause serious blood disorders. Therefore, it should never be used for trivial aches or pains. * This drug should be used for a short time only. Follow your doctor's directions exactly, and never exceed the recommended dosage. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (shortness of breath, rash, or fainting) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Although studies in humans have not been conducted, unwanted effects have been observed in the offspring of animals that received large doses of this drug during pregnancy. If taken late in pregnancy, phenylbutazone can also prolong labor. Also, tell your doctor if you are breast-feeding an infant. Small doses of phenylbutazone pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. phenylbutazoneinop pagetitle phenylbutazone 03286.TXT Copyright (C) 1993 Publications International, Ltd. phenylephrine, phenylpropanolamine, brompheniramine, and guaifenesin combination _________________________ BRAND NAME (Manufacturer) Normatane Expectorant (Vortech) TYPE OF DRUG Adrenergic (decongestant), antihistamine, and expectorant INGREDIENTS phenylephrine, phenylpropanolamine, brompheniramine, guaifenesin, and alcohol DOSAGE FORM Oral expectorant (5 mg phenylephrine, 5 mg phenylpropanolamine, 2 mg brompheniramine, and 100 mg guaifenesin per 5-ml spoonful, with 3.5% alcohol) STORAGE Phenylephrine, phenylpropanolamine, brompheniramine, and guaifenesin combination should be stored at room temperature (never frozen) in a tightly closed container. This drug combination is used to relieve the coughing and congestion of allergy and the common cold. Phenylephrine and phenylpropanolamine belong to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages, thereby reducing swelling and congestion. Brompheniramine belongs to a group of drugs known as antihistamines, which are used to relieve or prevent symptoms of allergy. Antihistamines block the actions of histamine, which is a chemical released by the body during an allergic reaction. Guaifenesin is an expectorant, a drug that loosens bronchial secretions. TREATMENT In order to avoid stomach upset, you can take phenylephrine, phenylpropanolamine, brompheniramine, and guaifenesin combination with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The expectorant should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Anxiety; blurred vision; constipation; diarrhea; dizziness; drowsiness; dry mouth, nose, and throat; heartburn; insomnia; irritability; loss of appetite; nasal congestion; nausea; restlessness; reduced sweating; vomiting; or weakness. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps, wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. In order to avoid difficulty in falling asleep, take the last dose of this medication several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, convulsions, difficult or painful urination, difficulty in breathing, fainting, hallucinations, headaches, loss of coordination, mood changes, nosebleeds, palpitations, rash, severe abdominal pain, sore throat, or unusual bleeding or bruising. INTERACTIONS This medication interacts with several other drugs: 1. Concurrent use of it with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine and tricyclic antidepressants can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The side effects of the antihistamine part of this medication may be increased by quinidine, procainamide, haloperidol, and phenothiazine tranquilizers, and the side effects of the decongestant component can be increased by digoxin or over-the-counter (nonprescription) diet, allergy, asthma, cough, cold, or sinus preparations. 4. The blood-pressure-lowering effects of guanethidine may be decreased by phenylephrine, phenylpropanolamine, brompheniramine, and guaifenesin combination. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to brompheniramine or other antihistamines (such as azatadine, chlorpheniramine, carbinoxamine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine); to phenylpropanolamine, phenylephrine, or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, pseudoephedrine, and terbutaline); or to guaifenesin. * Tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, glaucoma, heart or blood vessel disease, hiatal hernia, high blood pressure, myasthenia gravis, obstructed bladder or intestinal tract, peptic ulcers, enlarged prostate gland, or thyroid disease. * Because phenylephrine, phenylpropanolamine, brompheniramine, and guaifenesin combination can reduce sweating and heat release from the body, you should avoid excessive work and exercise in hot weather, and do not take hot baths, showers, and saunas. * While you are taking this drug, drink at least eight glasses of water a day to help loosen bronchial secretions. * This medication can cause drowsiness. Exercise caution when performing tasks that require alertness. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. phenylephrine, phenylpropanolamine, bromphenira...e, and guaifenesin combination pagetitle phenylephrine, phenylpropanolamine, brompheniramine, and guaifenesin combination 03287.TXT Copyright (C) 1993 Publications International, Ltd. phenylephrine, promethazine, and codeine combination _________________________ BRAND NAMES (Manufacturers) Phenazine VC with Codeine (Halsey) Phenergan VC with Codeine (Wyeth-Ayerst) Prometh VC with Codeine (various manufacturers) TYPE OF DRUG Adrenergic (decongestant), antihistamine, and cough suppressant combination INGREDIENTS phenylephrine, promethazine, and codeine DOSAGE FORM Oral syrup (5 mg phenylephrine, 6.25 mg promethazine, and 10 mg codeine per 5-ml spoonful, with 7% alcohol) STORAGE Phenylephrine, promethazine, and codeine combination should be stored at room temperature (never frozen) in a tightly closed, light-resistant container. This combination medication is used to provide symptomatic relief of coughs due to colds, minor upper respiratory tract infections, and allergy. Phenylephrine belongs to a group of drugs known as adrenergic agents (decongestants), which constrict blood vessels in the nasal passages to reduce swelling and congestion. Promethazine belongs to a group of drugs known as antihistamines, which block the actions of histamine, a chemical released by the body during an allergic reaction. It is used to relieve or prevent symptoms of allergy. Codeine is a narcotic cough suppressant that acts on the cough reflex center in the brain. TREATMENT To avoid stomach upset, take this medication with food, milk, or water (unless your doctor directs otherwise). The oral syrup should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, constipation, diarrhea, dizziness, dry mouth, heartburn, insomnia, loss of appetite, confusion, nasal congestion, nausea, nervousness, rash, restlessness, sweating, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. In order to avoid difficulty in falling asleep, check with your doctor to see if you can take the last dose of this medication several hours before bedtime each day. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about convulsions, difficult or painful urination, difficulty in breathing, disturbed coordination, excitation, fainting, headaches, muscle spasms, nightmares, nosebleeds, severe abdominal pain, or sore throat or fever. INTERACTIONS This medication interacts with other types of drugs: 1. Concurrent use of this medication with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. This medication can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine and tricyclic antidepressants may also be increased. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to promethazine or other antihistamines (such as azatadine, brompheniramine, carbinoxamine, clemastine, cyproheptadine, chlorpheniramine, dexbrompheniramine, dimenhydrinate, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, pyrilamine, trimeprazine, tripelennamine, and triprolidine); to phenothiazine tranquilizers, phenylephrine, or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, pseudoephedrine, phenylpropanolamine, and terbutaline); or to codeine or any other narcotic cough suppressant or pain medication. * Tell your doctor if you now have or if you have ever had asthma, brain disease, blockage of the urinary or digestive tract, diabetes mellitus, colitis, gallbladder disease, glaucoma, heart or blood vessel disease, high blood pressure, kidney disease, liver disease, lung disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * This medication can cause drowsiness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Because this product contains codeine, there is a potential for abuse, so it must be used with caution. This medication usually should not be taken for longer than ten days at a time since a tolerance may develop quickly. Do not increase the dosage unless you first consult your doctor. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant. The effects of this medication during the early stages of pregnancy have not been thoroughly studied in humans. However, regular use of codeine during the later stages of pregnancy may lead to addiction of the fetus, resulting in withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. phenylephrine, promethazine, and codeine combinationGS pagetitle phenylephrine, promethazine, and codeine combination 03288.TXT Copyright (C) 1993 Publications International, Ltd. phenylpropanolamine and chlorpheniramine combination _________________________ BRAND NAMES (Manufacturers) Allerest 12-Hour [*] (Fisons) Condrin-LA (Hauck) Conex D.A. [*] (Forest) Contac 12-Hour [*] (Smith Kline Consumer) Dehist [*] (Forest) Demazin [*] (Schering) Drize (Ascher) Dura-Vent/A (Dura) Genamin [*] (Goldline) Gencold [*] (Goldline) Myminic [*] (My-K Labs) Oragest T.D. (Major) Ornade (Smith Kline & French) phenylpropanolamine HCl and chlorpheniramine maleate (Cord) Resaid S.R. (Geneva Generics) Rhinolar-Ex 12 (McGregor) Ru-Tuss II (Boots) Triaminic [*] (Dorsey) Triaminic-12 [*] (Sandoz) Trind [*] (Mead Johnson Nutrition) Triphenyl (Rugby) * Available over-the-counter (without a prescription) TYPE OF DRUG Adrenergic (decongestant) and antihistamine INGREDIENTS phenylpropanolamine and chlorpheniramine DOSAGE FORMS Oral tablets (25 mg or 37.5 mg phenylpropanolamine and 4 mg chlorpheniramine) Sustained-release tablets (25 mg phenylpropanolamine and 4 mg chlorpheniramine) Sustained-release capsules (75 mg phenylpropanolamine and 4 mg, 8 mg, 10 mg, or 12 mg chlorpheniramine) Oral syrup (12.5 mg phenylpropanolamine and 2 mg chlorpheniramine per 5-ml spoonful, with 5% or 7.5% alcohol) STORAGE Store this drug at room temperature in a tightly closed container. This drug combination is used to relieve the symptoms of upper respiratory tract infections, hay fever and other allergies, and sinusitis (inflammation of the sinuses). Phenylpropanolamine belongs to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages, thereby reducing swelling and congestion. Chlorpheniramine belongs to a group of drugs known as antihistamines, which block the action of histamine, a chemical released by the body during an allergic reaction. It is used to relieve or prevent symptoms of allergy. TREATMENT In order to avoid stomach upset, you can take phenylpropanolamine and chlorpheniramine combination with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The oral syrup form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. The sustained-release tablets and capsules should be swallowed whole. Breaking, chewing, or crushing these tablets or capsules destroys their sustained-release activity and may increase the side effects. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Anxiety; blurred vision; constipation; diarrhea; dizziness; drowsiness; dry mouth, nose, and throat; heartburn; insomnia; irritability; loss of appetite; nasal congestion; nausea; restlessness; decreased sweating; vomiting; or weakness. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps, wear protective clothing, and use a sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. In order to avoid difficulty in falling asleep, take the last dose of this medication several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, convulsions, difficult or painful urination, difficulty in breathing, fainting, hallucinations, headaches, loss of coordination, confusion, mood changes, nosebleeds, palpitations, rash, severe abdominal pain, sore throat, or unusual bleeding or bruising. INTERACTIONS This drug interacts with several other types of drugs: 1. Concurrent use of it with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine and tricyclic antidepressants can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The side effects of the antihistamine part of this medication may be increased by quinidine, procainamide, haloperidol, and phenothiazine tranquilizers; and the side effects of the decongestant component may be increased by digoxin or over-the-counter (nonprescription) diet, allergy, asthma, cough, cold, or sinus preparations. 4. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to chlorpheniramine or other antihistamines (such as azatadine, brompheniramine, carbinoxamine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine) or to phenylpropanolamine or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, pseudoephedrine, and terbutaline). * Tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, glaucoma, heart or blood vessel disease, hiatal hernia, high blood pressure, myasthenia gravis, obstructed bladder or intestinal tract, peptic ulcers, enlarged prostate gland, or thyroid disease. * Because this drug can reduce sweating and heat release from the body, avoid excessive work or exercise in hot weather, and do not take hot baths, showers, or saunas. * This medication can cause drowsiness. Exercise caution when performing tasks that require alertness, such as driving a car or operating potentially dangerous machinery. Be especially careful going up and down the stairs. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. phenylpropanolamine and chlorpheniramine combina...n if pagetitle phenylpropanolamine and chlorpheniramine combination 03289.TXT Copyright (C) 1993 Publications International, Ltd. phenylpropanolamine and guaifenesin combination _________________________ BRAND NAMES (Manufacturers) Banex-LA (Lu Chem) Dura-Vent (Dura) Entex L.A. (Norwich-Eaton) Guaipax (Vitarine) Nolex LA (Carnrick) Rymed-TR (Edwards) Tega D&E (Ortega) TYPE OF DRUG Adrenergic (decongestant) and expectorant INGREDIENTs phenylpropanolamine and guaifenesin DOSAGE FORM Sustained-release tablets (75 mg phenylpropanolamine and 400 mg or 600 mg guaifenesin) STORAGE Phenylpropanolamine and guaifenesin combination tablets and capsules should be stored at room temperature in tightly closed containers. This drug combination is used to relieve the coughing and congestion associated with colds, sinusitis (inflammation of the sinuses), sore throat, bronchitis, and asthma. Phenylpropanolamine belongs to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages, thereby reducing swelling and congestion. Guaifenesin is an expectorant, a drug that loosens bronchial secretions. TREATMENT In order to avoid stomach upset, you can take phenylpropanolamine and guaifenesin combination with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). These sustained-release tablets should be swallowed whole. Breaking, chewing, or crushing them destroys their sustained-release activity and may increase side effects. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Insomnia, nervousness, or restlessness. These side effects should disappear as your body adjusts to the medication. In order to help you avoid difficulty in falling asleep, take the last dose of this medication several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fainting, headaches, nosebleeds, or palpitations. INTERACTIONS This drug interacts with several other medications: 1. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 2. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. 3. The side effects of the decongestant component of this medication can be increased by digoxin or by over-the-counter (nonprescription) allergy, asthma, cough, cold, diet, or sinus preparations. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to guaifenesin or phenylpropanolamine or to other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, pseudoephedrine, and terbutaline). * Tell your doctor if you now have or if you have ever had diabetes mellitus, glaucoma, heart or blood vessel disease, high blood pressure, enlarged prostate, or thyroid disease. * While you are taking this drug, drink at least eight glasses of water a day to loosen bronchial secretions. * Be sure to tell your doctor if you are pregnant or if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Entex L.A. 0328901.scf phenylpropanolamine and guaifenesin combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle phenylpropanolamine and guaifenesin combination 03290.TXT Copyright (C) 1993 Publications International, Ltd. phenylpropanolamine, phenylephrine, and brompheniramine combination _________________________ BRAND NAMES (Manufacturers) Bromophen T.D. (Rugby) brompheniramine, phenylephrine, and phenypropanolamine (Lederle) Bromtapp Extended Tabs (Blue Cross) Dimetapp Extentabs [*] (Robins) Normatane Elixir (Vortech) Tamine SR (Geneva Generics) Veltap Elixir (Lannett) * Recently reformulated Dimetapp does not contain phenylephrine and is available without a prescription. TYPE OF DRUG Adrenergic (decongestant) and antihistamine INGREDIENTS phenylpropanolamine, phenylephrine, and brompheniramine DOSAGE FORMS Sustained-release tablets (15 mg phenylpropanolamine, 15 mg phenylephrine, and 12 mg brompheniramine; recently reformulated Dimetapp Extentabs contain 75 mg phenylpropanolamine and 12 mg brompheniramine, but no phenylephrine) Oral elixir (5 mg phenylpropanolamine, 5 mg phenylephrine, 4 mg brompheniramine per 5-ml spoonful, with 2.3% or 3% alcohol) STORAGE The tablets and oral elixir should be stored at room temperature in tightly closed, light-resistant containers. This medication should never be frozen. This drug combination is used to relieve the symptoms of upper respiratory tract infections, hay fever and other allergies, and sinusitis (inflammation of the sinuses). Phenylpropanolamine and phenylephrine belong to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages, thereby reducing swelling. Brompheniramine belongs to a group of drugs known as antihistamines, which block the actions of histamine, a chemical released during an allergic reaction. TREATMENT In order to avoid stomach upset, you can take phenylpropanolamine, phenylephrine, and brompheniramine combination with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The oral elixir form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The sustained-release tablets should be swallowed whole. Breaking, chewing, or crushing these tablets destroys their sustained-release activity and may increase the side effects. If you miss a dose of this medication, take it as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Anxiety; blurred vision; constipation; diarrhea; dizziness; drowsiness; dry mouth, nose, and throat; heartburn; insomnia; irritability; loss of appetite; nasal congestion; nausea; restlessness; decreased sweating; vomiting; or weakness. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), and drink more water (unless your doctor directs you to do otherwise). This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps, wear protective clothing, and use an effective sunscreen. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. In order to avoid difficulty in falling asleep, take the last dose of this medication several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, convulsions, difficult or painful urination, difficulty in breathing, fainting, hallucinations, headaches, loss of coordination, mood changes, nosebleeds, palpitations, rash, severe abdominal pain, sore throat, or unusual bleeding or bruising. INTERACTIONS This drug interacts with several other medications: 1. Concurrent use of it with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine and tricyclic antidepressants can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The side effects of the antihistamine part of this medication may be increased by quinidine, procainamide, haloperidol, and phenothiazine tranquilizers; and the side effects of the decongestant component may be increased by digoxin or by over-the-counter (nonprescription) allergy, asthma, cough, cold, diet, or sinus preparations. 4. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to brompheniramine, to other antihistamines (such as azatadine, chlorpheniramine, carbinoxamine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine), or to phenylpropanolamine, phenylephrine, or other adrenergic agents (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, pseudoephedrine, and terbutaline). * Tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, glaucoma, heart or blood vessel disease, hiatal hernia, high blood pressure, myasthenia gravis, obstructed bladder or intestinal tract, peptic ulcers, enlarged prostate gland, or thyroid disease. * Because this drug can reduce sweating and heat release from the body, avoid excessive work and exercise in hot weather, and do not take hot baths, showers, and saunas. * This medication can cause drowsiness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Be sure to tell your doctor if you are pregnant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Dimetapp Extentabs 0329001.scf phenylpropanolamine, phenylephrine, and bromphen...mine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials > pagetitle phenylpropanolamine, phenylephrine, and brompheniramine combination 03291.TXT Copyright (C) 1993 Publications International, Ltd. phenylpropanolamine, phenylephrine, chlorpheniramine, and phenyltoloxamine combination _________________________ BRAND NAMES (Manufacturers) Amaril D Spantab (Vortech) decongestabs (various manufacturers) Naldecon (Bristol) naldelate (various manufacturers) Nalgest (Major) New-Decongest (Goldline) Tri-Phen-Chlor (Rugby) TYPE OF DRUG Adrenergic (decongestant) and antihistamine INGREDIENTS phenylpropanolamine, phenylephrine, chlorpheniramine, and phenyltoloxamine DOSAGE FORMS Sustained-release tablets (40 mg phenylpropanolamine, 10 mg phenylephrine, 5 mg chlorpheniramine, and 15 mg phenyltoloxamine) Sustained-release capsules (50 mg phenylpropanolamine, 25 mg phenylephrine, 12 mg chlorpheniramine, and 30 mg phenyltoloxamine) Oral syrup (20 mg phenylpropanolamine, 5 mg phenylephrine, 2.5 mg chlorpheniramine, and 7.5 mg phenyltoloxamine per 5-ml spoonful) Oral pediatric drops (5 mg phenylpropanolamine, 1.25 mg phenylephrine, 0.5 mg chlorpheniramine, and 2 mg phenyltoloxamine per ml) STORAGE Store at room temperature in a tightly closed container. This medication should never be frozen. This drug combination is used to relieve symptoms of upper respiratory tract infections, hay fever and other allergies, and sinusitis (inflammation of the sinuses). Phenylpropanolamine and phenylephrine belong to a group of drugs known as adrenergic agents (decongestants). They act by constricting (narrowing) blood vessels in the nasal passages, thereby reducing swelling and congestion. Chlorpheniramine and phenyltoloxamine belong to a group of drugs known as antihistamines, which block the actions of histamine, a chemical released by the body during an allergic reaction. They are, therefore, used to relieve or prevent the symptoms of allergy. TREATMENT In order to avoid stomach upset, you can take phenylpropanolamine, phenylephrine, chlorpheniramine, and phenyltoloxamine combination with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The oral pediatric drops should be measured carefully. The oral syrup form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough for measuring your dosage of this medication. The sustained-release tablets and capsules should be swallowed whole. Breaking, chewing, or crushing them destroys their sustained-release activity and may increase the side effects. If you miss a dose, take it as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Anxiety; blurred vision; constipation; diarrhea; dizziness; drowsiness; dry mouth, nose, and throat; heartburn; insomnia; irritability; loss of appetite; nasal congestion; reduced sweating; restlessness; vomiting; or weakness. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps, wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you experience dry mouth or throat, you should try chewing sugarless gum or sucking on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. In order to avoid difficulty in falling asleep, take the last dose of this medication several hours before bedtime. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, convulsions, difficult or painful urination, difficulty in breathing, fainting, hallucinations, headaches, loss of coordination, mood changes, nosebleeds, palpitations, rash, severe abdominal pain, sore throat, or unusual bleeding or bruising. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of this medication with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, or tranylcypromine and tricyclic antidepressants can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The side effects of the antihistamine part of this medication may be increased by quinidine, procainamide, haloperidol, and phenothiazine tranquilizers; and the side effects of the decongestant component may be increased by digoxin or by over-the-counter (nonprescription) allergy, asthma, cough, cold, diet, or sinus preparations. 4. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to chlorpheniramine, phenyltoloxamine, or any other antihistamine (such as azatadine, brompheniramine, carbinoxamine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine), or to phenylpropanolamine, phenylephrine, or any other adrenergic agent (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, pseudoephedrine, and terbutaline). * Tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, glaucoma, heart or blood vessel disease, hiatal hernia, high blood pressure, myasthenia gravis, obstructed bladder or intestinal tract, peptic ulcers, enlarged prostate gland, or thyroid disease. * Because this drug can reduce sweating and heat release from the body, you should avoid excessive work or exercise in hot weather and you should not take hot baths, showers, and saunas while taking this medication. * This medication can cause drowsiness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Naldecon 0329101.scf phenylpropanolamine, phenylephrine, chlorpheniram..., and phenyltoloxamine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials h"pagetitle phenylpropanolamine, phenylephrine, chlorpheniramine, and phenyltoloxamine combination 03292.TXT Copyright (C) 1993 Publications International, Ltd. phenytoin _________________________ BRAND NAMES (Manufacturers) Dilantin (Parke-Davis) Dilantin Infatab (Parke-Davis) Dilantin Kapseal (Parke-Davis) Diphenylan (Lannett) phenytoin (various manufacturers) TYPE OF DRUG Anticonvulsant INGREDIENT phenytoin DOSAGE FORMS Capsules (30 mg and 100 mg) Chewable tablets (50 mg) Oral suspension (30 mg and 125 mg per 5-ml spoonful, with 0.6% alcohol) STORAGE Phenytoin capsules, tablets, and oral suspension should be stored at room temperature in tightly closed, light-resistant containers. This medication should never be frozen. Phenytoin is used to control certain types of convulsions, or seizures. It is not clear exactly how phenytoin works to control convulsions, but it appears to prevent the spread of seizure activity in the brain. Phenytoin may also be used to treat other conditions as determined by your physician. TREATMENT To avoid stomach irritation and increase this drug's absorption, take phenytoin with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). The tablet form of this medication should be chewed before swallowing. The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. Phenytoin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are taking three doses a day, the doses should be spaced eight hours apart. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss two or more doses in a row, contact your doctor. SIDE EFFECTS Minor. Constipation, drowsiness (mild), headache, insomnia, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, chest pain, confusion, dizziness, change in facial features, gum enlargement, increased hair growth, joint pain, muscle twitching, nervousness, numbness, rash, slurred speech, sore throat, swollen glands, uncoordinated movements, unusual bleeding or bruising, change in the color of your urine, or yellowing of the eyes or skin. INTERACTIONS Phenytoin interacts with a number of other types of drugs: 1. The effectiveness of phenytoin can be decreased by concurrent use of alcohol, barbiturates, folic acid, tricyclic anti-depressants, reserpine, molindone, benzodiazepine tranquilizers, chloral hydrate, rifampin, phenothiazine tranquilizers, and haloperidol. 2. Phenytoin can decrease the effectiveness of calcifediol, warfarin, quinidine, disopyramide, dexamethasone, doxycycline, levodopa, and oral contraceptives. 3. The active blood levels and side effects of phenytoin can be increased by chloramphenicol, cimetidine, warfarin, disulfiram, isoniazid, oxyphenbutazone, phenylbutazone, ibuprofen, amiodarone, trimethoprim, sulfonamide antibiotics, tolbutamide, chlordiazepoxide, chlorpromazine, diazepam, estrogens, ethosuximide, methylphenidate, and prochlorperazine. 4. Valproic acid can either increase or decrease the effects of phenytoin. 5. The dosage of oral antidiabetic medications may need to be adjusted when phenytoin is started. 6. Phenytoin may decrease the absorption of furosemide from the gastrointestinal tract, decreasing its effectiveness. 7. Antacids, calcium, oxacillin, sucralfate, medicines for diarrhea, and antineoplastics (anticancer drugs) may decrease the gastrointestinal absorption and effectiveness of phenytoin. Do not take phenytoin within two to three hours of taking an antacid or antidiarrheal. Before starting to take phenytoin, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to phenytoin, ethotoin, or mephenytoin. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders, diabetes mellitus, or liver disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Children should be careful while playing. * Before surgery or other medical or dental treatment, tell your doctor or dentist you are taking phenytoin. * Do not stop taking this medication unless you first consult your doctor. If this drug is stopped abruptly, you may experience uncontrollable seizures. Your doctor may, therefore, want to reduce your dosage gradually. Be sure you have enough on hand for holidays and vacations. * Although several generic versions of this drug are available, you should not switch from one brand to another without your doctor's careful assessment and complete approval. If you have your medication refilled and it looks different, be sure to consult with your pharmacist. * Therapy with phenytoin may cause your gums to enlarge enough to cover your teeth. This can be minimized, at least partially, by frequent brushing and massaging of the gums with the rubber tip of a good toothbrush. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported more often in infants whose mothers have seizure disorders. It is unclear if the increased risk of birth defects is associated with the seizure disorders or with the anticonvulsant medications, such as phenytoin, that are used to treat them. Discuss this with your doctor. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Dilantin Kapseal 0329201.scf phenytoin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle phenytoin 03293.TXT Copyright (C) 1993 Publications International, Ltd. pilocarpine (ophthalmic) _________________________ BRAND NAMES (Manufacturers) Adsorbocarpine (Alcon) Akarpine (Akorn) Isopto Carpine (Alcon) Ocusert Pilo-20 (Alza) Ocusert Pilo-40 (Alza) Pilocar (Iolab Pharm.) pilocarpine hydrochloride (various manufacturers) TYPE OF DRUG Antiglaucoma ophthalmic solution INGREDIENT pilocarpine DOSAGE FORMS Ophthalmic drops (0.25%, 0.5%, 1%, 2%, 3%, 4%, 5%, 6%, 8%, and 10%) Ocular therapeutic system (oval ring of plastic that contains pilocarpine. The ring is placed in the eye, and the drug is released gradually over a period of seven days.) STORAGE Pilocarpine eye drops should be stored at room temperature in a tightly closed container. This medication should never be frozen. If it discolors or turns brown, it should be discarded. A color change signifies a loss of potency. The ocular therapeutic system form of this medication should be stored in the refrigerator in its original container. Pilocarpine (ophthalmic) is used to reduce the increased pressure in the eye caused by glaucoma or other eye conditions. When pilocarpine is applied to the eye, it constricts the pupil and increases the flow of fluid (aqueous humor) out of the eye, thereby reducing the pressure. TREATMENT Wash your hands with soap and water before applying this medication. In order to avoid contamination of the eye drops, be careful not to touch the tube portion of the dropper or let it touch your eye; DO NOT wipe off or rinse the dropper after you use it. To apply the eye drops, tilt your head back and pull down your lower eyelid with one hand to make a pouch below the eye. Drop the prescribed amount of medicine into this pouch and slowly close your eyes. Try not to blink. Keep your eyes closed, and place one finger at the corner of the eye next to your nose for a minute or two, applying a slight pressure (to prevent loss of medication through the duct that drains fluid from the surface of the eye into the nose and throat). Wipe away any excess with a clean tissue. If you think the medicine did not get into the eye, repeat the process once. Since the drops are somewhat difficult to apply, you may want someone to apply them for you. If more than one type of eye drop has been prescribed, wait at least five minutes after instilling pilocarpine before using any other eye medicine (this is done in order to give the pilocarpine a chance to work). The ocular therapeutic system comes packaged with detailed instructions for insertion and removal. Follow these directions carefully. Damaged or deformed ocular therapeutic systems should not be placed or retained in the eye. Use a new system instead. If you miss a dose of this medication, apply the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not apply the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, browache, headache, or twitching of the eyelids. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about diarrhea, difficult or painful urination, flushing, muscle tremors, nausea, nearsightedness, palpitations, shortness of breath, stomach cramps, or sweating. INTERACTIONS This medication should not interact with other drugs as long as it is applied according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to pilocarpine. * Tell your doctor if you now have or if you have ever had asthma, epilepsy, heart disease, peptic ulcers, thyroid disease, Parkinson's disease, or blockage of the urinary tract. * This drug can cause difficulty in adjusting to low light levels. Caution should be exercised during night driving and while performing hazardous tasks in poor light. * Be sure to tell your doctor if you are pregnant. The effects of this drug during pregnancy have not been thoroughly studied in humans, but small amounts of pilocarpine may be absorbed into the bloodstream. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pilocarpine (ophthalmic) the pagetitle pilocarpine (ophthalmic) 03294.TXT Copyright (C) 1993 Publications International, Ltd. pindolol _________________________ BRAND NAME (Manufacturer) Visken (Sandoz) TYPE OF DRUG Beta-adrenergic blocking agent INGREDIENT pindolol DOSAGE FORM Tablets (5 mg and 10 mg) STORAGE Pindolol should be stored at room temperature in a tightly closed, light-resistant container. Pindolol is used to treat high blood pressure. It belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. These drugs work by controlling nerve impulses along certain nerve pathways. TREATMENT This medicine can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach (depending on your doctor's instructions). Try to take the medication at the same time(s) each day. Try not to miss any doses of this medicine. If you do miss a dose, take the missed dose as soon as possible, unless it is within eight hours (if you are taking this medicine once a day) or within four hours (if you are taking this medicine more than once a day) of your next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Pindolol does not cure high blood pressure, but it will help to control the condition as long as you take it. SIDE EFFECTS Minor. Anxiety; constipation; decreased sexual ability; diarrhea; difficulty in sleeping; drowsiness; dryness of the eyes, mouth, and skin; headache; nausea; tiredness; or weakness. These effects should disappear as you adjust to the drug. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) unless your doctor directs you to do otherwise. If you are extra-sensitive to the cold, be sure to dress warmly during cold weather. Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. Sucking on ice chips or chewing sugarless gum helps to relieve mouth or throat dryness. Major. Tell your doctor about any side effects that are persistent or bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about cold hands or feet (due to decreased blood circulation to skin, fingers, and toes), confusion, dizziness, fever and sore throat, hair loss, hallucinations, light-headedness, mental depression, nightmares, numbness or tingling of the fingers or toes, rapid weight gain (three to five pounds within a week), reduced alertness, skin rash, swelling, unusual bleeding or bruising, or wheezing or difficulty in breathing. INTERACTIONS Pindolol interacts with a number of other types of drugs: 1. Indomethacin, aspirin, or other salicylates may decrease the blood-pressure-lowering effects of the beta blockers. 2. Concurrent use of beta blockers and calcium channel blockers (diltiazem, nifedipine, or verapamil) or disopyramide can lead to heart failure or very low blood pressure. 3. Cimetidine and oral contraceptives (birth control pills) can increase the blood concentrations of pindolol, which can result in greater side effects. 4. Side effects may also be increased when beta blockers are taken with clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate use of a beta blocker and the use of an MAO inhibitor. 5. Beta blockers may antagonize (work against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 6. Beta blockers can also interact with insulin or oral antidiabetic agents, raising or lowering blood sugar levels or masking the symptoms of low blood sugar. 7. The concurrent use of pindolol and reserpine can have additive blood-pressure-lowering effects. 8. The action of beta blockers may be increased if they are used with chlorpromazine, furosemide, or hydralazine. 9. Alcohol, barbiturates, and rifampin can decrease the blood concentrations of pindolol, which can result in a decrease in effectiveness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Before starting to take this drug, it is important to tell your doctor if you have ever had unusual or allergic reactions to any beta-blocking medication (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, propranolol, or timolol). * Tell your doctor if you now have or if you have ever had allergies, asthma, hay fever, eczema, slow heartbeat, bronchitis, diabetes mellitus, emphysema, heart or blood vessel disease, kidney disease, liver disease, thyroid disease, or poor circulation in the fingers or toes. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * This medicine may affect your body's response to exercise. Make sure you discuss with your doctor a safe amount of exercise for your medical condition. * It is important that you do not stop taking this medicine unless you first check with your doctor. Some conditions may become worse when the medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may want you to reduce gradually the amount of medicine you take before stopping completely. Make sure that you have enough medicine on hand to last through vacations, holidays, and weekends. * Before having surgery or any other medical or dental treatment, tell your physician or dentist that you are taking pindolol. Often, this medication will be discontinued 48 hours prior to any major surgery. * Pindolol can cause dizziness, drowsiness, light-headedness, or decreased alertness. Exercise caution while driving a car or using potentially dangerous machinery. * While taking this medicine, do not use any over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, or diet preparations unless you first check with your pharmacist or doctor. Some of these medicines can result in high blood pressure if taken in conjunction with a beta blocker. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. Adequate studies have not been conducted in humans, but there has been some association between beta blockers used during pregnancy and low birth weight, as well as breathing problems and slow heart rate in newborn infants. However, other reports have shown no effects on newborn infants. Also, tell your doctor if you are breast-feeding. Although pindolol has not been shown to cause problems in breast-fed infants, some of the medicine may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pindolol phe pagetitle pindolol 03263.TXT Copyright (C) 1993 Publications International, Ltd. oxazepam _________________________ BRAND NAME (Manufacturer) Serax (Wyeth-Ayerst) TYPE OF DRUG Benzodiazepine sedative/hypnotic INGREDIENT oxazepam DOSAGE FORMS Capsules (10 mg, 15 mg, and 30 mg) Tablets (15 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Oxazepam is prescribed to treat symptoms of anxiety and sometimes to treat anxiety associated with depression or alcohol withdrawal. It is not clear exactly how this medicine works, but this medication may relieve anxiety by acting as a depressant of the central nervous system (brain and spinal cord). Oxazepam is currently used by many people to relieve nervousness. This medication is very effective for this purpose when used for short periods, however it is important to attempt to remove the cause of the anxiety as well. TREATMENT This medication should be taken exactly as directed by your doctor. It can be taken with food or a full glass of water if stomach upset occurs. Do not take oxazepam with a dose of antacids, since they may slow its absorption. If you are taking this drug regularly and you miss a dose, take the missed dose immediately if remembered within an hour. If more than an hour has passed, skip the dose you missed and wait for the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Bitter taste in the mouth, constipation, depression, diarrhea, dizziness, drowsiness (after a night's sleep), dry mouth, excessive salivation, fatigue, flushing, headache, heartburn, loss of appetite, nausea, nervousness, sweating, or vomiting. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, difficulty in urinating, fainting, falling, fever, hallucinations, joint pain, mouth sores, nightmares, palpitations, rash, severe depression, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS Oxazepam interacts with several other types of medications: 1. To prevent oversedation, this drug should not be taken with alcohol, other sedative drugs, or central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, medicines for seizures, and phenothiazine tranquilizers) or with antidepressants. 2. This medication may decrease the effectiveness of carbamazepine, levodopa, and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 3. Disulfiram and isoniazid can increase the blood levels of oxazepam, which can lead to toxic effects. 4. Concurrent use of rifampin may decrease the effectiveness of oxazepam. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to oxazepam or other benzodiazepine tranquilizers (such as alprazolam, chlordiazepoxide, clorazepate, diazepam, flurazepam, halazepam, lorazepam, midazolam, prazepam, temazepam, or triazolam). * Tell your doctor if you have ever had kidney, liver, or lung disease; epilepsy; myasthenia gravis; porphyria; or mental illness or depression. * This medicine can cause drowsiness. Avoid tasks that require mental alertness, such as driving a car or using potentially dangerous machinery. * Oxazepam has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage without first consulting your doctor. It is also important not to stop taking this drug suddenly if you have been taking it in large amounts, or if you have used it for several weeks. Your doctor may want to reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects can develop. * Be sure to tell your doctor if you are pregnant. This medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. Too much use of this medicine during the last six months of pregnancy may cause the baby to become dependent on it. Use of this medicine during the last weeks of pregnancy may cause unwanted side effects in the newborn. Tell your doctor if you are breast-feeding. Oxazepam may pass into breast milk and cause unwanted side effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Serax 0326301.scf oxazepamO logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle oxazepam 03264.TXT Copyright (C) 1993 Publications International, Ltd. oxtriphylline _________________________ BRAND NAMES (Manufacturers) Choledyl (Parke-Davis) Choledyl SA (Parke-Davis) oxtriphylline (various manufacturers) TYPE OF DRUG Bronchodilator INGREDIENT oxtriphylline DOSAGE FORMS Tablets (100 mg and 200 mg) Sustained-release tablets (400 mg and 600 mg) Oral pediatric liquid (50 mg per 5-ml spoonful) Oral elixir (100 mg per 5-ml spoonful, with 20% alcohol) STORAGE Oxtriphylline tablets, liquid, and elixir should be stored at room temperature in tightly closed containers. This medication should never be frozen. This medication is used to treat breathing problems (wheezing and shortness of breath) caused by asthma, bronchitis, or emphysema. It relaxes the smooth muscle of the bronchial airways (breathing tubes), which opens the air passages to the lungs and allows air to move in and out more easily. TREATMENT Oxtriphylline should be taken on an empty stomach 30 to 60 minutes before or two hours after a meal. If this medication causes stomach irritation, however, you can take it with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). Antidiarrheal medications prevent the absorption of oxtriphylline. Therefore, at least one hour should separate doses of these two types of medications. The sustained-release tablets should be swallowed whole (if the tablet is scored for breaking, you can break it along these lines). Chewing, crushing, or crumbling the tablets destroys their sustained-release activity and possibly increases the side effects. Each dose of the oral liquid should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Oxtriphylline works best when the level of the medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, dizziness, flushing, headache, heartburn, increased urination, insomnia, irritability, loss of appetite, nausea, nervousness, stomach pain, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; confusion; convulsions; difficulty in breathing; fainting; muscle twitches; palpitations; rash; severe abdominal pain; or unusual weakness. INTERACTIONS Oxtriphylline interacts with several other types of drugs: 1. It can increase the diuretic effects of furosemide. 2. Reserpine, in combination with oxtriphylline, can cause a rapid heart rate. 3. Beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, timolol) can block the effectiveness of oxtriphylline. 4. Phenobarbital and rifampin can increase the elimination of oxtriphylline from the body, decreasing its effectiveness. 5. Cimetidine, erythromycin, oral contraceptives (birth control pills), troleandomycin, allopurinol, and thiabendazole can decrease the elimination of oxtriphylline from the body, increasing its side effects. Before you start to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS Tell your doctor about unusual or allergic reactions you have had to any medications, especially to oxtriphylline, aminophylline, caffeine, dyphylline, theophylline, or theobromine. Tell your doctor if you now have or if you have ever had fibrocystic breast disease, heart disease, kidney disease, low or high blood pressure, liver disease, stomach ulcers, thyroid disease, or an enlarged prostate gland. Cigarette or marijuana smoking may affect this drug's action. BE SURE TO TELL YOUR DOCTOR if you smoke. Also, do not suddenly stop smoking without informing your doctor. High fever, diarrhea, the flu, and influenza vaccinations can also affect the actions of this drug. Therefore, tell your doctor about episodes of high fever or prolonged diarrhea. Before having any vaccinations, especially those to prevent the flu, be sure to tell the person administering the vaccine that you are taking this medication. Avoid drinking large amounts of caffeine-containing beverages (coffee, cocoa, tea, and cola drinks), and avoid eating large amounts of chocolate. These products may increase the side effects of oxtriphylline. Do not change your diet without first consulting your doctor. The action of this drug may be affected by charbroiled foods or a high-protein, low-carbohydrate diet. Before having surgery or other medical or dental treatment, be sure to tell your doctor or dentist about this drug. Before taking any over-the-counter (nonprescription) asthma, allergy, cough, cold, sinus, or diet medication, ask your doctor or pharmacist whether it will interact with oxtriphylline. These products may add to the side effects of oxtriphylline. Be sure to tell your doctor if you are pregnant. Although oxtriphylline appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of oxtriphylline pass into breast milk and may cause irritability, fretfulness, or insomnia in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. oxtriphylline pagetitle oxtriphylline 03265.TXT Copyright (C) 1993 Publications International, Ltd. oxybutynin _________________________ BRAND NAME (Manufacturer) Ditropan (Marion) TYPE OF DRUG Antispasmodic INGREDIENT oxybutynin DOSAGE FORMS Tablets (5 mg) Oral syrup (5 mg per 5-ml spoonful) STORAGE Oxybutynin tablets and syrup should be stored at room temperature in tightly closed containers. Oxybutynin is used to relieve the symptoms associated with urinary incontinence (inability to control the bladder) or urinary frequency. TREATMENT Oxybutynin can be taken either on an empty stomach with water only or, to reduce stomach irritation, with food or milk (as directed by your doctor). Each dose of the oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; return to your regular dosing schedule. Do not double the dose. SIDE EFFECTS Minor. Bloating, blurred vision, constipation, decreased sweating, dizziness, drowsiness, dry mouth, insomnia, nausea, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. This medication can also cause increased sensitivity of your eyes to sunlight. Sunglasses may help relieve the discomfort caused by bright lights. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To help relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about decreased sexual ability, difficult or painful urination, eye pain, itching, palpitations, or skin rash. INTERACTIONS Oxybutynin should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to oxybutynin. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had bleeding disorders, glaucoma, heart disease, hiatal hernia, high blood pressure, intestinal blockage, kidney disease, liver disease, myasthenia gravis, enlarged prostate gland, thyroid disease, toxemia of pregnancy, ulcerative colitis, or urinary retention. * If this drug makes you dizzy or blurs your vision, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * This medication can decrease sweating and heat release from the body. You should, therefore, try not to become overheated (avoid strenuous exercise in hot weather, and do not take hot baths, showers, and saunas). * Be sure to tell your doctor if you are pregnant. Although oxybutynin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding. This drug may decrease milk production. It is not known whether oxybutynin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. oxybutyninomac7 pagetitle oxybutynin 03266.TXT Copyright (C) 1993 Publications International, Ltd. oxytetracycline _________________________ BRAND NAMES (Manufacturers) E.P. Mycin (Edwards) oxytetracycline hydrochloride (various manufacturers) Terramycin (Pfizer) Uri-Tet (American Urologicals) TYPE OF DRUG Tetracycline antibiotic INGREDIENT oxytetracycline DOSAGE FORMS Tablets (250 mg) Capsules (250 mg) STORAGE Oxytetracycline should be stored at room temperature in a tightly closed, light-resistant container. Oxytetracycline is used to treat acne and a wide variety of bacterial infections. It acts by inhibiting the growth of bacteria. Bacteria may be partly responsible for the development of acne lesions. Oxytetracycline kills bacteria, but it is not effective against viruses or fungi. TREATMENT Ideally, this medication should be taken on an empty stomach one hour before or two hours after a meal. It should be taken with a full glass of water in order to avoid irritation of the throat or esophagus (tube leading to the stomach). If this drug causes stomach upset, however, you can take it with food or water (unless your doctor directs otherwise). Avoid consuming any dairy products, including milk and cheese, within two hours of any dose of this drug. Avoid taking antacids or laxatives containing aluminum, calcium, or magnesium within an hour or two of a dose. Avoid taking any medication containing iron within three hours of a dose. These products chemically bind oxytetracycline and prevent the drug from being absorbed into the body. Oxytetracycline works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular dosing schedule. Try not to skip any doses of this medication. It is important to continue to take this medication for the entire time prescribed by your doctor, even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, dizziness, loss of appetite, nausea, stomach cramps and upset, vomiting, or discoloration of the nails. These side effects should disappear as your body adjusts to the medication. Oxytetracycline can increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, joint pain, mouth irritation, rash, rectal or vaginal itching, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, contact your doctor. INTERACTIONS Oxytetracycline interacts with several other types of drugs: 1. It can increase the absorption of digoxin, which may lead to digoxin toxicity. 2. The gastrointestinal side effects (nausea, vomiting, stomach upset) of theophylline may be increased by oxytetracycline. 3. The dosage of oral anticoagulants (blood thinners, such as warfarin) may need to be adjusted when this medication is started. 4. Oxytetracycline may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use another form of birth control while taking oxytetracycline. Consult your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to oxytetracycline or to tetracycline, doxycycline, or minocycline. * Tell your doctor if you now have or if you have ever had kidney or liver disease. * Oxytetracycline can affect tests for syphilis; tell your doctor you are taking this medication if you are also being treated for this disease. * Make sure that your prescription for oxytetracycline is marked with the expiration date. The drug should be discarded after the expiration date. If the medication is used after it has expired, serious side effects (especially to the kidneys) could result. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. Therefore, you should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant or if you are breast-feeding an infant. Oxytetracycline crosses the placenta and passes into breast milk. This medication can cause permanent discoloration of the teeth and can inhibit tooth and bone growth if used during their development. In addition, oxytetracycline should not be used for infants or for children less than eight years of age because of the potential risks involved. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. oxytetracycline pagetitle oxytetracycline 03267.TXT Copyright (C) 1993 Publications International, Ltd. pancreatin _________________________ BRAND NAMES (Manufacturers) Pancreatin Enseals [*] (Lilly) Pancreatin Tablets [*] (Lilly) * Available over-the-counter (without a prescription) TYPE OF DRUG Digestive enzymes INGREDIENTS pancreatin, lipase, protease, and amylase DOSAGE FORMS Pancreatin Tablets (pancreatin 325 mg; lipase 650 units; protease 8,125 units; amylase 8,125 units) Pancreatin Enseals (pancreatin 1000 mg; lipase 2000 units; protease 25,000 units; amylase 25,000 units) STORAGE Store at room temperature in a tightly closed container. This medication is a combination of specific digestive (pancreatic) enzymes obtained from pigs or cows. These enzymes aid in the digestion and absorption of fats and starch. Pancreatin is used in the treatment of various pancreatic enzyme deficiencies resulting from conditions such as pancreatitis, cystic fibrosis, or gastrointestinal bypass surgery. TREATMENT In order to obtain the maximum benefit from this medication, you should take pancreatin just before or with meals or snacks. The tablets can be crushed and mixed with food. If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, nausea, or stomach cramps. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody urine, hives, joint pain, skin rash, or swelling of the feet or legs. INTERACTIONS Pancreatin can decrease the absorption of iron from the gastrointestinal tract, which may lead to nutritional deficiency. Your doctor may want to prescribe iron supplements if this becomes a problem. Cimetidine or antacids are often prescribed concurrently with pancreatin in order to maximize its effectiveness. However, calcium- or magnesium-containing antacids should be avoided--they decrease this medication's effectiveness. You should discuss these effects with your doctor. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to pancreatin, pancrelipase, or any other digestive enzymes. * Patients who have allergies to pork or beef products may also be allergic to pancreatin, since it is obtained from pigs and cows. * Be sure to tell your doctor if you are pregnant. Although pancreatin appears to be safe during pregnancy, extensive studies have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether pancreatin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pancreatin pagetitle pancreatin 03268.TXT Copyright (C) 1993 Publications International, Ltd. pancrelipase _________________________ BRAND NAMES (Manufacturers) Cotazym-S (Organon) Festal II [*] (Hoechst-Roussel) Ilozyme (Adria) Ku-Zyme HP (Kremers-Urban) Pancrease (McNeil) Viokase (Robins) * Available over-the-counter (without a prescription) TYPE OF DRUG Digestive enzymes INGREDIENTS lipase, protease, and amylase DOSAGE FORMS Tablets (in various strengths) Capsules (in various strengths) Powder packets (in various strengths) STORAGE Pancrelipase tablets, capsules, and powder should be stored at room temperature in tightly closed containers. This medication is a combination of digestive (pancreatic) enzymes obtained from pigs. These enzymes aid in the digestion and absorption of starch and fats. Pancrelipase is used to treat pancreatic enzyme deficiencies resulting from conditions such as pancreatitis, cystic fibrosis, or gastrointestinal bypass surgery. TREATMENT In order to obtain the maximum benefit, you should take pancrelipase just before or with meals or snacks. The powder can be added to food; the tablets can also be crushed and mixed with food. If you are taking the capsules containing the enteric-coated microspheres, swallow the capsule whole. Chewing, crushing, or breaking the capsules decreases their effectiveness and increases the side effects. However, if you have difficulty swallowing the capsules, you can open them and sprinkle the contents on a small amount of liquid or soft food, which you should then swallow without chewing. DO NOT mix this medication with alkaline foods (such as dairy products) they can reduce its effectiveness. If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, nausea, or stomach cramps. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody urine, hives, joint pain, skin rash, or swelling of the feet. INTERACTIONS Pancrelipase can decrease the absorption of iron from the gastrointestinal tract, which may lead to nutritional deficiency. Your doctor may want to prescribe iron supplements if this becomes a problem. Cimetidine or antacids are often prescribed concurrently with pancrelipase, in order to maximize its effectiveness. However, calcium- or magnesium-containing antacids should be avoided--they decrease this medication's effectiveness. You should discuss these effects with your doctor. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to pancrelipase, pancreatin, or any other digestive enzymes. * Patients who have allergies to pork products may also be allergic to pancrelipase, since it is obtained from pigs. * The powder form and the powder from opened capsules of this medication can be very irritating to the nose and throat. Avoid inhaling the particles. * Be sure to tell your doctor if you are pregnant. Although pancrelipase appears to be safe during pregnancy, extensive studies have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether pancrelipase passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pancrelipasewarf pagetitle pancrelipase 03269.TXT Copyright (C) 1993 Publications International, Ltd. papaverine _________________________ BRAND NAMES (Manufacturers) Cerespan (Rorer) papaverine hydrochloride (various manufacturers) Pavabid HP Capsulet (Marion) Pavabid Plateau (Marion) Pavacen Cenules (Central) Pavagen (Rugby) Pavarine Spancaps (Vortech) Pavased (Hauck) Pavatym (Everett) Paverolan Lanacaps (Lannett) TYPE OF DRUG Vasodilator INGREDIENT papaverine DOSAGE FORMS Tablets (30 mg, 60 mg, 100 mg, 150 mg, 200 mg, and 300 mg) Sustained-release capsules (150 mg) Sustained-release tablets (200 mg) STORAGE Papaverine should be stored at room temperature in a tightly closed container. Papaverine is used to treat circulation disorders. It is a vasodilator that acts directly on the muscle tissues of blood vessels to increase blood supply. TREATMENT In order to avoid stomach irritation, you can take papaverine with food or with a full glass of water or milk. Ask your doctor if you can take it with an antacid. The sustained-release capsules should be swallowed whole. Breaking, crushing, or chewing these capsules destroys their sustained-release activity and possibly increases the side effects. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal distress, blurred vision, constipation, diarrhea, dizziness, drowsiness, fatigue, flushing, headache, loss of appetite, nausea, or sweating. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about depression, difficulty in breathing, palpitations, rash, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Concurrent use of papaverine and levodopa can lead to decreased effectiveness of levodopa. Before starting to take papaverine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially levodopa. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to papaverine. * Be sure to tell your doctor if you have ever had angina, glaucoma, heart block, liver disease, low or high blood pressure, a heart attack, or Parkinson's disease. * A government panel has recently reviewed the effectiveness of this medication in the treatment of hardening of the arteries and leg cramps and in the prevention of stroke. This drug may not be as effective as once thought. * Before taking any over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, or diet medication, check with your doctor or pharmacist. Some of these products can decrease the effectiveness of papaverine. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * The beneficial effects of this medication may be decreased by the nicotine in cigarettes. * To prevent dizziness and fainting while taking this medication, avoid drinking large quantities of alcohol, and try not to get overheated (avoid strenuous exercise in hot weather and do not take hot baths, showers, and saunas). * Be sure to tell your doctor if you are pregnant. Although papaverine appears to be safe, extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding. It is not known whether papaverine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. papaverinefena pagetitle papaverine 03270.TXT Copyright (C) 1993 Publications International, Ltd. pemoline _________________________ BRAND NAME (Manufacturer) Cylert (Abbott) TYPE OF DRUG Stimulant INGREDIENT pemoline DOSAGE FORMS Tablets (18.75 mg, 37.5 mg, and 75 mg) Chewable tablets (37.5 mg) STORAGE Pemoline should be stored at room temperature in a tightly closed container. Pemoline is a central nervous system (brain and spinal cord) stimulant that is used to treat attention deficit disorders (hyperkinetic syndrome). It is not yet clear how pemoline works to improve behavioral disorders in children, but it seems to decrease hyperactivity and increase attention span. TREATMENT Pemoline can be taken either on an empty stomach or with food or milk (as directed by your doctor). The chewable tablet form of this medication can be either chewed or swallowed whole. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of this medication. You may not observe the full therapeutic benefits of this medication for three to four weeks. SIDE EFFECTS Minor. Dizziness, drowsiness, headache, insomnia, irritability, loss of appetite, nausea, stomachache, or weight loss. These side effects should disappear as your body adjusts to the drug. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about convulsions; depression; hallucinations; palpitations; skin rash; unusual movements of the tongue, lips, face, hands, or feet; or yellowing of the eyes or skin. INTERACTIONS Pemoline should not interact with other medications if it is used according to the directions given to you by your doctor or pharmacist. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to pemoline. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had kidney disease, liver disease, or mental disorders. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Children who are taking this drug should be cautious while playing. * This medication has the potential for abuse and must be used with caution. It should, therefore, not be taken in larger doses or for longer periods than prescribed by your doctor. In addition, you should not stop taking pemoline unless you first check with your doctor. Stopping the drug abruptly can lead to a withdrawal reaction. Your doctor may, therefore, want to reduce the dosage gradually. * Your doctor may want to interrupt pemoline therapy occasionally for short periods ("drug holidays") to see if the symptoms of the attention deficit disorder have disappeared. * Be sure to tell your doctor if you are pregnant. Although pemoline appears to be safe, extensive studies in humans during pregnancy have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether pemoline passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pemolinerenu pagetitle pemoline 03271.TXT Copyright (C) 1993 Publications International, Ltd. penicillamine _________________________ BRAND NAMES (Manufacturers) Cuprimine (Merck Sharp & Dohme) Depen Titratable Tablets (Wallace) TYPE OF DRUG Chelator and antirheumatic INGREDIENT penicillamine DOSAGE FORMS Tablets (250 mg) Capsules (125 mg and 250 mg) STORAGE Store at room temperature in a tightly closed container. This drug is used to treat Wilson's disease (high blood copper levels), severe rheumatoid arthritis, and cystinuria (high urine levels of cystine). Penicillamine binds to copper and cystine, which prevents their harmful effects on the body. It is not clearly understood how penicillamine relieves rheumatoid arthritis. TREATMENT In order to obtain the maximum benefit from penicillamine, you should take it on an empty stomach one hour before or two hours after a meal. To ensure maximal absorption of this drug, each dose should be separated from doses of other medications and from food and milk by at least an hour. If you miss a dose of this drug, take the dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the dose at all; return to your regular dosing schedule. Do not double the dose. The full benefits of this drug may not become apparent for as long as three months after therapy. SIDE EFFECTS Minor. Altered taste sensations, diarrhea, loss of appetite, nausea, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast enlargement (in both sexes), difficult or painful urination, difficulty in breathing, joint pain, loss of hair, mouth sores, ringing in the ears, skin rash, sore throat, tingling sensations in the fingers or toes, unusual bleeding or bruising, or wheezing. INTERACTIONS Penicillamine interacts with several other types of medications: 1. The absorption of penicillamine from the gastrointestinal tract can be decreased by iron or antacids. 2. Penicillamine can decrease the blood levels and beneficial effects of digoxin. 3. Concurrent use of penicillamine and gold salts, hydroxychloroquine, phenylbutazone, oxyphenbutazone, or anticancer drugs can lead to increased side effects to the blood and kidneys. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to penicillamine or penicillin or cephalosporin antibiotics. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders or kidney disease. * Do not stop taking this drug unless you first check with your doctor. * Penicillamine can decrease the body's ability to repair wounds, so try to avoid injuring yourself while you are taking this medication. This warning is especially important for diabetic patients. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this drug. * Your doctor may want you to take pyridoxine (vitamin B) to prevent some of the side effects (for example, tingling sensations) of penicillamine. * Be sure to tell your doctor if you are pregnant. Penicillamine has been reported to cause birth defects in both animals and humans. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. penicillamine pagetitle penicillamine 03272.TXT Copyright (C) 1993 Publications International, Ltd. penicillin VK _________________________ BRAND NAMES (Manufacturers) Beepen-VK (Beecham) Betapen-VK (Bristol) Ledercillin VK (Lederle) penicillin VK (various manufacturers) Pen-Vee K (Wyeth) Robicillin VK (Robins) Suspen (Circle) Uticillin VK (Upjohn) V-Cillin K (Lilly) Veetids (Apothecon) TYPE OF DRUG Penicillin antibiotic INGREDIENT penicillin potassium phenoxymethyl DOSAGE FORMS Tablets (125 mg, 250 mg, and 500 mg) Oral solution (125 mg and 250 mg per 5-ml spoonful) STORAGE Penicillin VK tablets should be stored at room temperature in a tightly closed container. The oral solution should be stored in the refrigerator in a tightly closed container. Any unused portion of the solution should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. Penicillin VK is used to treat a wide variety of bacterial infections, including infections of the middle ear, the respiratory tract, and the urinary tract. It acts by severely injuring the cell membranes of infecting bacteria, thereby preventing them from growing and multiplying. Penicillin VK kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Penicillin VK should be taken on an empty stomach or with a glass of water one hour before or two hours after a meal. This medication should never be taken with fruit juices or carbonated beverages because the acidity of these drinks destroys the drug in the stomach. The oral solution should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Penicillin VK works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are taking four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for the next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular dosing schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms of infection disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloating, chills, cough, darkened tongue, difficulty in breathing, fever, irritation of the mouth, muscle aches, rash, rectal or vaginal itching, severe diarrhea, or sore throat. Also, if the infection seems to be getting worse rather than improving, you should contact your physician. INTERACTIONS Penicillin VK interacts with several other types of drugs: 1. Probenecid can increase the blood concentrations of this medication. 2. Oral neomycin may decrease the absorption of penicillin from the gastrointestinal tract. 3. Penicillin VK may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking this medication. Discuss this with your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to penicillin or other penicillin antibiotics (such as ampicillin and amoxicillin), cephalosporin antibiotics, penicillamine, or griseofulvin. * Tell your doctor if you now have or if you have ever had kidney disease, asthma, or allergies. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking penicillin should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking penicillin, you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although penicillin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of a nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Pen-Vee K 0327201.scfM penicillin VK logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle penicillin VK 03273.TXT Copyright (C) 1993 Publications International, Ltd. pentaerythritol tetranitrate _________________________ BRAND NAMES (Manufacturers) Duotrate Plateau Caps (Jones Medical) Naptrate (Vortech) Pentylan (Lannett) Peritrate (Parke-Davis) Peritrate SA (Parke-Davis) P.E.T.N. (various manufacturers) TYPE OF DRUG Antianginal INGREDIENT pentaerythritol tetranitrate DOSAGE FORMS Tablets (10 mg, 20 mg, 40 mg, and 80 mg) Sustained-release tablets (80 mg) Sustained-release capsules (30 mg, 45 mg, and 80 mg) STORAGE Pentaerythritol tetranitrate should be stored at room temperature in tightly closed containers. This medication loses potency if exposed to heat or moisture. Pentaerythritol tetranitrate is used to prevent angina (chest pain). It dilates (widens) blood vessels, which increases the oxygen supply to the heart, thereby preventing chest pain. It is not effective in relieving pain once an angina attack has begun. TREATMENT To ensure that the maximum amount of medication is absorbed into the bloodstream, you should take pentaerythritol tetranitrate on an empty stomach at least 30 minutes before or one hour after a meal with a glass of water (unless your doctor directs you to do otherwise). The sustained-release tablets or capsules should be swallowed whole. Chewing, crushing, or breaking these tablets or capsules destroys their sustained-release activity and possibly increases the side effects. If you miss a dose of this medication and remember within two hours (six hours for the sustained-release tablets or capsules), take the missed dose immediately and then return to your regular dosing schedule. If more than two hours have passed (six hours for the sustained-release tablets or capsules), do not take the missed dose at all; just return to your regular dosing schedule. Never double the dose (unless your doctor specifically directs you to do so). SIDE EFFECTS Minor. Dizziness, flushing or redness of the face and neck, headache, light-headedness, nausea, or vomiting. These effects should disappear as your body adjusts to the drug. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. The use of acetaminophen may help relieve mild headaches that you may experience when taking this drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fainting, palpitations, or skin rash. INTERACTIONS Alcohol can increase the blood-pressure-lowering effects of pentaerythritol tetranitrate, which can lead to serious side effects. You should, therefore, avoid drinking alcoholic beverages at any time while taking this medication. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to pentaerythritol tetranitrate or to any other nitrate product (such as erythrityl tetranitrate, isosorbide dinitrate, or nitroglycerin). * Before you take this drug, be sure to tell your doctor if you have ever had anemia, a heart attack, or thyroid disease. * If this medication makes you dizzy or light-headed, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Tolerance to this drug can develop after prolonged use. If you begin to notice a decrease in effectiveness, contact your doctor. Do not increase the dosage of this drug unless you first check with your doctor. Also, stopping the drug abruptly can lead to a worsening in your condition. Your doctor may, therefore, want to reduce your dosage gradually. * Before taking any over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, or diet preparation, check with your doctor. Some of these products can reduce the effectiveness of pentaerythritol tetranitrate. * If you find whole or partially dissolved sustained-release tablets or capsules in your stool, contact your doctor. This indicates that you are not digesting and absorbing the tablets or capsules completely. * Be sure to tell your doctor if you are pregnant. Although pentaerythritol tetranitrate appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether pentaerythritol tetranitrate passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pentaerythritol tetranitrateedicI pagetitle pentaerythritol tetranitrate 03274.TXT Copyright (C) 1993 Publications International, Ltd. pentazocine _________________________ BRAND NAME (Manufacturer) Talwin Nx (Winthrop) TYPE OF DRUG Analgesic INGREDIENTS pentazocine and naloxone DOSAGE FORM Tablets (50 mg pentazocine and 0.5 mg naloxone) STORAGE Pentazocine tablets should be stored at room temperature in a tightly closed, light-resistant container. Pentazocine is a narcotic analgesic that acts directly on the central nervous system (brain and spinal cord) to relieve moderate to severe pain. Naloxone is added to this compound to prevent abuse. It is not absorbed from the gastrointestinal tract, but it does block the action of pentazocine if the drug is injected into the body. TREATMENT In order to avoid stomach upset, you can take pentazocine with food or with a full glass of milk or water. This medication works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, rash, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or lying position. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, difficulty in breathing, excitation, fatigue, painful or difficult urination, palpitations, rash, restlessness, sore throat and fever, tremors, or weakness. INTERACTIONS Pentazocine interacts with several other types of drugs: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this drug can lead to unpredictable side effects. 3. The combination of cimetidine and this medication may cause confusion, disorientation, and shortness of breath. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to pentazocine or to other narcotic analgesics (such as codeine, hydrocodone, hydromorphone, meperidine, methadone, morphine, oxycodone, and propoxyphene). * Tell your doctor if you now have or if you have ever had acute abdominal conditions, asthma, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, emotional disorders, enlarged prostate gland, thyroid disease, or urethral stricture. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this product contains pentazocine, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days, unless your doctor directs you to do so. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication, or have been taking it for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating) when you stop taking it. * Be sure to tell your doctor if you are pregnant. The effects of this medication during the early stages of pregnancy have not been thoroughly studied in humans. However, pentazocine, used regularly in large doses during the later stages of pregnancy, may result in addiction of the fetus--leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Talwin Nx 0327401.scf- pentazocine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle pentazocine 03275.TXT Copyright (C) 1993 Publications International, Ltd. pentobarbital _________________________ BRAND NAMES (Manufacturers) Nembutal (Abbott) pentobarbital sodium (various manufacturers) TYPE OF DRUG Sedative/hypnotic INGREDIENT pentobarbital DOSAGE FORMS Capsules (50 mg and 100 mg) Oral elixir (20 mg per 5-ml spoonful, with 18% alcohol) Suppositories (30 mg, 60 mg, 120 mg, and 200 mg) STORAGE Pentobarbital capsules and oral elixir should be stored at room temperature in tightly closed containers. The suppositories should be stored in the refrigerator. Pentobarbital should never be frozen. This medication belongs to a group of drugs known as barbiturates, which are central nervous system (brain and spinal cord) depressants. It is used as a sleeping aid in the treatment of insomnia. TREATMENT You can take pentobarbital at bedtime. The capsules can be taken with water, food, or milk. Each dose of the oral elixir form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The elixir can be taken by itself or mixed with water, milk, or fruit juice. To insert the suppository form of this medication, first unwrap it and moisten it slightly with water (if the suppository is too soft to insert, run cold water over it or refrigerate it for 30 minutes before you unwrap it). Lie down on your left side, with your right knee bent. Push the suppository well into the rectum with your finger. Try to avoid having a bowel movement for at least an hour so that the medication can be absorbed. You should not use this drug as a sleeping aid for more than two weeks. With prolonged use, pentobarbital loses its ability to induce and sustain sleep. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, a "hangover" feeling, headache, nausea, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest tightness, confusion, depression, difficulty in breathing, excitation, fatigue, feeling faint, hives or itching, loss of coordination, muscle or joint pain, skin rash, slurred speech, sore throat, unusual bleeding or bruising, unusual weakness, or yellowing of the eyes or skin. INTERACTIONS Pentobarbital interacts with several other types of drugs: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Valproic acid, chloramphenicol, and monoamine oxidase (MAO) inhibitors can prolong the effects of pentobarbital. 3. Pentobarbital can decrease the blood levels and, therefore, the effectiveness of oral anticoagulants (blood thinners, such as warfarin), digitoxin, tricyclic antidepressants, doxycycline, cortisone-like medicines, metronidazole, quinidine, estrogens, birth control pills, phenytoin, acetaminophen, and carbamazepine. 4. The combination of pentobarbital and furosemide can cause low blood pressure and fainting. 5. Pentobarbital can increase the side effects of cyclophosphamide or large doses of acetaminophen. Before starting to take pentobarbital, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to pentobarbital or to other barbiturates (such as amobarbital, butabarbital, mephobarbital, metharbital, phenobarbital, primidone, and secobarbital). * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had acute or chronic (long-term) pain, Addison's disease (an underactive adrenal gland), diabetes mellitus, kidney disease, liver disease, lung disease, mental depression, porphyria, or thyroid disease. * Since this medication makes you drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * This drug has the potential for abuse and must be used with caution. Tolerance develops quickly; do not increase the dosage or stop taking this drug without consulting your doctor. * If you have been taking pentobarbital for a long time or have been taking large doses, you may experience anxiety, muscle twitching, tremors, weakness, dizziness, nausea, vomiting, insomnia, or blurred vision when you stop taking it. To avoid this reaction, your doctor may want to reduce your dosage gradually. * Be sure to tell your doctor if you are pregnant. Barbiturates cross the placenta, and there has been an association between birth defects and the use of this class of drugs during pregnancy. Such drugs may also lead to an increase in bleeding complications in the newborn. The risks should be discussed with your doctor. In addition, if pentobarbital is used for prolonged periods during the last three months of pregnancy, there is a chance that the infant will be born addicted to the medication and will experience a withdrawal reaction (convulsions or irritability) at birth. Also, tell your doctor if you are breastfeeding an infant. Small amounts of pentobarbital pass into breast milk and may cause excessive drowsiness or breathing problems in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pentobarbital pagetitle pentobarbital 03276.TXT Copyright (C) 1993 Publications International, Ltd. pentoxifylline _________________________ BRAND NAME (Manufacturer) Trental (Hoechst-Roussel) TYPE OF DRUG hemorrheologic INGREDIENT pentoxifylline DOSAGE FORM Controlled-release tablets (400 mg) STORAGE Store at room temperature in a tightly closed container. Pentoxifylline is used to treat intermittent claudication (leg pain caused by poor blood circulation) or peripheral vascular disease. TREATMENT To avoid stomach irritation, pentoxifylline should be taken with meals. The tablets should be swallowed whole; chewing, crushing, or breaking them will destroy the controlled-release activity and increase the risk of side effects. If you miss a dose of pentoxifylline, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. The benefits from pentoxifylline may be seen within two to four weeks after starting the medication. SIDE EFFECTS Minor. Abdominal pain, altered taste, belching, bloating, constipation, diarrhea, dizziness, drowsiness, dry mouth, excessive salivation, flushing, gas, headache, heartburn, insomnia, nasal congestion, nausea, nosebleeds, trembling of the hands, vomiting, or weight change. As your body adjusts to pentoxifylline, these side effects should disappear. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum. If you feel dizzy or light-headed, lie or sit down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, earache, flu-like symptoms, itching, palpitations, rash, shortness of breath, sore throat, unusual bleeding or bruising, unusual weight gain, visual disturbances, or yellowing of the eyes or skin. INTERACTIONS Pentoxifylline interacts with other types of medications: 1. Anticoagulants (blood thinners, such as warfarin) in combination with pentoxifylline can increase the risk of bleeding complications. 2. Pentoxifylline can add to the blood-pressure-lowering effects of antihypertensive medications. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Before you take this medication, it is important to tell your doctor if you have ever had unusual or allergic reactions to any medications, especially to pentoxifylline or chemically related compounds, such as caffeine, dyphylline, oxtriphylline, theophylline, and aminophylline. * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, or peptic ulcer disease. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this drug. Pentoxifylline can increase bleeding complications. * If pentoxifylline makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating dangerous machinery. * Be sure to tell your doctor if you are pregnant. Although pentoxifylline appears to be safe in animals, studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of pentoxifylline pass into human breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. pentoxifyllineower pagetitle pentoxifylline 03277.TXT !Copyright (C) 1993 Publications International, Ltd. perphenazine _________________________ BRAND NAMES (Manufacturers) perphenazine (various manufacturers) Trilafon (Schering) TYPE OF DRUG Phenothiazine tranquilizer INGREDIENT perphenazine DOSAGE FORMS Tablets (2 mg, 4 mg, 8 mg, and 16 mg) Oral concentrate (16 mg per 5-ml spoonful, with less than 0.1% alcohol) STORAGE The tablet forms of this medication should be stored at room temperature in tightly closed, light-resistant containers. The oral concentrate form may be stored in the refrigerator in a tightly closed, light-resistant container. If the oral concentrate turns slightly yellow, the medicine is still effective and can be used. However, if it changes color markedly or has particles floating in it, it should not be used; rather, it should be discarded down the sink. This medication should never be frozen. Perphenazine is prescribed to treat the symptoms of certain types of mental illness, such as psychosis, the manic phase of manic-depressive illness, and severe behavioral problems in children. This medication is thought to relieve the symptoms of mental illness by blocking certain chemicals involved with the transmission of nerve impulses in the brain. TREATMENT To avoid stomach irritation, you can take the tablet form of this medication with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). The oral concentrate form of this medication should be measured carefully with the dropper provided, then added to four ounces (1/2 cup) or more of water, milk, or a carbonated beverage or to applesauce or pudding immediately prior to administration. To prevent possible loss of effectiveness, do not dilute this drug in tea, coffee, or apple juice. Antacids and antidiarrheal medicines may decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least an hour should separate doses of one of these medicines and perphenazine. If you miss a dose, take the missed dose as soon as possible, then return to your regular dosing schedule. If it is almost time for the next dose, however, skip the one you missed and return to your regular schedule. Do not double the next dose (unless your doctor directs you to do so). The full effects of this medication for the control of emotional or mental symptoms may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drooling, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, vomiting, or weight gain. As your body adjusts to the drug, these side effects should disappear. Perphenazine can also cause discoloration of the urine--a harmless side effect. The urine may become red, pink, or red-brown. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum, or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; tremors; uncoordinated movements; unusual bleeding or bruising; visual disturbances; weakness; or yellowing of the eyes or skin. INTERACTIONS Perphenazine interacts with several other types of drugs: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system (brain and spinal cord) depressants, such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications or with tricyclic antidepressants. 2. Perphenazine can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, propranolol, phenytoin, and tricyclic antidepressants may be increased by this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 4. Lithium may increase the side effects and decrease the effectiveness of this medication. Before starting to take perphenazine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to perphenazine or other phenothiazine tranquilizers (such as chlorpromazine, fluphenazine, mesoridazine, prochlorperazine, promazine, thioridazine, trifluoperazine, and triflupromazine) or to loxapine. * Tell your doctor if you have a history of alcoholism or if you now have or have ever had blood disease, bone marrow disease, brain disease, breast cancer, blockage in the urinary or digestive tracts, drug-induced depression, epilepsy, high or low blood pressure, diabetes mellitus, glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or enlarged prostate gland. * Tell your doctor about any recent exposure to a pesticide or an insecticide. Perphenazine may increase the side effects from the exposure. * To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating dangerous machinery. Be careful on stairs and avoid getting up suddenly from a lying or sitting position. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * This medication can decrease sweating and heat release from the body. You should, therefore, try not to get overheated (avoid exercising strenuously in hot weather and taking hot baths, showers, and saunas). * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * If you are planning to have a myelogram or any other procedure in which dye will be injected into your spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral concentrate form on your skin or clothing; it may cause redness and irritation of the skin. * While taking this medication, do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems without first checking with your doctor. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unwanted effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. perphenazinecong "pagetitle perphenazine 03278.TXT "o"Copyright (C) 1993 Publications International, Ltd. perphenazine and amitriptyline combination _________________________ BRAND NAMES (Manufacturers) Etrafon (Schering) Triavil (Merck Sharp & Dohme) TYPE OF DRUG Phenothiazine tranquilizer and tricyclic antidepressant INGREDIENTS perphenazine and amitriptyline DOSAGE FORM Tablets (2 mg perphenazine and 10 mg amitriptyline; 2 mg perphenazine and 25 mg amitriptyline; 4 mg perphenazine and 10 mg amitriptyline; 4 mg perphenazine and 25 mg amitriptyline; and 4 mg perphenazine and 50 mg amitriptyline) STORAGE Store at room temperature in a tightly closed, light-resistant container. Perphenazine and amitriptyline combination is used to relieve anxiety or depression. Amitriptyline belongs to a group of drugs referred to as tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals in the brain. Perphenazine is a phenothiazine tranquilizer. It is thought to relieve the symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. TREATMENT This medication should be taken exactly as your doctor prescribes. In order to avoid stomach irritation, you can take the tablets with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). Antacids and antidiarrheal medicines may decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least one hour should separate doses of perphenazine and amitriptyline combination and one of these medicines. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is within two hours of your next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. The full benefits of this medication for the control of emotional or mental symptoms may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Bloating, blurred vision, constipation, cramps, decreased or increased sweating, diarrhea, dizziness, drowsiness, dry mouth, fatigue, headache, heartburn, insomnia, loss of appetite, nasal congestion, nausea, peculiar tastes in the mouth, restlessness, stomach upset, vomiting, weakness, or weight gain or loss. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. This drug combination may cause a discoloration of the urine. This is a harmless effect. If you experience dry mouth, you might want to try chewing sugarless gum or sucking on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness and light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, confusion, convulsions, difficult or painful urination, enlarged or painful breasts (in both sexes), fainting, fever, hair loss, hallucinations, chest tightness, impotence, menstrual irregularities, mood changes, mouth sores, nervousness, nightmares, numbness in fingers or toes, palpitations, rash, ringing in the ears, sore throat, tremors, uncoordinated movements or balance problems, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS This drug interacts with several other types of drugs: 1. Extreme drowsiness can occur if this medication is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and sleeping medications) or with other antidepressants. 2. Amitriptyline may decrease the effectiveness of antiseizure medications and block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Estrogens and oral contraceptives (birth control pills) can increase the side effects and reduce the effectiveness of amitriptyline. 4. Amitriptyline may increase the side effects of thyroid medication and of over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, and diet medications. 5. The concurrent use of this medication with monoamine oxidase (MAO) inhibitors should be avoided, because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 6. Perphenazine can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 7. The side effects of epinephrine and propranolol may be increased by perphenazine. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to perphenazine or other phenothiazine tranquilizers (such as chlorpromazine, mesoridazine fluphenazine, promazine, thioridazine, and prochlorperazine), or to amitriptyline or other tricyclic antidepressants (such as desipramine, doxepin, imipramine, and nortriptyline). * Tell your doctor if you have ever had asthma, breast cancer, brain disease, diabetes mellitus, electroshock therapy, epilepsy, glaucoma, heart disease, a heart attack, liver disease, lung disease, kidney disease, thyroid disease, intestinal or urinary tract blockage, low or high blood pressure, Parkinson's disease, peptic ulcers, or enlarged prostate. * The effects of this medication may last as long as seven days after you have stopped taking it, so continue to observe all precautions during that period. * To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * This medication can decrease sweating and heat release from the body. You should, therefore, try not to get overheated (avoid exercising strenuously in hot weather and taking hot baths, showers, and saunas). * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or a worsening of your condition. Your doctor may, therefore, want to reduce the dosage gradually. * If you are planning to have a myelogram, or any other procedure in which dye will be injected into your spinal cord, tell your doctor that you are taking this medication. * While taking this medication, do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, asthma, allergy, or sinus problems without first checking with your doctor. The combination of these medications with perphenazine and amitriptyline may cause high blood pressure. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unwanted effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Triavil 2 + 10,Triavil 2 + 25,Triavil 4 + 10,Triavil 4 + 25 0327801.scf,0327802.scf,0327803.scf,0327804.scf perphenazine and amitriptyline combinationk$ logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials &pagetitle perphenazine and amitriptyline combination 03247.TXT Copyright (C) 1993 Publications International, Ltd. nalidixic acid _________________________ BRAND NAME (Manufacturer) NegGram (Winthrop) TYPE OF DRUG Antibiotic INGREDIENT nalidixic acid DOSAGE FORMS Tablets (250 mg, 500 mg, and 1,000 mg) Oral suspension (250 mg per 5-ml spoonful) STORAGE Nalidixic acid tablets and suspension should be stored at room temperature in tightly closed containers. This medication should never be frozen. Nalidixic acid is an antibiotic that is used to treat bacterial urinary tract infections. It works by preventing the growth and multiplication of susceptible bacteria. This medication is not effective against viruses, parasites, or fungi. TREATMENT In order to avoid stomach irritation, you can take nalidixic acid with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough to ensure that you receive the proper dose. Nalidixic acid works best when the level of medicine in your bloodstream and urine is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. Try not to miss any doses of this medication. If you do miss a dose, take it as soon as you remember. However, if it is almost time for your next dose, take the missed dose immediately; space the following dose about halfway through the regular dosing interval; and then continue with your regular dosing schedule. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and your infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, drowsiness, headache, nausea, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about convulsions, itching, joint pain, skin rash, tingling sensations, unusual bleeding or bruising, visual disturbances, or yellowing of the eyes or skin. INTERACTIONS This drug can interact with several other types of drugs: 1. Nalidixic acid can increase the effects of oral anticoagulants, which can lead to bleeding complications. 2. Nitrofurantoin can reduce the effectiveness of this drug. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to nalidixic acid or to cinoxacin or norfloxacin. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had brain disorders, epilepsy, kidney disease, or liver disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * This drug has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medication to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetic patients should know that nalidixic acid can cause false-positive readings of Clinitest urine glucose tests. Temporarily changing to Clinistix or Tes-Tape urine glucose tests avoids this problem. CHECK WITH YOUR DOCTOR before adjusting the dosage of your antidiabetic medication. * If the symptoms of your infection do not improve within several days after starting this medication, CHECK WITH YOUR DOCTOR. Nalidixic acid may not be effective against the organism causing your infection. * Be sure to tell your doctor if you are pregnant. Although nalidixic acid may cross the placenta, it appears to be safe during pregnancy. However, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of nalidixic acid pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. nalidixic acidth a pagetitle nalidixic acid 03248.TXT Copyright (C) 1993 Publications International, Ltd. naproxen _________________________ BRAND NAMES (Manufacturers) Anaprox (Syntex) Anaprox DS (Syntex) Naprosyn (Syntex) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT naproxen (Naprosyn) naproxen as the sodium salt (Anaprox) DOSAGE FORMS Tablets (250 mg, 375 mg, and 500 mg {Naprosyn}; 275 mg and 550 mg {Anaprox}) Oral suspension (125 mg per 5-ml spoonful {Naprosyn}) STORAGE This medication should be stored in a tightly closed container at room temperature, away from heat and direct sunlight. Naproxen is used to treat the inflammation (pain, swelling, and stiffness) of certain types of arthritis, gout, bursitis, and tendinitis. Naproxen is also used to treat painful menstruation. Naproxen has been shown to block the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not yet fully understood how naproxen works. TREATMENT You should take this medication on an empty stomach 30 to 60 minutes before meals or two hours after meals, so that it gets into your bloodstream quickly. However, to decrease stomach irritation, your doctor may want you to take the medicine with food or antacids. It is important to take naproxen on schedule and not to miss any doses. If you do miss a dose, take it as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you are taking naproxen to relieve arthritis, you must take it regularly, as directed by your doctor. It may take up to four weeks before you feel the full benefits of this medication. This medication does not cure arthritis, but it will help to relieve the condition as long as you continue to take it. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, soreness of the mouth, unusual sweating, and vomiting. As your body adjusts to the medication, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; palpitations; ringing or buzzing in the ears or a problem with hearing; shortness of breath or wheezing; skin rash, hives, or itching; stomach pain; sudden decrease in amount of urine; swelling of the feet; tightness in the chest; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; or yellowing of the eyes or skin. INTERACTIONS Naproxen interacts with several other types of medications: 1. Concurrent use of anticoagulants (blood thinners, such as warfarin) can lead to an increase in bleeding complications. 2. Aspirin, salicylates, or other anti-inflammatory medications can cause increased stomach irritation when used concurrently with naproxen. 3. Naproxen can decrease the elimination of lithium and methotrexate from the body, resulting in possible toxicity from these medications. 4. Naproxen may interfere with the blood-pressure-lowering effects of beta-blocking medications (such as acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, and timolol). 5. This medication can also interfere with the diuretic effects of furosemide and thiazide-type diuretics. 6. Probenecid can increase the amount of naproxen in the bloodstream when both drugs are being taken. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Before you take this medication, it is important to tell your doctor if you have ever had unusual or allergic reactions to any medications, especially to naproxen or any of the other chemically related drugs (including aspirin, other salicylates, carprofen, diclofenac, diflunisal, fenoprofen, flurbiprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, or tolmetin). * Before taking this medication, it is important to tell your doctor if you now have or if you have ever had bleeding problems, colitis, stomach ulcers or other stomach problems, asthma, epilepsy, heart disease, high blood pressure, kidney disease, liver disease, mental illness, or Parkinson's disease. * If naproxen makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Because this drug can prolong your bleeding time, it is important to tell your doctor or dentist that you are taking this drug before having surgery or any other medical or dental treatment. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. You should avoid taking frequent doses of aspirin or drinking alcohol while undergoing treatment with this medication (unless your doctor tells you otherwise). * Be sure to tell your doctor if you are pregnant. Naproxen analgesic may cause unwanted effects on the heart or blood flow of the fetus. Studies in animals have shown that taking naproxen late in pregnancy may increase the length of pregnancy, prolong labor, or cause other problems during delivery. Also, be sure to tell your doctor if you are currently breast-feeding an infant. Small amounts of this medication have been shown to pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Anaprox,Anaprox DS,Naprosyn 250 mg,Naprosyn 375 mg,Naprosyn 500 mg 0324801.scf,0324802.scf,0324803.scf,0324804.scf,0324805.scf naproxen logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials TION! pagetitle naproxen 03249.TXT Copyright (C) 1993 Publications International, Ltd. neomycin, polymyxin B, and bacitracin or gramicidin combination (ophthalmic) _________________________ BRAND NAMES (Manufacturers) AK-Spore (Akorn) Mycitracin ophthalmic (Upjohn) neomycin, polymyxin B, and bacitracin or gramicidin combination (various manufacturers) Neomycin, Polymyxin B, and Gramicidin (Rugby) Neosporin (Burroughs Wellcome) TYPE OF DRUG Ophthalmic antibiotic INGREDIENTS neomycin, polymyxin B, and bacitracin (ointment only) or gramicidin (drops only) DOSAGE FORMS Ophthalmic drops (1.75 mg neomycin, 10,000 units polymyxin B, and 0.025 mg gramicidin per ml) Ophthalmic ointment (3.5 mg neomycin, 10,000 units polymyxin B, and 400 units or 500 units bacitracin per gm) STORAGE The ophthalmic drops and ointment should be stored at room temperature in tightly closed containers. This medication should never be frozen. This medication combination is used to treat bacterial infections of the eye. It is an antibiotic combination that is effective against a wide range of bacteria. The medication combination acts by preventing the production of nutrients that are required for growth of the infecting bacteria. This medication is not effective against infections caused by viruses or fungi. TREATMENT Wash your hands with soap and water before using this medication. In order to prevent contamination of the medication, be careful not to touch the tube portion of the dropper, and do not let the dropper touch your eye. Note that the bottle of eye drops is not completely full. This is to allow control of the number of drops dispensed. To apply the eye drops, tilt your head back and pull down the lower eyelid with one hand to make a pouch below the eye. Drop the prescribed amount of medicine into this pouch and slowly close your eyes. Try not to blink. Keep your eyes closed, and place one finger at the corner of the eye next to your nose for a minute or two, applying slight pressure (this is done to prevent loss of medication through the duct that drains fluid from the surface of the eye into the nose and throat). Then wipe away any excess with a clean tissue. If you don't think the medicine got into the eye, repeat the process once. If you are using more than one kind of eye drop, wait at least five minutes before applying the other medication(s). Follow the same general procedure for the ointment. Tilt your head back, pull down your lower eyelid, and squeeze the ointment in a line along the pouch below the eye. Close the eye and place your finger at the corner of the eye near the nose for a minute or two. Do not rub your eyes. Wipe off excess ointment and the tip of the tube with clean tissues. Since this medication is somewhat difficult to apply, you may prefer to have someone else apply it for you. If you miss a dose of this medication, insert the drops or apply the ointment as soon as possible, unless it is almost time for the next application. In that case, do not use the missed dose; just return to your regular dosing schedule. Continue using this medicine for the entire time prescribed by your doctor, even if the symptoms disappear. If you stop too soon, the infection could recur. SIDE EFFECTS Minor. Blurred vision, burning, or stinging. These side effects should disappear as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about disturbed or reduced vision and about itching, rash, redness, or swelling in or around your eyes (other than the original symptoms of your infection). Also, if the infection seems to be getting worse rather than improving, contact your doctor. INTERACTIONS This medication should not interact with other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to neomycin, bacitracin, polymyxin B, gramicidin, or any related antibiotics (such as amikacin, colistimethate, colistin, gentamicin, kanamycin, netilmicin, paromomycin, streptomycin, tobramycin, and viomycin). * Tell your doctor if you now have or if you have ever had kidney disease, an injured cornea, inner ear disease, or myasthenia gravis. * Do not use this medication for longer than ten consecutive days unless your doctor directs you to do so. Prolonged use of this drug may result in eye damage. If you need to use this medication for six weeks or longer, your doctor may want you to have an eye examination. * This medication has been prescribed for your current infection only. Another infection later on may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * In order to allow your eye infection to clear, do not apply makeup to the affected eye. * Tell your doctor if you are pregnant. The effects of this drug during pregnancy have not been studied. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. neomycin, polymyxin B, and bacitracin or gramicidin...mbination (ophthalmic)d ne pagetitle neomycin, polymyxin B, and bacitracin or gramicidin combination (ophthalmic) 03250.TXT Copyright (C) 1993 Publications International, Ltd. nicotine gum _________________________ BRAND NAME (Manufacturer) Nicorette (Merrell Dow) TYPE OF DRUG A "stop smoking" aid INGREDIENT nicotine DOSAGE FORM Chewing gum (2 mg) STORAGE This medication should be kept in its original, child-resistant packaging until it is ready to be chewed. Nicotine gum is used as a temporary aid for smoking cessation programs. It helps control the symptoms of nicotine withdrawal (irritability, headache, fatigue, insomnia) and thus helps you to concentrate on overcoming the psychological and social aspects of your smoking habit. TREATMENT Use nicotine gum when you feel the urge to smoke. Keep the gum with you at all times. Place it where you usually keep your cigarettes. Whenever you feel that you want to smoke, put one piece of gum into your mouth. Chew the gum very slowly, until you taste it or feel a slight tingling in your mouth. As soon as you get the taste of the gum, stop chewing. After the taste or tingling is almost gone (after about one minute), chew slowly again until you taste the gum. Then stop chewing again. The gum should be chewed slowly for 30 minutes to release most of the nicotine. You should not expect the gum to give you the same quick satisfaction that smoking does. Do not drink caffeine-containing beverages while chewing a piece of nicotine gum. Most people find that ten to 12 pieces of gum per day are enough to control their urge to smoke. Depending on your needs, you can adjust the rate of chewing and the time between pieces. Do not chew more than 30 pieces per day (unless your doctor directs you to do so). The risk of smoking again is highest in the first few months, so it is important that you follow your smoking cessation program and use nicotine gum as directed during this period. SIDE EFFECTS Minor. Because of its nicotine content, the gum does not taste like ordinary chewing gum. It has a peppery taste. During the first several days of chewing the nicotine gum, you may experience mouth sores, jaw muscle aches, headaches, and increased salivation. These side effects should disappear as you continue to use the gum. If you chew the gum too fast, you may feel effects similar to those experienced when people inhale a cigarette for the first time or when they smoke too fast. These effects include constipation, coughing, dizziness, dry mouth, gas pains, hiccups, hoarseness, insomnia, light-headedness, nausea, redness of the face, sneezing, stomach pain, stomach upset, throat and mouth irritation, and vomiting. Most of these side effects can be controlled by chewing the gum more slowly. Major. If any of the side effects are persistent or particularly bothersome, report them to your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about signs of too much nicotine (cold sweats, confusion, difficulty in breathing, disturbed hearing or vision, faintness, marked weakness, palpitations, or seizures). If you accidentlly swallow a piece of gum, you should not experience adverse effects. The nicotine is released by chewing and is absorbed primarily in the mouth. INTERACTIONS Smoking cessation, with or without nicotine gum, may affect blood levels of certain medications (including aminophylline, caffeine, glutethimide, imipramine, pentazocine, phenacetin, propoxyphene, and theophylline). Nicotine can reduce the diuretic effects of furosemide and lessen the blood-pressure-lowering effects of beta blockers. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor if you have recently had a heart attack or if you have ever had heart palpitations or arrhythmias, angina, active temporomandibular (jaw) joint disease, cardiovascular disease, endocrine (hormone) disease, thyroid problems, pheochromocytoma, diabetes mellitus, high blood pressure, peptic ulcers, mouth or throat inflammation, or dental problems. * Be sure to tell your doctor if you are pregnant. Nicotine (from the gum or from cigarette smoke) can cause fetal harm. Also, tell your doctor if you are breast-feeding an infant. Small amounts of nicotine can pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. nicotine gumt im9 pagetitle nicotine gum 03251.TXT Copyright (C) 1993 Publications International, Ltd. nicotine transdermal patch _________________________ BRAND NAMES (Manufacturers) Habitrol (Basel) Nicoderm (Marion Merrell Dow) Nicotrol (Warner-Lambert) ProStep (Lederle) TYPE OF DRUG A "stop smoking" aid INGREDIENT nicotine DOSAGE FORM Transdermal patches (5 mg, 7 mg, 10 mg, 11 mg, 14 mg, 15 mg, 21 mg, 22 mg) STORAGE This medication should be kept in its original, child-resistant packaging until ready to be applied to the skin. After use, the patch should be disposed of carefully, as the nicotine patches contain a large quantity of residual nicotine that may be harmful to children or pets. Nicotine patches are used as a temporary aid to smoking cessation programs. They help to control the symptoms of nicotine withdrawal (irritability, headache, fatigue, insomnia) and thus help you to concentrate on overcoming the psychological and social aspects of your smoking habit. Over time the dose of nicotine delivered from the patch is lowered until you are gradually weaned off nicotine. TREATMENT It is important to STOP SMOKING when therapy with nicotine patches is started. If you continue to smoke and use the nicotine patches, you are increasing the amount of nicotine in your blood and may be more likely to experience side effects. The nicotine patch should be applied daily to a non-hairy, clean, dry skin site on the upper trunk (chest, back, stomach) or upper outer arm. After 24 hours, the used patch should be removed and a new patch applied to a different site on your body. Try to change the patch at the same time every day, as this may prevent you from forgetting to apply a new patch. Depending on the type of nicotine patch your doctor prescribes and the severity of your withdrawal symptoms, you may be using the patches daily for six weeks to 12 weeks in order to help you stop smoking. The risk of smoking again is highest in the first few months after using nicotine patches. Follow your smoking cessation program to prevent smoking "relapse." SIDE EFFECTS Minor. Abnormal dreams, diarrhea, difficulty sleeping, dry mouth, mood changes, skin rash, swelling, hives, burning or itching at the patch site, and sweating. These side effects should disappear as your body adjusts to the medication. Major. If any of the side effects are persistent or particularly bothersome, report them to your doctor or pharmacist. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about signs of too much nicotine (cold sweats, confusion, diarrhea, difficulty in breathing, disturbed hearing or vision, nervousness, nightmares, marked weakness, muscle palpitations, severe itching, or rash and seizures). INTERACTIONS Smoking cessation, with or without nicotine patches, may affect blood levels of certain medications (including aminophylline, caffeine, furosemide, imipramine, insulin, labetalol, pentazocine, prazosin, propoxyphene, and theophylline. Nicotine can also lessen the blood-pressure-lowering effects of beta blockers, such as propranolol. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor if you have recently had a heart attack. It is also important to tell your doctor if you now have or if you have ever had heart palpitations or irregular heartbeat, angina, heart disease, hormone imbalances, kidney problems, thyroid problems, pheochromocytoma, diabetes mellitus, high blood pressure, or stomach ulcers. * Be sure to tell your doctor if you are pregnant. Nicotine (from the patches or from cigarette smoke) can cause fetal harm. Also, tell your doctor if you are breast-feeding an infant. Small amounts of nicotine can pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. nicotine transdermal patchm. g pagetitle nicotine transdermal patch 03252.TXT Copyright (C) 1993 Publications International, Ltd. nifedipine _________________________ BRAND NAMES (Manufacturers) Adalat (Miles) Procardia (Pfizer) Procardia XL (Pfizer) TYPE OF DRUG Antianginal INGREDIENT nifedipine DOSAGE FORM Capsules (10 mg, 20 mg, 30 mg, 60 mg, and 90 mg) STORAGE Nifedipine capsules should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat various types of angina (chest pain). Nifedipine belongs to a group of drugs known as calcium channel blockers. By blocking calcium, nifedipine relaxes and prevents spasms of the blood vessels of the heart and reduces the oxygen needs of the heart muscle. TREATMENT Nifedipine should be taken on an empty stomach with a full glass of water one hour before or two hours after a meal (unless your doctor directs you to do otherwise). These capsules should be swallowed whole to obtain maximum benefit. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is within two hours of your next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating, cough, dizziness, flushing, gas, giddiness, headache, heartburn, heat sensation, nasal congestion, nausea, nervousness, sleep disturbances, sweating, or weakness. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, chills, confusion, difficulty in breathing, fainting, fever, fluid retention, impotence, mood changes, muscle cramps, palpitations, rash, sore throat, or tremors. INTERACTIONS Nifedipine interacts with several other types of medications: 1. Nifedipine can increase the active blood levels of digoxin, warfarin, phenytoin, and quinine, which can lead to an increase in side effects. 2. The combination of nifedipine and beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, or timolol) can lead to a severe drop in blood pressure. 3. Nifedipine can lower quinidine blood levels, which can decrease its effectiveness. 4. Cimetidine can decrease the breakdown of nifedipine in the body, which can increase the risk of side effects. Before starting to take nifedipine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to nifedipine. * Tell your doctor if you have ever had heart disease, kidney disease, low blood pressure, or liver disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Do not stop taking this medication unless you first consult your doctor. Stopping this medication abruptly may lead to severe chest pain. Your doctor may, therefore, want to decrease your dosage gradually. * Be sure to tell your doctor if you are pregnant. Nifedipine has been shown to cause birth defects in the offspring of animals that received large doses of it during pregnancy. This medication has not been studied in pregnant women. Also, tell your doctor if you are breast-feeding an infant. It is not known whether nifedipine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Procardia 0325201.scfM nifedipine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle nifedipine 03253.TXT Copyright (C) 1993 Publications International, Ltd. nitrofurantoin _________________________ BRAND NAMES (Manufacturers) Furadantin (Norwich-Eaton) Furalan (Lannett) Furanite (Major) Macrodantin (Norwich-Eaton) Nitrofan (Major) nitrofurantoin (various manufacturers) TYPE OF DRUG Antibiotic INGREDIENT nitrofurantoin DOSAGE FORMS Tablets (50 mg and 100 mg) Capsules (25 mg, 50 mg, and 100 mg) Oral suspension (25 mg per 5-ml spoonful) STORAGE Nitrofurantoin tablets, capsules, and oral suspension should be stored at room temperature in tightly closed, light-resistant containers. Never freeze this medication. Nitrofurantoin is used to treat bacterial infections of the urinary tract (bladder and kidneys). It kills susceptible bacteria by breaking down their cell membranes and interfering with their production of vital nutrients. TREATMENT In order to avoid stomach irritation and to increase the effectiveness of this drug, you can take it with a meal or with a glass of water or milk. The tablets and capsules should be swallowed whole to obtain maximum benefit. The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container in order to distribute the ingredients evenly and equalize the doses. Each dose of the medication should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough to measure your dose of the medication. You can then dilute the dose with water, milk, fruit juice, or infant's formula to mask the unpleasant taste. Nitrofurantoin works best when the level of medicine in your urine is kept constant. It is best, therefore, to take the doses at evenly spaced invervals day and night. For example, if you are to take three doses a day, the doses should be spaced eight hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular dosing schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal cramps, diarrhea, dizziness, drowsiness, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Nitrofurantoin can cause your urine to change color (to rust-yellow or brown). This is a harmless effect, but it may stain your underclothing. The color change will disappear after you stop taking the drug. If this drug makes you dizzy, sit or lie down; get up slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, chills, cough, difficulty in breathing, fainting, fever, hair loss, irritation of the mouth, muscle aches, numbness or tingling, rash, rectal or vaginal itching, unusual bleeding or bruising, weakness, or yellowing of the eyes or skin. Also, if your symptoms or infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Nitrofurantoin interacts with other types of medications: 1. Probenecid and sulfinpyrazone can decrease the effectiveness and increase the side effects of nitrofurantoin. 2. Certain antacids (magnesium trisilicate) can decrease the absorption of nitrofurantoin from the gastrointestinal tract. Before starting to take nitrofurantoin, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to nitrofurantoin, nitrofurazone, or furazolidone. * Be sure to tell your doctor if you now have or if you have ever had anemia, diabetes mellitus, electrolyte abnormalities, glucose-6-phosphate dehydrogenase (G6PD) deficiency, kidney disease, lung disease, nerve damage, or vitamin B deficiencies. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car. * Before surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Diabetics should know that nitrofurantoin can cause false-positive results with some urine sugar tests (for example, Clinitest). Be sure to check with your doctor before adjusting your insulin dose. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. Nitrofurantoin should not be used close to term. It may cause anemia in the newborn infant. Nitrofurantoin should not be used in an infant less than one month of age. Also, tell your doctor if you are breast-feeding an infant. Nitrofurantoin passes into the breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Macrodantin 0325301.scf nitrofurantoin; logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle nitrofurantoin 03254.TXT Copyright (C) 1993 Publications International, Ltd. nitroglycerin (systemic) _________________________ BRAND NAMES (Manufacturers) Nitro-Bid Plateau Caps (Marion) Nitrocine Timecaps (Schwarz Pharma) Nitrogard (Parke-Davis) Nitroglycerin (Lilly) Nitroglyn (Key) Nitrolingual (Rorer) Nitrong (Wharton) Nitrostat (Parke-Davis) TYPE OF DRUG Antianginal INGREDIENT nitroglycerin DOSAGE FORMS Sustained-release tablets (2.6 mg, 6.5 mg, and 9 mg) Sustained-release capsules (2.5 mg, 6.5 mg, and 9 mg) Sublingual tablets (0.15 mg, 0.3 mg, 0.4 mg, and 0.6 mg) Buccal tablets, controlled release (1 mg, 2 mg, and 3 mg) Oral spray (6.4 mg per dose) STORAGE Nitroglycerin tablets, capsules, and oral spray should be stored in a tightly capped bottle in a cool, dry place. The sublingual tablets should be kept in their original glass container. A small, temporary supply of tablets can also be stored in a stainless-steel container that is now available. The pendant-type container, which can be worn around your neck, is a convenient storage place for an emergency supply. NEVER store them in the refrigerator or the bathroom medicine cabinet, because the drug may lose its potency. This medication is used to treat angina (chest pain). Nitroglycerin is a vasodilator, which relaxes the muscles of the blood vessels, causing an increase in the oxygen supply to the heart. The oral tablets and capsules do not act quickly; they are used to prevent chest pain. The sublingual tablets and oral spray act quickly and can be used to relieve chest pain after it has started. TREATMENT You should take the sustained-release tablets or capsules with a full glass of water on an empty stomach one hour before or two hours after a meal. The tablets and capsules should be swallowed whole. Chewing, crushing, or breaking them destroys their sustained-release activity and possibly increases the side effects. NEVER chew or swallow the sublingual or buccal tablets. The sublingual tablet and oral spray forms of the drug are absorbed directly through the lining of the mouth. The sublingual tablet should be allowed to dissolve under the tongue or against the cheek. To use the spray, remove the plastic cover on the container. Then, without shaking the container, spray the medication onto or under the tongue. Try not to inhale the spray. Close your mouth after each spray, and try to avoid swallowing right away. Nitroglycerin spray loses its effectiveness if it is swallowed. Take one tablet or one or two spray doses at the first sign of chest pain. Sit down while you are waiting for the medicine to take effect. Do not eat, drink, or smoke while nitroglycerin is in your mouth. Try not to swallow while nitroglycerin is dissolving, and do not rinse your mouth afterward. Sublingual nitroglycerin or nitroglycerin spray should start working in one to three minutes. If there is no relief, take another tablet in five minutes. IF YOU TAKE THREE TABLETS OR THREE SPRAY DOSES WITHOUT ANY SIGN OF IMPROVEMENT, CALL A DOCTOR IMMEDIATELY OR GO TO A HOSPITAL EMERGENCY ROOM. As a preventive measure, take a nitroglycerin sublingual tablet or a spray dose five or ten minutes before heavy exercise, exposure to high altitudes or extreme cold, or any other potentially stressful situation. Be sure to carry some nitroglycerin sublingual tablets or oral spray with you at ALL times. The buccal tablet should be placed between the upper lip and the gum on either side of the front teeth or between the cheek and the gum. The tablet is held in place by a sticky gel seal that develops once the tablet is in contact with saliva. If you wear dentures, the tablet can be placed anywhere between the cheek and the gum. Avoid drinking hot liquids or touching the tablet with your tongue. This can cause the tablet to dissolve faster and could increase the risk of side effects. If the tablet is swallowed by mistake, replace it with another tablet. Nitroglycerin buccal tablets lose their effectiveness when swallowed. Try not to take the buccal tablet at bedtime in order to avoid inadvertently swallowing and choking on the tablet while you are sleeping. If you miss a dose of the sustained-release tablets or capsules, take the missed dose as soon as possible, unless it is more than halfway through the interval between doses. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Dizziness, flushing of the face, headache, light-headedness, nausea, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Acetaminophen may help to relieve headaches. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about diarrhea, fainting, palpitations, rash, or sweating. INTERACTIONS Nitroglycerin can interact with other types of medications: 1. The combination of alcohol and nitroglycerin can lead to dizziness and fainting. 2. Nitroglycerin can increase the side effects of the tricyclic antidepressants. Before starting to take nitroglycerin, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially tricyclic antidepressants. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to nitroglycerin or isosorbide dinitrate. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had anemia, glaucoma, a head injury, low blood pressure, or thyroid disease or if you have recently had a heart attack. * If this drug makes you dizzy or light-headed, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Tolerance may develop to this medication within one to three months. If it seems to lose its effectiveness, contact your doctor. * You should not discontinue use of nitroglycerin (if you have been taking it on a regular basis) unless you first consult your doctor. Stopping the drug abruptly may lead to further chest pain. Your doctor may, therefore, want to decrease your dosage gradually. * If you have frequent diarrhea, you may not be absorbing the sustained-release form of this medication. Discuss this with your doctor. * While taking this medication, do not take any over-the-counter (nonprescription) asthma, allergy, sinus, cough, cold, or diet preparations unless you first check with your doctor or pharmacist. Some of these drugs decrease the effectiveness of nitroglycerin. * The cotton plug should be removed when the bottle is first opened; it should NOT be replaced (the cotton absorbs some of the medication, decreasing its potency). * Nitroglycerin is highly flammable. Do not use it in places where it might be ignited. * Be sure to tell your doctor if you are pregnant. Although the systemic form of nitroglycerin appears to be safe, extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether nitroglycerin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem....... nitroglycerin (systemic)f al !pagetitle nitroglycerin (systemic) 03255.TXT Copyright (C) 1993 Publications International, Ltd. nitroglycerin (topical) _________________________ BRAND NAMES (Manufacturers) Deponit (Wyeth) Nitro-Bid (Marion) Nitrodisc (Searle) Nitro-Dur (Key) nitroglycerin (various manufacturers) Nitroglycerin Transdermal System (Bolar) Nitrol (Adria) Nitrostat (Parke-Davis) Transderm-Nitro (Ciba) TYPE OF DRUG Antianginal INGREDIENT nitroglycerin DOSAGE FORMS Ointment (2%) Transdermal system (the patch delivers 0.1 mg, 0.2 mg, 0.3 mg, 0.4 mg, or 0.6 mg per hour) STORAGE Nitroglycerin ointment and patches should be stored at room temperature in their original containers. The ointment container should always be tightly capped. Nitroglycerin is used to prevent angina (chest pain). It is a vasodilator, which relaxes the muscles of the blood vessels, causing an increase in the oxygen supply to the heart. The ointment and patches do not act quickly--they should not be used to treat chest pain that has already started. TREATMENT The ointment comes with an applicator with which the prescribed dosage can be easily measured and applied. Before a new dose is applied, the previous dose should be thoroughly removed. Each dose should be applied to a new site on the skin. Do not rub or massage the ointment into the skin. Just spread the ointment in a thin, even layer, covering an area of about the same size each time. Avoid contact of the ointment with other parts of the body, since it is absorbed wherever it touches the skin. Either use plastic or rubber gloves to apply the ointment, or wash your hands immediately after application. Cover the ointment only if directed to do so by your doctor. The transdermal system (patches) allows controlled, continuous release of nitroglycerin. Patches are convenient and easy to use. For best results, apply the patch to a hairless or clean-shaven area of skin, avoiding scars and wounds. Choose a site (such as the chest or upper arm) that is not subject to excessive movement. It is all right to bathe or shower with a patch in place. In the event that a patch becomes dislodged, discard and replace it. Replace a patch by applying a new unit before removing the old one. This allows for uninterrupted drug therapy, and skin irritation is minimized since the site is changed each time. If redness or irritation develops at the application site, consult your physician. Do not trim or cut the patches. This alters the dose of the medication. If you miss an application of this medication, apply the missed application as soon as possible, unless it is more than halfway through the interval between doses. In that case, do not apply the missed application at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Dizziness, flushing of the face, headache, light-headedness, nausea, vomiting, or weakness. These side effects should disappear as your body adjusts to the drug. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. If you are experiencing headaches acetaminophen may help to relieve them slightly. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fainting, palpitations, rash, or sweating. INTERACTIONS Nitroglycerin can interact with other types of medications: 1. The combination of alcohol and nitroglycerin can lead to dizziness and fainting. 2. Nitroglycerin can increase the side effects of the tricyclic antidepressants. Before starting to take nitroglycerin, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially tricyclic antidepressants. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to nitroglycerin or isosorbide dinitrate. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had anemia, glaucoma, a head injury, low blood pressure, or thyroid disease or if you have recently had a heart attack or have a heart condition. * If this drug makes you dizzy or light-headed, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be especially careful when going up and down stairs. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Tolerance to this medication may develop within one to three months. If it seems to lose its effectiveness, contact your doctor. * You should not discontinue use of nitroglycerin unless you first consult your doctor. Stopping the drug abruptly may lead to further chest pain. Your doctor may, therefore, want to decrease your dosage gradually. * While taking this medication, do not take any over-the-counter (nonprescription) asthma, allergy, sinus, cough, cold, or diet preparations unless you first check with your doctor or pharmacist. Some of these drugs decrease the effectiveness of nitroglycerin. * Nitroglycerin is highly flammable. Do not use it in places where it might be ignited. * Be sure to tell your doctor if you are pregnant. The safety of this drug during pregnancy has not been determined. Although this drug appears to be safe, extensive studies in pregnant women have not yet been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether nitroglycerin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. nitroglycerin (topical) pagetitle nitroglycerin (topical) 03256.TXT Copyright (C) 1993 Publications International, Ltd. norfloxacin _________________________ BRAND NAME (Manufacturer) Noroxin (Merck Sharp & Dohme) TYPE OF DRUG Antibiotic INGREDIENT norfloxacin DOSAGE FORM Tablets (400 mg) STORAGE Norfloxacin should be stored at room temperature in a tightly closed container. Norfloxacin is an antibiotic that is used to treat bacterial urinary tract infections. It works by interfering with the reproduction of the bacteria. Norfloxacin kills susceptible bacteria but is not effective against viruses, parasites, or fungi. TREATMENT In order to obtain the maximum benefit from norfloxacin, it is best to take this drug on an empty stomach (one hour before or two hours after a meal) with a full glass of water. Antacids can decrease the absorption of this medication. Therefore, antacids should not be taken within two hours (before or after) of a dose of norfloxacin, unless otherwise directed by your doctor. Norfloxacin works best when the level of medicine in your urine is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. Try not to miss any doses of this medication. If you do miss a dose, take it as soon as you remember. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then continue with your regular dosing schedule. Take this medication for the entire time prescribed by your doctor (usually five to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, your infection could recur. SIDE EFFECTS Minor. Abdominal pain, constipation, diarrhea, dizziness, dry mouth, fatigue, gas, headache, heartburn, nausea, sleeping problems, or vomiting. These side effects should disappear as your body adjusts to this medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum or suck on ice chips or hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about depression, difficult or painful urination, rash, visual disturbances, or yellowing of the skin or eyes. Also, if the symptoms of your infection seem to be getting worse rather than improving, contact your doctor. INTERACTIONS Norfloxacin can interact with several other types of drugs: 1. Probenecid can block the excretion of norfloxacin into the urinary tract, decreasing its effectiveness in treating infections located there. 2. Antacids can decrease the absorption of norfloxacin from the gastrointestinal tract. 3. Nitrofurantoin may antagonize (act against) the effectiveness of norfloxacin. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to norfloxacin or to the related antibiotics cinoxacin and nalidixic acid. * Before starting norfloxacin, tell your doctor if you now have or if you have ever had liver disease or seizures. * If this drug makes you dizzy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be especially careful when going up and down stairs. * In order to prevent the formation of crystals in the kidneys, try to drink plenty of fluids (at least eight glasses of water or fruit juice each day) while you are taking this medication (unless your doctor directs you to do otherwise). * This medication has been prescribed for your current infection only. A subsequent infection, or one that someone else has, may require a different medicine. Do not give your medicine to other people or use it to treat other infections, unless your doctor directs you to do so. * Be sure to tell your doctor if you are pregnant. Studies in pregnant women have not been conducted. However, lameness has occurred in the immature offspring of animals that received large doses of norfloxacin during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not yet known if norfloxacin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. norfloxacin pagetitle norfloxacin 03257.TXT Copyright (C) 1993 Publications International, Ltd. nortriptyline _________________________ BRAND NAMES (Manufacturers) Aventyl (Lilly) Pamelor (Sandoz) TYPE OF DRUG Tricyclic antidepressant INGREDIENT nortriptyline DOSAGE FORMS Capsules (10 mg, 25 mg, 50 mg, and 75 mg) Oral solution (10 mg per 5-ml spoonful, with 4% alcohol) STORAGE Store at room temperature in a tightly closed container. Nortriptyline is used to relieve the symptoms of mental depression. It is thought to relieve depression by increasing the concentration of certain chemicals necessary for nerve transmission in the brain. TREATMENT This medication should be taken exactly as your doctor prescribes. It can be taken with water or with food to lessen the chance of stomach irritation, unless your doctor tells you to do otherwise. If you miss a dose of this medication, take the missed dose as soon as possible, and then return to your regular dosing schedule. However, if the dose you missed was a once-a-day bedtime dose, do not take that dose in the morning; check with your doctor instead. If the dose is taken in the morning, it may cause unwanted side effects. Never double the dose. The effects of therapy with this medication may not become apparent for two or three weeks. SIDE EFFECTS Minor. Anxiety, blurred vision, confusion, constipation, cramps, diarrhea, dizziness, drowsiness, dry mouth, fatigue, heartburn, insomnia, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. As your body adjusts to the medication, these side effects should disappear. This medication may increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight or sunlamps. Wear protective clothing and use sunscreen. Dry mouth caused by therapy with this medication can be relieved by chewing sugarless gum or by sucking on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, chest pain, convulsions, difficulty in urinating, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, headaches, impotence, mood changes, mouth sores, nervousness, nightmares, numbness in the fingers or toes, palpitations, ringing in the ears, seizures, skin rash, sleep disorders, sore throat, swelling, tremors, uncoordinated movements or balance problems, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Nortriptyline interacts with several other types of medications: 1. Extreme drowsiness can occur when this drug is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or other tricyclic antidepressants. 2. Nortriptyline may decrease the effectiveness of antiseizure medications and may block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Birth control pills and estrogen-containing drugs can increase the side effects and reduce the effectiveness of the tricyclic antidepressants (including nortriptyline). 4. Tricyclic antidepressants may increase the side effects of thyroid medication and over-the-counter (nonprescription) cough, cold, asthma, allergy, sinus, and diet medications. 5. The concurrent use of tricyclic antidepressants and monoamine oxidase (MAO) inhibitors should be avoided because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 6. Cimetidine can decrease the elimination of nortriptyline from the body, increasing the possibility of side effects. Before starting to take nortriptyline, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to any medications, especially to nortriptyline or any of the other tricyclic antidepressants (amitriptyline, imipramine, doxepin, trimipramine, amoxapine, protriptyline, desipramine, or maprotiline). * Tell your doctor if you have a history of alcoholism or if you have ever had asthma, high blood pressure, liver or kidney disease, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or other medical or dental treatment, be sure to tell your doctor or dentist about this drug. * Do not stop taking this drug suddenly. Abruptly stopping it can cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The effects of nortriptyline may last as long as seven days after you have stopped taking it, so continue to observe all precautions during that period. * Be sure to tell your doctor if you are pregnant. Problems in humans have not been reported; however, studies in animals have shown that this type of medication can cause side effects in the fetus when given to the mother in large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug can pass into breast milk and may cause unwanted effects, such as irritability or sleeping problems, in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Pamelor 0325701.scf nortriptyline logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle nortriptyline 03258.TXT Copyright (C) 1993 Publications International, Ltd. nystatin _________________________ BRAND NAMES (Manufacturers) Mycostatin (Squibb) Nilstat (Lederle) nystatin (various manufacturers) Nystex (Savage) 0-V Statin (Squibb) TYPE OF DRUG Antifungal INGREDIENT nystatin DOSAGE FORMS Oral tablets (500,000 units) Oral suspension (100,000 units per ml with not more than 1.0% alcohol) Oral lozenges (200,000 units) Vaginal tablets (100,000 units) Topical cream, ointment, and powder (100,000 units per gram) STORAGE Nystatin should be stored at room temperature (never frozen) in a tightly closed, light-resistant container. Nystatin is used to treat fungal infections of the throat, gastrointestinal tract, skin, and vagina. By chemically binding to the cell membranes of fungal organisms, this medication causes the cell contents to leak out, which kills the fungi. TREATMENT You can take the oral tablet form of nystatin either on an empty stomach or with food or milk (as directed by your doctor). The oral suspension should be shaken well just before using each dose. The contents tend to settle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose of the oral suspension should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Place half of the dose in each side of your mouth. Try to hold the suspension in the mouth or swish it through the mouth for as long as possible before swallowing it. The oral lozenge form should be allowed to dissolve slowly in the mouth. The vaginal tablets are packaged with instructions and an applicator for inserting the tablets into the vagina. Read the instructions carefully before using this product. Occasionally, the vaginal tablets are prescribed to be taken orally (to treat mouth or throat infections). The tablets are sucked on to increase contact time with the mouth and throat. The region where you are to apply the topical cream, ointment, or powder should be washed carefully and patted dry. A sufficient amount of medication should then be applied to the affected area. An occlusive dressing (like kitchen plastic wrap) should NOT be applied over the medication (unless your doctor directs you to do so). If you are using the powder form to treat a foot infection, sprinkle liberally into your shoes and socks. Try not to miss any doses of this medication. If you do miss a dose, take (or apply) the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take (or apply) the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of this medication. Take this drug for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant fungi are given a chance to continue growing, and your infection could recur. SIDE EFFECTS Minor. Oral forms: diarrhea, nausea, or vomiting. Topical and vaginal forms: itching. These side effects should disappear as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about a rash. Also, if symptoms of your infection seem to be getting worse rather than improving, tell your doctor. INTERACTIONS Nystatin should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to nystatin. * If you are using this drug to treat a vaginal infection, avoid sexual intercourse or ask your partner to wear a condom until treatment has been completed. These measures help prevent reinfection. Use the vaginal tablets continuously, even during a menstrual period. Unless instructed otherwise by your doctor, do not douche during treatment or until three weeks after you stop using the vaginal tablets. Wear cotton panties, rather than nylon or other nonporous materials, when you are being treated for fungal infections of the vagina. There may be some vaginal drainage while using the vaginal tablets, so you may wish to use a sanitary napkin or panty liner. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * If the symptoms of infection do not begin to improve two or three days after starting nystatin, CONTACT YOUR DOCTOR. This medication may not be effective against the organism causing your infection. * Be sure to tell your doctor if you are pregnant. Although nystatin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this medication passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. nystatinhere pagetitle nystatin 03259.TXT Copyright (C) 1993 Publications International, Ltd. omeprazole _________________________ BRAND NAME (Manufacturer) Prilosec (MSD) TYPE OF DRUG Gastric acid secretion inhibitor INGREDIENT omeprazole DOSAGE FORM Delayed-release capsules (20 mg) STORAGE Omeprazole should be stored at room temperature in a tightly closed container. Omeprazole is prescribed to treat peptic ulcer disease, gastroesophageal reflux, and hypersecretory syndromes. This drug suppresses the secretion of acid in the stomach. TREATMENT Omeprazole capsules should not be opened, chewed, or crushed. They should be taken with a glass of water on an empty stomach. It is best to take the dose one hour before meals or two hours after meals. Try to take the medication at the same time(s) each day. If you miss a dose of the medication, take the missed dose as soon as possible, then return to your regular dosing schedule. If it is almost time for the next dose, however, skip the one you missed and return to your regular schedule. Do not double the next dose (unless your doctor directs you to do so) of the medication. It is important that you take this medication for as long as prescribed by your doctor. SIDE EFFECTS Minor. Abdominal pain, burning sensation in mouth, constipation, diarrhea, dizziness, dry mouth, fatigue, headache, or palpitations. To relieve constipation while you are being treated with this medication, exercise and drink more water, unless your doctor directs you to do otherwise. To avoid dizziness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. To relieve dry mouth, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about itching, numbness or tingling of fingers or toes, rash, or yellowing of the eyes and skin. INTERACTIONS Omeprazole may increase the effects of diazepam, warfarin, and phenytoin. Be sure to tell your doctor about any medications you are currently taking, especially any of the ones listed above. WARNINGS * Be sure to tell your doctor about unusual reactions you have had to any drugs, especially to omeprazole. * Tell your doctor if you have ever had thyroid disease, liver disease, Addison's disease, or Cushing's disease. * This medication may cause dizziness and light-headedness, so use caution while driving a car or operating potentially dangerous equipment. * Long-term and high-dose treatment with omeprazole has been associated with higher incidences of gastric tumors. Consult your doctor if you need to take high doses of omeprazole for a long time. * Be sure to tell your doctor if you are pregnant. Adequate human studies have not been conducted with omeprazole. Also, be sure to tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Prilosec 0325901.scf omeprazole5 logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle omeprazole 03260.TXT Copyright (C) 1993 Publications International, Ltd. oral contraceptives _________________________ BRAND NAMES (Manufacturers) Brevicon (Syntex) Demulen (Searle) Loestrin (Parke-Davis) Lo/Ovral (Wyeth) Modicon (Ortho) Nordette (Wyeth) Norinyl (Syntex) Norlestrin (Parke-Davis) Ortho-Novum (Ortho) Ovcon (Mead Johnson) Ovral (Wyeth) Tri-Levlen (Berlex) Tri-Norinyl (Syntex) Triphasil (Wyeth-Ayerst) TYPE OF DRUG Oral contraceptive INGREDIENTS estrogens and progestins DOSAGE FORM Tablets (in packages of 21 or 28 tablets; when 28 tablets are present, seven of the tablets either are placebos or contain iron) STORAGE Oral contraceptives should be stored at room temperature. They should be kept in their original container, which is designed to help you keep track of your dosing schedule. Oral contraceptives change the hormone balance of the body to prevent pregnancy. TREATMENT To avoid stomach irritation, you can take oral contraceptives with food or with a full glass of water or milk. In order to become accustomed to taking this medication, try to take it at the same time every day. Use a supplemental method of birth control for the first week after you start taking oral contraceptives (the medication takes time to become fully effective). Even if you do not start to menstruate on schedule at the end of the pill cycle, begin the next cycle of pills at the prescribed time. Many women taking oral contraceptives have irregular menstruation. If you miss a dose of this medication and you are on a 21-day schedule, take the missed dose as soon as you remember. If you don't remember until the next day, take the dose of that day plus the one you missed; then return to your regular dosing schedule. If you miss two days' doses, you should take two tablets a day for the next two days; then return to your regular dosing schedule. You should also use another form of birth control during those four days. If you miss your dose three days in a row, you should stop taking this drug and use a different method of birth control until you check with your doctor. Your doctor may want you to start a new package seven days after the last tablet was missed and use an additional method of birth control until the start of your next period. If you are on the 28-day schedule and you miss taking any one of the first 21 tablets, you should follow the instructions for the 21-day schedule. If you missed taking any of the last seven tablets, there is no danger of pregnancy, but you should take the first pill of the next month's cycle on the regularly scheduled day. SIDE EFFECTS Minor. Abdominal cramps, acne, backache, bloating, change in appetite, changes in sexual desire, diarrhea, dizziness, fatigue, headache, nasal congestion, nausea, nervousness, vaginal irritation, or vomiting. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you feel dizzy, sit or lie down for a while. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal pain; breakthrough vaginal bleeding (spotting); changes in menstrual flow; chest pain; depression; difficult or painful urination; enlarged or tender breasts; hearing changes; increase or decrease in hair growth; migraine headaches; numbness or tingling; pain in your calves; rash; skin color changes; swelling of the feet, ankles, or lower legs; unusual bleeding or bruising; vaginal itching; weight changes; or yellowing of the eyes or skin. INTERACTIONS These drugs interact with several other types of drugs: 1. Pain relievers, antimigraine preparations, rifampin, barbiturates, phenylbutazone, phenytoin, primidone, carbamazepine, isoniazid, neomycin, griseofulvin, penicillins, tetracycline, chloramphenicol, sulfonamide antibiotics, nitrofurantoin, and ampicillin can decrease the effectiveness of oral contraceptives. 2. Oral contraceptives can reduce the effectiveness of oral anticoagulants (blood thinners, such as warfarin), anticonvulsants, tricyclic antidepressants, antihypertensive agents, oral antidiabetic agents, and vitamins. 3. Oral contraceptives can increase the blood levels of caffeine, diazepam, chlordiazepoxide, metoprolol, propranolol, adrenocorticosteroids (cortisone-like medications), imipramine, clomipramine, phenytoin, and phenylbutazone, which can lead to an increase in side effects. 4. Oral contraceptives can decrease the blood levels and, therefore, the effectiveness of lorazepam and oxazepam. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to estrogens, progestins, or progesterones. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had asthma, bleeding problems, breast cancer, clotting disorders, diabetes mellitus, endometriosis, epilepsy, gallbladder disease, heart disease, high blood pressure, kidney disease, liver disease, mental depression, migraine headaches, porphyria, strokes, thyroid disease, uterine tumors, vaginal bleeding, or vitamin deficiencies. * Some women who have used an oral contraceptive have had difficulty becoming pregnant after discontinuing use. Most of these women had had scanty or irregular periods before starting oral contraceptives. Possible subsequent difficulty in becoming pregnant is a matter you should discuss with your doctor before using an oral contraceptive. * Every prescription comes with a booklet that explains birth control pills. Read this booklet carefully. It contains exact directions on how to use this medicine correctly and describes the risks involved. * Women over 30 years of age and women who smoke while taking this medication have an increased risk of developing serious heart or blood vessel side effects. * If this drug makes you dizzy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * This type of drug has been suspected of causing cancer. If you have a family history of cancer, you should consult your doctor before taking oral contraceptives. * Be sure to tell your doctor if you are pregnant. Oral contraceptives have been associated with birth defects in animals and in humans. Because hormones have long-term effects on the body, oral contraceptives should be stopped at least three months prior to becoming pregnant. Another method of birth control should be used for those three months. Also, tell your doctor if you are breast-feeding an infant. This medication passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. oral contraceptives pagetitle oral contraceptives 03261.TXT Copyright (C) 1993 Publications International, Ltd. orphenadrine, aspirin, and caffeine combination _________________________ BRAND NAMES (Manufacturers) Norgesic (Riker) Norgesic Forte (Riker) Orphengesic (various manufacturers) TYPE OF DRUG Muscle relaxant and analgesic INGREDIENTs orphenadrine, aspirin, and caffeine DOSAGE FORM Tablets (25 mg orphenadrine, 385 mg aspirin, and 30 mg caffeine {Norgesic}; 50 mg orphenadrine, 770 mg aspirin, and 60 mg caffeine {Norgesic Forte}) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Orphenadrine, aspirin, and caffeine combination drug is used to relax muscles and to relieve the pain of sprains, strains, and other muscle injuries. Orphenadrine acts as a central nervous system (brain and spinal cord) depressant, which blocks reflexes involved in producing and maintaining muscle spasms. It does not act directly on tense muscles. Caffeine is a central nervous system stimulant that acts by constricting the blood vessels in the head. This may help relieve headaches. TREATMENT These tablets should be taken with a full glass of water. To avoid stomach irritation, you can also take this medication with food or milk (unless your doctor directs otherwise). If you miss a dose of this medication and remember within an hour, take the missed dose and then return to your regular dosing schedule. If it has been longer than an hour, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, confusion, constipation, diarrhea, dizziness, drowsiness, dry mouth, headache, indigestion, insomnia, nausea, nervousness, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, suck on ice chips or a piece of hard candy or chew sugarless gum. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; chest tightness; difficulty in breathing; difficulty in urinating; hearing loss; palpitations; rash; ringing in the ears; or severe abdominal pain. INTERACTIONS This medication interacts with several other types of drugs: 1. Orphenadrine can cause extreme drowsiness when combined with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, phenothiazine tranquilizers, narcotics, and sleeping medications) or with tricyclic antidepressants. 2. Orphenadrine can cause confusion, anxiety, and tremors when combined with propoxyphene. 3. Aspirin can increase the active blood levels of methotrexate, oral antidiabetic agents, and oral anticoagulants (blood thinners, such as warfarin), which can lead to an increase in side effects. 4. The antigout activity of probenecid and sulfinpyrazone are decreased by aspirin. 5. The gastrointestinal side effects of anti-inflammatory medications may be increased by aspirin. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs, especially to orphenadrine, caffeine, aspirin, other salicylates, methyl salicylate, or nonsteroidal anti-inflammatory agents (such as diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, and tolmetin). * Tell your doctor if you now have or if you have ever had anemia, bladder obstruction, glaucoma, gout, kidney disease, liver disease, myasthenia gravis, peptic ulcers, enlarged prostate gland, intestinal obstruction, or bleeding problems. * This medication should not be taken as a substitute for rest, physical therapy, or other measures recommended by your doctor to treat your condition. * If this medication makes you dizzy or drowsy or blurs your vision, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery, while you are taking it. * Before having surgery or other medical or dental treatment, tell your doctor or dentist about this drug. Treatment with aspirin-containing drugs is usually discontinued several days before any major surgery, to prevent bleeding complications. * Because this product contains aspirin, additional medications that contain aspirin should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold products to see if they contain aspirin. * The use of aspirin in children (about 16 years of age or less) with the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Aspirin-containing products should, therefore, not be given to children who are exhibiting signs of infection. * Diabetic patients should be aware that large doses of aspirin (more than six 385-mg tablets or three 770-mg tablets per day) may interfere with urine sugar testing. Diabetics should, therefore, check with their doctor before changing their insulin dose. * Be sure to tell your doctor if you are pregnant. Aspirin can prolong labor if it is taken by the mother close to term and can cause heart problems in newborn infants. Also, tell your doctor if you are breast-feeding an infant. It is not known whether orphenadrine passes into breast milk, but small quantities of aspirin and caffeine are able to pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Norgesic,Norgesic Forte 0326101.scf,0326102.scf orphenadrine, aspirin, and caffeine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle orphenadrine, aspirin, and caffeine combination 03262.TXT Copyright (C) 1993 Publications International, Ltd. oxacillin _________________________ BRAND NAMES (Manufacturers) Bactocill (Beecham) Prostaphlin (Bristol) TYPE OF DRUG Penicillin antibiotic INGREDIENT oxacillin DOSAGE FORMS Capsules (250 mg and 500 mg) Oral solution (250 mg per 5-ml spoonful) STORAGE Oxacillin capsules should be stored at room temperature in a tightly closed container. The oral solution should be stored in the refrigerator in a tightly closed container. Any unused portion of the solution should be discarded after 14 days. This medication should never be frozen. Oxacillin is used to treat a wide variety of bacterial infections, especially those involving Staphylococcus bacteria. This medication acts by severely injuring the cell membranes of the infecting bacteria, thereby preventing them from growing and multiplying. Oxacillin kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Oxacillin should be taken on an empty stomach or with a glass of water one hour before or two hours after a meal. This medication should never be taken with fruit juices or carbonated beverages, because the acidity of these drinks destroys the drug in the stomach. The oral solution should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Oxacillin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are taking four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. If you do not remember to take the missed dose until it is almost time for your next dose, take it immediately, space the following dose about halfway through the regular interval between doses, and then return to your regular dosing schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms of infection disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloating, chills, cough, darkened tongue, difficulty in breathing, difficult or painful urination, fever, irritation of the mouth, muscle aches, rash, rectal or vaginal itching, severe diarrhea, sore throat, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Oxacillin interacts with other types of medications: 1. Probenecid can increase the blood concentrations of this medication. 2. Oxacillin may decrease the effectiveness of birth control pills, and pregnancy could result. You should, therefore, use another form of birth control while taking this drug. Discuss alternatives with your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to oxacillin, other penicillins, cephalosporin antibiotics, penicillamine, or griseofulvin. * Tell your doctor if you now have or if you have ever had kidney disease, asthma, or allergies. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. Therefore, you should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking oxacillin should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking oxacillin, you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although oxacillin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. oxacillin pagetitle oxacillin 03231.TXT @!*!Copyright (C) 1993 Publications International, Ltd. methylprednisolone (systemic) _________________________ BRAND NAMES (Manufacturers) Medrol (Upjohn) methylprednisolone (various manufacturers) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT methylprednisolone DOSAGE FORM Tablets (2 mg, 4 mg, 8 mg, 16 mg, 24 mg, and 32 mg) STORAGE Store at room temperature in a tightly closed container. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reactions to inflammation). Methylprednisolone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to treat a variety of disorders, including endocrine and rheumatic disorders; asthma; blood diseases; certain cancers; eye disorders; gastrointestinal disturbances, such as ulcerative colitis; respiratory diseases; and inflammations, such as arthritis, dermatitis, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT In order to prevent stomach irritation, you can take methylprednisolone with food or milk. If you are taking only one dose of this medication each day, try to take it before 9:00 a.m. This will mimic the body's normal production of this type of chemical. It is important to try not to miss any doses of methylprednisolone. However, if you do miss a dose of this medication, follow these guidelines: 1. If you are taking this medication more than once a day, take the missed dose as soon as possible and return to your regular schedule. If it is already time for the next dose, double the dose. 2. If you are taking this medication once a day, take the dose you missed as soon as possible, unless you don't remember until the next day. In that case, do not take the missed dose at all; just follow your regular schedule. Do not double the next dose. 3. If you are taking this drug every other day, take it as soon as you remember. If you missed the scheduled time by a whole day, take it when you remember, and then skip a day before you take the next dose. Do not double the dose. If you miss more than one dose, CONTACT YOUR DOCTOR IMMEDIATELY. SIDE EFFECTS Minor. Dizziness, false sense of well-being, increased appetite, increased susceptibility to infections, increased sweating, indigestion, menstrual irregularities, nausea, reddening of the skin on the face, restlessness, sleep disorders, or weight gain. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal enlargement; abdominal pain; acne or other skin problems; back or rib pain; bloody or black, tarry stools; blurred vision; convulsions; eye pain; fever and sore throat; growth impairment (in children); headaches; impaired healing of wounds; increased thirst and urination; mental depression; mood changes; muscle wasting; muscle weakness; nightmares; rapid weight gain (three to five pounds within a week); rash; shortness of breath; thinning of the skin; unusual bleeding or bruising; and unusual weakness. INTERACTIONS Methylprednisolone interacts with several other types of medications: 1. Alcohol, aspirin, and anti-inflammatory medications (diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, mefenamic acid, meclofenamate, naproxen, piroxicam, sulindac, or tolmetin) aggravate the stomach problems that are common with use of this medication. 2. The dosage of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic medications, or insulin may need to be altered when this therapy with systemic methylprednisolone is started or stopped. 3. The loss of potassium caused by methylprednisolone can lead to serious side effects in individuals taking digoxin. Thiazide diuretics (water pills) can increase the potassium loss caused by methylprednisolone. 4. Phenobarbital, phenytoin, rifampin, and ephedrine can increase the elimination of methylprednisolone from the body, thereby decreasing its effectiveness. 5. Oral contraceptives (birth control pills) and estrogen-containing drugs may decrease the elimination of this medication from the body, which can lead to an increase in side effects. 6. Methylprednisolone can increase the elimination of aspirin and isoniazid, thereby decreasing the effectiveness of these two medications. 7. Cholestyramine and colestipol can chemically bind this medication in the stomach and gastrointestinal tract and prevent its absorption. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methylprednisolone or other adrenocorticosteroids (such as betamethasone, cortisone, dexamethasone, hydrocortisone, paramethasone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had bone disease, diabetes mellitus, emotional instability, glaucoma, fungal infections, heart disease, high blood pressure, high cholesterol levels, myasthenia gravis, peptic ulcers, osteoporosis, thyroid disease, tuberculosis, ulcerative colitis, kidney disease, or liver disease. * To help avoid potassium loss while using this drug, take your dose with a glass of fresh or frozen orange juice or eat a banana each day. The use of a salt substitute also helps to prevent potassium loss. Check with your doctor before using a salt substitute. * If you are using this medication for longer than a week, you may need to have your dosage adjusted if you are subjected to stress, such as serious infections, injury, or surgery. Discuss this with your doctor. * If you have been taking this drug for more than a week, do not stop taking it suddenly. If it is stopped suddenly, you may experience abdominal or back pain, dizziness, fainting, fever, muscle or joint pain, nausea, vomiting, shortness of breath, or extreme weakness. Your doctor may, therefore, want to reduce the dosage gradually. Never increase the dosage or take the drug for longer than the prescribed time, unless you first consult your doctor. * While you are taking methylprednisolone, you should not be vaccinated or immunized. This medication decreases the effectiveness of vaccines and can lead to overwhelming infection if a live-virus vaccine is administered. * Before having surgery or medical or dental treatment, be sure to tell your doctor or dentist about this drug. * Because this drug can cause glaucoma and cataracts with long-term use, your doctor may want you to have your eyes examined by an ophthalmologist periodically during treatment. * If you are taking this medication for prolonged periods, you should wear or carry a notice or identification card stating that you are taking an adrenocorticosteroid. * This medication can raise blood sugar levels in diabetic patients. Blood sugar levels should, therefore, be monitored carefully with blood or urine tests when this medication is being taken. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta. Although studies in humans have not been conducted, birth defects have been observed in the fetuses of animals that were given large doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of methylprednisolone pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. methylprednisolone (systemic) L"pagetitle methylprednisolone (systemic) 03232.TXT Copyright (C) 1993 Publications International, Ltd. methyltestosterone _________________________ BRAND NAMES (Manufacturers) Android (Brown) Metandren (Ciba) methyltestosterone (various manufacturers) Oreton Methyl (Schering) Testred (ICN) Virilon (Star) TYPE OF DRUG Androgen INGREDIENT methyltestosterone DOSAGE FORMS Oral tablets (10 mg and 25 mg) Buccal tablets (5 mg and 10 mg) Capsules (10 mg) STORAGE Methyltestosterone should be stored at room temperature in a tightly closed container. This medication is a synthetic androgen (male hormone) that is used to treat conditions such as delayed puberty, eunuchism, or impotence in males whose bodies cannot produce enough testosterone on their own. The medication may be used to treat breast cancer in women whose breast tumor responds to hormone treatment. TREATMENT In order to avoid stomach irritation, you can take methyltestosterone oral tablets or capsules with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). The buccal tablet form of methyltestosterone is meant to be absorbed through the lining of the mouth, rather than swallowed. The tablet should be placed between your gum and cheek and allowed to dissolve slowly. Do not eat, drink, chew, or smoke while the tablet is dissolving. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of the medication. SIDE EFFECTS Minor. Decrease or increase in sexual desire, diarrhea, headache, loss of appetite, nausea, stomach irritation, sleeping difficulties, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about acne; black, bloody, or tarry stools; breast enlargement or tenderness; flushing; frequent or continuous erection; hair loss or growth; hoarseness or deepening of the voice; increased urination; shortness of breath; skin rash; swelling of the hands or feet; sore throat; tiredness; unusual bleeding or bruising; or yellowing of the eyes or skin. INTERACTIONS Methyltestosterone interacts with several other types of medications: 1. It can increase the effects of oral anticoagulants (blood thinners, such as warfarin), which can lead to bleeding complications. 2. Diabetic patients should know that methyltestosterone can lower blood sugar levels. The dosage of oral antidiabetic medication or insulin may, therefore, require adjustment when this medication is being taken. 3. Concurrent use of methyltestosterone and adrenocorticosteroids (cortisone-like medications) can lead to fluid retention. Before starting to take methyltestosterone, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methyltestosterone or to any other androgen (such as fluoxymesterone or testosterone). * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had breast cancer, fluid retention, heart disease, hypercalcemia (high blood calcium levels), kidney disease, liver disease, or prostate disorders. * Although androgens have been used by athletes to increase muscle strength, there is no conclusive evidence that these drugs increase athletic performance. There is also some question as to their safety. * High-dose methyltestosterone therapy may cause infertility in males. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (fainting, rash, shortness of breath) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. If methyltestosterone is taken by a pregnant woman, it can cause masculine characteristics in the developing fetus, such as increased body hair. (Note: This does NOT affect the sex of the fetus, which is determined at conception.) Also, tell your doctor if you are breast-feeding an infant. Methyltestosterone passes into breast milk and can cause masculinization of the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. methyltestosteroneThe ? pagetitle methyltestosterone 03233.TXT Copyright (C) 1993 Publications International, Ltd. metoclopramide _________________________ BRAND NAMES (Manufacturers) Clopra (Quantum) Maxolon (Beecham) metoclopramide (various manufacturers) Reglan (Robins) TYPE OF DRUG Dopamine antagonist and antiemetic INGREDIENT metoclopramide DOSAGE FORMS Tablets (5 mg and 10 mg) Oral syrup (5 mg per 5-ml spoonful) STORAGE Metoclopramide tablets and oral syrup should be stored at room temperature in tightly closed containers. Do not freeze the syrup form of this medication. This medication is used to relieve the symptoms associated with diabetic gastric stasis or gastric reflux and to prevent nausea and vomiting. Metoclopramide acts directly on the vomiting center in the brain to prevent nausea and vomiting. It also increases the movement of the stomach and intestines. TREATMENT To obtain the best results from treatment, you should take metoclopramide tablets or syrup 30 minutes before a meal and at bedtime. Each dose of the syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, dizziness, drowsiness, dry mouth, fatigue, headache, insomnia, nausea, restlessness, or weakness. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety; confusion; depression; disorientation; involuntary movements of the eyes, face, or limbs; muscle spasms; rash; or trembling of the hands. INTERACTIONS Metoclopramide interacts with several types of drugs: 1. Concurrent use of metoclopramide with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, benzodiazepine tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. Narcotic analgesics may block the effectiveness of metoclopramide. 3. Metoclopramide can block the effectiveness of bromocriptine. It can also decrease the absorption of cimetidine and digoxin from the gastrointestinal tract, decreasing their effectiveness. 4. Metoclopramide can increase the absorption of acetaminophen, tetracycline, levodopa, and alcohol. 5. Diabetic patients should know that dosage requirements of insulin may change when metoclopramide is being taken. Before starting to take metoclopramide, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to metoclopramide, procaine, or procainamide. * Before starting to take metoclopramide, be sure to tell your doctor if you now have or if you have ever had epilepsy, kidney disease, liver disease, intestinal bleeding or blockage, Parkinson's disease, or pheochromocytoma. * If this drug makes you dizzy or drowsy, do not take part in any activities that require alertness, such as driving a car or operating potentially dangerous machinery. * Be sure to tell your doctor if you are pregnant. Extensive studies in women during pregnancy have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Metoclopramide passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Reglan 0323301.scf metoclopramide logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials ose.[ pagetitle metoclopramide 03234.TXT Copyright (C) 1993 Publications International, Ltd. metolazone _________________________ BRAND NAMES (Manufacturers) Diulo (Searle) Microx (Pennwalt) Zaroxolyn (Pennwalt) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT metolazone DOSAGE FORM Tablets (2.5 mg, 5 mg, and 10 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Metolazone is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. Metolazone reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To decrease stomach irritation, you can take this medication with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you take it. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or upset stomach. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Also, be very careful going up and down the stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, itching, joint pain, mood changes, muscle spasms, nausea, palpitations, skin rash, sore throat, tingling in the fingers or toes, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS Metolazone interacts with several other types of drugs: 1. It may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 2. Fenfluramine can increase the blood-pressure-lowering effects of metolazone (which can be dangerous). 3. Indomethacin can decrease the blood-pressure-lowering effects of metolazone, and counteract the desired effects. 4. Cholestyramine and colestipol decrease the absorption of this medication from the gastrointestinal tract. Metolazone should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications). 5. The side effects of amphotericin B, calcium, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, and prednisolone), digitalis, digoxin, lithium, quinidine, sulfonamide antibiotics, and vitamin D may be increased when these drugs are taken concurrently with metolazone. Before starting to take metolazone, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to metolazone or to any other sulfa drugs, including other diuretics, oral antidiabetic medications, or sulfonamide antibiotics. * Tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreatic disease, or systemic lupus erythematosus. * Metolazone can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help avoid potassium loss, take this drug with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. Your doctor may want to have blood tests performed periodically to monitor your potassium levels. * Limit your intake of alcoholic beverages while taking this medication, in order to prevent dizziness. * Do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems unless your doctor directs you to do so. Some of these products can increase blood pressure. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Therefore, blood sugar levels should be carefully monitored by blood or urine tests when this medication is being taken. * Be sure to tell your doctor if you are pregnant. Metolazone can cross the placenta and may cause adverse effects in the fetus. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of this drug can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Diulo 2.5 mg,Diulo 5 mg 0323401.scf,0323402.scfg metolazone logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle metolazone 03235.TXT Copyright (C) 1993 Publications International, Ltd. metoprolol _________________________ BRAND NAME (Manufacturer) Lopressor (Geigy) TYPE OF DRUG Beta-adrenergic blocking agent INGREDIENT metoprolol DOSAGE FORM Tablets (50 mg and 100 mg) STORAGE Metoprolol should be stored at room temperature in a tightly closed, light-resistant container. Metoprolol is used to treat high blood pressure and angina (chest pain) and to prevent additional heart attacks in heart attack patients. Metoprolol belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. These drugs work by controlling nerve impulses along certain nerve pathways. TREATMENT Metoprolol can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach, depending on your doctor's instructions. Try to take the medication at the same time(s) each day. Try not to miss any doses of this medicine. If you do miss a dose of the medication, take the missed dose as soon as possible. However, if the next scheduled dose is within eight hours (if you are taking this medicine only once a day) or within four hours (if you are taking this medicine more than once a day), do not take the missed dose of the medication at all; just return to your regular dosing schedule. Do not double the next dose of the medication. It is important to remember that metoprolol does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Anxiety; cold hands or feet (due to decreased blood circulation to the skin, fingers, and toes); constipation; decreased sexual ability; diarrhea; difficulty in sleeping; drowsiness; dryness of the eyes, mouth, and skin; headache; nausea; nervousness; stomach discomfort; tiredness; or weakness. These side effects should disappear during treatment, as your body adjusts to the medicine. If you are extra-sensitive to the cold, be sure to dress warmly during cold weather. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. Chew sugarless gum or suck on ice chips or a piece of hard candy to relieve mouth or throat dryness. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breathing difficulty or wheezing, confusion, dizziness, fever and sore throat, hair loss, hallucinations, light-headedness, mental depression, nightmares, numbness or tingling of the fingers or toes, rapid weight gain (three to five pounds within a week), reduced alertness, skin rash, swelling, or unusual bleeding or bruising. INTERACTIONS Metoprolol interacts with several other types of medications: 1. Indomethacin, aspirin, or other salicylates may decrease the blood-pressure-lowering effects of beta blockers. 2. Concurrent use of beta blockers and calcium channel blockers or disopyramide can lead to heart failure or very low blood pressure. 3. Cimetidine and oral contraceptives (birth control pills) can increase the blood concentrations of metoprolol, which can result in greater side effects. 4. Alcohol, barbiturates, and rifampin can decrease the effectiveness of metoprolol. 5. Side effects may be increased if beta blockers are taken with clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of a beta blocker and the use of an MAO inhibitor. 6. Beta blockers may antagonize (work against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 7. Beta blockers can also interact with insulin or oral antidiabetic agents, raising or lowering blood sugar levels and masking the symptoms of low blood sugar. 8. The action of beta blockers may be increased if they are used with chlorpromazine, furosemide, or hydralazine, which may have a negative effect. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to any drugs, especially to metoprolol or any other beta blocker (acebutolol, atenolol, carteolol, esmolol, labetalol, nadolol, penbutolol, pindolol, propranolol, or timolol). * Tell your doctor if you now have or have ever had allergies, asthma, hay fever, eczema, slow heartbeat, bronchitis, diabetes mellitus, emphysema, heart or blood vessel disease, kidney disease, liver disease, thyroid disease, or poor circulation in the fingers or toes. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * This medicine may affect your body's response to exercise. Make sure you discuss with your doctor a safe amount of exercise for your medical condition. * It is important that you do not stop taking this medicine without first checking with your doctor. Some conditions may become worse when the medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may want you to reduce gradually the amount of medicine you take before stopping completely to minimize the potential risks. Make sure that you have enough medicine on hand to last through vacations, holidays, and weekends. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking metoprolol. Often, this medication will be discontinued 48 hours prior to any major surgery. * Metoprolol can cause dizziness, drowsiness, light-headedness, or decreased alertness. Exercise caution while driving a car or using any potentially dangerous machinery. * While taking this medicine, do not use any over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, or diet preparation without first checking with your pharmacist or doctor. Some of these medicines can result in high blood pressure when taken at the same time as a beta blocker. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers, when used in very high doses, can cause problems in pregnancy. Adequate studies have not been conducted in humans, but there has been some association between beta blockers used during pregnancy and low birth weight, as well as breathing problems and slow heart rate in newborn infants. However, other reports have shown no effects on newborn infants. Also, tell your doctor if you are breast-feeding an infant. Although this medicine has not been shown to cause problems in breast-fed infants, some of the medicine may pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Lopressor 50 mg,Lopressor 100 mg 0323501.scf,0323502.scf metoprololy logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials "pagetitle metoprolol 03236.TXT Copyright (C) 1993 Publications International, Ltd. metronidazole _________________________ BRAND NAMES (Manufacturers) Femazole (Major) Flagyl (Searle) Metezole (Glenwood) MetroGel (Curatab) metronidazole (various manufacturers) Metryl (Lemmon) Protostat (Ortho) Satric (Savage) TYPE OF DRUG Antibiotic and antiparasitic INGREDIENT metronidazole DOSAGE FORMS Tablets (250 mg and 500 mg) Topical gel (0.75%) STORAGE Metronidazole should be stored at room temperature in a tightly closed, light-resistant container. The topical gel form of this medication should never be frozen. Metronidazole is used to treat a wide variety of infections, including infections of the vagina, urinary tract, lower respiratory tract, bones, joints, intestinal tract, and skin. It is also used topically to treat acne rosacea. It acts by killing bacteria or parasites. TREATMENT In order to avoid stomach irritation, you should take metronidazole with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). Metronidazole works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take three doses a day, the doses should be spaced eight hours apart. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria and parasites are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal cramps, constipation, decreased sexual interest, diarrhea, dizziness, dry mouth, headache, insomnia, irritability, joint pain, loss of appetite, metallic taste in the mouth, nasal congestion, nausea, restlessness, or vomiting. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, convulsions, flushing, hives, itching, joint pain, loss of bladder control, mouth sores, numbness or tingling in the fingers or toes, rash, sense of pressure inside your abdomen, unexplained sore throat and fever, or unusual weakness. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Metronidazole interacts with several other types of medications: 1. Concurrent use of alcohol and metronidazole can lead to a severe reaction (abdominal cramps, nausea, vomiting, headache, and flushing), the severity of which is dependent upon the amount of alcohol ingested. 2. Concurrent use of disulfiram and metronidazole can lead to confusion. 3. The effects of oral anticoagulants (blood thinners, such as warfarin) may be increased by metronidazole, which can lead to bleeding complications. 4. Barbiturates can increase the breakdown of metronidazole, which can decrease its effectiveness. 5. Cimetidine can decrease the breakdown of metronidazole, which can increase the chance of side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders, a central nervous system (brain or spinal cord) disease, or liver disease. * When metronidazole is used to treat a vaginal infection, sexual partners should receive concurrent therapy in order to prevent reinfection. In addition, sexual intercourse should be avoided or condoms should be used until treatment is completed. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require different drug therapy. Therefore, you should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * If this drug makes you dizzy, avoid tasks that require alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant. Although metronidazole appears to be safe, it does cross the placenta, and extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Metronidazole passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. metronidazole pagetitle metronidazole 03237.TXT Copyright (C) 1993 Publications International, Ltd. mexiletine _________________________ BRAND NAME (Manufacturer) Mexitil (Boehringer Ingelheim) TYPE OF DRUG Antiarrhythmic INGREDIENT mexiletine DOSAGE FORM Capsules (150 mg, 200 mg, and 250 mg) STORAGE Mexiletine should be stored at room temperature in a tightly closed container. It should not be exposed to high temperatures. Mexiletine is used to treat arrhythmias (irregular heart rhythms). This medication works through the suppression of irregular heartbeats and the establishment of a more normal rhythm. TREATMENT Mexiletine can be taken with meals or an antacid to decrease stomach irritation. Try to take mexiletine at the same times each day. This medication is most effective when the amount of the drug in your bloodstream is kept at a constant level. Mexiletine should, therefore, be taken at evenly spaced intervals day and night. For example, if you are supposed to take mexiletine three times per day, the doses should be spaced eight hours apart. Your doctor can determine the best dose of mexiletine for you by measuring the amount in your blood. You may need periodic blood tests for this reason. If you miss a dose of this medication and remember within four hours (if you are taking it three times per day) or within six hours (if you are taking it two times per day), take the missed dose and then return to your regular dosing schedule. If more than that time has passed, do not take the missed dose; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, altered taste, changes in appetite, constipation, diarrhea, dizziness, dry skin, fatigue, fluid accumulation, headaches, heartburn, hiccups, hot flashes, light-headedness, nausea, nervousness, sleeping problems, slowed heart rate, sweating, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. You may experience constipation when taking this drug. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about black or tarry stools, chest pain, confusion, coordination difficulties, depression, difficult or painful urination, fainting, fever, hair loss, impotence, palpitations, psychological changes, rash, ringing in the ears, seizures, shortness of breath, speech difficulties, tingling or numbness in the hands or feet, trembling of the hands, or visual disturbances. INTERACTIONS Mexiletine interacts with several other types of medications: 1. Acetazolamide, sodium bicarbonate, or high doses of antacids can decrease the elimination of mexiletine from the body, which can increase the risks of side effects. 2. Cimetidine can increase the blood levels of mexiletine, which can increase the risks of side effects. 3. Phenytoin, rifampin, and phenobarbital can decrease the blood levels of mexiletine, which can decrease its effectiveness. Before starting mexiletine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to mexiletine. * Before taking mexiletine, tell your doctor if you now have or if you have ever had heart block, heart failure, liver disease, low blood pressure, or seizures. * If this drug makes you dizzy or light-headed, do not take part in any activity that requires alertness, such as driving a car. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking mexiletine. * Do not take any over-the-counter (nonprescription) asthma, allergy, sinus, cough, cold, or diet preparation without first checking with your pharmacist or doctor. * Do not stop taking this drug without first consulting your doctor. Stopping antiarrhythmics abruptly may cause a serious change in the activity of your heart. Your doctor may, therefore, want to reduce your dosage gradually. * Be sure to tell your doctor if you are pregnant. Although mexiletine appears to be safe in animals, studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of mexiletine pass into human breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. mexiletinenot W pagetitle mexiletine 03238.TXT Copyright (C) 1993 Publications International, Ltd. miconazole (vaginal) _________________________ BRAND NAMES (Manufacturers) Monistat 3 (Ortho) [*] Monistat 7 (Ortho) [*] Monistat Dual-Pak (Ortho) [*] * Available without a prescription. TYPE OF DRUG Vaginal antifungal agent INGREDIENT miconazole DOSAGE FORMS Vaginal cream (2%) Lotion (2%) Vaginal suppositories (100 mg and 200 mg) STORAGE Store at room temperature in a tightly closed container. Miconazole is used to treat fungal infections of the vagina. This medication is an antifungal agent that prevents the growth and multiplication of the yeast-like fungus Candida. TREATMENT Miconazole vaginal cream and suppositories are packaged with detailed directions for use. Follow these instructions carefully. An applicator will probably be provided. You should wash the vaginal area carefully prior to inserting the cream or suppository. If you begin to menstruate while being treated with miconazole, continue with your regular dosing schedule. If you miss a dose, insert the missed dose as soon as possible. However, if you do not remember until the following day, do not insert the missed dose at all; just return to your regular dosing schedule. Do not double the dose. It is important to continue to insert this medication for the entire time prescribed by your doctor, even if the symptoms disappear before the end of that time. If you stop using the drug too soon, your infection could recur. Usually, one three-day or one seven-day course of miconazole is sufficient. However, it may be repeated if your doctor determines that Candida is still causing your infection. SIDE EFFECTS Minor. You may experience vaginal burning, itching, or irritation when this drug is inserted. This sensation should disappear as your body adjusts to the medication. Do not treat any side effects that occur in the area of the infection unless you first consult your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about headache, hives, pelvic cramps, or skin rash. INTERACTIONS Miconazole (vaginal) does not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to miconazole. * Tell your doctor if you have had other vaginal infections, especially if they have been resistant to treatment. * To prevent reinfection, avoid sexual intercourse or ask your partner to use a condom until treatment is complete. * There may be some vaginal drainage while you are using this medication; therefore, you may want to use a sanitary napkin or panty liner to prevent the staining of clothing. * Wear cotton panties rather than those made of nylon or other nonporous materials while being treated for a fungal infection of the vagina. Also, in order to prevent reinfection, always wear freshly laundered underclothes. * If there is no improvement in your condition, or if irritation in the area continues after several days of treatment, CONTACT YOUR DOCTOR. This medication may be causing an allergic reaction, or it may not be effective against the organism causing your infection. * Miconazole has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medication. You should not give your medication to other women or use it for other infections you might have, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. Small amounts of miconazole have been shown to be absorbed from the vagina, so caution should be used when using this medication. In addition, your doctor may want to change the instructions on how you are to insert this medication if you are pregnant. Also, tell your doctor if you are breast-feeding an infant. It is not known whether miconazole passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. miconazole (vaginal)sage pagetitle miconazole (vaginal) 03239.TXT Copyright (C) 1993 Publications International, Ltd. minocycline _________________________ BRAND NAME (Manufacturer) Minocin (Lederle) TYPE OF DRUG Antibiotic INGREDIENT minocycline DOSAGE FORMS Capsules (50 mg and 100 mg) Tablets (50 mg and 100 mg) Oral suspension (50 mg per 5-ml spoonful, with 5% alcohol) STORAGE Minocycline should be stored at room temperature in tightly closed, light-resistant containers. Minocycline is used to treat a wide range of bacterial infections and to prevent meningococcal meningitis. It acts by preventing the growth of bacteria. This drug kills susceptible bacteria, but it is not effective against viruses or fungi. TREATMENT To avoid stomach upset, you can take this medication with food (unless your doctor directs you to do otherwise). The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Minocycline works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular dosing schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor, even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, dizziness, headache, light-headedness, loss of appetite, nausea, stomach cramps and upset, vomiting, or discoloration of the nails. These side effects should disappear as your body adjusts to the medication. Minocycline can increase your sensitivity to sunlight. You should, therefore, try to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, joint pain, mouth irritation, rash, rectal or vaginal itching, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Minocycline interacts with several other types of medications: 1. It can increase the absorption of digoxin, which may lead to digoxin toxicity. 2. The gastrointestinal side effects (nausea, vomiting, and stomach upset) of theophylline may be increased by minocycline. 3. The dosage of oral anticoagulants (blood thinners, such as warfarin) may need to be adjusted when this medication is started. 4. Minocycline may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking minocycline. Discuss this with your doctor. 5. Antacids, calcium channel blockers, and iron may decrease the effects of this drug if they are taken at the same time. Two to three hours should separate doses of these medications and minocycline. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to minocycline or to oxytetracycline, doxycycline, or tetracycline. * Tell your doctor if you now have or if you have ever had kidney or liver disease. * Minocycline can cause dizziness or light-headedness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Minocycline can affect tests for syphilis; tell your doctor you are taking this medication if you are also being treated for this disease. * Make sure that your prescription for this medication is marked with the expiration date. The drug should be discarded after the expiration date. If the drug is used after this date, serious side effects (especially to the kidneys) could result. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant or if you are breast-feeding an infant. Minocycline crosses the placenta and passes into breast milk. In addition, it should not be used for infants or for children less than eight years of age. This drug can cause permanent discoloration of the teeth and can inhibit tooth and bone growth if used during their development. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Minocin Capsule 50 mg,Minocin Capsule 100 mg,Minocin Tablet 50 mg,Minocin Tablet 100 mg 0323901.scf,0323902.scf,0323903.scf,0323904.scf minocycline logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle minocycline 03240.TXT Copyright (C) 1993 Publications International, Ltd. minoxidil (systemic) _________________________ BRAND NAMES (Manufacturers) Loniten (Upjohn) Minodyl (Quantum) TYPE OF DRUG Antihypertensive INGREDIENT minoxidil DOSAGE FORM Tablets (2.5 mg and 10 mg) STORAGE Minoxidil should be stored at room temperature in a tightly closed container. In its oral tablet form, minoxidil is prescribed by doctors to treat high blood pressure. This medication lowers blood pressure by dilating (widening) the blood vessels in the body. TREATMENT Minoxidil can be taken either on an empty stomach or with food or a full glass of water or milk (as directed by your doctor or pharmacist). In order to become accustomed to taking this medication, try to take it at the same time(s) each day. Minoxidil does not cure high blood pressure, but it will help to control the condition as long as you continue to take the medication. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Fatigue, flushing, headache, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abnormal hair growth, breast tenderness (in both sexes), chest pain, difficult or painful urination, darkening of the skin, palpitations, rapid weight gain (three to five pounds within a week), skin rash, or unusual bleeding or bruising. INTERACTIONS Concurrent use of minoxidil and guanethidine can cause a severe drop in blood pressure. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially if you are taking guanethidine. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to minoxidil. * Before starting to take this medication, be sure to tell your doctor if you have ever had angina, heart failure, a heart attack, kidney disease, pericardial effusions, pheochromocytoma, or a stroke. * Do not take any over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, or diet medications unless you first check with your doctor or pharmacist. Some of these products can increase your blood pressure. * Do not stop taking minoxidil unless you first check with your doctor. Stopping the drug abruptly may lead to a worsening of your high blood pressure. Your doctor may, therefore, want to reduce your dosage gradually or start you on another medication when you stop taking minoxidil in order to prevent this from occurring. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported in the offspring of animals that received large doses of minoxidil during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Minoxidil passes into breast milk, and it is recommended that a woman taking this medication should not breast-feed. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. minoxidil (systemic)abou! pagetitle minoxidil (systemic) 03241.TXT Copyright (C) 1993 Publications International, Ltd. minoxidil (topical) _________________________ BRAND NAME (Manufacturer) Rogaine (Upjohn) TYPE OF DRUG Hair growth stimulant INGREDIENT minoxidil DOSAGE FORM 2% solution (20 mg per ml); 60 ml bottle STORAGE Minoxidil topical solution should be stored at room temperature in a tightly closed container. It should be kept away from heat or flames because the solution is flammable (it contains alcohol). Minoxidil topical solution is used to stimulate hair growth in men who are balding. The drug seems to exert its maximum effect at the crown of the head. The exact way that it works is not known, but it may stimulate hair growth by improving the blood supply to the hair follicles. TREATMENT Before applying topical minoxidil, the hair and scalp should be dry. To avoid skin irritation from the alcohol contained in this product, wait at least 30 minutes after washing or shaving before applying this medication to the scalp. The evening dose of medication should be applied at least 30 minutes before bedtime for more complete absorption of the medication into the scalp. This will prevent the medication from rubbing onto the pillowcase. Complete directions for the use of this product are supplied with the medication. Be sure to ask your doctor or pharmacist for these directions, and follow the instructions carefully. The solution is packaged with three applicators that can be used to apply the solution directly to the scalp. Apply 1 ml to the balding areas of the scalp twice daily (in the morning and evening), unless directed to do otherwise by your doctor. Six sprays with either of the spray applicators deliver a 1-ml dose. The rub-on applicator delivers a 1-ml dose when the bottle is squeezed to fill the top chamber to the black line. The full amount in the chamber should then be applied to the scalp. The total daily dosage should not exceed 2 ml. If finger tips are used to apply the solution, wash hands afterwards to avoid spreading the medication to the eyes or other parts of the body. Two daily applications for up to 4 months may be required before evidence of hair regrowth is observed. The onset and degree of hair regrowth may be variable among different patients treated with this medicine. If hair regrowth occurs, two daily applications are necessary for additional and continued hair growth (unless your doctor directs otherwise). First hair growth may be soft, downy, colorless hair that is barely visible. After further treatment, the new hair should be the same color and thickness as the other hair on the scalp. If one or two applications are missed, restart twice daily applications and return to the usual schedule. Do not attempt to make up for missed doses. It is important to continue to use this medication for the entire time prescribed by your doctor, even if hair growth does not appear within several months. If there is no hair growth after at least four months or more, consult with your doctor, as this medication may not be effective for you. SIDE EFFECTS Minor. Diarrhea, dry skin/scalp, flaking, itching, local redness, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about back pain, chest pain, cough, cold, dizziness, faintness, light-headedness, rapid heart beat, fluid retention, headache, weight gain, or worsening of hair loss. INTERACTIONS Use of abrasive or medicated cleansers, medicated cleaners, medicated cosmetics, or any topical, alcohol-containing preparations (such as after-shave lotions or cologne) along with topical minoxidil solution can result in excessive skin dryness and irritation. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to minoxidil. * Before starting to use this medication, be sure to tell your doctor if you now have or if you have ever had heart disease, high blood pressure, or skin problems, such as dermatitis or local abrasions. * Because this medication contains alcohol, it can cause skin irritation to sensitive areas. You should, therefore, avoid getting this medication in your eyes, nose, or mouth, or in areas surrounding scratches or burns. * Do not apply minoxidil to other areas of the body because absorption of the drug may be increased and the risk of side effects may become greater; do not use along with other topical medication on your scalp, unless directed to do so by your doctor. * Avoid inhaling the spray mist. * If treatment is stopped, new hair growth will probably be shed within a few months. * More frequent applications or use of larger doses (more than 1 ml twice daily) will not speed up the process of hair growth and may increase the possibility of side effects. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. minoxidil (topical) pagetitle minoxidil (topical) 03242.TXT Copyright (C) 1993 Publications International, Ltd. misoprostol _________________________ BRAND NAME (Manufacturer) Cytotec (Searle) TYPE OF DRUG Prostaglandin E1 analog (gastrointestinal protective agent) INGREDIENT misoprostol DOSAGE FORM Tablets (200 mcg) STORAGE Store at room temperature in a tightly closed container. Misoprostol is used to prevent stomach ulcers in people who are taking nonsteroidal anti-inflammatory drugs (NSAIDs). NSAIDs (such as aspirin, carprofen, diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, phenylbutazone, piroxicam, salsalate, sulindac, or tolmetin) are frequently prescribed to treat pain or arthritis. NSAIDs have been shown to cause ulcers in some patients. Misoprostol belongs to a group of chemicals called prostaglandins, which protect the stomach by decreasing the secretion of acid and increasing the secretion of mucus. TREATMENT This medication should be taken with meals and at bedtime, unless otherwise directed by your doctor. If you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. If that is the case, do not take the missed dose at all; just return to your regular dosing schedule. Never take a double dose. Misoprostol treatment should continue for as long as you take a NSAID. This medication should be taken exactly as prescribed by your doctor. SIDE EFFECTS Minor. Abdominal pain, change in appetite, constipation, diarrhea, flatulence, gas and bloating, heartburn, menstrual cramps and abnormal bleeding, nausea, or vomiting. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR ABOUT chest pain, difficulty in breathing, postmenopausal vaginal bleeding, or rash. INTERACTIONS Antacids decrease the absorption of misoprostol into the bloodstream. However, antacids do not appear to decrease the beneficial effects of misoprostol in preventing ulcers. Consult your doctor before using antacids with this product. Before starting to take misoprostol, BE SURE TO TELL YOUR DOCTOR about any other medications you are currently taking. WARNINGS * Misoprostol should not be taken by anyone with a history of allergy to prostaglandins. * Tell your doctor immediately if you develop a rash while taking this medication. * Women should notify their doctors immediately if they experience any abnormal vaginal bleeding while taking this medication. * Women of child-bearing age must use extreme caution not to become pregnant while taking misoprostol. This medication may cause miscarriage. Miscarriages caused by misoprostol may be incomplete, which could lead to potentially dangerous bleeding. ANY WOMAN WHO IS PREGNANT OR PLANS TO BECOME PREGNANT SHOULD NOT TAKE MISOPROSTOL. If you are taking misoprostol and discover that you are pregnant, stop taking the drug immediately and call your doctor. * Nursing mothers should not take misoprostol. The body converts it to misoprostol acid, which can pass into breast milk and cause diarrhea in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. misoprostol pagetitle misoprostol 03243.TXT Copyright (C) 1993 Publications International, Ltd. mitotane _________________________ BRAND NAME (Manufacturer) Lysodren (Bristol) TYPE OF DRUG Antineoplastic (anticancer drug) INGREDIENT mitotane DOSAGE FORM Tablets (500 mg) STORAGE Mitotane should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat cancer of the adrenal gland and Cushing's syndrome (overactive adrenal gland) in patients on whom surgery cannot be performed. Mitotane directly suppresses the activity of the adrenal gland. TREATMENT Initial therapy with mitotane often occurs in the hospital until the dosage is stabilized. Mitotane is potent medication. The dosage is usually adjusted to an individual's needs and tolerance. Be sure you understand your doctor's instructions on how this medication should be taken. Mitotane tablets can be taken either on an empty stomach or, to reduce stomach irritation, with food or milk (unless your doctor directs you to do otherwise). Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, dizziness, drowsiness, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. However, it is important to continue taking this medication despite the nausea and vomiting that may occur. Mitotane can also cause hair loss (which is reversible when the medication is discontinued). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, depression, difficult or painful urination, fainting, flushing, lethargy, muscle aches, or skin rash. INTERACTIONS Mitotane interacts with several other types of medications: 1. Concurrent use of it with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. Mitotane can decrease the effectiveness of adrenocorticosteroids (cortisonelike medications). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS Tell your doctor about unusual or allergic reactions you have had to any medications, especially to mitotane. Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had chronic infections or liver disease. If this medication makes you dizzy, drowsy, or tired or blurs your vision, avoid any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Do not stop taking this medication unless you first check with your doctor. The effects of mitotane on the adrenal glands last several weeks after the drug is stopped. Mitotane can impair your body's response to injury, stress, illness, and infection. If you experience injury, stress, illness, or infection while taking this medication, or shortly after you stop taking it (within several weeks), check with your doctor. You may need to take supplemental adrenal hormone during this period. Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. Be sure to tell your doctor if you are pregnant. Extensive studies of mitotane in pregnant women have not been conducted. The risks should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. It is not known whether mitotane passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. mitotanevera pagetitle mitotane 03244.TXT Copyright (C) 1993 Publications International, Ltd. morphine _________________________ BRAND NAMES (Manufacturers) morphine sulfate (various manufacturers) MS Contin (Purdue-Frederick) MSIR (Purdue-Frederick) RMS (Upsher-Smith) Roxanol (Roxane) Roxanol SR (Roxane) TYPE OF DRUG Analgesic INGREDIENT morphine DOSAGE FORMS Tablets (15 mg and 30 mg) Sustained-release tablets (30 mg and 60 mg) Oral solution (10 mg and 20 mg per 5-ml spoonful, with 10% alcohol; 20 mg per ml) Rectal suppositories (5 mg, 10 mg, and 20 mg) STORAGE Morphine tablets and oral solution should be stored at room temperature in tightly closed, light-resistant containers. The rectal suppositories should be stored in the refrigerator. Morphine is a narcotic analgesic that acts directly on the central nervous system (brain and spinal cord). It is used to relieve moderate to severe pain. TREATMENT In order to avoid stomach upset, you can take morphine with food or milk. This medication works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. The solution form of this medication can be mixed with fruit juices to improve the taste. Measure each dose carefully with a specially designed 5-ml measuring spoon or with the dropper provided. An ordinary kitchen teaspoon is not accurate enough. The sustained-release tablets should be swallowed whole. Chewing, crushing, or crumbling the tablets destroys their sustained-release activity and possibly increases the side effects. To use the suppository form of this medication, remove the foil wrapper and moisten the suppository with water (if the suppository is too soft to insert, refrigerate it for half an hour or run cold water over it before removing the wrapper). Lie on your left side with your right knee bent. Push the suppository into the rectum, pointed end first. Lie still for a few minutes. Try to avoid having a bowel movement for at least an hour (to give the medication time to be absorbed). If you are taking this drug on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, rash, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, difficulty in breathing, excitation, fainting, fatigue, painful or difficult urination, palpitations, restlessness, sore throat and fever, tremors, or weakness. INTERACTIONS Morphine interacts with several other types of drugs: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. 3. The depressant effects of morphine can be dangerously increased by chloral hydrate, glutethimide, beta blockers, and furazolidone. 4. The combination of cimetidine and morphine can cause confusion, disorientation, and shortness of breath. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to morphine or to other narcotic analgesics (such as codeine, hydrocodone, hydromorphone, meperidine, methadone, oxycodone, and propoxyphene). * Tell your doctor if you now have or if you have ever had acute abdominal conditions, asthma, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, emotional disorders, enlarged prostate gland, thyroid disease, or urethral stricture. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Morphine has the potential for abuse and must be used with caution. Usually, it should not be taken for longer than ten days (unless your doctor directs you to do so). Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this drug, or if you have been taking it for long periods of time, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating) when you stop taking it. Your doctor may, therefore, want to reduce the dosage gradually. * Be sure to tell your doctor if you are pregnant. The effects of this medication during the early stages of pregnancy have not been thoroughly studied in humans. However, regular use of morphine in large doses during the later stages of pregnancy can result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. morphine pagetitle morphine 03245.TXT Copyright (C) 1993 Publications International, Ltd. nadolol _________________________ BRAND NAME (Manufacturer) Corgard (Princeton Pharm.) TYPE OF DRUG Beta-adrenergic blocking agent INGREDIENT nadolol DOSAGE FORM Tablets (20 mg, 40 mg, 80 mg, 120 mg, and 160 mg) STORAGE Nadolol should be stored at room temperature in a tightly closed, light-resistant container. Used to treat high blood pressure and angina pectoris (chest pain). It belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. These drugs work by controlling nerve impulses along certain nerve pathways. TREATMENT Nadolol can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach, depending on your doctor's instructions. Try to take the medication at the same time(s) each day. Try not to miss any doses of this medicine. If you do miss a dose, take the missed dose as soon as possible. However, if the next scheduled dose is within eight hours (if you are taking this medicine only once a day) or within four hours (if you are taking this medicine more than once a day), do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Nadolol does not cure high blood pressure, but it will help control your condition as long as you take it. SIDE EFFECTS Minor. Anxiety; cold hands or feet (due to decreased blood circulation to the skin, fingers, and toes); constipation; decreased sexual ability; diarrhea; difficulty in sleeping; drowsiness; dryness of the eyes, mouth, and skin; headache; nausea; nervousness; stomach discomfort; tiredness; or weakness. These side effects should disappear during treatment, as your body adjusts to the medication. If you are extra-sensitive to the cold, be sure to dress warmly during cold weather. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. Sucking on ice chips or chewing sugarless gum helps to relieve mouth or throat dryness. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breathing difficulty or wheezing, confusion, dizziness, fever and sore throat, hair loss, hallucinations, light-headedness, mental depression, nightmares, numbness or tingling of the fingers or toes, rapid weight gain (three to five pounds within a week), reduced alertness, swelling, skin rash, or unusual bleeding or bruising. INTERACTIONS Nadolol interacts with several other types of medications: 1. Indomethacin, aspirin, or other salicylates may decrease the blood-pressure-lowering effects of beta blockers. 2. Concurrent use of beta blockers and calcium channel blockers (diltiazem, nifedipine, verapamil) or disopyramide can potentially lead to heart failure or very low blood pressure. 3. Side effects may be increased when nadolol is taken with cimetidine, clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of a beta blocker and an MAO inhibitor. 4. Alcohol, barbiturates, and rifampin may decrease the blood concentrations of beta blockers, which can result in a decrease in effectiveness. 5. Beta blockers may antagonize (work against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 6. Beta blockers can also interact with insulin or oral antidiabetic agents, raising or lowering blood sugar levels or masking the symptoms of low blood sugar. 7. The concurrent use of nadolol and reserpine can have additive blood-pressure-lowering effects and can slow the heartbeat. 8. The action of beta blockers may be increased if they are used with chlorpromazine, furosemide, hydralazine, or oral contraceptives (birth control pills), which may have a negative effect. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to any medications, especially to nadolol or any other beta blocker (acebutolol, atenolol, carteolol, esmolol, labetalol, metoprolol, penbutolol, pindolol, propranolol, or timolol). * Tell your doctor if you now have or if you have ever had allergies, asthma, hay fever, eczema, slow heartbeat, bronchitis, diabetes mellitus, emphysema, heart or blood vessel disease, kidney disease, liver disease, thyroid disease, or poor circulation in the fingers or toes. * You may want to check your pulse regularly while you are taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * This medicine may affect your body's response to exercise. Make sure you discuss with your doctor a safe amount of exercise for your medical condition. * It is important that you do not stop taking this medicine without first checking with your doctor. Some conditions may become worse when the medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may want you to gradually reduce the amount of medicine you take before stopping completely. Make sure that you have enough medicine on hand to last through vacations, holidays, and weekends. * Before having surgery or any other medical or dental treatment, be sure to tell your physician or dentist that you are taking nadolol. Often, this medication will be discontinued 48 hours prior to any major surgery. * Nadolol can cause dizziness, drowsiness, light-headedness, or decreased alertness. You should, therefore, use caution while driving a car or operating any potentially dangerous machinery. * While taking this medicine, do not use any over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, or diet preparations unless you first check with your pharmacist or doctor. Some of these medicines can result in high blood pressure when combined with a beta blocker. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. Adequate studies have not been conducted in humans, but there has been some association between beta blockers used during pregnancy and low birth weight, as well as breathing problems and slow heart rate in newborn infants. However, other reports have shown no effects on newborn infants. Also, tell your doctor if you are breast-feeding an infant. Although this medicine has not been shown to cause problems in breast-fed infants, some of the medicine may pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Corgard 0324501.scf nadolol logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials !pagetitle nadolol 03246.TXT Copyright (C) 1993 Publications International, Ltd. nafcillin _________________________ BRAND NAME (Manufacturer) Unipen (Wyeth) TYPE OF DRUG Penicillin antibiotic INGREDIENT nafcillin DOSAGE FORMS Tablets (500 mg) Capsules (250 mg) Oral solution (250 mg per 5-ml spoonful) STORAGE Nafcillin tablets and capsules should be stored at room temperature in tightly closed containers. The oral solution should be stored in the refrigerator in a tightly closed container. Any unused portion of the solution should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. Nafcillin is used to treat a wide variety of bacterial infections, especially those caused by Staphylococcus bacteria. It acts by severely injuring the cell membranes of the infecting bacteria, thereby preventing them from growing and multiplying. Nafcillin kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Nafcillin should be taken on an empty stomach or with a glass of water one hour before or two hours after a meal. This medication should never be taken with fruit juices or carbonated beverages because the acidity of these drinks destroys the drug in the stomach. The oral solution should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Nafcillin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are taking four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; and then return to your regular dosing schedule. Try not to skip any doses. Take this drug for the entire time prescribed by your doctor (usually seven to 14 days), even if your symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloating, chills, cough, darkened tongue, difficult or painful urination, difficulty in breathing, fever, irritation of the mouth, muscle aches, rash, rectal or vaginal itching, severe diarrhea, sore throat, or yellowing of the skin or eyes. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Nafcillin interacts with several other types of medications: 1. Probenecid can increase the blood concentrations of this medication. 2. Nafcillin may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use another form of birth control while taking this medication. Discuss this with your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to nafcillin, penicillins, cephalosporin antibiotics, penicillamine, or griseofulvin. * Tell your doctor if you now have or if you have ever had kidney disease, asthma, or allergies. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking nafcillin should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking nafcillin, you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although nafcillin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. nafcillin pagetitle nafcillin 03215.TXT Copyright (C) 1993 Publications International, Ltd. medroxyprogesterone _________________________ BRAND NAMES (Manufacturers) Amen (Carnrick) Curretab (Reid-Provident) Cycrin (Ayerst) medroxyprogesterone acetate (various manufacturers) Provera (Upjohn) TYPE OF DRUG Progesterone INGREDIENT medroxyprogesterone DOSAGE FORM Tablets (2.5 mg, 5 mg, and 10 mg) STORAGE These tablets should be stored at room temperature in a tightly closed container. Medroxyprogesterone is a synthetic progesterone (progesterone is a female hormone that is naturally produced by the body) that is used to treat abnormal menstrual bleeding, difficult menstruation, or lack of menstruation. It can be used for other conditions as determined by your doctor. TREATMENT This medication may cause stomach irritation. To avoid or minimize this side effect, you can take medroxyprogesterone with food or immediately after a meal. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of the medication. SIDE EFFECTS Minor. Acne, dizziness, hair growth, headache, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. This medication may cause tenderness, swelling, or bleeding of the gums. Brushing and flossing your teeth regularly may prevent this. Also, you should see your dentist regularly while you are taking this medicine. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast tenderness; change in menstrual patterns; chest pain; depression; fainting; hair loss; itching; pain in the calves; rapid weight gain (three to five pounds within a week); rash; slurred speech; sudden, severe headache; swelling of the feet or ankles; unusual vaginal bleeding; or yellowing of the eyes or skin. INTERACTIONS Medroxyprogesterone should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to medroxyprogesterone, progestin, or progesterone. * Before starting this drug, tell your doctor if you have ever had cancer of the breast or genitals, clotting disorders, diabetes mellitus, depression, epilepsy, gallbladder disease, asthma, heart disease, kidney disease, liver disease, migraines, porphyria, stroke, or vaginal bleeding. * A package insert should come with this drug. Read it carefully, and ask your doctor if you have any questions. * If this drug makes you dizzy or drowsy, do not take part in any activities that require alertness, such as driving a car or operating potentially dangerous machinery. * Be sure to tell your doctor if you are pregnant. Medroxyprogesterone should not be used during the first four months of pregnancy because it has been shown to cause birth defects. Since hormones have long-term effects on the body, medroxyprogesterone should be stopped at least three months before you attempt to become pregnant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of medroxyprogesterone pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Provera 2.5 mg,Provera 10 mg 0321501.scf,0321502.scf medroxyprogesterone logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle medroxyprogesterone 03216.TXT Copyright (C) 1993 Publications International, Ltd. mefenamic acid _________________________ BRAND NAME (Manufacturer) Ponstel (Parke-Davis) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT mefenamic acid DOSAGE FORM Capsules (250 mg) STORAGE This medication should be stored in a tightly closed container at room temperature away from heat and direct sunlight. Mefenamic acid is used to treat painful menstruation. Mefenamic acid has been shown to block the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not yet fully understood how it works. TREATMENT Mefenamic acid should be taken with food or antacids to lessen stomach irritation (unless your doctor recommends otherwise). Take this medication only as directed by your doctor. Do not take more of it or take it more often; and do not take it for longer than seven days at a time, unless your doctor tells you to do so. Taking too much of this medicine or using it for long periods of time may increase your chances of experiencing serious side effects. It is important to take mefenamic acid on schedule and not to miss any doses. If you do miss a dose, take it as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, soreness of the mouth, unusual sweating, or vomiting. As your body adjusts to the drug, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Avoid operating a car or potentially dangerous equipment. Major. If any side effects are persistent or particularly bothersome, you should report them to your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; difficult or painful urination; palpitations; a problem with hearing; ringing or buzzing in the ears; severe diarrhea; skin rash, hives, or itching; stomach pain; swelling of the feet; tightness in the chest, shortness of breath, or wheezing; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; or yellowing of the eyes or skin. INTERACTIONS Mefenamic acid interacts with several other medications: 1. Anticoagulants (blood thinners) such as warfarin can lead to an increase in bleeding complications if taken at the same time as mefenamic acid. 2. Concurrent use with aspirin, salicylates, or other anti-inflammatory medications can increase stomach irritation. Aspirin may also decrease the effectiveness of mefenamic acid. 3. Probenecid may increase blood levels of mefenamic acid, which may increase the risk of side effects. 4. The action of beta blockers may be decreased by this medication. 5. The drug can interact with diuretics (water pills). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to any medications, especially to mefenamic acid or to any of the other chemically related drugs (aspirin, other salicylates, diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, meclofenamate, indomethacin, ketoprofen, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, or tolmetin). * Before taking mefenamic acid, it is important to tell your doctor if you now have or if you have ever had asthma, bleeding problems, colitis, stomach ulcers or other stomach problems, epilepsy, heart disease, high blood pressure, kidney disease, liver disease, mental illness, or Parkinson's disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Because mefenamic acid can prolong your bleeding time, it is important to tell your doctor or dentist that you are taking this drug before having surgery or any other medical or dental treatment. * If you experience severe diarrhea while taking this medication, check with your doctor immediately. Do not take this medication again unless you first check with your doctor, because severe diarrhea can occur each time you take it. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. These should, therefore, be avoided (unless your doctor directs you to do otherwise). * If this drug is to be given to a child under 12 years of age, discuss the risks as well as the benefits with your doctor. * Be sure to tell your doctor if you are pregnant. This type of medication may cause unwanted effects on the heart or blood flow in the fetus. Also, studies in animals have shown that this type of medicine, if taken late in pregnancy, can increase the length of pregnancy, prolong labor, and cause other problems during delivery. Mefenamic acid has not been shown to cause birth defects in animals; however, studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding. Small amounts of mefenamic acid pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. mefenamic acid-typ pagetitle mefenamic acid 03217.TXT Copyright (C) 1993 Publications International, Ltd. meperidine _________________________ BRAND NAMES (Manufacturers) Demerol (Winthrop-Breon) meperidine hydrochloride (various manufacturers) TYPE OF DRUG Analgesic INGREDIENT meperidine DOSAGE FORMS Tablets (50 mg and 100 mg) Syrup (50 mg per 5-ml spoonful) STORAGE Store at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. Meperidine is a narcotic analgesic (pain reliever) that acts directly on the central nervous system (brain and spinal cord). It is used to relieve moderate to severe pain. TREATMENT In order to avoid stomach upset, you can take meperidine with food or milk. It works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. Measure the syrup form of this medication carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Each dose of the syrup should be diluted in four ounces (half a glass) of water in order to avoid the numbness of the mouth and throat that this medication can cause. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, rash, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness associated with the use of this medication. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, breathing difficulties, excitability, fatigue, painful or difficult urination, restlessness, sore throat and fever, tremors, or weakness. INTERACTIONS Meperidine interacts with several other types of medications: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. 3. The combination of cimetidine and meperidine can cause confusion, disorientation, and shortness of breath. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs, especially to meperidine or to any other narcotic analgesic (such as codeine, hydrocodone, hydromorphone, methadone, morphine, oxycodone, and propoxyphene). * Tell your doctor if you now have or if you have ever had acute abdominal conditions, asthma, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, emotional disorders, enlarged prostate gland, thyroid disease, or urethral stricture. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Take special care going up and down stairs. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist about this drug. * Meperidine has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days (unless your doctor directs you to do so). Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly unless you first consult your doctor. If you have been taking large amounts of this medication or have been taking it for a long period of time, you may experience withdrawal symptoms (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating) when you stop taking it. Your doctor may, therefore, want to reduce your dosage gradually. * Tell your doctor if you are pregnant. The effects of this drug during the early stages of pregnancy have not been thoroughly studied in humans. However, the use of meperidine regularly in large doses during the later stages of pregnancy can result in addiction of the fetus. Also, tell your doctor if you are breast-feeding. Small amounts of this drug may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. meperidineing.w pagetitle meperidine 03218.TXT Copyright (C) 1993 Publications International, Ltd. meprobamate _________________________ BRAND NAMES (Manufacturers) Equanil (Wyeth) meprobamate (various manufacturers) Meprospan (Wallace) Miltown (Wallace) TYPE OF DRUG Sedative/hypnotic INGREDIENT meprobamate DOSAGE FORMS Tablets (200 mg, 400 mg, and 600 mg) Capsules (400 mg) Sustained-release capsules (200 mg and 400 mg) STORAGE Meprobamate tablets and capsules should be stored at room temperature in tightly closed containers. Meprobamate is used to relieve anxiety or tension and is also prescribed as a sleeping aid. It is not exactly clear how meprobamate works, but it is thought to act as a central nervous system (brain and spinal cord) depressant. TREATMENT In order to avoid stomach irritation, you can take meprobamate with food or with a full glass of water or milk. The sustained-release capsules should be swallowed whole. Breaking, chewing, or crushing these capsules destroys their sustained-release activity. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose immediately if you remember within an hour. If more than an hour has passed, skip the dose you missed and wait for the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Diarrhea, dizziness, drowsiness, dry mouth, headache, nausea, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. If you feel dizzy while taking this medication, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, clumsiness, confusion, convulsions, difficulty in breathing, difficult or painful urination, fainting, false sense of well-being, fever, nightmares, numbness or tingling, palpitations, rapid weight gain (three to five pounds within a week), rash, slurred speech, sore throat, unusual bleeding or bruising, or unusual weakness. INTERACTIONS Concurrent use of meprobamate with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to medications, especially to meprobamate, carbromal, carisoprodol, mebutamate, or tybamate. * Before starting to take this medication, be sure to tell your doctor if you have a history of drug abuse or if you now have or have ever had epilepsy, kidney disease, liver disease, or porphyria. * If this drug causes dizziness or drowsiness, avoid tasks that require alertness, such as driving a car or operating potentially dangerous machinery. * This drug has the potential for abuse and must be used with caution. Tolerance develops quickly; do not increase the dosage unless you first consult your doctor. * Do not stop taking this drug abruptly if you have been taking it for two or three months. Stopping abruptly can lead to a withdrawal reaction. Your doctor may, therefore, want to reduce your dosage gradually. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, fainting, shortness of breath) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Meprobamate has been reported to cause birth defects when taken during the first three months of pregnancy. Also, tell your doctor if you are breast-feeding an infant. Meprobamate passes into breast milk and can cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. meprobamate pagetitle meprobamate 03219.TXT Copyright (C) 1993 Publications International, Ltd. meprobamate and aspirin combination _________________________ BRAND NAMES (Manufacturers) aspirin and meprobamate combination (various manufacturers) Epromate (Major) Equagesic (Wyeth) Equazine M (Rugby) Mepro-analgesic (United Research) Meprobamate Compound (Interstate) Mepro Compound (Schein) Meprogese (Geneva Generics) Meprogesic Q (various manufacturers) Micrainin (Wallace) TYPE OF DRUG Sedative and analgesic INGREDIENTS meprobamate and aspirin DOSAGE FORM Tablets (200 mg meprobamate and 325 mg aspirin) STORAGE Meprobamate and aspirin combination tablets should be stored at room temperature in a tightly closed, light-resistant container. Moisture can cause aspirin to decompose. Meprobamate and aspirin combination is used to relieve tension headaches and pain in muscles or joints associated with tension or anxiety. It is unclear exactly how meprobamate works to relieve anxiety and tension, but it appears to be a central nervous system (brain and spinal cord) depressant. TREATMENT In order to avoid stomach irritation, you can take meprobamate and aspirin combination with food or with a full glass of water or milk (unless your doctor directs otherwise). If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, drowsiness, dry mouth, fatigue, headache, light-headedness, nausea, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, buzzing in the ears, chest tightness, clumsiness, confusion, convulsions, difficult or painful urination, fainting, false sense of well-being, fever, headache, loss of coordination, mental depression, nightmares, numbness or tingling, palpitations, rapid weight gain, shortness of breath, skin rash, slurred speech, sore throat, unusual bleeding or bruising, or unusual weakness. INTERACTIONS This medicine interacts with other types of drugs: 1. Concurrent use of meprobamate with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants may cause extreme drowsiness. 2. Aspirin can increase the effects of blood thinners, such as warfarin, thereby leading to a possible increase in bleeding complications. 3. The antigout effects of probenecid and sulfinpyrazone may be blocked by aspirin. 4. Aspirin can increase the gastrointestinal side effects of anti-inflammatory medications, including nonsteroidal anti-inflammatory drugs, alcohol, phenylbutazone, and adrenocorticosteroids (cortisone-like medicines). 5. Ammonium chloride, methionine, and furosemide can increase the side effects of aspirin; and acetazolamide, methazolamide, antacids, and phenobarbital can decrease the effectiveness of aspirin. 6. Aspirin can increase the side effects of methotrexate, penicillin, thyroid hormone, phenytoin, sulfinpyrazone, naproxen, valproic acid, insulin, and oral antidiabetic medicines. 7. It can decrease the effects of spironolactone. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to meprobamate, carbromal, carisoprodol, mebutamate, tybamate, aspirin, methyl salicylate (oil of wintergreen), diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, or tolmetin. * Before starting to take meprobamate and aspirin combination, be sure to tell your doctor if you have a history of drug abuse or if you now have or have ever had asthma, bleeding disorders, congestive heart failure, diabetes, epilepsy, glucose-6-phosphate dehydrogenase (G6PD) deficiency, gout, hemophilia, high blood pressure, kidney disease, liver disease, nasal polyps, peptic ulcers, porphyria, or thyroid disease. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking aspirin. Treatment with aspirin is usually discontinued five to seven days before surgery, to prevent bleeding complications. * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * The use of aspirin in children (about 16 years of age or less) with the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Aspirin-containing products should, therefore, not be given to children with signs of infection. * Diabetic patients should know that large doses of aspirin (greater than eight 325-mg tablets per day) can cause erroneous readings on urine glucose tests. Diabetics should, therefore, check with their doctor before changing their insulin dosage while they are taking this medication. * Meprobamate is a potentially habit-forming medication. It should, therefore, be used with caution. If this drug is being used for several months, tolerance to it may develop. Do not stop taking the drug unless you first consult your doctor. A withdrawal reaction could result from stopping this medication abruptly. Your doctor may, therefore, want to reduce your dosage of the medication gradually. * Because meprobamate and aspirin combination contains aspirin, additional medications that contain aspirin should not be administered without your doctor's approval. Check the labels on any over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold products you might be taking to see if they contain aspirin. * Be sure to tell your doctor if you are pregnant. Meprobamate can cause birth defects if taken during the first three months of pregnancy. In addition, large doses of aspirin taken close to term may prolong labor and may cause bleeding complications in the mother and heart problems in the infant. Also, tell your doctor if you are breast-feeding an infant. Both meprobamate and aspirin pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. meprobamate and aspirin combination pagetitle meprobamate and aspirin combination 03220.TXT @!4!Copyright (C) 1993 Publications International, Ltd. mesoridazine _________________________ BRAND NAME (Manufacturer) Serentil (Boehringer Ingelheim) TYPE OF DRUG Phenothiazine tranquilizer INGREDIENT mesoridazine DOSAGE FORMS Tablets (10 mg, 25 mg, 50 mg, and 100 mg) Oral concentrate (25 mg per ml, with 0.61% alcohol) STORAGE The tablet form of this medicine should be stored at room temperature in a tightly closed, light-resistant container. The oral concentrate form of this medication should be stored in the refrigerator in a tightly closed, light-resistant container. If the oral concentrate turns slightly yellow, the medicine is still effective and can be used. However, if the oral concentrate changes color markedly or has particles floating in it, it should not be used; rather, it should be discarded down the sink. This medication should never be frozen. Mesoridazine is prescribed to treat certain types of mental illness, such as psychosis, the manic phase of manic-depressive illness, and severe behavioral problems in children. This medication is thought to relieve the symptoms of mental illness by blocking certain chemicals involved in nerve transmission in the brain. Mesoridazine may also be used to treat anxiety. TREATMENT To avoid stomach irritation during treatment with mesoridazine, you can take the tablet form of this medication with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). The oral concentrate form of this medication should be measured carefully with the dropper provided and then added to four ounces ( 1/4 cup) or more of water, milk, or a carbonated beverage or to applesauce or pudding immediately prior to administration. To prevent possible loss of effectiveness, the medication should not be diluted in tea, coffee, or apple juice. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose (unless your doctor directs you to do so). The full effects of this medication for the control of emotional or mental symptoms may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Constipation; decreased sweating; diarrhea; discoloration of the urine to red, pink, or red-brown; dizziness; drooling; drowsiness; dry mouth; fatigue; jitteriness; menstrual irregularities; nasal congestion; restlessness; vomiting; or weight gain. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision; breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; tremors; uncoordinated movements; unusual bleeding or bruising; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Mesoridazine interacts with several other types of medications: 1. It can cause extreme drowsiness when combined with alcohol, other central nervous system depressants (such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications), or tricyclic antidepressants. 2. Mesoridazine can decrease the effectiveness of amphetamines, guanethidine, and levodopa. 3. The combination of mesoridazine with antiarrhythmic agents such as quinidine may result in impaired heart function. 4. The effects of epinephrine, monoamine oxidase (MAO) inhibitors, propranolol, phenytoin, and tricyclic antidepressants may be increased when combined with this medication. 5. Lithium may increase the side effects and decrease the effectiveness of this medication. 6. Antacids and antidiarrheal medicines may decrease the absorption of mesoridazine from the gastrointestinal tract. Therefore, at least one hour should separate doses of one of these medicines and mesoridazine. Before starting this drug, BE SURE TO TELL YOUR DOCTOR about any drugs you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to mesoridazine or any other phenothiazine tranquilizers (such as chlorpromazine, fluphenazine, perphenazine, prochlorperazine, promazine, thioridazine, trifluoperazine, and triflupromazine) or to loxapine. * Tell your doctor if you have a history of alcoholism or if you now have or have ever had any blood disease, bone marrow disease, brain disease, breast cancer, blockage in the urinary or digestive tract, drug-induced depression, epilepsy, high or low blood pressure, diabetes mellitus, glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or an enlarged prostate gland. * Tell your doctor about any recent exposure to a pesticide or an insecticide. Mesoridazine may increase the side effects from the exposure. * To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be careful on stairs. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Mesoridazine can decrease sweating and heat release from the body. You should, therefore, avoid becoming overheated by strenuous exercise in hot weather and avoid taking hot baths, showers, and saunas. * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or worsening of your condition. Your doctor may want to reduce the dosage gradually. * If you are planning to have a myelogram, or any other procedure in which dye is injected into your spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral concentrate form of this medication on your skin or clothing; it may cause redness and irritation of the skin. * While taking this medication, do not take any over-the-counter (nonprescription) medication for weight control or for cough, cold, allergy, asthma, or sinus problems without first checking with your doctor. The combination of these drugs with mesoridazine may cause high blood pressure. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unwanted effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem. mesoridazineisks9" <"pagetitle mesoridazine 03221.TXT Copyright (C) 1993 Publications International, Ltd. metaproterenol _________________________ BRAND NAMES (Manufacturers) Alupent (Boehringer Ingelheim) Metaprel (Dorsey) TYPE OF DRUG Bronchodilator INGREDIENT metaproterenol DOSAGE FORMS Tablets (10 mg and 20 mg) Oral syrup (10 mg per 5-ml spoonful) Inhalation aerosol (each spray delivers 0.65 mg) Solution for nebulization (0.6% and 5%) STORAGE Metaproterenol tablets and oral syrup should be stored at room temperature in tightly closed, light-resistant containers. The solution for nebulization should be stored in the refrigerator. The inhalation aerosol should be stored at room temperature away from excessive heat--the contents are pressurized, and the container can explode if heated. Metaproterenol syrup and solution should not be used if they turn brown or contain particles. Metaproterenol is used to relieve wheezing and shortness of breath caused by lung diseases such as asthma, bronchitis, and emphysema. This drug acts directly on the muscles of the bronchi (breathing tubes) to relieve bronchospasm (muscle contractions of the bronchi), thereby allowing air to move to and from the lungs. TREATMENT In order to lessen stomach upset, you can take metaproterenol tablets or oral syrup with food (unless your doctor directs you to do otherwise). The oral syrup form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The inhalation aerosol form of this medication is usually packaged with an instruction sheet. Read the directions carefully before using this medication. The container should be shaken well just before each use. The contents tend to settle on the bottom, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. If more than one inhalation is necessary, wait at least one full minute between doses, so that you receive the full benefit of the first dose. If you miss a dose of this medication and remember within an hour, take it; then follow your regular schedule for the next dose. If you miss the dose by more than an hour or so, just wait until the next scheduled dose. Do not double the dose. If you are also using an aerosol corticosteroid (such as beclomethasone, dexamethasone, or triamcinolone), use the metaproterenol inhalation first and wait about five minutes before using the corticosteroid inhalation, unless otherwise directed by your doctor. This will allow the corticosteroid inhalation to better reach your lungs. SIDE EFFECTS Minor. Anxiety, dizziness, headache, flushing, irritability, insomnia, loss of appetite, muscle cramps, nausea, nervousness, restlessness, sweating, vomiting, weakness, or dryness or irritation of the mouth or throat (from the inhalation aerosol). These side effects should disappear as your body adjusts to the medication. To help prevent dryness and irritation of the mouth or throat, rinse your mouth with water after each dose of the inhalation aerosol. In order to avoid difficulty in falling asleep, check with your doctor to see if you can take the last dose of this medication several hours before bedtime each day. If you feel dizzy, sit or lie down for a while; get up from a sitting or lying position slowly. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, difficult breathing, difficult or painful urination, palpitations, rash, or tremors. INTERACTIONS Metaproterenol interacts with several other types of medications: 1. Beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, timolol) antagonize (act against) this medication, decreasing its effectiveness. 2. Monoamine oxidase (MAO) inhibitors, tricyclic antidepressants, antihistamines, levothyroxine, and over-the-counter (nonprescription) cough, cold, allergy, asthma, diet, and sinus medications may increase the side effects of metaproterenol. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. There may be a change in the dosage requirements of insulin or oral antidiabetic medications when metaproterenol is started. 4. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. 5. The use of metaproterenol with other bronchodilator drugs (either oral or inhaled) can have additive side effects. Discuss this with your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of the medications that are listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had, especially to metaproterenol or any related drug (such as albuterol, amphetamines, ephedrine, epinephrine, isoproterenol, norepinephrine, phenylephrine, phenylpropanolamine, pseudoephedrine, and terbutaline). * Tell your doctor if you now have or if you have ever had diabetes, glaucoma, high blood pressure, epilepsy, heart disease, enlarged prostate gland, or thyroid disease. * This medication can cause dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Do not exceed the recommended dosage of this medication. Excessive use may lead to an increase in side effects or a loss of effectiveness. * Try to avoid contact of the aerosol with your eyes. * Do not puncture, break, or burn the aerosol container. The contents are under pressure and may explode. * Contact your doctor if you do not respond to the usual dose of this medication. It may be a sign of worsening asthma, which may require additional therapy. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this drug passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. metaproterenolatio pagetitle metaproterenol 03222.TXT Copyright (C) 1993 Publications International, Ltd. methadone _________________________ BRAND NAMES (Manufacturers) Dolophine (Lilly) methadone hydrochloride (various manufacturers) TYPE OF DRUG Analgesic INGREDIENT methadone DOSAGE FORMS Tablets (5 mg, 10 mg, and 40 mg) Oral solution (5 mg and 10 mg per 5-ml spoonful, with 8% alcohol, 10 mg per 10-ml spoonful, and 10 mg per 1-ml spoonful) STORAGE Methadone analgesic tablets and oral solution should be stored at room temperature in tightly closed, light-resistant containers. Methadone is a narcotic analgesic (pain reliever) that acts directly on the central nervous system (brain and spinal cord). It is used to relieve moderate to severe pain. It is also used to detoxify narcotic addicts and to provide temporary maintenance treatment for them. TREATMENT To avoid stomach upset, take methadone with food or milk. This medication is most effective if you take it at the onset of pain, rather than when the pain becomes intense. Measure the dose of the solution form of this medication carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, light-headedness, loss of appetite, nausea, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Take special care when operating potentially dangerous equipment. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, breathing difficulties, excitability, fainting, fatigue, flushing, painful or difficult urination, palpitations, pinpoint pupils of eyes, rash, restlessness, sore throat and fever, tremors, or weakness. INTERACTIONS Methadone interacts with several other types of medications: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. 3. Rifampin and phenytoin can decrease the blood levels and effectiveness of methadone. 4. The combination of cimetidine and this medication can cause confusion, disorientation, and shortness of breath. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methadone or to any other narcotic analgesic. * Tell your doctor if you now have or if you have ever had acute abdominal conditions, asthma, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, emotional disorders, enlarged prostate gland, thyroid disease, or urethral stricture. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Methadone has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days (unless your doctor directs you to do so). Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly unless you first consult your doctor. If you have been taking large amounts of this medication or if you have been taking it for long periods of time, you may experience withdrawal symptoms (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating) when you stop taking it. Your doctor may, therefore, want to reduce the dosage gradually. * Be sure to tell your doctor if you are pregnant. The effects of this medication during the early stages of pregnancy have not been thoroughly studied in humans. However, regular use of methadone in large doses during the later stages of pregnancy can result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. methadone pagetitle methadone 03223.TXT Copyright (C) 1993 Publications International, Ltd. methamphetamine _________________________ BRAND NAMES (Manufacturers) Desoxyn (Abbott) Desoxyn Gradumets (Abbott) TYPE OF DRUG Amphetamine INGREDIENT methamphetamine DOSAGE FORMS Tablets (5 mg) Sustained-release tablets (5 mg, 10 mg, and 15 mg) STORAGE Methamphetamine should be stored at room temperature in a tightly closed container. This medication is a central nervous system stimulant that increases mental alertness and decreases fatigue. It is used to treat narcolepsy (a disorder involving uncontrollable desires to sleep or actual sleep attacks that occur in a rapid and unpredictable manner) and abnormal behavioral syndrome in children (hyperkinetic syndrome or attention deficit disorder). The way this medication acts to control abnormal behavioral syndrome in children is not clearly understood. Methamphetamine is also used as an appetite suppressant during the first few weeks of dieting (while you are trying to establish new eating habits). It is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness as an appetite suppressant lasts for only short periods (three to 12 weeks), however. TREATMENT In order to avoid stomach upset, you can take methamphetamine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). If this medication is being used to treat narcolepsy or abnormal behavioral syndrome in children, the first dose each day should be taken soon after awakening. Subsequent doses should be spaced at four- to six-hour intervals. If this medication has been prescribed as a diet aid, it should be taken one hour before each meal. The sustained-release form of this medication should be swallowed whole. Breaking, chewing, or crushing these tablets destroys their sustained-release activity and may increase the side effects. In order to avoid difficulty in falling asleep, the last dose of this medication each day should be taken four to six hours before bedtime (tablets) or ten to 14 hours before bedtime (sustained-release tablets). If you miss a dose of this drug, take the missed dose as soon as possible, unless it is time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal cramps, constipation, diarrhea, dizziness, dry mouth, false sense of well-being, insomnia, irritability, loss of appetite, nausea, restlessness, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the medication. In order to prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. If you feel dizzy, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, fatigue, headaches, impotence, mental depression, palpitations, rash, sweating, tightness in the chest, tremors, or uncoordinated movements. INTERACTIONS Methamphetamine interacts with several other types of medications: 1. Use of it within 14 days of a monoamine oxidase (MAO) inhibitor (isocarboxazid, pargyline, phenelzine, tranylcypromine) can result in high blood pressure and other side effects. 2. Barbiturate medications, phenothiazine tranquilizers (especially chlorpromazine), and tricyclic antidepressants can antagonize (act against) this medication. 3. Amphetamines (such as methamphetamine) can decrease the blood-pressure-lowering effects of antihypertensive medication (especially guanethidine) and may alter insulin and oral antidiabetic medication dosage requirements in diabetic patients. 4. The side effects of other central nervous system stimulants, such as caffeine, over-the-counter (nonprescription) appetite suppressants, and asthma, allergy, cough, sinus, or cold preparations may be increased by methamphetamine. 5. Acetazolamide and sodium bicarbonate can decrease the elimination of methamphetamine from the body, thereby prolonging its action and increasing the risk of side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methamphetamine or other central nervous system stimulants (such as albuterol, amphetamine, dextroamphetamine, ephedrine, isoproterenol, metaproterenol, norepinephrine, phenylephrine, phenylpropanolamine, pseudoephedrine, and terbutaline). * Tell your doctor if you have a history of drug abuse or if you have ever had problems with agitation, diabetes mellitus, glaucoma, heart or blood vessel disease, high blood pressure, or thyroid disease. * Methamphetamine can mask the symptoms of extreme fatigue and can cause dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Methamphetamine is related to amphetamine and may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). Therefore, you should not increase the dosage of this medication or take it for longer than 12 weeks, unless you first consult your doctor. It is also important that you not stop taking this medication abruptly; fatigue, sleep disorders, mental depression, nausea, vomiting, stomach cramps, or pain could occur. Your doctor may, therefore, want to reduce your dosage gradually. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, fainting, difficulty in breathing) in certain susceptible individuals. * Long-term methamphetamine use in children may cause unwanted effects on growth. The benefits and risks of the drug should be thoroughly discussed before treatment begins. * Be sure to tell your doctor if you are pregnant. Although side effects in humans have not been studied, some of the amphetamines can cause heart, brain, and biliary tract abnormalities in the fetuses of animals that receive large doses of these drugs during pregnancy. Also, tell your doctor if you are breastfeeding an infant. Small amounts of this type of drug pass into breast milk and can cause excessive stimulation in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. methamphetamine pagetitle methamphetamine 03224.TXT Copyright (C) 1993 Publications International, Ltd. methenamine _________________________ BRAND NAMES (Manufacturers) Hiprex (Merrell Dow) Mandameth (Major) Mandelamine (Parke-Davis) methenamine hippurate (various manufacturers) methenamine mandelate (various manufacturers) Urex (Riker) TYPE OF DRUG Antibiotic INGREDIENT methenamine DOSAGE FORMS Tablets (500 mg and 1 g) Enteric-coated tablets (500 mg and 1 g). Oral suspension (250 mg and 500 mg per 5-ml spoonful) Oral granules (1 g packets) STORAGE Methenamine tablets, oral suspension, and granules should be stored at room temperature in tightly closed containers. This medication should never be frozen. Methenamine is used to prevent and treat bacterial infections of the urinary tract. TREATMENT In order to avoid stomach irritation, you should take methenamine with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The enteric-coated tablets should be swallowed whole. Breaking, crushing, or chewing these tablets increases their gastrointestinal side effects. If you are taking the oral granules, the contents of the packet should be dissolved in two to four ounces of water just before you take the dose. Try not to miss any doses of this medication. If you do miss a dose, take it immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take the missed dose immediately; space the following dose about halfway through the regular interval between doses; and then continue with your regular dosing schedule. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. This medication works best when your urine is acidic (ph 5.5 or below). You may want to talk to your doctor about testing the acidity of your urine before you begin treatment with methenamine. SIDE EFFECTS Minor. Abdominal cramps, diarrhea, headache, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about difficulty in breathing, difficult or painful urination, itching, mouth sores, rapid weight gain (three to five pounds within a week), shortness of breath, or skin rash. INTERACTIONS Methenamine interacts with several other types of medications: 1. Sodium bicarbonate, antacids, acetazolamide, and diuretics (water pills) can decrease the effectiveness of methenamine by preventing its conversion to formaldehyde. 2. Methenamine can increase the side effects (to the kidneys) of sulfonamide antibiotics. Before starting to take methenamine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methenamine. * Before starting to take methenamine, be sure to tell your doctor if you now have or if you have ever had dehydration, kidney disease, or liver disease. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (fainting, rash, shortness of breath) in certain susceptible individuals. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * If the symptoms of your infection do not improve in several days, CONTACT YOUR DOCTOR. * In order for this medication to work properly, it is necessary that your urine remain acidic. You should, therefore, avoid foods that cause the urine to become alkaline such as milk products. Your doctor may also want you to take vitamin C to help keep the urine acidic. * Be sure to tell your doctor if you are pregnant. Although methenamine appears to be safe during pregnancy, it does cross the placenta, and extensive studies have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of methenamine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. 0322401.scf methenamine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle methenamine 03225.TXT Copyright (C) 1993 Publications International, Ltd. methocarbamol _________________________ BRAND NAMES (Manufacturers) Marbaxin (Vortech) methocarbamol (various manufacturers) Robaxin (Robins) TYPE OF DRUG Muscle relaxant INGREDIENT methocarbamol DOSAGE FORM Tablets (500 mg and 750 mg) STORAGE Methocarbamol should be stored at room temperature in a tightly closed container. This medication is used to relieve the discomfort of painful muscle aches and spasms. It should be used in conjunction with rest, physical therapy, and other measures that your doctor may prescribe. It is not clear exactly how methocarbamol works, but it is thought to relieve muscle spasms by acting as a central nervous system (brain and spinal cord) depressant. TREATMENT Methocarbamol can be taken either on an empty stomach or with food or a full glass of water or milk (as directed by your doctor). These tablets can be crushed and mixed with food or liquid if you have trouble swallowing them. If you miss a dose of this medication and remember within an hour, take the missed dose immediately. If more than an hour has passed, do not take the missed dose; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Dizziness, drowsiness, headache, light-headedness, metallic taste in the mouth, nausea, or stomach upset. These side effects should disappear as your body adjusts to the medication. This medication can cause the urine to darken to brown, black, or green. This is a harmless effect. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Be especially careful when driving an automobile or operating potentially dangerous equipment. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fainting, fatigue, fever, flushing, nasal congestion, skin rash, uncoordinated movements, or visual disturbances. INTERACTIONS Methocarbamol interacts with several other types of medications: 1. Concurrent use of methocarbamol with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. Methocarbamol can decrease the effectiveness of pyridostigmine. Before starting to take methocarbamol, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methocarbamol. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had brain disease. * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires mental alertness, such as driving a car or operating potentially dangerous machinery. * Be sure to tell your doctor if you are pregnant. Although methocarbamol appears to be safe, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of methocarbamol pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. methocarbamol pagetitle methocarbamol 03226.TXT Copyright (C) 1993 Publications International, Ltd. methotrexate _________________________ BRAND NAME (Manufacturer) Methotrexate (Lederle) TYPE OF DRUG Antineoplastic (anticancer drug), antipsoriatic INGREDIENT methotrexate DOSAGE FORM Tablets (2.5 mg) STORAGE Methotrexate should be stored at room temperature in a tightly closed container. Methotrexate is used to treat certain types of cancer and severe psoriasis. It works by slowing the growth rate of rapidly proliferating cells. TREATMENT In order to avoid stomach irritation, you can take methotrexate with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss more than two doses in a row, CONTACT YOUR DOCTOR. SIDE EFFECTS Minor. Abdominal distress, fatigue, loss of appetite, nasal congestion, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Methotrexate also causes hair loss, which is reversible when the medication is stopped. This medication can increase your sensitivity to sunlight. You should, therefore, try to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about back pain, blurred vision, convulsions, diarrhea, difficult or painful urination, drowsiness, fever, headache, itching, menstrual changes, mouth sores, rash, severe abdominal pain, skin color changes, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Methotrexate interacts with several other types of medications: 1. Concurrent use of alcohol and methotrexate can lead to an increased risk of liver damage. 2. Methotrexate can block the effectiveness of antigout medications. 3. Phenylbutazone, probenecid, phenytoin, tetracycline, aspirin, chloramphenicol, salicylates, naproxen, ketoprofen, and sulfonamide antibiotics can increase the blood levels of methotrexate, which can lead to an increase in serious side effects. 4. Methotrexate can increase the effects of the blood thinner warfarin, which can lead to bleeding complications. 5. Folic acid vitamins may decrease the effect of this medication. Before starting to take methotrexate, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methotrexate. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders, gout, infection, kidney disease, liver disease, or inflammation of the gastrointestinal tract. * If this drug makes you dizzy or drowsy, be careful going up and down stairs, and do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * While you are taking methotrexate, you should drink plenty of fluids so that you urinate often (unless your doctor directs you to do otherwise). This helps prevent kidney and bladder problems during therapy. * You should not be immunized or vaccinated while taking methotrexate. The vaccination or immunization will not be effective and may lead to an infection if a live-virus vaccine is used. * Methotrexate is a potent medication that can cause serious side effects. Your doctor will, therefore, want to monitor your therapy carefully with blood tests. * Be sure to tell your doctor if you are pregnant. Methotrexate has been shown to cause birth defects or death of the fetus. Effective contraception should be used during treatment and for at least eight weeks after treatment is stopped. Also, tell your doctor if you are breast-feeding an infant. Methotrexate passes into breast milk and can cause side effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. methotrexatetly y pagetitle methotrexate 03227.TXT Copyright (C) 1993 Publications International, Ltd. methyclothiazide _________________________ BRAND NAMES (Manufacturers) Aquatensen (Wallace) Enduron (Abbott) Ethon (Major) methyclothiazide (various manufacturers) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT methyclothiazide DOSAGE FORM Tablets (2.5 mg and 5 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Methyclothiazide is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by certain conditions, such as heart failure, cirrhosis of the liver, and kidney disease, and by the long-term use of some medications. This medication reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT This medication can be taken with a glass of milk or with a meal to decrease stomach irritation (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 P.M.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or upset stomach. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fainting, fever, itching, joint pain, mood changes, muscle pain or spasms, nausea, palpitations, skin rash, sore throat, tingling in the fingers or toes, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS Methyclothiazide interacts with several other types of medications: 1. It may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 2. Fenfluramine can increase the blood-pressure-lowering effects of methyclothiazide (which can be dangerous to your health). 3. Indomethacin can decrease the blood-pressure-lowering effects of methyclothiazide, thereby counteracting the desired effects. 4. Cholestyramine and colestipol decrease the absorption of this medication from the gastrointestinal tract. Methyclothiazide should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if one of those medications has also been prescribed). 5. The side effects of amphotericin B, calcium, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, and prednisolone), digitalis, digoxin, lithium, quinidine, sulfonamide antibiotics, and vitamin D may be increased by methyclothiazide. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methyclothiazide or any other sulfa drug, including other diuretics, oral antidiabetic medications, or sulfonamide antibiotics. * Before you start taking methyclothiazide, tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreatic disease, or systemic lupus erythematosus. * Methyclothiazide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help avoid potassium loss, take this drug with a glass of fresh or frozen orange juice or cranberry juice or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. Your doctor may want to have blood tests performed periodically in order to monitor your potassium levels. * In order to avoid dizziness or fainting while taking this medication, try not to stand for long periods of time; avoid drinking excessive amounts of alcohol; and try not to get overheated (avoid strenuous exercise in hot weather and do not take hot baths, showers, and saunas). * Do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems, unless your doctor directs you to do so. Some of these products can cause an increase in blood pressure. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise the blood sugar level in diabetic patients. Therefore, blood sugar levels should be carefully monitored by blood or urine tests when this medication is being taken. * Be sure to tell your doctor if you are pregnant. Methyclothiazide can cross the placenta and may cause adverse effects in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of this drug can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. methyclothiazide pagetitle methyclothiazide 03228.TXT Copyright (C) 1993 Publications International, Ltd. methyldopa _________________________ BRAND NAMES (Manufacturers) Aldomet (Merck Sharp & Dohme) Amodopa (Major) methyldopa (various manufacturers) TYPE OF DRUG Antihypertensive INGREDIENT methyldopa DOSAGE FORMS Tablets (125 mg, 250 mg, and 500 mg) Oral suspension (250 mg per 5-ml spoonful, with 1% alcohol) STORAGE Store at room temperature in a tightly closed, light-resistant container. This drug should never be frozen. Methyldopa is used to treat high blood pressure. It is not clear exactly how methyldopa works, but it is thought to act on the central nervous system (brain and spinal cord) to prevent the release of chemicals responsible for maintaining high blood pressure. TREATMENT In order to prevent stomach irritation, you can take methyldopa with food or a full glass of water or milk. Try to take it at the same time(s) each day (unless your doctor directs you to do otherwise). The oral suspension should be shaken well before each dose is measured. The contents tend to settle to the bottom of the bottle, so the bottle should be shaken to distribute the medication evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Methyldopa does not cure high blood pressure, but it will help to control the condition as long as you take it. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, dizziness, drowsiness, dry mouth, gas, headache, light-headedness, loss of appetite, nasal congestion, nausea, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any effects that are persistent or bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal distention, blurred vision, breast enlargement (in both sexes), chest pain, confusion, decreased sexual ability, depression, difficulty in breathing, fainting, fatigue, fever, inflamed salivary glands, insomnia, nightmares, numbness or tingling, rapid weight gain (three to five pounds within a week), severe stomach cramps, sore joints, sore or "black" tongue, tremors, unusual bleeding or bruising, unusual body movements, or yellowing of the eyes or skin. INTERACTIONS Methyldopa interacts with several other types of drugs: 1. It can increase or decrease the antiparkinsonism effects of levodopa. 2. The use of a monoamine oxidase (MAO) inhibitor within 14 days of methyldopa can cause headaches, severe hypertension, and hallucinations. 3. The combination of methyldopa and metho-trimeprazine can cause a severe drop in blood pressure; methyldopa and haloperidol can cause irritability; methyldopa and phenoxybenzamine can cause urinary retention; and methyldopa and alcohol can cause dizziness and fainting. 4. The effects of methyldopa may be increased by verapamil and fenfluramine. 5. Methyldopa can also increase the side effects of tolbutamide and lithium. 6. Methyldopa may increase the effects of norepinephrine and phenylpropanolamine, which may increase blood pressure. Before starting to take methyldopa, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methyldopa. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had anemia, angina, kidney disease, liver disease, mental depression, Parkinson's disease, or stroke. * In order to avoid dizziness or fainting while you are taking this medication, try not to stand for long periods of time; avoid drinking excessive amounts of alcohol; and try not to get overheated (avoid strenuous exercise in hot weather and do not take hot baths, showers, and saunas). * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before surgery or other medical or dental treatment, be sure that you tell your doctor or dentist you are taking this medication. * Before taking any over-the-counter (nonprescription) allergy, asthma, sinus, cough, cold, or diet product, check with your doctor or pharmacist. Some of these products can cause an increase in blood pressure. * Do not stop taking this medication unless you first check with your doctor. If this drug is stopped abruptly, you could experience a sudden rise in blood pressure. Your doctor may, therefore, want to decrease your dosage gradually. * If you have an unexplained fever, especially during the first two or three weeks after starting to take this medication, CONTACT YOUR DOCTOR. Fever can be a sign of a serious reaction to methyldopa. * Occasionally, during the second or third month of therapy, drug tolerance may develop. If you notice a decrease in effectiveness of methyldopa, contact your doctor. * Before donating blood or receiving a blood transfusion, be sure that the doctor knows you are taking this medication. It can cause changes in your blood cells. * Aldomet suspension contains sodium bisulfite, which may cause allergic-type reactions (hives, itching, wheezing) in certain susceptible persons. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe, extensive studies in women during pregnancy have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of methyldopa pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. methyldopat ta pagetitle methyldopa 03229.TXT %Copyright (C) 1993 Publications International, Ltd. methyldopa and hydrochlorothiazide combination _________________________ BRAND NAMES (Manufacturers) Aldoril (Merck Sharp & Dohme) methyldopa and hydrochlorothiazide combination (various manufacturers) TYPE OF DRUG Antihypertensive and diuretic INGREDIENTS methyldopa and hydrochlorothiazide DOSAGE FORM Tablets (250 mg methyldopa and 15 mg hydrochlorothiazide; 250 mg methyldopa and 25 mg hydrochlorothiazide; 500 mg methyldopa and 30 mg hydrochlorothiazide; 500 mg bmethyldopa and 50 mg hydrochlorothiazide) STORAGE These tablets should be stored at room temperature in a tightly closed container. Methyldopa and hydrochlorothiazide combination is used to treat high blood pressure. It is not exactly clear how methyldopa works, but it is thought to act on the central nervous system (brain and spinal cord) to prevent the release of chemicals responsible for maintaining high blood pressure. Hydrochlorothiazide is a diuretic (water pill), which reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To avoid stomach irritation, you can take methyldopa and hydrochlorothiazide combination with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). In order to become accustomed to taking this medication, try to take it at the same time(s) each day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. Methyldopa and hydrochlorothiazide combination does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; return to your regular dosing schedule. Do not double the dose. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, dizziness, drowsiness, gas, headache, light-headedness, loss of appetite, nasal congestion, or increased urination. These effects should disappear as your body adjusts to the drug. This medication can increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal distention, blurred vision, breast enlargement (in both sexes), chest pain, confusion, decreased sexual ability, depression, difficulty in breathing, dry mouth, fainting, fatigue, fever, inflamed salivary glands, insomnia, joint pains, muscle pains or spasms, nausea, nightmares, numbness or tingling, rapid weight gain (three to five pounds within a week), severe stomach cramps, sore or "black" tongue, swelling of the feet or ankles, thirst, tremors, unusual bleeding or bruising, unusual body movements, vomiting, weakness, or yellowing of the eyes or skin. INTERACTIONS This medicine interacts with other types of drugs: 1. Methyldopa can either increase or decrease the antiparkinsonism effects of levodopa. 2. The use of a monamine oxidase (MAO) inhibitor within 14 days of methyldopa can cause headaches, severe hypertension, and hallucinations. 3. The combination of methyldopa and methotrimeprazine can cause a severe drop in blood pressure; methyldopa and haloperidol can cause irritability; methyldopa and phenoxybenzamine can cause urinary retention; and methyldopa and alcohol can cause dizziness and fainting. 4. The effects of methyldopa may be increased by verapamil and fenfluramine, which may have a negative effect. 5. Methyldopa can increase the side effects of tolbutamide and lithium. 6. Methyldopa may increase the effects of norepinephrine and phenylpropanolamine, which may increase blood pressure. 7. Hydrochlorothiazide can decrease the effectiveness of oral anticoagulants (blood thinners, such as warfarin), antigout medications, insulin, oral antidiabetic medications, and methenamine. 8. Fenfluramine may increase the blood-pressure-lowering effects of hydrochlorothiazide, and indomethacin may decrease its blood-pressure-lowering effects. 9. Cholestyramine and colestipol can decrease the absorption of hydrochlorothiazide from the gastrointestinal tract. Therefore, this medication should be taken one hour before or four hours after a dose of either of these other drugs. 10. The side effects of amphotericin B, calcium, adrenocorticosteroids (cortisone-like medicines), digitalis, digoxin, lithium, quinidine, sulfonamide antibiotics, and vitamin D may be increased by hydrochlorothiazide. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to methyldopa or hydrochlorothiazide or to any other sulfa medication (diuretics, oral antidiabetic medicines, sulfonamide antibiotics, dapsone, or sulfone). * Before starting to take this medication, be sure to tell your doctor if you have ever had anemia, angina, diabetes mellitus, gout, kidney disease, liver disease, mental depression, Parkinson's disease, pancreatitis, or stroke. * A doctor generally does not prescribe this drug or other "fixed-dose" products as the first choice in the treatment of high blood pressure. The patient should initially receive each ingredient singly. If the response is adequate to the dose contained in this product, it can then be substituted. The advantage of a combination product is its increased convenience. * This medication can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, CONTACT YOUR DOCTOR. To help prevent this problem, your doctor may want to have blood tests performed periodically to monitor your potassium levels. To help avoid potassium loss, take this medication with a glass of fresh or frozen orange juice or cranberry juice or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, until you discuss it with your doctor. Too much potassium can also be dangerous. * To prevent severe water loss (dehydration) while taking hydrochlorothiazide, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * Hydrochlorothiazide can raise blood sugar levels in diabetic patients. Blood sugar should, therefore, be monitored carefully when this medication is being taken. * In order to avoid dizziness or fainting while taking this medication, try not to stand for long periods of time; avoid drinking excessive amounts of alcohol; and try not to get overheated (avoid strenuous exercise in hot weather and do not take hot baths, showers, and saunas). * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires alertness. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Before taking any over-the-counter (nonprescription) allergy, asthma, sinus, cough, cold, or diet product, check with your doctor or pharmacist. * Do not stop taking this medication unless you first check with your doctor. If this drug is stopped abruptly, you could experience a sudden rise in blood pressure. Your doctor may, therefore, want to decrease your dosage gradually. * If you have an unexplained fever, especially during the first two to three weeks after starting to take this medication, CONTACT YOUR DOCTOR. Fever can be a sign of a serious reaction to methyldopa. * Tolerance to this drug can develop, usually during the second or third month of therapy. If you notice a decrease in effectiveness of this drug, contact your doctor. * Before donating blood or receiving a blood transfusion, be sure you let the doctor know that you are taking this medication. Methyldopa can cause a change in the blood cells. * Be sure to tell your doctor if you are pregnant. Methyldopa and hydrochlorothiazide cross the placenta and may cause adverse effects in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Small amounts of both of these drugs pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Aldoril 250 + 15 mg,Aldoril 250 + 25 mg,Aldoril 500 + 30 mg,Aldoril 500 + 50 mg 0322901.scf,0322902.scf,0322903.scf,0322904.scfW' methyldopa and hydrochlorothiazide combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials F*pagetitle methyldopa and hydrochlorothiazide combination 03230.TXT Copyright (C) 1993 Publications International, Ltd. methylphenidate _________________________ BRAND NAMES (Manufacturers) methylphenidate hydrochloride (various manufacturers) Ritalin (Ciba) Ritalin-SR (Ciba) TYPE OF DRUG Adrenergic INGREDIENT methylphenidate DOSAGE FORMS Tablets (5 mg, 10 mg, and 20 mg) Sustained-release tablets (20 mg) STORAGE Methylphenidate should be stored at room temperature in tightly closed, light-resistant containers. Methylphenidate is a central nervous system (brain and spinal cord) stimulant that increases mental alertness and decreases fatigue. It is used in the treatment of narcolepsy (a disorder involving uncontrollable desires to sleep or actual sleep attacks that occur in a rapid and unpredictable manner), mild depression, and abnormal behavioral syndrome in children (hyperkinetic syndrome or attention deficit disorder). The way this medication works in abnormal behavioral syndrome in children is not clearly understood. TREATMENT In order to avoid stomach upset, you can take methylphenidate with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). If methylphenidate is being used to treat narcolepsy or abnormal behavioral syndrome in children, the first dose should be taken soon after awakening. In order to avoid difficulty in falling asleep, the last dose of the regular tablets should be taken four to six hours before bedtime each day (the sustained-release tablets should be taken at least eight hours before bedtime). The sustained-release tablets should be swallowed whole. Chewing, crushing, or breaking these tablets destroys their sustained-release activity and may increase the side effects. If you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, dizziness, drowsiness, dry mouth, headache, insomnia, loss of appetite, nausea, nervousness, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. If you feel dizzy, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, fever, hair loss, hallucinations, hives, joint pain, mood changes, palpitations, rash, seizures, sore throat, uncoordinated movements, or bleeding or bruising. INTERACTIONS Methylphenidate interacts with several other types of medications: 1. Use of it within 14 days of a monoamine oxidase (MAO) inhibitor (such as isocarboxazid, pargyline, phenelzine, tranylcypromine) can result in severe high blood pressure. 2. Methylphenidate can decrease the blood-pressure-lowering effects of antihypertensive medications (especially guanethidine). 3. Acetazolamide and sodium bicarbonate can decrease the elimination of methylphenidate from the body, thereby prolonging its action and increasing the risk of side effects. 4. Methylphenidate can decrease the elimination and increase the side effects of oral anticoagulants (blood thinners, such as warfarin), tricyclic antidepressants (such as amitriptyline, desipramine, imipramine, and nortriptyline), anticonvulsants (such as phenytoin, phenobarbital, and primidone), and phenylbutazone. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to methylphenidate. * Tell your doctor if you have ever had epilepsy, glaucoma, high blood pressure, motor tics, Tourette's syndrome, anxiety, agitation, depression, or tension. * Methylphenidate can mask the symptoms of extreme fatigue and can cause dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. A child taking methylphenidate should be careful while engaging in physical activity. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor that you are taking this medication. * Methylphenidate is related to amphetamine and may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). You should not increase the dosage of this medication or take it for longer than the prescribed time unless you first consult your doctor. It is also important that you not stop taking this medication abruptly; fatigue, sleep disorders, mental depression, nausea, vomiting, or stomach cramps or pain could occur. Your doctor may want to decrease the dosage gradually in order to prevent these side effects. * Methylphenidate can slow growth in children. Therefore, if this medication is being taken by a child, your doctor may recommend drug-free periods during school holidays and summer vacations. Growth spurts often occur during these drug-free periods. * Children may be more sensitive to certain side effects such as loss of appetite, stomach pain, trouble sleeping, and weight loss. * If cocaine is being used now or was used in the past, taking methylphenidate may cause severe nervousness, irritability, trouble sleeping, or possibly irregular heartbeat or seizures. * Be sure to tell your doctor if you are pregnant. Effects of this drug during pregnancy have not been thoroughly studied in either humans or animals. Also, tell your doctor if you are breast-feeding an infant. Small amounts of methylphenidate may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Ritalin 0323001.scf methylphenidate logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials rrit] pagetitle methylphenidate 03199.TXT Copyright (C) 1993 Publications International, Ltd. labetalol _________________________ BRAND NAMES (Manufacturers) Normodyne (Schering) Trandate (Allen & Hanburys) TYPE OF DRUG Alpha/beta-adrenergic blocking agent INGREDIENT labetalol DOSAGE FORM Tablets (100 mg, 200 mg, and 300 mg) STORAGE Labetalol should be stored at room temperature in a tightly closed container. Labetalol is used to treat high blood pressure. Labetalol belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. These drugs work by controlling impulses along certain nerve pathways. TREATMENT Labetalol can be taken either on an empty stomach or with food or milk (as directed by your doctor). In order to become accustomed to taking this medication, try to take it at the same time(s) each day. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. Labetalol does not cure high blood pressure, but it will help control the condition. SIDE EFFECTS Minor. Abdominal pain; change in taste; diarrhea; dizziness; drowsiness; dryness of the eyes, mouth, and skin; fainting; fatigue; headache; heartburn; light-headedness; nasal congestion; nausea; numbness or tingling of the fingers or toes; scalp tingling; or vomiting. These side effects should disappear as your body adjusts to this medication. If you are extra-sensitive to the cold, be sure to dress warmly during cold weather. Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. Sucking on ice chips or chewing sugarless gum helps to relieve mouth and throat dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by alternately pushing one foot against the floor while raising the other foot slightly, so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about cold hands or feet (due to decreased blood circulation to skin, fingers, and toes), confusion, depression, difficult or painful urination, impotence, itching, muscle cramps, rapid weight gain (three to five pounds within a week), rash, sore throat and fever, unusual bleeding or bruising, vision disturbances, wheezing or difficulty in breathing, or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Indomethacin, aspirin, and other salicylates may decrease the blood-pressure-lowering effects of beta blockers. 2. Concurrent use of beta blockers and calcium channel blockers (diltiazem, nifedipine, verapamil) or disopyramide can lead to heart failure or very low blood pressure. However, there may be times when your doctor may decide that multiple medications are necessary. 3. Cimetidine can increase the blood concentrations of labetalol, which can result in greater side effects. 4. Side effects may also be increased when beta blockers are taken with clonidine, digoxin, epinephrine, chlorpromazine, furosemide, hydralazine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, reserpine, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of a beta blocker and an MAO inhibitor. 5. Beta blockers may antagonize (work against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 6. Beta blockers can also interact with insulin or oral antidiabetic agents, raising or lowering blood sugar levels or masking the symptoms of low blood sugar. 7. Concurrent use of tricyclic antidepressants and labetalol can increase the risk of tremors. 8. Halothane anesthesia and nitroglycerin can increase the blood-pressure-lowering effects of labetalol. TELL YOUR DOCTOR about any drugs you are currently taking, especially those listed above. WARNINGS * Before you start taking this medication, it is important for you to tell your doctor about any unusual or allergic reaction you have had to any medications, especially to labetalol or to any other beta blocker (acebutolol, atenolol, betaxolol, carteolol, esmolol, metoprolol, nadolol, penbutolol, pindolol, propranolol, timolol). * Tell your doctor if you now have or if you have ever had asthma, bronchitis, diabetes mellitus, heart block, heart failure, liver disease, pheochromocytoma, poor circulation in fingers and toes, or a slow heartbeat. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * This drug may affect your body's response to exercise. Ask your doctor how much exercise is appropriate given your state of health. * Do not stop taking this medicine without first checking with your doctor. Some conditions may become worse when the medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may want you to gradually reduce the amount of medicine you take before stopping completely. Have enough medicine on hand to last through vacations, holidays, and weekends. * Before undergoing surgery or any other medical or dental treatment, tell your physician or dentist that you are taking this medicine. Often, this medication will be discontinued 48 hours prior to any major surgery. * Labetalol can cause decreased alertness, dizziness, drowsiness, and light-headedness. Exercise caution while driving a car or using any potentially dangerous machinery. * While taking this medicine, do not use any over-the-counter allergy, asthma, cough, cold, sinus, or diet preparation without first checking with your pharmacist or doctor. The combination of these medicines with a beta blocker can result in high blood pressure. * Be sure to tell your doctor if you are pregnant. Although labetalol appears to be safe in animals, studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of labetalol may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. labetalol pagetitle labetalol 03200.TXT Copyright (C) 1993 Publications International, Ltd. levodopa _________________________ BRAND NAMES (Manufacturers) Dopar (Norwich Eaton) Larodopa (Roche) TYPE OF DRUG Antiparkinsonism agent INGREDIENT levodopa DOSAGE FORMS Tablets (100 mg, 250 mg, and 500 mg) Capsules (100 mg, 250 mg, and 500 mg) STORAGE Levodopa tablets and capsules should be stored at room temperature in tightly closed, light-resistant containers. Levodopa is used to treat the symptoms of Parkinson's disease. It is converted in the body to dopamine, a chemical in the brain that is diminished in patients with Parkinson's disease. TREATMENT In order to avoid stomach irritation, you can take levodopa with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). You may not observe significant benefit from this drug for two to three weeks after starting to take it. If you miss a dose, take the missed dose as soon as possible, unless it is within two hours of the next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, anxiety, bitter taste in the mouth, constipation, diarrhea, dizziness, dry mouth, fatigue, flushing, gas, headache, hiccups, hoarseness, increased hand tremors, increased sexual interest, increased sweating, insomnia, loss of appetite, nausea, offensive body odor, salivation, vision changes, vomiting, weakness, or weight gain. These side effects may disappear as your body adjusts to the medication. Levodopa can cause a darkening of your urine or sweat. This is a harmless effect. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), drink more water, and exercise (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; confusion; convulsions; depression; fainting; false sense of well-being; loss of coordination; loss of hair; nightmares; painful erection; palpitations; rapid weight gain (three to five pounds within a week); skin rash; visual disturbances; uncontrolled movements; or unusual weakness. INTERACTIONS Levodopa interacts with several other types of medications: 1. The dosage of antihypertensive drugs may require adjustment when levodopa is started. 2. The effectiveness of levodopa may be decreased by benzodiazepine tranquilizers, phenothiazine tranquilizers, haloperidol, thiothixene, phenytoin, papaverine, and reserpine. 3. Methyldopa can increase or decrease the side effects of therapy with levodopa. 4. Use of levodopa and a monoamine oxidase (MAO) inhibitor within 14 days of each other can lead to severe side effects. 5. Levodopa can increase the side effects of tricyclic antidepressants, ephedrine, and amphetamines. 6. Antacids may alter the absorption of levodopa from the gastrointestinal tract. 7. Pyridoxine (vitamin B) can decrease the effectiveness of levodopa. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to levodopa. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had asthma, diabetes mellitus, difficulty in urinating, epilepsy, glaucoma, heart disease, hormone disorders, kidney disease, liver disease, lung disease, melanoma (a type of skin cancer), mental disorders, or peptic ulcers. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type symptoms (difficulty in breathing, faintness, or rash) in certain susceptible individuals. * If levodopa makes you dizzy or blurs your vision, avoid activities that require alertness, such as driving a car or operating potentially dangerous machinery. * Notify your doctor if you start to experience any uncontrolled movements of the limbs or face while taking this medication. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Levodopa can cause erroneous readings of urine glucose and ketone tests. Diabetic patients should not change their medication dosage unless they first check with their doctor. * Pyridoxine (vitamin B) can decrease the effectiveness of levodopa. Persons taking levodopa should avoid taking this vitamin and should avoid foods rich in pyridoxine (including beans, bacon, avocados, liver, dry skim milk, oatmeal, sweet potatoes, peas, and tuna). * Be sure to tell your doctor if you are pregnant. Although levodopa appears to be safe in humans, birth defects have been reported in the offspring of animals that were administered large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Levodopa passes into breast milk and can cause side effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. levodopa pagetitle levodopa 03201.TXT Copyright (C) 1993 Publications International, Ltd. levothyroxine _________________________ BRAND NAMES (Manufacturers) Levothroid (R-P Roerer) levothyroxine sodium (various manufacturers) Levoxine (Daniels) Synthroid (Boots) TYPE OF DRUG Thyroid hormone INGREDIENT levothyroxine DOSAGE FORM Tablets (0.025 mg, 0.05 mg, 0.075 mg, 0.088 mg, 0.1 mg, 0.112 mg, 0.125 mg, 0.15 mg, 0.175 mg, 0.2 mg, and 0.3 mg) STORAGE Levothyroxine tablets should be stored at room temperature in a tightly closed, light-resistant container. Levothyroxine is prescribed to replace natural thyroid hormones that are absent because of a disorder of the thyroid gland. It is also used to help decrease the size of enlarged thyroid glands and to treat thyroid cancer. This product is prepared synthetically (artificially) but is exactly like the natural thyroid hormone that is produced by the human body. TREATMENT Levothyroxine tablets should be taken on an empty stomach with a full glass of water. If the drug upsets your stomach, ask your doctor if you can take it with food or milk. In order to get used to taking this drug, try to take it at the same time each day. Try not to miss any doses. If you do miss a dose of this drug, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss more than one or two doses, contact your doctor. SIDE EFFECTS Minor. Constipation; dry, puffy skin; fatigue; headache; listlessness; or weight gain. These effects are symptoms of an underactive thyroid. They should disappear after your body adjusts to the medication. It could take several weeks for the medication to take effect. Consult your doctor if these symptoms persist. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. Most of the major side effects associated with this drug are the result of too large a dose. The dosage of this medication may need to be adjusted if you experience any of the following side effects: chest pain, diarrhea, fever, heat intolerance, insomnia, irritability, leg cramps, menstrual irregularities, muscle aches, nervousness, palpitations, shortness of breath, sweating, trembling, or weight loss. CHECK WITH YOUR DOCTOR. INTERACTIONS Levothyroxine interacts with several other types of drugs: 1. Dosing requirements for digoxin, insulin, or oral antidiabetic agents may change when levothyroxine is used. 2. The effects of oral anticoagulants (blood thinners, such as warfarin) may be increased by levothyroxine, which could lead to bleeding complications. 3. Cholestyramine and colestipol prevent the body's absorption of levothyroxine. At least four hours should separate doses of levothyroxine and one of these drugs. 4. Oral contraceptives (birth control pills) and estrogen-containing drugs may change dosage requirements. 5. Phenobarbital may decrease the effects of levothyroxine; but tricyclic antidepressants and over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, and diet medications may increase its side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to thyroid hormone, levothyroxine, or liothyronine or to any other substances such as foods, preservatives, or dyes. * Tell your doctor if you now have or if you have ever had angina pectoris, diabetes mellitus, heart disease, high blood pressure, kidney disease, or an underactive adrenal or pituitary gland. * If you have an underactive thyroid gland, you may need to take this medication for life. You should not stop taking it unless you first check with your doctor. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking levothyroxine. * Over-the-counter allergy, asthma, cough, cold, sinus, and diet medications can increase the side effects of levothyroxine. Therefore, check with your doctor or pharmacist before taking ANY of these products. * Although many thyroid products are on the market, they are not all bioequivalent; that is, they may not all be absorbed into the bloodstream at the same rate or have the same overall activity. DON'T CHANGE BRANDS of this drug without first consulting your doctor or pharmacist to make sure you are receiving an equivalent product. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (fainting, rash, difficulty in breathing) in certain susceptible individuals. * Tell your doctor if you are pregnant. Levothyroxine does not readily cross the placenta, and the drug appears to be safe during pregnancy. However, your dosing of levothyroxine may change during pregnancy. Also, tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Synthroid 0.025 mg,Synthroid 0.05 mg,Synthroid 0.1 mg,Synthroid 0.15 mg,Synthroid 0.2 mg,Synthroid 0.3 mg 0320101.scf,0320102.scf,0320103.scf,0320104.scf,0320105.scf,0320106.scfi levothyroxine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials lose9 pagetitle levothyroxine 03202.TXT Copyright (C) 1993 Publications International, Ltd. lindane _________________________ BRAND NAMES (Manufacturers) G-well (Goldline) Kwell (Reed & Carnrick) lindane (various manufacturers) Scabene (Stiefel) TYPE OF DRUG Pediculicide and scabicide INGREDIENT lindane (formerly known as gamma benzene hexachloride) DOSAGE FORMS Cream (1%) Lotion (1%) Shampoo (1%) STORAGE Lindane should be stored at room temperature in tightly closed containers. This medication should never be frozen. This medication is used to eliminate crab lice, head lice, and scabies. Lindane is a central nervous system (brain and spinal cord) stimulant, which causes convulsions and death of the parasites (at the dosage generally used, it is not harmful to humans). Lindane cream and lotion are used to treat only scabies infestations. Lindane shampoo is used to treat only lice infestations. TREATMENT Complete directions for the use of these products are supplied by the manufacturers. Be sure to ask your doctor or pharmacist for these directions, and follow the instructions carefully. If you are applying this medication to another person, you should wear plastic or rubber gloves on your hands in order to avoid absorption of this drug through the skin. The lotion form of this medication should be shaken well before each dose is measured. The contents of the lotion tend to settle on the bottom of the bottle, so the bottle must be shaken in order to distribute the medication evenly and equalize the doses. Be sure to rinse off this product according to the directions. If it is not rinsed off COMPLETELY, too much of the medication will be absorbed. SIDE EFFECTS Minor. Rash or skin irritation upon application. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. The serious side effects associated with this medication (clumsiness, convulsions, irritability, muscle cramps, palpitations, restlessness, unsteadiness, unusual nervousness, or vomiting) are due to absorption of this drug through the skin. This should not happen if the product is used according to directions. CONTACT YOUR DOCTOR if you experience any of these symptoms. INTERACTIONS Do not use other skin preparations (lotions, ointments, or oils). They increase the absorption of this product through the skin, which can lead to serious side effects. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to lindane. * This product should NOT be used on the face. If you do get lindane in your eyes, it should be flushed out immediately. In order to decrease the amount of drug absorbed through the skin, avoid using this product on any open wounds, cuts, or sores. * Lice are easily transmitted from one person to another. All family members (and sexual partners) should be carefully examined. Personal items (clothing, towels) should be machine-washed using the "hot" temperature cycle and then dried. No unusual cleaning measures are required. Combs, brushes, and other washable items may be soaked in boiling water for one hour. * After using the shampoo for head lice, you must remove the dead nits (eggs). Use a fine-tooth comb to remove them from your hair, or mix a solution of equal parts of water and vinegar and apply it to the affected area. Rub the solution in well. After several minutes, shampoo with your regular shampoo and then brush your hair. This process should remove all nits. * Be sure to tell your doctor if you are pregnant. Lindane is absorbed through the skin and may cause central nervous system side effects in the mother and in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Lindane probably passes into breast milk and may cause central nervous system side effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. lindane pagetitle lindane 03203.TXT Copyright (C) 1993 Publications International, Ltd. liothyronine _________________________ BRAND NAMES (Manufacturers) Cyronine (Major) Cytomel (Smith Kline & French) liothyronine (various manufacturers) TYPE OF DRUG Thyroid hormone INGREDIENT liothyronine DOSAGE FORM Tablets (5 mcg, 25 mcg, and 50 mcg) STORAGE Liothyronine should be stored at room temperature in a tightly closed container. Liothyronine is a synthetic form of natural thyroid hormone. It has all of the pharmacologic activities of the natural substance. This medication is used to replace thyroid hormone in patients who cannot produce enough of their own. TREATMENT Liothyronine can be taken either on an empty stomach or with food or a full glass of water or milk, as directed by your doctor. In order for you to become accustomed to taking this medication, try to take it at the same time each day. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal cramps, diarrhea, headache, insomnia, or nausea. These side effects may disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. Most of the serious side effects of this medication are the result of too high a dose. These include chest pain, fever, intolerance to heat, menstrual irregularities, nervousness, palpitations, skin rash, sweating, tremors, and weight loss. CONTACT YOUR DOCTOR if you experience any of these symptoms. INTERACTIONS Liothyronine interacts with several other types of medications: 1. It can increase the effects of oral anticoagulants (blood thinners, such as warfarin), which can lead to bleeding complications. 2. The dosage of digoxin, insulin, or oral antidiabetic medicines may require adjustment when liothyronine is started. 3. Cholestyramine decreases the absorption of liothyronine from the gastrointestinal tract. Therefore, at least four to five hours should separate doses of these medications. 4. Liothyronine may increase the side effects of tricyclic antidepressants. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to liothyronine, thyroid hormone, or levothyroxine. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had an underactive adrenal gland, diabetes mellitus, heart or blood vessel disease, or an underactive pituitary gland. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because liothyronine is replacing natural thyroid hormone, you may need to take this medication for the rest of your life. * Do not stop taking this medication unless you first check with your doctor. Stopping this medication may result in worsening of your condition. * Do not take any over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, or diet medications without first checking with your doctor or pharmacist. Some of these products can increase the side effects of liothyronine. * The elderly may be at increased risk of experiencing side effects of this medication. * Be sure to tell your doctor if you are pregnant. Your dosage of liothyronine may need to be adjusted during pregnancy. Also, tell your doctor if you are breastfeeding an infant. Small amounts of liothyronine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Cytomel 25 mcg,Cytomel 50 mcg 0320301.scf,0320302.scf liothyronineW logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle liothyronine 03204.TXT Copyright (C) 1993 Publications International, Ltd. lisinopril _________________________ BRAND NAMES (Manufacturers) Prinivil (Merck Sharp & Dohme) Zestril (Stuart) TYPE OF DRUG Antihypertensive INGREDIENT lisinopril DOSAGE FORM Tablets (5 mg, 10 mg, 20 mg, and 40 mg) STORAGE Store this medication away from heat, direct light, or moisture. Lisinopril is currently approved for the treatment of hypertension (high blood pressure). It is also being investigated for the treatment of heart failure. Lisinopril is a vasodilator (it widens the blood vessels) that acts by blocking the production of chemicals that may be responsible for constricting blood vessels. TREATMENT The duration of action of lisinopril permits once-a-day dosing. Lisinopril can be taken either on an empty stomach or with food if it causes stomach irritation. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. In some patients it may require two to four weeks of therapy to achieve maximum therapeutic benefit. Lisinopril does not cure high blood pressure, but it will help to control the condition as long as you take it. SIDE EFFECTS Minor. Dizziness; headache; fatigue; diarrhea; nasal congestion; or dry, hacking cough. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your physician about any effects that are persistent or bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain; chills; difficult or painful urination; fever; itching; mouth sores; palpitations; prolonged vomiting or diarrhea; rash; shortness of breath; sore throat; swelling of the face, hands, or feet; tingling in the fingers or toes; unusual bleeding or bruising; or yellowing of the eyes or skin. INTERACTIONS 1. Lisinopril tends to cause retention of potassium in the body. Many salt substitutes contain potassium chloride and should only be used with the advice of your physician. Caution should also be observed with low-salt foods, some of which may contain significant amounts of potassium. Other medications such as the diuretics (water pills), triamterene, spironolactone, or amiloride may cause potassium retention. Use of these medications together with lisinopril may lead to excessive levels of potassium in the blood. 2. The anti-inflammatory drug indomethacin may reduce the effectiveness of lisinopril. 3. Excessive hypotension (low blood pressure) may occur when starting lisinopril in patients on diuretics. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to lisinopril, captopril, or enalapril. * Tell your doctor if you have any other medical problems, such as diabetes, heart disease, kidney disease, liver disease, or systemic lupus erythematosus. * Tell your doctor if you experience light-headedness, which may be a symptom of excessive hypotension (low blood pressure). This is especially likely to occur during the first few days of therapy. If fainting occurs, stop the drug and consult with your physician. * Excessive perspiration or dehydration may cause an excessive fall in blood pressure. * Report any evidence of infections (such as sore throat or fever) to your physician. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medication for weight control, or for allergy, asthma, sinus, cough, or cold problems unless you first check with your doctor. * Because lisinopril is eliminated from the body through the kidneys, be sure to report to your physician any symptoms of kidney disease, such as difficulty in urinating. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant or plan to become pregnant. Studies in animals, in which administered doses far exceeded those used in humans, have shown a decrease in the number of successful pregnancies. Also tell your doctor if you are breast-feeding an infant. It is not known whether lisinopril passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. lisinoprilce o pagetitle lisinopril 03205.TXT Copyright (C) 1993 Publications International, Ltd. lithium _________________________ BRAND NAMES (Manufacturers) Cibalith-S (Ciba) Eskalith (Smith Kline & French) Eskalith CR (Smith Kline & French) Lithane (Miles Pharmaceutical) lithium carbonate (various manufacturers) lithium citrate (various manufacturers) Lithobid (Ciba) Lithonate (Reid-Rowell) Lithotabs (Reid-Rowell) TYPE OF DRUG Antimanic (mood stabilizer) INGREDIENT lithium DOSAGE FORMS Tablets (300 mg) Extended-release tablets (300 mg and 450 mg) Capsules (150 mg, 300 mg, and 600 mg) Syrup (300 mg per 5-ml spoonful, with 0.3% alcohol) STORAGE Lithium tablets, capsules, and syrup should be stored at room temperature away from heat and direct sunlight. The syrup should not be frozen. Do not store the medication in the bathroom cabinet, because moisture may cause the breakdown of lithium. Do not keep these medications beyond the expiration date. Lithium is a medication used to treat manic-depressive illness by controlling the manic (excited) phase of the illness and by reducing the frequency and severity of depression. Manic-depressive patients often experience unstable emotions ranging from excitement to hostility to depression. The mechanism of the mood-stabilizing effect of lithium is unknown, but it appears to work on the central nervous system to control emotions. TREATMENT Lithium should be taken exactly as directed by your doctor. The effectiveness of this medication depends upon the amount of lithium in your bloodstream. Therefore, the medication should be taken every day at regularly spaced intervals in order to keep a constant amount of lithium in your bloodstream. The syrup form must be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take it as soon as possible. However, if it is within two hours (six hours for extended-release tablets) of your next scheduled dose, skip the missed dose and return to your regular schedule. Do not take more than one dose at a time. If you are taking the long-acting or slow-release form of lithium, swallow the tablet or capsule whole. Do not break, crush, or chew before swallowing. An improvement in your condition may not be observed for up to several weeks after you start to take this drug. SIDE EFFECTS Minor. Acne, bloating, diarrhea, drowsiness, increased frequency of urination, increased thirst, nausea, trembling of the hands, weight gain, or weakness or tiredness. These side effects should disappear as your body adjusts to this medication. Major. Blurred vision, clumsiness, confusion, convulsions, difficulty in breathing, dizziness, fainting, palpitations, severe trembling, and slurred speech are possible effects of too much drug in the bloodstream. Dry, rough skin; hair loss; hoarseness; swelling of the feet or lower legs; swelling of the neck; unusual sensitivity to the cold; unusual tiredness; or unusual weight gain may be the result of low thyroid function caused by the medication. CHECK WITH YOUR DOCTOR IMMEDIATELY if any of these side effects appear. INTERACTIONS Lithium interacts with a number of other types of medications: 1. Aminophylline, caffeine, verapamil, acetazolamide, sodium bicarbonate, dyphylline, oxtriphylline, and theophylline can increase the elimination of lithium from the body, thus decreasing its effectiveness. 2. Diuretics (water pills), especially hydrochlorothiazide, chlorothiazide, chlorthalidone, triamterene and hydrochlorothiazide combination, and furosemide may cause lithium toxicity by delaying the body's lithium elimination. 3. Captopril, chlorpromazine and other phenothiazine tranquilizers, ibuprofen, indomethacin, naproxen, and piroxicam can also slow lithium elimination. 4. Lithium can increase the side effects of haloperidol and other medications for mental illness. 5. Phenytoin, methyldopa, carbamazepine, and tetracycline can increase the side effects of lithium. 6. Drinking large amounts of caffeine-containing coffees, teas, or colas may reduce the effectiveness of lithium by increasing its elimination from the body through the urine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to lithium. * Tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, heart disease, kidney disease, Parkinson's disease, or thyroid disease. * Elderly patients may be more sensitive to lithium's side effects. * In order to maintain a constant level of lithium in your bloodstream, it is important to drink two to three quarts of water or other fluids each day and not to change the amount of salt in your diet, unless your doctor specifically directs you to do so. * The loss of large amounts of body fluid (from prolonged vomiting or diarrhea or from heavy sweating due to hot weather, fever, exercise, saunas, or hot baths) can result in increased lithium levels in the blood, which can lead to an increase in side effects. * The toxic dose of lithium is very close to the therapeutic dose, so it is extremely important to follow your correct dosing schedule. Diarrhea, drowsiness, lack of coordination, muscular weakness, and vomiting may be signs of toxicity. If these symptoms occur for any length of time or begin shortly after taking a dose, inform your doctor. * Lithium is not recommended for use during pregnancy, especially during the first three months, because of possible effects on the thyroid and heart of the developing fetus. Also, tell your doctor if you are breast-feeding. Lithium also passes into breast milk and may cause side effects in the nursing infant. * If this drug makes you drowsy or dizzy, do not take part in any activities that require alertness, such as driving a car or operating potentially dangerous machinery. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Eskalith,Lithobid 0320501.scf,0320502.scf lithium logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle lithium 03206.TXT Copyright (C) 1993 Publications International, Ltd. lomustine _________________________ BRAND NAME (Manufacturer) CeeNU (Bristol) TYPE OF DRUG Antineoplastic (anticancer drug) INGREDIENT lomustine DOSAGE FORM Capsules (10 mg, 40 mg, and 100 mg) STORAGE Lomustine should be stored at room temperature in a tightly closed container. This medication belongs to a group of drugs known as nitrosourea alkylating agents. It is used to treat a variety of cancers. Lomustine is thought to work by binding to the rapidly growing cancer cells, preventing their multiplication and growth. TREATMENT To help prevent nausea, you should take lomustine on an empty stomach (unless your doctor directs otherwise). The patient is usually required to take this medication as a single dose once a week. The total weekly dose consists of a number of capsules of different strengths and colors, which are all taken at the same time. The timing of each weekly dose is very important; be sure you completely understand your doctor's instructions on how and when this medication should be taken. SIDE EFFECTS Minor. Nausea and vomiting may occur three to six hours after taking a dose of lomustine; these symptoms usually last less than 24 hours. The use of lomustine may also cause hair loss, which is reversible when the medication is stopped. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chills, confusion, decreased coordination, difficult or painful urination, disorientation, fever, itching, loss of appetite, lethargy, mouth sores, sore throat, unusual bleeding or bruising, weakness, or yellowing of the eyes or skin. These side effects may even appear several weeks after the last dose is taken. INTERACTIONS Lomustine should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to lomustine, carmustine, or streptozocin. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders, chronic or recurrent infections, or kidney disease. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * You should not receive any immunizations or vaccinations while taking this medication. Lomustine blocks the effectiveness of vaccines, which could result in an overwhelming infection if a live-virus vaccine is administered. Be sure to tell your doctor you are taking lomostine before you are given any immunizations or vaccinations. * Lomustine can lower your platelet count, which can decrease your body's ability to form blood clots. You should, therefore, be especially careful while brushing your teeth, flossing, or using toothpicks, razors, or fingernail scissors. Try to avoid falls and other injuries. Your doctor may also order periodic laboratory tests to monitor your blood. * Lomustine can decrease fertility in both men and women. * Tell your doctor if you are pregnant. Lomustine has been reported to cause birth defects in both animals and humans whose mothers received the drug during pregnancy. The risks should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. Small amounts of lomustine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. lomustine pagetitle lomustine 03207.TXT Copyright (C) 1993 Publications International, Ltd. loperamide _________________________ BRAND NAME (Manufacturer) Imodium (Janssen) TYPE OF DRUG Antidiarrheal INGREDIENT loperamide DOSAGE FORMS Capsules (2 mg) Oral liquid (1 mg per 5-ml spoonful) [*] * Available over-the-counter (without a prescription) STORAGE Loperamide capsules and liquid should be stored at room temperature in tightly closed containers. This medication should never be frozen. Loperamide is used to treat acute and chronic diarrhea and to reduce the volume of discharge in patients who have ileostomies. It acts by slowing the movement of the gastrointestinal tract and decreasing the passage of water and other substances into the bowel. TREATMENT In order to avoid stomach upset, you can take loperamide with food or with a full glass of water or milk. If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, fatigue, loss of appetite, nausea, or vomiting. These effects should disappear as your body adjusts to the drug. To relieve constipation, exercise and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal bloating or pain, fever, rash, or sore throat. INTERACTIONS Loperamide should not interact with any other drugs. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications. * Tell your doctor if you now have or if you have ever had colitis, diarrhea caused by infectious organisms, drug-induced diarrhea, liver disease, dehydration, or conditions in which constipation must be avoided (such as hemorrhoids, diverticulitis, heart or blood vessel disorders, or blood clotting disorders). * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Check with your doctor if your diarrhea does not subside within three days. Unless your doctor prescribes otherwise, do not take this drug for more than ten days at a time. * While taking this medication, drink lots of fluids to replace those lost because of diarrhea. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. It is not known whether loperamide passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Imodium 0320701.scf loperamide logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle loperamide 03208.TXT Copyright (C) 1993 Publications International, Ltd. lorazepam _________________________ BRAND NAMES (Manufacturers) Ativan (Wyeth) lorazepam (various manufacturers) TYPE OF DRUG Benzodiazepine sedative/hypnotic INGREDIENT lorazepam DOSAGE FORM Tablets (0.5 mg, 1 mg, and 2 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Lorazepam is prescribed to treat symptoms of anxiety and anxiety associated with depression. It is not clear exactly how this medicine works, but it may relieve anxiety by acting as a depressant of the central nervous system (brain and spinal cord). This medication is currently used by many people to relieve nervousness. It is effective for this purpose for short periods, but it is important to try to remove the cause of the anxiety as well. TREATMENT Lorazepam should be taken exactly as your doctor directs. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this medication with a dose of antacids, since they may slow its absorption from the gastrointestinal tract. If you are taking this medication regularly and you miss a dose, take the missed dose immediately if you remember within an hour. If more than an hour has passed, skip the dose you missed and wait for the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Bitter taste in the mouth, constipation, diarrhea, dizziness, drowsiness (after a night's sleep), dry mouth, fatigue, flushing, headache, heartburn, excessive salivation, loss of appetite, nausea, nervousness, sweating, or vomiting. As your body adjusts to the medication, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, depression, difficulty in urinating, fainting, falling, fever, joint pain, hallucinations, memory problems, mouth sores, nightmares, palpitations, rash, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS Lorazepam interacts with several other types of medications: 1. To prevent oversedation, this drug should not be taken with alcohol, other sedative drugs, or central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, medicines for seizures, and phenothiazine tranquilizers) or with antidepressants. 2. This medication may decrease the effectiveness of carbamazepine, levodopa, and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 3. Disulfiram, cimetidine, and isoniazid can increase the blood levels of lorazepam, which can lead to toxic effects. 4. Concurrent use of rifampin may decrease the effectiveness of lorazepam. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to lorazepam or other benzodiazepine tranquilizers (such as alprazolam, chlordiazepoxide, clorazepate, diazepam, flurazepam, halazepam, midazolam, oxazepam, prazepam, temazepam, and triazolam). * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, epilepsy, lung disease, myasthenia gravis, porphyria, mental depression, or mental illness. * This medicine can cause drowsiness. Avoid tasks that require alertness, such as driving a car or using potentially dangerous machinery. * This medication has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage without first consulting your doctor. It is also important not to stop this drug suddenly if you have been taking it in large amounts or if you have used it for several weeks. Your doctor may want to reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects can develop. * Be sure to tell your doctor if you are pregnant. This medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may cause the fetus to become dependent on it, resulting in withdrawal side effects in the newborn. Also, use of this drug during the last weeks of pregnancy may cause drowsiness, slowed heartbeat, and breathing difficulties in the newborn. Tell your doctor if you are breast-feeding. This drug can pass into the breast milk and cause drowsiness, slowed heartbeat, and breathing difficulties in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Ativan 0.5 mg,Ativan 1 mg,Ativan 2 mg 0320801.scf,0320802.scf,0320803.scf lorazepam logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle lorazepam 03209.TXT Copyright (C) 1993 Publications International, Ltd. lovastatin _________________________ BRAND NAME (Manufacturer) Mevacor (Merck Sharp & Dohme) TYPE OF DRUG Antihyperlipidemic (lipid-lowering drug) INGREDIENT lovastatin DOSAGE FORM Tablets (20 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Exposure to heat or moisture may cause this drug to break down. Lovastatin is used to treat hyperlipidemia (high blood fat levels). It is prescribed in conjunction with nondrug therapies, such as diet modification and regular exercise, in an attempt to regulate lipid and cholesterol levels. Lovastatin chemically interferes with an enzyme in the body that is responsible for synthesizing cholesterol. This decreases the LDL (low-density lipoprotein) type of cholesterol, which has been associated with coronary heart disease and atherosclerosis. TREATMENT This medication should be taken exactly as prescribed by your doctor. If you are to take the drug once a day, it is best to take the drug in the evening. Lovastatin can be taken with meals or a full glass of water if stomach upset occurs. While using this medication, try to develop a set schedule for taking it. If you miss a dose and remember within a few hours, take the missed dose and resume your regular schedule. If many hours have passed, skip the dose you missed and then take your next dose as scheduled. Do not double the dose. SIDE EFFECTS Minor. Abdominal pain or cramps, constipation, diarrhea, gas, nausea, or stomach pain. These effects may be relieved by taking lovastatin with a meal, adding fiber to your diet, or using mild stool softeners. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision (or any other visual changes or difficulties) or muscle pain or tenderness, especially with malaise or fever. INTERACTIONS There do not appear to be any significant drug interactions with this medication. However, you should make sure your doctor knows all the medications you are taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications. * Tell your doctor if you have ever had liver disease, heart disease, stroke, or disorders of the digestive tract. * In preliminary studies with lovastatin, some patients were found to develop eye-related problems during treatment. Although these findings are inconclusive, and it has not yet been determined whether lovastatin is involved in such occurrences, it is advisable to have regular checkups with your ophthalmologist and inform him/her of your use of this drug. * This drug should not be taken if you are pregnant or breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Mevacor 0320901.scf lovastatin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle lovastatin 03210.TXT Copyright (C) 1993 Publications International, Ltd. loxapine _________________________ BRAND NAMES (Manufacturers) Loxitane (Lederle) Loxitane C (Lederle) TYPE OF DRUG Antipsychotic INGREDIENT loxapine DOSAGE FORMS Capsules (5 mg, 10 mg, 25 mg, and 50 mg) Oral concentrate (25 mg per ml) STORAGE Loxapine capsules and oral concentrate should be stored at room temperature (never frozen) in tightly closed containers. If the oral concentrate turns slightly yellowish, the drug is still effective and can be used. However, if the oral concentrate changes color markedly or has particles floating in it, it shouldn't be used; rather, it should instead be discarded down the sink. Loxapine is prescribed to treat the symptoms of mental illness, such as the emotional symptoms of psychosis. This medication is thought to relieve the symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. TREATMENT To avoid stomach irritation, you can take the tablet form of loxapine with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise.) The oral concentrate form of this medication should be measured carefully with the dropper provided and diluted in eight ounces (a full cup) or more of orange or grapefruit juice immediately prior to administration. If you miss a dose of this medication, take the missed dose as soon as possible and return to your regular dosing schedule. If it is almost time for the next dose, however, skip the one you missed and then return to your regular schedule. Do not double the dose unless you are directed to do so by your doctor. Antacids and antidiarrheal medicines can decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least one hour should separate doses of one of these medicines and loxapine. The full effects of this medication for the control of emotional or mental symptoms may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drooling, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, vomiting, or weight gain. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; tremors; uncoordinated movements; unusual bleeding or bruising; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Loxapine can interact with a number of other types of medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications) or with tricyclic antidepressants. 2. This medication can cause a decrease in the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, and tricyclic antidepressants may be increased when combined with this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to loxapine or to any phenothiazine tranquilizer. * Tell your doctor if you have a history of alcoholism or if you now have or ever had heart or circulatory disease, epilepsy, glaucoma, liver disease, Parkinson's disease, enlarged prostate gland, or blockage of the urinary tract. * Avoid drinking alcoholic beverages while taking this medication, in order to prevent oversedation. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking loxapine. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * This medication can decrease sweating and heat release from the body. Therefore, avoid getting overheated by strenuous exercise in hot weather, and avoid taking hot baths, showers, and saunas. * This medication has the potential to cause a permanent movement disorder called tardive dyskinesia. Therefore, be sure to report any uncontrolled movements of the body to your doctor. * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or worsening of your condition. Your doctor may want to reduce the dosage gradually. * If you are planning to have a myelogram, or any other procedure in which dye is injected into the area surrounding the spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral concentrate form of this medication on your skin or clothing; it can cause redness and irritation of the skin. * While you are taking this prescription medication, do not take any over-the-counter (nonprescription) medication or preparation for weight control or for cough, cold, asthma, allergy, or sinus problems unless you first check with your doctor. The combination of these two types of medications can cause high blood pressure. * Elderly patients may be at increased risk of experiencing side effects of this medication. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication will cross the placenta. Although there are reports of safe use of this type of drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unwanted effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Loxitane 0321001.scf loxapines logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials "pagetitle loxapine 03211.TXT Copyright (C) 1993 Publications International, Ltd. maprotiline _________________________ BRAND NAME (Manufacturer) Ludiomil (Ciba) TYPE OF DRUG Tetracyclic antidepressant INGREDIENT maprotiline DOSAGE FORM Tablets (25 mg, 50 mg, and 75 mg) STORAGE Maprotiline tablets should be stored at room temperature in a tightly closed container. Maprotiline is used to relieve the symptoms of mental depression. This medication is a tetracyclic antidepressant. It is related to a group of drugs referred to as the tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals necessary for nerve transmission in the brain. TREATMENT This medication should be taken exactly as your doctor prescribes. It can be taken with water or food to lessen the chance of stomach irritation, unless your doctor tells you to do otherwise. If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular dosing schedule. However, if the dose you missed was a once-a-day bedtime dose, do not take that dose in the morning; check with your doctor instead. If the dose is taken in the morning, it may cause some unwanted side effects. Never double the dose. The effects of therapy with this medication may not become apparent for two or three weeks. SIDE EFFECTS Minor. Anxiety, blurred vision, confusion, constipation, diarrhea, dizziness, drowsiness, dry mouth, fatigue, heartburn, insomnia, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. Mouth dryness can be relieved by chewing sugarless gum or by sucking on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, chest pain, convulsions, cramps, difficulty in urinating, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, headaches, impotence, mood changes, mouth sores, nervousness, nightmares, numbness in the fingers or toes, palpitations, ringing in the ears, seizures, skin rash, sleep disorders, sore throat, tremors, uncoordinated movements or balance problems, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Maprotiline interacts with other types of medications: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with other antidepressants. 2. Maprotiline may decrease the effectiveness of antiseizure medications and may block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Oral contraceptives (birth control pills) and estrogen-containing drugs can increase the side effects and reduce the effectiveness of tricyclic antidepressants and maprotiline. 4. Tetracyclic antidepressants may increase the side effects of thyroid medication and over-the-counter (nonprescription) allergy, cough, cold, asthma, sinus, and diet medications. 5. The concurrent use of tetracyclic antidepressants and monoamine oxidase (MAO) inhibitors should be avoided, because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. Before starting to take maprotiline, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to any medications, especially to maprotiline or any of the tricyclic antidepressants (such as amitriptyline, imipramine, doxepin, trimipramine, amoxapine, protriptyline, desipramine, and nortriptyline). * Tell your doctor if you have a history of alcoholism or if you have ever had asthma, high blood pressure, liver or kidney disease, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or other medical or dental treatment, tell your doctor or dentist about this drug. * Do not stop taking this drug suddenly. Abruptly stopping it can cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The effects of this medication may last as long as seven days after you have stopped taking it, so continue to observe all precautions during that period. Be sure to tell your doctor if the effects continue past that time. * Elderly patients may be at increased risk of experiencing side effects of this medication. * Be sure to tell your doctor if you are pregnant. Problems in humans have not been reported; however, studies in animals have shown that this type of medication can cause side effects in the fetus if given to the mother in large doses during pregnancy. Also, be sure to tell your doctor if you are breast-feeding an infant. It is possible small amounts of this drug will pass into breast milk and cause unwanted side effects, such as irritability or sleeping problems, in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Ludiomil 25 mg,Ludiomil 50 mg 0321101.scf,0321102.scf- maprotiline logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle maprotiline 03212.TXT Copyright (C) 1993 Publications International, Ltd. mazindol _________________________ BRAND NAMES (Manufacturers) Mazanor (Wyeth) Sanorex (Sandoz) TYPE OF DRUG Anorectic (appetite suppressant) INGREDIENT mazindol DOSAGE FORM Tablets (1 mg and 2 mg) STORAGE Mazindol should be stored at room temperature in a tightly closed container. Mazindol is used as an appetite suppressant during the first few weeks of dieting, to help establish new eating habits. This medication is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness lasts only for short periods (three to 12 weeks), however. TREATMENT Mazindol can be taken with a full glass of water one hour before meals (unless your doctor directs you to do otherwise). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. In order to avoid difficulty in falling asleep, the last dose of this medication each day should be taken four to six hours before bedtime (for the 1 mg tablet) or ten to 14 hours before bedtime (for the 2-mg tablet). SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, dry mouth, false sense of well-being, fatigue, insomnia, irritability, nausea, nervousness, restlessness, stomach pain, sweating, tremors, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the drug. Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. In order to prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, changes in sexual desire, chest pain, difficulty in urinating, enlarged breasts (in both sexes), fever, hair loss, headaches, impotence, increased blood pressure, menstrual irregularities, mental depression, mood changes, mouth sores, muscle pains, palpitations, rash, sore throat, or unusual bleeding or bruising. INTERACTIONS Mazindol interacts with several other types of medications: 1. Use of this medication within 14 days of a monoamine oxidase (MAO) inhibitor (such as isocarboxazid, pargyline, phenelzine, and tranylcypromine) can result in high blood pressure and other side effects. 2. Barbiturate medications and phenothiazine tranquilizers (especially chlorpromazine) can antagonize (act against) the appetite-suppressant activity of this medication. 3. Mazindol can decrease the blood-pressure-lowering effects of antihypertensive medications (especially guanethidine) and may alter insulin and oral antidiabetic medication dosage requirements in diabetic patients. 4. The side effects of other central nervous system stimulants, such as caffeine, over-the-counter (nonprescription) appetite suppressants or sinus, cough, cold, asthma, and allergy preparations, may be increased by the concurrent use of this medication. Before starting to take mazindol, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to mazindol or other appetite suppressants (such as benzphetamine, phendimetrazine, diethylpropion, fenfluramine, phenmetrazine, and phentermine) or to epinephrine, norepinephrine, ephedrine, amphetamines, dextroamphetamine, phenylephrine, phenylpropanolamine, pseudoephedrine, albuterol, metaproterenol, or terbutaline. * Tell your doctor if you have a history of drug abuse or if you have ever had angina, diabetes mellitus, emotional disturbances, glaucoma, heart or cardiovascular disease, high blood pressure, or thyroid disease. * Mazindol can mask the symptoms of extreme fatigue and can cause dizziness or light-headedness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Mazindol is related to amphetamine and may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). Therefore, you should not increase the dosage of this medication or take it for longer than 12 weeks unless you first consult your doctor. It is also important that you not stop taking this medication abruptly. Fatigue, sleep disorders, mental depression, nausea or vomiting, or stomach cramps or pain can occur while your body adjusts to discontinuation of this medication. Your doctor may want to decrease the dosage gradually in order to prevent these side effects. * Mazindol should not be used in children less than 12 years of age. * There is no specific information about the use of appetite suppressants such as this medication in the elderly. * Be sure to tell your doctor if you are pregnant. Although studies in humans have not been conducted, it is known that some of the appetite suppressants cause side effects in the offspring of animals that receive large doses of these drugs during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this medication passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. mazindoltypeU pagetitle mazindol 03213.TXT Copyright (C) 1993 Publications International, Ltd. meclizine _________________________ BRAND NAMES (Manufacturers) Antivert (Roerig) Antivert/25 (Roerig) Antivert/50 (Roerig) Antrizine (Major) Bonine [*] (Pfipharmecs) Dizmiss [*] (Bowman) meclizine hydrochloride (various manufacturers) Ru-Vert-M (Reid-Provident) Wehvert [*] (Hauck) * Available over-the-counter (without a prescription) TYPE OF DRUG Antiemetic INGREDIENT meclizine DOSAGE FORMS Tablets (12.5 mg, 25 mg, and 50 mg) Chewable tablets (25 mg) STORAGE Store at room temperature in a tightly closed container. Meclizine is used to provide symptomatic relief of dizziness and to prevent or relieve dizziness, nausea, and vomiting due to motion sickness. It is thought to relieve dizziness and vomiting by altering nerve transmission in the balance and vomiting centers in the brain. TREATMENT To avoid stomach upset, take meclizine with food, milk, or water (unless your doctor directs you to do otherwise). The chewable tablets should be chewed for at least two minutes in order to obtain the full benefit of this drug. If you are taking meclizine to prevent motion sickness, you should take it one hour before traveling. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Confusion; constipation; diarrhea; dizziness; dry mouth, throat, or nose; headache; irritability; loss of appetite; nausea; restlessness; or stomach upset. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, change in menstruation, clumsiness, decreased blood pressure, difficult or painful urination, feeling faint, flushing of the face, hallucinations, palpitations, ringing or buzzing in the ears, rash, seizures, shortness of breath, sleeping disorders, sore throat or fever, tightness in the chest, unusual bleeding or bruising, unusual increase in sweating, or unusual tiredness or weakness. INTERACTIONS 1. Meclizine interacts with several other types of medications: Concurrent use of it with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. If you take meclizine on a regular basis and also take large amounts of aspirin (for example, for arthritis pain relief), tell your doctor. The effects of too much aspirin (ringing in the ears) may be masked by meclizine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about allergic or unusual reactions you have had to any medications, especially to meclizine, cyclizine, or buclizine. * Tell your doctor if you now have or if you have ever had asthma, blood vessel disease, glaucoma, high blood pressure, kidney disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * Meclizine can cause drowsiness or dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Meclizine should be given to children under age 12 years only under the supervision of a doctor. * The elderly may be especially sensitive to side effects such as dry mouth. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of meclizine pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Antivert,Antivert/25 0321301.scf,0321302.scf meclizine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle meclizine 03214.TXT Copyright (C) 1993 Publications International, Ltd. meclofenamate _________________________ BRAND NAMES (Manufacturers) meclofenamate sodium (various manufacturers) Meclomen (Parke-Davis) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT meclofenamate DOSAGE FORMS Tablets (50 mg and 100 mg) Capsules (50 mg and 100 mg) STORAGE This medication should be stored in a tightly closed container at room temperature, away from heat and direct sunlight. Meclofenamate is used as a short-term treatment for the pain and inflammation (pain, swelling, stiffness) of certain types of arthritis, gout, bursitis, and tendinitis. Meclofenamate has been shown to block the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not yet fully understood how meclofenamate works. TREATMENT If this medication upsets your stomach, you can take it with food, milk, or antacids (unless your doctor recommends otherwise). If stomach irritation continues, check with your doctor. It is important to take meclofenamate on schedule and not to miss any doses. If you do miss a dose, take it as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you are taking meclofenamate to relieve arthritis, you must take it regularly, as directed by your doctor. It may take up to three weeks before you feel the full benefits of this medication. This medication does not cure arthritis, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, soreness of the mouth, unusual sweating, or vomiting. As your body adjusts to the drug, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. If any side effects are persistent or particularly bothersome, you should report them to your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; difficult or painful urination; palpitations; a problem with hearing; ringing or buzzing in the ears; severe diarrhea; severe sunburn; shortness of breath; skin rash, hives, or itching; stomach pain; swelling of the feet; tightness in the chest; wheezing or difficulty in breathing; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; or yellowing of the eyes or skin. INTERACTIONS Meclofenamate interacts with several other types of medications: 1. Anticoagulants (blood thinners), such as warfarin, taken at the same time as meclofenamate can lead to an increase in bleeding complications. 2. Concurrent use of aspirin, salicylates, or other anti-inflammatory medications can increase stomach irritation. 3. Probenecid may increase blood levels of meclofenamate, which may increase the risk of side effects. 4. The action of beta blockers may be decreased by this drug. 5. This drug can interact with diuretics (water pills). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to meclofenamate or any of the other chemically related drugs (aspirin, other salicylates, diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, mefenamic acid, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, or tolmetin). * Before taking meclofenamate, it is important to tell your doctor if you now have or if you have ever had bleeding problems, colitis, stomach ulcers or other stomach problems, epilepsy, heart disease, high blood pressure, asthma, kidney disease, liver disease, mental illness, or Parkinson's disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Because this drug can prolong your bleeding time, it is important to tell your doctor or dentist that you are taking this drug before having surgery or any other medical or dental treatment. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. These should, therefore, be avoided (unless your doctor directs you to do otherwise). * The elderly may be at increased risk of experiencing side effects from this drug. * The safety and effectiveness of this drug in children below the age of 14 has not been established. * Be sure to tell your doctor if you are pregnant. Studies have shown that meclofenamate can cause unwanted effects (including slower development of bones and heart damage) in the offspring of animals that received this drug during pregnancy. If taken late in pregnancy, meclofenamate can also prolong labor. Also, tell your doctor if you are breast-feeding an infant. Small amounts of meclofenamate pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. meclofenamate pagetitle meclofenamate 03183.TXT Copyright (C) 1993 Publications International, Ltd. hydrocortisone, benzyl benzoate, bismuth resorcin compound, bismuth subgallate, zinc oxide, and Peruvian balsam combination (topical) _________________________ BRAND NAMES (Manufacturers) Anumed HC (Major) Anusol HC (Parke-Davis) Hemorrhoidal HC (various manufacturers) Rectacort (Century) TYPE OF DRUG Adrenocorticosteroid-containing hemorrhoidal and anorectal product INGREDIENTS hydrocortisone, benzyl benzoate, bismuth resorcin compound, bismuth subgallate, zinc oxide, and Peruvian balsam DOSAGE FORMS Rectal cream (0.5% hydrocortisone, 1.2% benzyl benzoate, 1.75% bismuth resorcin compound, 2.25% bismuth subgallate, 11% zinc oxide, and 1.8% Peruvian balsam) Rectal suppositories (10 mg hydrocortisone, 1.2% benzyl benzoate, 1.75% bismuth resorcin compound, 2.25% bismuthsubgallate, 11% zinc oxide, and 1.8% Peruvian balsam per suppository) STORAGE The rectal cream should be stored at room temperature (never frozen) in a tightly closed container. The rectal suppositories should be stored in a cool, dry place or in the refrigerator. This combination medication is used to relieve the pain, itching, and discomfort arising from hemorrhoids and irritated anorectal tissues. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Hydrocortisone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like drugs). Hydrocortisone is used to relieve inflammation (redness, swelling, itching, and discomfort). Zinc oxide is an astringent that causes shrinking and provides relief of irritation. The other ingredients provide a drying and softening effect. TREATMENT Wash your hands before applying this medication. To apply the rectal cream, first wash and dry the rectal area and then gently rub in a small amount of the cream. If you must insert the cream inside the rectum, attach the applicator tip to the opened tube. It may be helpful to lubricate the applicator with a small amount of petroleum jelly to ease insertion. Insert the applicator tip into the rectum and squeeze the tube. Remove the applicator from the tube and wash it with hot water and soap; then thoroughly dry it before storing. Be sure to put the top back on the tube. Wash your hands again after application. To insert the suppository, unwrap the suppository and moisten it slightly with water (if the suppository is too soft to insert, run cold water over it or refrigerate it for up to 30 minutes before you unwrap it). Lie down on your left side with your right knee bent. Push the suppository well into the rectum with your finger. Try not to have a bowel movement for at least an hour. Wash your hands again after application. If you miss a dose of this medication, apply the cream or insert the suppository as soon as possible, unless it is almost time for the next application. In that case, do not use the missed dose at all; just wait until the next scheduled dose. SIDE EFFECTS Minor. Burning sensation upon application. The burning should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about any additional inflammation or infection at the site of application, as well as rectal pain, bleeding, leakage, itching, or blistering. INTERACTIONS This medication should not interact with any other medications as long as it is used according to the directions given to you by the doctor or pharmacist. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to benzyl benzoate, bismuth resorcin compound, bismuth subgallate, Peruvian balsam, or to hydrocortisone or any other adrenocorticosteroid (such as amcinonide, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, flurandrenolide, halcinonide, methylprednisolone, paramethasone, prednisolone, prednisone, and triamcinolone). * If additional irritation develops while using this drug, immediately discontinue its use and notify your doctor. * You should not use this medication for more than seven consecutive days unless your doctor specifically directs you to do so. * If this drug stains your clothing, the stain may be removed by washing with laundry detergent. * Wearing a sanitary napkin may help to protect clothing and to keep the medication in the area. * Be sure to tell your doctor if you are pregnant. If large amounts of hydrocortisone are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Studies in humans have not been conducted, but birth defects have been observed in the offspring of animals that were given large oral doses of hydrocortisone during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the skin, small amounts of hydrocortisone pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid hormone production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydrocortisone, benzyl benzoate, bismuth resorcin ...pound, bismuth subgallate, zinc oxide, and Peruvian balsam combination (topical)tion pagetitle hydrocortisone, benzyl benzoate, bismuth resorcin compound, bismuth subgallate, zinc oxide, and Peruvian balsam combination (topical) 03184.TXT Copyright (C) 1993 Publications International, Ltd. hydrocortisone, polymyxin B, and neomycin combination (otic) _________________________ BRAND NAMES (Manufacturers) AK-Spore H.C. Otic (Akorn) Cortatrigen Modified Ear Drops (Goldline) Cortisporin Otic (Burroughs Wellcome) Drotic (Ascher) Ortega-Otic M (Ortega) Otocort (Lemmon) Otomycin-Hpn Otic (Misemer) TYPE OF DRUG Otic adrenocorticosteroid and antibiotic INGREDIENTS hydrocortisone, polymyxin B, and neomycin DOSAGE FORMS Otic solution (1% hydrocortisone, 10,000 units polymyxin B, and 5 mg neomycin per ml) Otic suspension (1% hydrocortisone, 10,000 units polymyxin B, and 5 mg neomycin per ml) STORAGE The medication should be stored at room temperature (never frozen) in tightly closed, light-resistant containers. This medication is used to treat superficial bacterial infections of the outer ear. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Hydrocortisone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve inflammation (redness, swelling, itching, pain). Polymyxin B and neomycin are antibiotics, which act to prevent the growth and multiplication of the infecting bacteria. TREATMENT For accuracy, and in order to avoid contamination, another person should insert the ear drops if possible. To warm the drops before administration, roll the bottle back and forth between your hands. DO NOT place the bottle in boiling water; high temperatures destroy the medication. Before administration, the suspension form of this medication should be shaken well. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. To administer the ear drops, tilt the head to one side with the affected ear turned upward. Grasp the earlobe and gently pull it upward and back to straighten the ear canal. (If administering ear drops to a child, gently pull the earlobe downward and back.) Fill the dropper and place the prescribed number of drops into the ear. Be careful not to touch the dropper to the ear canal, since the dropper can easily become contaminated. Keep the ear tilted upward for about five minutes. Your doctor may want you to put a piece of cotton soaked with the medication into your ear to keep the medicine from leaking out. To avoid contamination, DO NOT wash or wipe the dropper after you use it. If you miss a dose, administer as soon as possible, unless it is almost time for the next dose. In that case, don't use the missed dose at all; return to your regular dosing schedule. It is important to continue to take this medication for the entire time prescribed by your doctor, even if the symptoms of infection disappear before the end of that period. If you stop using the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Burning sensation upon application. The burning should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about itching, rash, redness, or swelling at the site of application. INTERACTIONS This medication should not interact with any other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to hydrocortisone or any other adrenocorticosteroids (such as amcinonide, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, flurandrenolide, halcinonide, methylprednisolone, prednisolone, prednisone, and triamcinolone), to polymyxin B, or to neomycin or any related antibiotic (such as amikacin, colistimethate, colistin, gentamicin, kanamycin, netilmicin, paromycin, streptomycin, tobramycin, or viomycin). * Tell your doctor if you now have or if you have ever had viral or fungal infections of the ear, a punctured eardrum, myasthenia gravis, or kidney disease. * Do not use this medication for longer than ten consecutive days, unless your doctor directs you to do so. If there is no change in your condition within two or three days after starting to take this medication, contact your doctor. The medication may not be effective for the type of infection you have. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. If large amounts of hydrocortisone are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Studies in humans have not been conducted, but birth defects have been observed in the offspring of animals that were given large oral doses of hydrocortisone during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the skin, small amounts of the drug pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid hormone production in the infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydrocortisone, polymyxin B, and neomycin combina...n (otic) spa pagetitle hydrocortisone, polymyxin B, and neomycin combination (otic) 03185.TXT Copyright (C) 1993 Publications International, Ltd. hydrocortisone, polymyxin B, neomycin, and bacitracin combination (ophthalmic) _________________________ BRAND NAMES (Manufacturers) Coracin (Hauck) Cortisporin Ophthalmic (Burroughs Wellcome) Triple Antibiotic with HC (various manufacturers) Triple-Gen (Goldline) TYPE OF DRUG Ophthalmic adrenocorticosteroid and antibiotic INGREDIENTS hydrocortisone, polymyxin B, neomycin, and bacitracin (ointment only) DOSAGE FORMS Ophthalmic drops (1% hydrocortisone; 10,000 units polymyxin B; 0.5% neomycin; and 0.001% thimerosal per ml) Ophthalmic ointment (1% hydrocortisone; 10,000 units polymyxin B; 0.5% neomycin; 400 units bacitracin) STORAGE This medication should be stored at room temperature (never frozen) in tightly closed containers. If the drops or ointment change color, do not use the medication. A change in color signifies a loss of effectiveness. This medication is used for the short-term treatment of bacterial infections of the eyes. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Hydrocortisone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve inflammation (redness, swelling, itching, and discomfort). How it does so is not completely understood. Polymyxin B, neomycin, and bacitracin are antibiotics, which act to prevent the growth and multiplication of infecting bacteria. Thimerosal is a preservative. TREATMENT Wash your hands with soap and water before using this medication. If you are using the drops, shake the bottle well before measuring out the drops. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. To prevent contamination of the medicine, do not touch the tube portion of the dropper or let it touch the eye. Note that the bottle of the eye drops is not completely full. This is to allow control of the number of drops used. To apply the drops, tilt your head back and pull down the lower eyelid with one hand to make a pouch below the eye. Drop the prescribed amount of medicine into the pouch and slowly close your eyes. Try not to blink. Keep your eyes closed, and place one finger at the corner of the eye next to your nose for a minute or two, applying a slight pressure (this is done to prevent loss of medication through the duct that drains fluid from the surface of the eye into the nose and throat). Then wipe away any excess with a clean tissue. If you don't think the medicine got into your eye, repeat the process once. If you are using more than one type of eye drop, wait at least five minutes between doses of the two types of medication. Follow the same general procedure for applying the ointment. Tilt your head back, pull down the lower eyelid, and squeeze the ointment in a line along the pouch below the eye. Close your eyes, and place your finger at the corner of the eye near the nose for a minute or two. Do not rub your eyes. Wipe off excess ointment and the tip of the tube with clean tissues. Since applying the medication is somewhat difficult to do, you may want someone else to apply it for you. If you miss a dose of this medication, insert the drops or apply the ointment as soon as possible, unless it is almost time for the next application. In that case, do not use the missed dose at all; just wait until the next scheduled dose. It is important to continue to take this medication for the entire time prescribed by your doctor, even if the symptoms of infection disappear before the end of that period. If you stop applying the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Blurred vision, burning, or stinging. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about disturbed or reduced vision; eye pain, itching, or swelling; headache; rash; continued burning; or severe irritation. INTERACTIONS This medication should not interact with other medications as long as it is used according to the directions given to you by your doctor or pharmacist. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to hydrocortisone or other adrenocorticosteroids (such as amcinonide, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluorometholone, flurandrenolide, halcinonide, methylprednisolone, prednisolone, prednisone, and triamcinolone) or to polymyxin B, neomycin, bacitracin, or any related antibiotic (amikacin, colistimethate, colistin, gentamicin, kanamycin, neomycin, netilmicin, paromycin, streptomycin, tobramycin, or viomycin), or to thimerosal or other mercury compounds. * Tell your doctor if you now have or if you have ever had fungal or viral infections of the eye, cataracts, glaucoma, inner ear disease, kidney disease, or myasthenia gravis. * Tell your doctor if you wear contact lenses. Your doctor may suggest that you wear eyeglasses until the infection is gone. * If there is no change in your condition two or three days after starting to take this medication, contact your doctor. The medication may not be effective for your particular infection. * Do not use this drug for longer than ten consecutive days, unless your doctor directs you to. Prolonged use of this drug may result in glaucoma, secondary infection, cataracts, or eye damage. If you need to take this drug for as long as six weeks, your doctor may want you to have an eye examination by an ophthalmologist. * This medication has been prescribed for your current infection only. Another infection later on, or one that a family member or friend has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * In order to allow your eye infection to clear, you should not apply makeup to the affected eye during treatment with this medication. * Be sure to tell your doctor if you are pregnant. When large amounts of hydrocortisone are applied for prolonged periods, some of it is absorbed into the bloodstream. It may cross the placenta. Studies in humans have not been conducted, but birth defects have been observed in the offspring of animals that were given large oral doses of hydrocortisone during pregnancy. Also, tell your doctor if you are breast-feeding. If absorbed through the skin, small amounts of hydrocortisone pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid hormone production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydrocortisone, polymyxin B, neomycin, and bacitrac...combination (ophthalmic)g, n pagetitle hydrocortisone, polymyxin B, neomycin, and bacitracin combination (ophthalmic) 03186.TXT Copyright (C) 1993 Publications International, Ltd. hydromorphone _________________________ BRAND NAMES (Manufacturers) Dilaudid (Knoll) hydromorphone hydrochloride (various manufacturers) TYPE OF DRUG Analgesic INGREDIENT hydromorphone DOSAGE FORMS Tablets (1 mg, 2 mg, 3 mg, and 4 mg) Suppositories (3 mg) STORAGE Hydromorphone tablets should be stored at room temperature in a tightly closed, light-resistant container. The suppositories should be stored in the refrigerator. Hydromorphone is a narcotic analgesic that acts directly on the central nervous system (brain and spinal cord). It is used to relieve moderate to severe pain. TREATMENT In order to avoid stomach upset, you can take hydromorphone tablets with food or milk. To use the suppository, remove the foil wrapper and moisten the suppository with water (if the suppository is too soft to insert, refrigerate it for half an hour or run cold water over it before removing the wrapper). Lie on your left side with your right knee bent. Push the suppository into the rectum, pointed end first. Lie still for a few minutes. Try to avoid having a bowel movement for at least an hour. Hydromorphone works best if you take it at the onset of pain, rather than when the pain becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, confusion, continued constipation, difficult or painful urination, difficulty in breathing, excitability, fatigue, rash, restlessness, sore throat and fever, tremors, or weakness. INTERACTIONS Hydromorphone interacts with several other types of drugs: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to hydromorphone or to any other narcotic analgesics (such as codeine, hydrocodone, meperidine, methadone, morphine, oxycodone, and propoxyphene). * Tell your doctor if you now have or if you have ever had acute abdominal conditions, asthma, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, emotional disorders, prostate disease, thyroid disease, or urethral stricture. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Hydromorphone has the potential for abuse and must be used with caution. Usually, you should not take it on a regular schedule for longer than ten days (unless your doctor directs you to do so). Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually. * The elderly may be more sensitive to side effects, especially constipation, mental effects, or breathing problems. Report any such effects to your doctor. * Be sure to tell your doctor if you are pregnant. The effects of this medication during the early stages of pregnancy have not been thoroughly studied in humans. However, hydromorphone used regularly in large doses during the later stages of pregnancy can result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Also, be sure to tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydromorphone pagetitle hydromorphone 03187.TXT Copyright (C) 1993 Publications International, Ltd. hydroxyzine _________________________ BRAND NAMES (Manufacturers) Anxanil (EconoMed) Atarax (Roerig) hydroxyzine hydrochloride (various manufacturers) hydroxyzine pamoate (various manufacturers) Vistaril (Pfizer) TYPE OF DRUG Antihistamine and sedative/hypnotic INGREDIENT hydroxyzine DOSAGE FORMS Tablets (10 mg, 25 mg, 50 mg, and 100 mg) Capsules (25 mg, 50 mg, and 100 mg) Oral syrup (10 mg per 5-ml spoonful, with 0.5% alcohol) Oral suspension (25 mg per 5-ml spoonful) STORAGE Hydroxyzine tablets, capsules, oral syrup, and oral suspension should be stored at room temperature in tightly closed, light-resistant containers. This medication should never be frozen. Hydroxyzine belongs to a group of drugs known as antihistamines (antihistamines block the action of histamine, which is a chemical that is released by the body during an allergic reaction). This medication is used to treat or prevent symptoms of allergy. It is also used as a sleeping aid and to relieve the symptoms of anxiety and tension. TREATMENT To avoid stomach upset, you can take hydroxyzine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose of the oral syrup or oral suspension should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough for medical purposes. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Drowsiness or dry mouth. These side effects should disappear as your body adjusts to the medication. Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about convulsions, feeling faint, irritability, mental confusion, rash, or trembling or shakiness. INTERACTIONS Hydroxyzine can interact with other types of drugs: Concurrent use of it with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about allergic or unusual reactions you have had to medications, especially to hydroxyzine or to any other antihistamines (such as azatadine, brompheniramine, carbinoxamine, chlorpheniramine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine). * Hydroxyzine can cause drowsiness or dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Elderly patients may be more sensitive to side effects, especially drowsiness, confusion, and irritability. Report any such effects to your doctor. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of hydroxyzine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Atarax 10 mg,Atarax 25 mg,Vistaril 0318701.scf,0318702.scf,0318703.scf hydroxyzine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle hydroxyzine 03188.TXT pagetitle ibuprofen Copyright (C) 1993 Publications International, Ltd. ibuprofen _________________________ BRAND NAMES (Manufacturers) Aches-N-Pain [*] (Lederle) Advil [*] (Whitehall) Children's Advil (Whitehall) Genpril [*] (Goldline) Haltran [*] (Roberts) Ibuprin [*] (Thompson Medical) ibuprofen (various manufacturers) Medipren [*] (McNeil CPC) Midol 200 [*] (Glenbrook) Motrin (Upjohn) Motrin IB [*] (Upjohn) Nuprin [*] (Bristol-Myers) Pamprin-IB [*] (Chattem) PediaProfen (McNeil CPC) Rufen (Boots) Trendar [*] (Whitehall) * Available over-the-counter (without a prescription) as 200-mg tablets. TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT ibuprofen DOSAGE FORMs Tablets (200 mg, 300 mg, 400 mg, 600 mg, and 800 mg) Oral suspension (100 mg per 5-ml spoonful) STORAGE Store in a tightly closed, light-resistant container at room temperature. This medication should never be frozen. Ibuprofen is used to treat the inflammation (pain, swelling, stiffness) of certain types of arthritis, gout, bursitis, and tendinitis. It is also used to treat painful menstruation. Ibuprofen has been shown to block production of certain body chemicals, called prostaglandins, that may trigger pain. TREATMENT You should take this medication on an empty stomach 30 to 60 minutes before meals or two hours after meals, so that it gets into your bloodstream quickly. However, to decrease stomach irritation, your doctor may want you to take the medication with food or antacids. The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose of the oral syrup or oral suspension should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you are taking ibuprofen to relieve arthritis, you must take it regularly as directed by your doctor. It may take up to two weeks before you feel the full effects of this medication. Ibuprofen does not cure arthritis, but it will help to control the condition as long as you continue to take it. It is important to take ibuprofen on schedule and not to miss any doses. If you do miss a dose, take it as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, soreness of the mouth, unusual sweating, or vomiting. As your body adjusts to the drug, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. If any side effects are persistent or particularly bothersome, you should report them to your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; difficult or painful urination; palpitations; a problem with hearing; ringing or buzzing in your ears; skin rash, hives, or itching; stomach pain; swelling of the feet; tightness in the chest; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; wheezing or difficulty in breathing; or yellowing of the eyes or skin. INTERACTIONS Ibuprofen interacts with several other types of medications: 1. Anticoagulants (blood thinners, such as warfarin) can lead to an increase in bleeding complications. 2. Aspirin, other salicylates, and other anti-inflammatory medications can increase stomach irritation. Aspirin may also decrease the effectiveness of ibuprofen. 3. Ibuprofen can interact with diuretics (water pills). 4. Probenecid may increase blood levels of ibuprofen, which may increase the risk of side effects. 5. The action of beta blockers may be decreased by this drug. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Before you start to take this medication, it is important to tell your doctor if you have ever had unusual or allergic reactions to ibuprofen, or to any of the other chemically related drugs (aspirin, other salicylates, diclofenac, diflunisal, fenoprofen, flurbiprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, or tolmetin). * Tell your doctor if you now have or if you have ever had bleeding problems, colitis, stomach ulcers or other stomach problems, epilepsy, heart disease, high blood pressure, asthma, kidney disease, liver disease, mental illness, or Parkinson's disease. * If ibuprofen makes you dizzy or drowsy, do not take part in any activity that requires alertness. * Because this drug can prolong bleeding time, tell your doctor or dentist you are taking this drug before having surgery or other medical or dental treatment. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. These should, therefore, be avoided (unless your doctor directs you to do otherwise). * The elderly may be at increased risk for experiencing side effects of this drug. * Be sure to tell your doctor if you are pregnant. This type of medication can cause unwanted effects to the heart or blood flow of the fetus. Studies in animals have also shown that this type of medicine, if taken late in pregnancy, may increase the length of pregnancy, prolong labor, or cause other problems during delivery. Also, tell your doctor if you are breast-feeding an infant. Small amounts of ibuprofen can pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Motrin 300 mg,Motrin 400 mg,Motrin 600 mg,Rufen 400 mg,Rufen 600 mg 0318801.scf,0318802.scf,0318803.scf,0318804.scf,0318805.scf; ibuprofen logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials 03189.TXT Copyright (C) 1993 Publications International, Ltd. imipramine _________________________ BRAND NAMES (Manufacturers) imipramine hydrochloride (various manufacturers) Janimine (Abbott) Tipramine (Major) Tofranil (Geigy) Tofranil-PM (Geigy) TYPE OF DRUG Tricyclic antidepressant INGREDIENT imipramine DOSAGE FORMS Tablets (10 mg, 25 mg, and 50 mg) Capsules (75 mg, 100 mg, 125 mg, and 150 mg) STORAGE Store at room temperature in a tightly closed container. Imipramine is used to relieve the symptoms of mental depression. This medication belongs to a group of drugs referred to as tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals necessary for nerve transmission in the brain. This medication is also used to treat enuresis (bed-wetting) in children six to 12 years of age. TREATMENT Imipramine should be taken exactly as your doctor prescribes. It can be taken with water or with food to lessen the chance of stomach irritation, unless your doctor tells you to do otherwise. If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular dosing schedule. If, however, the dose you missed was a once-a-day bedtime dose, do not take that dose in the morning; check with your doctor instead. If the dose is taken in the morning, it may cause unwanted side effects. Never double the dose. The effects of therapy with this medication may not become apparent for two or three weeks. SIDE EFFECTS Minor. Agitation, anxiety, blurred vision, confusion, constipation, cramps, diarrhea, dizziness, drowsiness, dry mouth, fatigue, heartburn, insomnia, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. As your body adjusts to the medication, these side effects should disappear. This drug may cause increased sensitivity to sunlight. Therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. Dry mouth caused by therapy with this medication can be relieved by chewing sugarless gum or by sucking on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pains, convulsions, difficulty in urinating, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, headaches, impotence, mood changes, mouth sores, nervousness, nightmares, numbness in the fingers or toes, palpitations, ringing in the ears, seizures, skin rash, sleep disorders, sore throat, tremors, uncoordinated movements or balance problems, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Imipramine interacts with a number of other types of medications: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with other tricyclic antidepressants. 2. Imipramine may decrease the effectiveness of antiseizure medications and may block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Oral contraceptives (birth control pills) and estrogen-containing drugs can increase the side effects and reduce the effectiveness of the tricyclic antidepressants (including imipramine). 4. Cimetidine can decrease the breakdown of imipramine in the body, thus increasing the possibility of side effects. 5. Tricyclic antidepressants may increase the side effects of thyroid medication and of over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, and diet medications. 6. The concurrent use of tricyclic antidepressants and monoamine oxidase (MAO) inhibitors should be avoided, because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to any medications, especially to imipramine or any of the other tricyclic antidepressants (such as amitriptyline, doxepin, trimipramine, amoxapine, protriptyline, desipramine, maprotiline, and nortriptyline). * Tell your doctor if you have a history of alcoholism or if you have ever had asthma, high blood pressure, liver or kidney disease, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If the use of imipramine makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Do not stop taking this drug suddenly. Stopping it abruptly can cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The effects of this medication may last as long as seven days after you stop taking it, so continue to observe all precautions during that period. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (skin rash, fainting, difficulty in breathing) in certain susceptible individuals. * The elderly may be at increased risk for experiencing side effects. Report any such effects, especially dizziness, drowsiness, dry mouth, difficulty urinating, or mental confusion to your doctor. * Be sure to tell your doctor if you are pregnant. Adverse effects have been observed in the fetuses of animals that were given large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug can pass into breast milk and may cause unwanted effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Tofranil-PM 0318901.scf imipramineW logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle imipramine 03190.TXT Copyright (C) 1993 Publications International, Ltd. indapamide _________________________ BRAND NAME (Manufacturer) Lozol (Rorer) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT indapamide DOSAGE FORM Tablets (2.5 mg) STORAGE Store at room temperature in a tightly closed container. Indapamide is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some drugs. This drug reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To decrease stomach irritation, you can take indapamide with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or upset stomach. As your body adjusts to the medication, these side effects should disappear. This drug can cause increased sensitivity to sunlight. Therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, itching, joint pain, mood changes, muscle pain or spasms, nausea, palpitations, skin rash, sore throat, tingling in the fingers or toes, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS Indapamide interacts with several other types of medications: 1. It may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 2. Fenfluramine can increase the blood-pressure-lowering effects of indapamide (which can be dangerous). 3. Indomethacin can decrease the blood-pressure-lowering effects of indapamide, thereby counteracting the desired effects. 4. Cholestyramine and colestipol can decrease the absorption of this medication from the gastrointestinal tract. Indapamide should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these drugs). 5. Indapamide may increase the side effects of amphotericin B, calcium, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, and vitamin D. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to indapamide or any other sulfa drugs, including other diuretics, oral antidiabetic medications, and sulfonamide antibiotics. * Tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreatic disease, or systemic lupus erythematosus. * Indapamide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help avoid potassium loss, take this drug with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. Your doctor may want to have blood tests performed periodically to monitor your potassium levels. * In order to avoid dizziness or fainting while taking this medication, try not to stand for long periods of time; avoid drinking excessive amounts of alcohol; and avoid getting overheated (do not perform strenuous exercise in hot weather or take hot baths, showers, or saunas). * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, cough, cold, or sinus problems unless your doctor directs you to do so. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Therefore, blood sugar levels should be carefully monitored by blood or urine tests when this medication is being taken. * Be sure to tell your doctor if you are pregnant. Studies in humans have not been conducted, but adverse effects have been observed in the fetuses of animals that received large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of this medication can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. indapamide3. C pagetitle indapamide 03191.TXT Copyright (C) 1993 Publications International, Ltd. indomethacin _________________________ BRAND NAMES (Manufacturers) Indocin (Merck Sharp & Dohme) Indocin SR (Merck Sharp & Dohme) indomethacin (various manufacturers) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT indomethacin DOSAGE FORMS Capsules (25 mg and 50 mg) Extended-release capsules (75 mg) Oral suspension (25 mg per 5-ml spoonful, with 1% alcohol) Rectal suppositories (50 mg) STORAGE Indomethacin capsules, oral suspension, and rectal suppositories should be stored in closed containers at room temperature away from heat and direct sunlight. The rectal suppositories can also be stored in the refrigerator. Indomethacin is used to treat the inflammation (pain, swelling, and stiffness) of certain types of arthritis, gout, bursitis, and tendinitis. Indomethacin has been shown to block the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not yet fully understood how indomethacin works. TREATMENT You should take this drug immediately after meals or with food, in order to reduce stomach irritation. Ask your doctor if you can take indomethacin with an antacid. Do not chew or crush the extended-release capsules; they should be swallowed whole. Breaking the capsule would release the medication all at once--defeating the purpose of the extended-release dosage form. The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. To use the rectal suppository form of this medication, remove the foil wrapper, and moisten the suppository with water. If the suppository is too soft to insert, refrigerate it for 30 minutes or run cold water over it before removing the foil wrapper. Lie on your left side with your right knee bent. Push the suppository into the rectum, pointed end first. Lie still for a few minutes. Try to avoid having a bowel movement for at least one hour. It is important to take indomethacin on schedule and not to miss any doses. If you do miss a dose, take the missed dose as soon as possible, unless more than an hour has passed. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. This drug does not cure arthritis, but will help to control the condition as long as you continue to take it. It may take up to four weeks before you feel the full benefits of this medication. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, soreness of the mouth, unusual sweating, or vomiting. As you adjust to the drug, the side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; difficult or painful urination; palpitations; a problem with hearing; ringing or buzzing in the ears; skin rash, hives, or itching; stomach pain; swelling of the feet; rectal irritation; tightness in the chest; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; wheezing or difficulty in breathing; or yellowing of the eyes or skin. INTERACTIONS Indomethacin interacts with several other types of drugs: 1. Use of anticoagulants (blood thinners, such as warfarin) can lead to an increase in bleeding complications. 2. Anti-inflammatory medications such as aspirin, salicylates, and diflunisal can cause increased stomach irritation when used while taking this drug. 3. Indomethacin can decrease the elimination of lithium from the body, possibly resulting in lithium toxicity. 4. Indomethacin may interfere with the blood-pressure-lowering effects of captopril, enalapril, or beta-blocking medications (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, timolol). 5. Indomethacin can interfere with the diuretic effects of furosemide and thiazide-type diuretics (water pills). 6. Indomethacin can alter the effects of the potassium-sparing diuretics (such as amiloride, spironolactone, or triamterene). 7. The concurrent use of triamterene and indomethacin can result in kidney problems. 8. Probenecid can increase the amount of indomethacin in the bloodstream when both drugs are being taken. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to any medications, especially to indomethacin or any chemically related drugs. * Before taking indomethacin, tell your doctor if you now have or if you have ever had bleeding problems, colitis, stomach ulcers or other stomach problems, epilepsy, heart disease, high blood pressure, asthma, kidney disease, liver disease, mental illness, or Parkinson's disease. * If indomethacin makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * If you will be taking this medication for a long period of time, your doctor may want to have your eyes examined periodically by an ophthalmologist. Some visual problems have been known to occur with long-term indomethacin use. Your doctor might want to keep a careful watch for these. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. These should therefore be avoided (unless your doctor directs you to do otherwise). * The elderly may be at increased risk for experiencing side effects of this drug. * Be sure to tell your doctor if you are pregnant. Studies in animals have shown that indomethacin can cause unwanted effects in offspring, including lower birth weights, slower development of bones, nerve damage, and heart damage. If taken late in pregnancy, the drug can also prolong labor. Studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding. Small amounts of indomethacin can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Indocin 25 mg,Indocin 50 mg,Indocin SR 0319101.scf,0319102.scf,0319103.scf domethacin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField l!D!i! Additional Materials !pagetitle indomethacin indomethacin 03192.TXT pagetitle insulin Copyright (C) 1993 Publications International, Ltd. insulin _________________________ BRAND NAMES (Manufacturers) Humulin L (Lilly) Humulin N (Lilly) Humulin R (Lilly) Iletin I (Lilly) Iletin II (Lilly) Insulatard NPH (Novo Nordisk) Mixtard (Novo Nordisk) Novolin (Novo Nordisk) Velosulin (Novo Nordisk) TYPE OF DRUG Antidiabetic INGREDIENT insulin DOSAGE FORM Injectable (all types) (100 units/ml) Injectable (regular) (100 units/ml, 500 units/ml) This drug is available only as an injectable (if swallowed, it is destroyed by stomach acid). Various types of insulin provide different times of onset and durations of action (see below). ______________________________________ Insulin type Onset of action Duration of action (in hours) (in hours) ______________________________________ Regular insulin 1/2 6 Insulin zinc 1 1/2 14 suspension, prompt (Semilente) Isophane insulin 1 24 (NPH) Insulin zinc 1 24 suspension (Lente) Protamine zinc 6 36 insulin (PZI) Insulin zinc 6 36 suspension, extended (Ultralente) ----------------------------------------------------- STORAGE After opening, keep most forms (except 500 units/ml strength) at room temperature if used in six months. Refrigerate unopened vials. Never freeze insulin. Insulin is a hormone that is normally produced by the pancreas; it functions in the regulation of blood sugar levels. This medication is used to treat diabetes mellitus (sugar diabetes) a disorder that results from an inability of the pancreas to produce enough insulin. Injectable insulin is used only to treat those patients whose blood sugar levels cannot be controlled by diet or by oral antidiabetic medications. TREATMENT Your doctor, nurse, dietitian, or pharmacist will show you how to inject insulin, using a specially marked hypodermic syringe. This medication is packaged with printed instructions that should be carefully followed. You may prefer to use presterilized disposable needles and syringes, which are used once and then discarded. If you use a glass syringe and metal needle, you must sterilize them before reuse. Make sure that the insulin you are using is exactly the kind your doctor ordered and that its expiration date has not passed. Do not shake the bottle; tip it gently, end to end, to mix. ALWAYS CHECK THE DOSE in the syringe at least twice before injecting it. Clean the site of the injection thoroughly with an antiseptic, such as rubbing alcohol. Change the site of the injection daily, and avoid injecting cold insulin. NEVER use a vial of insulin if there are lumps in it. Make your insulin injection a regular part of your schedule, so that you do not miss any doses. Ask your doctor what to do if you have to take a dose later than the scheduled time. SIDE EFFECTS Minor. Insulin can cause redness and rash at the site of injection. Try to rotate injection sites in order to avoid this reaction. Major. Be sure to tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about palpitations, fainting, shortness of breath, skin rash, or sweating. Too much insulin can cause hypoglycemia (low blood sugar), which can lead to anxiety, chills, cold sweats, drowsiness, fast heart rate, headache, loss of consciousness, nausea, nervousness, tremors, unusual hunger, or unusual weakness. If you experience these symptoms, eat a quick source of sugar (such as table sugar, orange juice, honey, or a nondiet cola). You should also tell your doctor that you have had this reaction. Too little insulin can cause symptoms of hyperglycemia (high blood sugar), such as confusion, drowsiness, dry skin, fatigue, flushing, frequent urination, fruit-like breath odor, loss of appetite, or rapid breathing. If you experience any of these symptoms, contact your doctor; he or she may want to modify your dosing schedule or change your insulin dosage. INTERACTIONS Insulin interacts with several other types of medications: 1. Insulin can increase digoxin's side effects to the heart. 2. Oral contraceptives (birth control pills), adrenocorticosteroids (cortisone-like medicines), danazol, dextrothyroxine, furosemide, ethacrynic acid, thyroid hormone, thiazide diuretics (water pills), phenytoin, or nicotine (from smoking) can increase insulin requirements. 3. Monoamine oxidase (MAO) inhibitors, phenylbutazone, fenfluramine, guanethidine, disopyramide, sulfinpyrazone, tetracycline, alcohol, anabolic steroids, or large doses of aspirin can increase the effects of insulin, leading to hypoglycemia. 4. Beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, timolol) may prolong the effects of insulin and mask the signs of hypoglycemia. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to insulin. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had high fevers, infections, kidney disease, liver disease, thyroid disease, or severe nausea and vomiting. * If your doctor prescribes two types of insulin to achieve better glucose control and recommends mixing the insulin into one syringe, always draw the regular insulin (clear) into the syringe first. * Some insulin mixtures won't interact with each other for some time. Others react quickly and require immediate injection. Consult your doctor or pharmacist about this. * Make sure that your friends and family are aware of the symptoms of an insulin reaction and know what to do should they observe any of the symptoms in you. * Carry a card or wear a bracelet that identifies you as a diabetic. * Always have insulin and syringes available. * When traveling, always carry an ample supply of your diabetic needs and, if possible, a prescription for insulin and syringes. Carry insulin and syringes on your person; baggage can be lost, delayed, or stolen. * Do not store insulin in your car's glove compartment. * To avoid the possibility of hypoglycemia (low blood sugar levels), you should eat on a regular schedule and should avoid skipping meals. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking insulin. * Check with your doctor or pharmacist before taking any over-the-counter (nonprescription) cough, cold, diet, allergy, asthma, or sinus medications. Some of these products affect blood sugar levels. * If you become ill--if you catch a cold or the flu or become nauseated--your insulin requirements may change. Consult your doctor. * Be sure to tell your doctor if you are pregnant. Insulin dosing requirements often change during pregnancy. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.................. insulin 03193.TXT Copyright (C) 1993 Publications International, Ltd. ipecac _________________________ BRAND NAME (Manufacturer) Ipecac (various manufacturers) Note: This product is available without a prescription. TYPE OF DRUG Emetic INGREDIENT ipecac DOSAGE FORM Oral syrup (with 1.5% or 2% alcohol) STORAGE Store at room temperature in a tightly closed container. Ipecac is for emergency use to treat drug overdose or poisoning. Ipecac works on the stomach and on the vomiting center in the brain to produce vomiting. TREATMENT Before administering ipecac, call a poison control center, emergency room, or physician for advice. You must administer ipecac with adequate amounts of water (1/2 glass for infants less than 1 year old; 1 to 2 glasses for children and adults) for adequate fluid in the stomach. If vomiting does not occur within 20 minutes after a second dose has been given, call again IMMEDIATELY for instructions. SIDE EFFECTS Minor. Ipecac can cause diarrhea, drowsiness, nausea, or vomiting that continues for more than 30 minutes. These side effects should disappear within several hours. Major. Be sure to tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about aching or stiffness of the muscles, difficulty in breathing, palpitations, stomach cramps or pain, or weakness as soon as possible. INTERACTIONS Ipecac oral syrup should not be administered with milk or with carbonated beverages; these fluids may affect how quickly ipecac works. Activated charcoal absorbs ipecac. If both activated charcoal and ipecac oral syrup are to be used, give the activated charcoal only after successful vomiting has been produced by the ipecac. WARNINGS * Vomiting is not the proper treatment in all cases of possible poisoning; ipecac should NOT be used if gasoline, oils, kerosene, acids, alkalies (lye), corrosives, or strychnine has been swallowed, since vomiting of these substances may cause seizures, additional throat burns, or pneumonia. * Ipecac should probably not be used if the poisoned patient is losing consciousness, has no gag reflex, is in shock, is having seizures, or has heart disease unless directed by a health professional. * Muscle and heart disorders and at least one death have been reported as a result of the chronic use of ipecac by young women who were using it to induce vomiting. * Ipecac is available over-the-counter (nonprescription) and can be purchased from most pharmacies. Mothers should have a one-ounce bottle of ipecac for each child in the house. Always call a poison control center, emergency room, or physician for instructions BEFORE administering ipecac. * Be sure to tell your doctor if the overdose or poisoning victim is pregnant. Although ipecac appears to be safe, studies in pregnant women have not been done. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ipecacdule pagetitle ipecac 03194.TXT Copyright (C) 1993 Publications International, Ltd. isoniazid _________________________ BRAND NAMES (Manufacturers) isoniazid (various manufacturers) Laniazid (Lannett) Nydrazid (Apothecon) TYPE OF DRUG Antitubercular INGREDIENT isoniazid DOSAGE FORMS Tablets (50 mg, 100 mg, and 300 mg) Oral syrup (50 mg per 5-ml spoonful) STORAGE Store at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. Isoniazid is used to prevent and treat tuberculosis. It acts by severely injuring the cell structure of tuberculosis bacteria, thereby preventing them from growing and multiplying. TREATMENT In order to avoid stomach irritation, you can take isoniazid with food or a full glass of water or milk (unless your doctor directs you to do otherwise). Antacids prevent the absorption of isoniazid from the gastrointestinal tract, so they should not be taken within an hour of a dose of isoniazid. Each dose of the oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough for medical purposes. It is important to continue to take this medication for the entire time prescribed by your doctor, even if your symptoms disappear before the end of that period. If you stop taking the drug too soon, your infection could recur. It is common for therapy to last for at least six months and, at times, for as long as two years. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, dizziness, heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, breast enlargement (in both sexes), chills, darkening of the urine, eye pain, fever, malaise, memory impairment, numbness or tingling in the fingers or toes, rash, unusual bleeding or bruising, vision changes, weakness, or yellowing of the eyes or skin. Your doctor may want to prescribe vitamin B6 (pyridoxine) to prevent the numbness and tingling. However, do not take vitamin B6 without consulting your doctor. INTERACTIONS Isoniazid interacts with several other types of medications: 1. Concurrent use of isoniazid and alcohol can lead to decreased effectiveness of isoniazid and increased side effects on the liver. 2. The combination of isoniazid and cycloserine can result in dizziness or drowsiness. 3. The combination of isoniazid and disulfiram can lead to dizziness, loss of coordination, irritability, and insomnia. 4. Isoniazid can decrease the breakdown of phenytoin and carbamazepine in the body, which can lead to an increase in side effects from phenytoin and carbamazepine. 5. Isoniazid can decrease the effectiveness of ketoconazole. 6. In combination, rifampin and isoniazid can increase the risk of liver damage. However, this is a commonly prescribed combination. 7. The effectiveness of isoniazid may be decreased by adrenocorticosteroids (cortisone-like medicines). 8. The side effects of benzodiazepine tranquilizers or meperidine may be increased by isoniazid. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to isoniazid, ethionamide, pyrazinamide, or niacin (vitamin B3). * Before starting to take this medication, be sure to tell your doctor if you have a history of alcoholism, or if you now have or ever had kidney disease, liver disease, or seizures. * If this drug makes you dizzy, avoid tasks that require alertness, such as driving a car. * Your doctor may want you to have periodic eye examinations while taking this medication, especially if you begin to have vison side effects. * Isoniazid can interact with several foods (skipjack fish, tuna, yeast extracts, sauerkraut juice, sausages, and certain cheeses), leading to severe reactions. You should, therefore, avoid eating these foods while being treated with isoniazid. * Diabetics using Clinitest urine glucose tests may get erroneously high sugar readings while they are taking isoniazid. Temporarily changing to Clinistix or Tes-Tape urine tests avoids this problem. * Be sure to tell your doctor if you are pregnant. Although isoniazid appears to be safe during pregnancy, it does cross the placenta. Extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breastfeeding an infant. Small amounts of isoniazid pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. isoniazid pagetitle isoniazid 03195.TXT Copyright (C) 1993 Publications International, Ltd. isosorbide dinitrate _________________________ BRAND NAMES (Manufacturers) Dilatrate-SR (Reed & Carnrick) Iso-Bid (Geriatric) Isordil Tembids (Wyeth-Ayerst) Isordil Titradose (Wyeth-Ayerst) isosorbide dinitrate (various manufacturers) Isotrate Timecelles (Hauck) Sorbitrate (ICI Pharma) Sorbitrate SA (ICI Pharma) TYPE OF DRUG Antianginal INGREDIENT isosorbide dinitrate DOSAGE FORMS Tablets (5 mg, 10 mg, 20 mg, 30 mg, and 40 mg) Chewable tablets (5 mg and 10 mg) Sublingual tablets (2.5 mg, 5 mg, and 10 mg) Sustained-release tablets (40 mg) Sustained-release capsules (40 mg) STORAGE Isosorbide dinitrate tablets and capsules should be stored in a cool, dry place. This medication loses potency when exposed to heat or moisture. Isosorbide dinitrate is a vasodilator that relaxes the muscle of the blood vessels, leading to an increase in the oxygen supply to the heart. It is used to relieve (chewable and sublingual tablets) or to prevent (oral tablets and capsules) angina (chest pain). The chewable and sublingual tablets act quickly; they can be used to relieve chest pain after it has begun. The oral tablets and capsules do not act quickly; they are used only to prevent angina attacks. TREATMENT Take the chewable or sublingual forms of this medication at the first sign of an angina attack. DO NOT WAIT for the attack to become severe. Then sit down. These tablets are absorbed more completely through the lining of the mouth than from the stomach. Your mouth should be empty when you take these tablets. Do not eat, drink, or smoke with a tablet in your mouth. If the pain of an attack continues, you can take another tablet after five minutes, and a third tablet after another five minutes. If three tablets provide no relief within 15 minutes, CONTACT YOUR DOCTOR IMMEDIATELY or go to the nearest hospital. The chewable tablet should be chewed for at least two minutes before swallowing. Place the sublingual tablet under the tongue or against the cheek and allow it to dissolve--DO NOT CHEW OR SWALLOW IT. Do not swallow until the drug is dissolved, and do not rinse your mouth for several minutes (this gives a greater opportunity for the drug to be absorbed through the lining of the mouth). The regular tablets and the sustained-release forms of this medication should be taken with a full glass of water on an empty stomach. The sustained-release forms should be swallowed whole. Breaking, crushing, or chewing these tablets or capsules destroys their sustained-release activity and possibly increases the side effects. If you are taking this medication on a regular schedule, try not to miss any doses. If you do miss a dose, take the missed dose as soon as possible, unless it is within two hours of the next dose (or six hours for the sustained-release forms). In that case, do not take the missed dose at all; return to your regular dosing schedule. Do not double the next dose. Some doctors may recommend using this medication to prevent an anginal attack before expected physical or emotional stress. Discuss this with your doctor. SIDE EFFECTS Minor. Dizziness, flushing, headache, light-headedness, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Acetaminophen may help relieve headaches caused by this medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fainting spells, palpitations, rash, restlessness, sweating, or unusual weakness. INTERACTIONS Isosorbide dinitrate can interact with other types of drugs: 1. Isosorbide dinitrate, in combination with alcohol, can lead to dizziness and fainting. 2. Over-the-counter (nonprescription) sinus, allergy, cough, cold, asthma, and diet products can block the antiangina effects of isosorbide dinitrate. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to isosorbide dinitrate or to any other nitrate-containing drugs (such as nitroglycerin). * Before starting to take this medication, tell your doctor if you have ever had severe anemia, glaucoma, a heart attack, or thyroid disease. * Before using this medication to relieve chest pain, be certain that the pain arises from the heart and is not due to a muscle spasm or to indigestion. If your chest pain is not relieved by use of this drug, or if pain arises from a different location or differs in severity, CONSULT YOUR DOCTOR IMMEDIATELY. * If this drug makes you dizzy or light-headed, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Tolerance to this medication may develop. If the drug begins to lose its effectiveness, contact your doctor. * Isosorbide dinitrate should not be discontinued unless you first consult your doctor. Stopping the drug abruptly may lead to further chest pain. Your doctor may, therefore, want to decrease your dosage gradually. * If you have frequent diarrhea, you may not be absorbing the sustained-release form of this medication. Discuss this with your doctor. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe, extensive studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether isosorbide dinitrate passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Isordil 0319501.scf isosorbide dinitrate logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle isosorbide dinitrate 03196.TXT Copyright (C) 1993 Publications International, Ltd. isotretinoin _________________________ BRAND NAME (Manufacturer) Accutane (Roche) TYPE OF DRUG Acne preparation INGREDIENT isotretinoin DOSAGE FORM Capsules (10 mg, 20 mg, and 40 mg) STORAGE Isotretinoin should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat severe cystic acne. It is not clearly understood how isotretinoin works, but it decreases the production of sebum (a skin oil) and dries up the acne lesions. TREATMENT An information leaflet is packaged with this product. Be sure to read it carefully. Isotretinoin should be taken with meals to obtain maximum benefit. It may take one to two months before the maximum effects of this medication are observed. If you miss a dose of this medication, take the missed dose as soon as possible, and then return to your regular dosing schedule. However, if you do not remember until it is time for your next dose, double the next dose, and then return to your regular dosing schedule. SIDE EFFECTS Minor. Changes in skin color, drowsiness, dry lips or mouth, fatigue, fluid retention, headache, indigestion, inflammation of the eyelids, inflammation of the lips, irritation of the eyes, or thinning of the hair. These side effects may disappear as your body adjusts to the medication. You may notice a worsening of your acne for the first few days of treatment. This medication can cause increased sensitivity to sunlight. Therefore, avoid prolonged exposure to sunlight and sunlamps. You should wear protective clothing and sunglasses, and also use an effective sunscreen. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. If there is no relief within two weeks, consult your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about black, tarry stools; bruising; burning or tingling sensation of the skin; changes in the menstrual cycle; depression; dizziness; hives; muscle pain; peeling of the palms and soles; rash; visual disturbances; or weight loss. INTERACTIONS This medication interacts with the following substances: 1. The concurrent use of alcohol and isotretinoin can lead to an increase in blood lipid (fat) levels, which can be dangerous. 2. Vitamin A and isotretinoin together can result in additive toxic effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially vitamin A. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to isotretinoin, vitamin A, or the preservative parabens. * Before starting to take this medication, tell your doctor if you now have or if you have ever had diabetes mellitus (sugar diabetes) or hyperlipidemia (high blood lipid levels). * If this drug makes you drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Be sure to tell your doctor if you are pregnant. Isotretinoin has been shown to cause birth defects in humans. An effective form of birth control should be used by women of child-bearing age while they are taking this drug and for at least one month before and after they stop taking it. Within two weeks of starting this drug, women should have a blood pregnancy test. If the test is negative, the drug will be started on the second or third day of the next normal menstrual period. Women should have a pregnancy test each month while they take this medication. All women must also sign an informed-consent sheet. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this drug passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Accutane 0319601.scf isotretinoin7 logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle isotretinoin 03197.TXT Copyright (C) 1993 Publications International, Ltd. isradipine _________________________ BRAND NAME (Manufacturer) Dynacirc (Sandoz) TYPE OF DRUG Antianginal (calcium channel blocker) and antihypertensive INGREDIENT isradipine DOSAGE FORM Capsules (2.5 mg and 5 mg) STORAGE Isradipine should be stored at room temperature in a tightly closed container, out of the reach of children and away from moisture and direct light. Isradipine is used to treat high blood pressure. It belongs to a group of drugs known as calcium channel blockers, which are useful for several cardiovascular conditions. Calcium channel blockers are less likely than beta-blockers or thiazide diuretics to have adverse effects on plasma lipids or blood glucose control in hypertensive patients with diabetes, asthma, or hardening of the arteries. It is not fully understood how isradipine works, but by blocking calcium, it relaxes and prevents spasms of the blood vessels of the heart and reduces the oxygen needs of the heart muscle. Isradipine is also a potent vasodilator that relaxes the muscle tissue of the blood vessels, thereby lowering blood pressure. TREATMENT If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you have a heart condition and have been taking isradipine regularly, isradipine should not should be stopped suddenly as this may worsen your symptoms of heart disease. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. It may take several weeks to develop its full effect. SIDE EFFECTS Minor. Constipation, dizziness, flushing of the face, headaches, increased heart rate, nervousness, painful extremities, rash, stomach upset, and swollen ankles. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in menstruation, confusion, depression, fainting, fatigue, hair loss, itching, loss of balance, palpitations, rapid weight gain (three to five pounds within a week), recurrent infections, shortness of breath, swelling of the hands or feet, tremors, or unusual weakness. INTERACTIONS Isradipine may increase the blood pressure lowering effect of beta blockers, especially if there is a pre-existing heart condition. Isradipine may also increase the blood levels of the beta blocker, propranolol. Other drugs that may interact with isradipine are adenosine, calcium supplements, chlorpromazine, cimetidine, digoxin, fentanyl used in conjunction with anesthesia, phenylbutazone, prazosin, and tolbutamide. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to isradipine. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had any type of heart disease, kidney disease, liver disease, low blood pressure, or a slowed heartbeat. * Your doctor may want you to check your pulse regularly while you are taking this medication. If your heart rate drops below 50 beats per minute, contact your doctor. * If you experience angina symptoms, stopping this medication abruptly may lead to a worsening of your chest pain. Your doctor may, therefore, want to reduce your dosage gradually or have you switch to another medication when isradipine is discontinued. * In order to prevent dizziness or light-headedness while taking this medication, try not to stand for long periods of time, avoid drinking alcoholic beverages, and try not to become overheated. Avoid exercising strenuously in hot weather, and do not take hot baths, showers, and saunas. * Be sure to tell your doctor if you are pregnant. There are some indications that israpidine may cause birth defects in animals, but conclusive studies in humans have not been conducted. Also tell your doctor if you are breast-feeding an infant. It is not known whether isradipine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. isradipinecoun pagetitle isradipine 03198.TXT Copyright (C) 1993 Publications International, Ltd. ketoprofen _________________________ BRAND NAME (Manufacturer) Orudis (Wyeth-Ayerst) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT ketoprofen DOSAGE FORM Capsules (25 mg, 50 mg, and 75 mg) STORAGE Store at room temperature in a tightly closed container. Ketoprofen is used to treat rheumatoid arthritis and osteoarthritis. Ketoprofen has been shown to block the production of certain body chemicals, called prostaglandins, that trigger pain and inflammation. However, it is not yet fully understood how ketoprofen works. TREATMENT Ketoprofen should be taken immediately after meals or with food in order to reduce stomach irritation. Check with your doctor about taking ketoprofen with an antacid. Take ketoprofen on schedule and try not to miss any doses. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Ketoprofen does not cure arthritis, but it will help to control symptoms as long as you take the drug. SIDE EFFECTS Minor. Abdominal pain, changes in taste, constipation, decreased or increased appetite, diarrhea, dizziness, drowsiness, dry mouth, excessive salivation, fatigue, flushing, gas, headache, heartburn, increased heart rate, increased thirst, nausea, nosebleeds, sweating, vomiting, or weight change. These side effects should disappear as your body adjusts to this medication. Ketoprofen may cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about black or tarry stools, chills, confusion, decreased or painful urination, hair loss, itching, memory loss, mouth sores, muscle pains, palpitations, rash, shortness of breath, swelling of the feet, tingling in the fingers or toes, unusual bleeding or bruising, unusual weight gain, visual disturbances, or yellowing of the eyes or skin. INTERACTIONS Ketoprofen interacts with several other types of medications: 1. Ketoprofen can increase the risk of bleeding complications with anticoagulants (blood thinners, such as warfarin). 2. Ketoprofen can interfere with the diuretic effects of furosemide and thiazidetype diuretics (water pills). 3. Aspirin can alter the blood levels and elimination of ketoprofen from the body. 4. Probenecid can increase the blood levels of ketoprofen, which can lead to an increased chance of side effects. 5. The action of beta blockers may be affected by this drug. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to ketoprofen or to any other chemically related drugs, including aspirin, other salicylates, diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, indomethacin, meclofenamate, mefenamic acid, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, or tolmetin. * Before taking ketoprofen, tell your doctor if you now have or if you have ever had anemia, bleeding problems, gastrointestinal diseases, heart failure, hypertension, kidney disease, liver disease, or ulcers. * If ketoprofen makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * If vision problems develop while taking this medication, your doctor may refer you to an ophthalmologist. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. Your doctor or dentist may recommend stopping ketoprofen for several days prior to surgery, to decrease the risk of bleeding complications. * The elderly may be at increased risk of experiencing some of the side effects of this medication. * Be sure to tell your doctor if you are pregnant. Although ketoprofen appears to be safe in animals, studies in pregnant women have not been conducted. Ketoprofen should be avoided late in pregnancy because it can alter fetal heart circulation. Also tell your doctor if you are breast-feeding an infant. It is not yet known whether ketoprofen passes into human breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ketoprofent in pagetitle ketoprofen 03167.TXT Copyright (C) 1993 Publications International, Ltd. glipizide _________________________ BRAND NAME (Manufacturer) Glucotrol (Roerig) TYPE OF DRUG Oral antidiabetic INGREDIENT glipizide DOSAGE FORM Tablets (5 mg and 10 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Glipizide is used for the treatment of diabetes mellitus (sugar diabetes), which appears in adulthood and cannot be managed by control of diet alone. This type of diabetes is known as non-insulin-dependent diabetes (sometimes called maturity-onset or Type II diabetes). Glipizide lowers blood sugar levels by increasing the release of insulin from the pancreas. TREATMENT This medication should be taken on an empty stomach 30 minutes before a meal (unless your doctor directs you to do otherwise). It is important to try not to miss any doses of this medication. If you do miss a dose, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Tell your doctor if you feel any side effects from missing a dose of this drug. Diabetics who are taking oral antidiabetic medication may need to be switched to insulin if they develop diabetic coma, have a severe infection, are scheduled for major surgery, or become pregnant. SIDE EFFECTS Minor. Diarrhea, headache, heartburn, loss of appetite, nausea, stomach pain, stomach discomfort, or vomiting. These side effects usually go away during treatment, as your body adjusts to the medicine. Glipizide may increase your sensitivity to sunlight. It is therefore important to use caution during exposure to the sun. Use an effective sunscreen and avoid exposure to sunlamps. Major. If any side effects are persistent or particularly bothersome, it is important to notify your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about dark urine, fatigue, itching of the skin, light-colored stools, rash, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Glipizide interacts with a number of other medications. 1. Chloramphenicol, guanethidine, insulin, monoamine oxidase (MAO) inhibitors, oxyphenbutazone, oxytetracycline, phenylbutazone, probenecid, aspirin or other salicylates, and sulfonamide antibiotics, when combined with glipizide, can lower blood sugar levels--sometimes to dangerously low levels. 2. Thyroid hormones; dextrothyroxine; epinephrine; phenytoin; thiazide diuretics (water pills); and cortisone-like medications (such as dexamethasone, hydrocortisone, prednisone), combined with glipizide, can actually increase blood sugar levels--just what you are trying to avoid. 3. Anti-diabetic medications can increase the effects of warfarin, which can lead to bleeding complications. 4. Beta-blocking medications (atenolol, metoprolol, nadolol, pindolol, propranolol, and timolol), combined with glipizide, can result in either high or low blood sugar levels. Beta-blockers can also mask the symptoms of low blood sugar, which can be dangerous. BE SURE TO TELL YOUR DOCTOR if you are already taking any of the medications listed above. WARNINGS * It is important to tell your doctor if you have ever had any unusual or allergic reaction to this medicine or to any sulfa medication, including sulfonamide antibiotics, diuretics (water pills), or other oral antidiabetics. * It is also important to tell your doctor if you now have, or if you have ever had, kidney disease, liver disease, severe infection, or thyroid disease. * Avoid drinking alcoholic beverages while taking this medication (unless otherwise directed by your doctor). Some patients who take this medicine suffer nausea, vomiting, dizziness, stomach pain, pounding headache, sweating, and redness of the face and skin when they drink alcohol. Also, large amounts of alcohol can lower blood sugar to dangerously low levels. * Follow the special diet that your doctor gave you. This is an important part of controlling your blood sugar and is necessary in order for this medicine to work properly. * Be sure to tell your doctor or dentist that you are taking this medicine before having any kind of surgery or other medical or dental treatment. * Test for sugar in your urine as directed by your doctor. It is a convenient way to determine whether or not your diabetes is being controlled by this medicine. * Eat or drink something containing sugar right away if you experience any symptoms of low blood sugar (such as anxiety, chills, cold sweats, cool or pale skin, drowsiness, excessive hunger, headache, nausea, nervousness, rapid heartbeat, shakiness, or unusual tiredness or weakness). It is also important that your family and friends know the symptoms of low blood sugar and what to do if they observe any of these symptoms in you. * Check with your doctor as soon as possible--even if these symptoms are corrected by the sugar. The blood-sugar-lowering effects of this medicine can last for hours, and the symptoms may return during this period. Good sources of sugar are orange juice, corn syrup, honey, sugar cubes, and table sugar. You are at greatest risk of developing low blood sugar if you skip or delay meals, exercise more than usual, cannot eat because of nausea or vomiting, or drink large amounts of alcohol. * Be sure to tell your doctor if you are pregnant. Studies have not yet been completed in humans, but studies in animals have shown that this medicine can cause birth defects. Also, tell your doctor if you are breast-feeding an infant. Small amounts of glipizide pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. glipizide pagetitle glipizide 03168.TXT Copyright (C) 1993 Publications International, Ltd. glutethimide _________________________ BRAND NAMES (Manufacturers) Doriden (USV) glutethimide (various manufacturers) TYPE OF DRUG Sedative/hypnotic (sleeping aid) INGREDIENT glutethimide DOSAGE FORMS Tablets (250 mg and 500 mg) Capsules (500 mg) STORAGE Glutethimide tablets and capsules should be stored at room temperature in tightly closed containers. This medication is used for short-term treatment of insomnia. It is not clearly understood how glutethimide works to produce sleep, but it is a central nervous system depressant (a drug that slows the activity of the brain and spinal cord). This drug loses its effectiveness in producing and maintaining sleep after three to seven days of continuous treatment. TREATMENT You can take glutethimide tablets or capsules either on an empty stomach or, to avoid stomach irritation, with food or milk (unless your doctor directs you to do otherwise). The dose should be taken 15 to 30 minutes before bedtime. SIDE EFFECTS Minor. Drowsiness during the daytime; dizziness; a "hangover" feeling; headache; nausea; and vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down awhile; change positions slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision; clumsiness; confusion; convulsions; difficulty breathing; fever; hallucinations; muscle cramps; nightmares; skin rash; slurred speech; sore throat; trembling; unusual bleeding or bruising; or unusual weakness. INTERACTIONS Glutethimide interacts with a number of other medications. 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and other sleeping medications) or with tricyclic anti-depressants can lead to extreme drowsiness, and can be dangerous. 2. Glutethimide can decrease the blood levels and effectiveness of oral anti-coagulants (blood thinners, such as warfarin). BE SURE TO TELL YOUR DOCTOR if you are already taking any of the medications listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to glutethimide. * Before starting to take this medication, be sure to tell your doctor if you now have, or if you have ever had, glaucoma; heart arrhythmias; kidney disease; severe pain; peptic ulcers; enlarged prostate gland; porphyria; or blockage of the intestines or urinary tract. * If this medication makes you drowsy or dizzy, or blurs your vision, do not take part in any activity that requires alertness, such as driving a car. * This medication has the potential for abuse. Therefore, it should not be used in higher doses or for longer periods than recommended by your doctor. If you have been taking glutethimide for longer than several weeks, check with your doctor before discontinuing it. Stopping abruptly can lead to a withdrawal reaction. Your doctor may want to reduce the dosage gradually to prevent this reaction. * Be sure to tell your doctor if you are pregnant. Extensive studies in pregnant women using glutethimide have not yet been completed. However, it is known that large amounts of the drug taken during the last three months of pregnancy can cause the baby to become dependent on the medication, leading to withdrawal side effects at birth. Also, tell your doctor if you are breastfeeding an infant. Small amounts of glutethimide pass into breast milk and can cause extreme drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. glutethimidens t pagetitle glutethimide 03169.TXT Copyright (C) 1993 Publications International, Ltd. glyburide _________________________ BRAND NAMES (Manufacturers) Diabeta (Hoechst-Roussel) Micronase (Upjohn) TYPE OF DRUG Oral antidiabetic INGREDIENT glyburide DOSAGE FORM Tablets (1.25 mg, 2.5 mg, and 5 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Glyburide is used for the treatment of diabetes mellitus (sugar diabetes) that appears in adulthood and cannot be managed by control of diet alone. This type of diabetes is known as non-insulin-dependent diabetes (sometimes called maturity-onset or Type II diabetes). Glyburide lowers blood sugar levels by increasing the release of insulin from the pancreas. TREATMENT In order for glyburide to work correctly, it must be taken as directed by your doctor. To maintain a constant blood sugar level, it is best to take this medication at the same time(s) each day. It is therefore important to try not to miss any doses of this medication. If you do miss a dose, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Tell your doctor if you feel any side effects from missing a dose of this drug. It is important to note that diabetics who are taking oral antidiabetic medication may need to be switched to insulin if they develop diabetic coma, have a severe infection, are scheduled for major surgery, or become pregnant. SIDE EFFECTS Minor. Diarrhea, headache, heartburn, loss of appetite, nausea, vomiting, stomach pain, or stomach discomfort. The side effects from glyburide will most likely disappear during treatment, as your body adjusts to the medicine. Glyburide may increase your sensitivity to sunlight. It is therefore important to use caution during exposure to the sun. You may want to wear protective clothing and sunglasses. Use an effective sunscreen and avoid exposure to sun lamps. Major. If any side effects are persistent or particularly bothersome, it is important to notify your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about dark urine, fatigue, itching of the skin, light-colored stools, rash, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Glyburide interacts with a number of other medications. 1. Chloramphenicol, guanethidine, insulin, monoamine oxidase (MAO) inhibitors, oxyphenbutazone, oxytetracycline, phenylbutazone, probenecid, aspirin or other salicylates, and sulfonamide antibiotics, when combined with glyburide, can lower blood sugar levels--sometimes to dangerously low levels. 2. Thyroid hormones, dextrothyroxine, epinephrine, phenytoin, thiazide diuretics (water pills), and cortisone-like medications (such as dexamethasone, hydrocortisone, prednisone), combined with glyburide, can actually increase blood sugar levels. 3. Antidiabetic medications can increase the effects of warfarin, which can lead to bleeding complications. 4. Betablocking medications (atenolol, metoprolol, nadolol, pindolol, propranolol, and timolol), combined with glyburide, can result in either high or low blood sugar levels. Betablockers can also mask the symptoms of low blood sugar, which can be dangerous. BE SURE TO TELL YOUR DOCTOR if you are already taking any of the medications listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to medications, especially to glyburide or to any sulfa medication, including sulfonamide antibiotics, diuretics (water pills), or other oral antidiabetics. * Tell your doctor if you now have, or if you have ever had, kidney disease, liver disease, severe infection, or thyroid disease. * Follow the special diet that your doctor gave you. This is an important part of controlling your blood sugar and is necessary in order for this medicine to work properly. * Avoid drinking alcoholic beverages while taking this medication (unless otherwise directed by your doctor). Some patients who take this medicine suffer nausea, vomiting, dizziness, stomach pain, pounding headache, sweating, and redness of the face and skin when they drink alcohol. Also, large amounts of alcohol can lower blood sugar to dangerously low levels. * Be sure to tell your doctor or dentist that you are taking this medication before having any kind of surgery or other medical or dental treatment. * Test for sugar in your urine as directed by your doctor. It is a convenient way to determine whether or not your diabetes is being controlled by this medicine. * Eat or drink something containing sugar right away if you experience any symptoms of low blood sugar (such as anxiety, chills, cold sweats, cool or pale skin, drowsiness, excessive hunger, headache, nausea, nervousness, rapid heartbeat, shakiness, or unusual tiredness or weakness). It is also important that your family and friends know the symptoms of low blood sugar and what to do if they observe any of these symptoms in you. * Check with your doctor as soon as possible--even if these symptoms are corrected by the sugar. The blood-sugar-lowering effects of this medicine can last for hours, and the symptoms may return during this period. Good sources of sugar are orange juice, corn syrup, honey, sugar cubes, and table sugar. You are at greatest risk of developing low blood sugar if you skip or delay meals, exercise more than usual, cannot eat because of nausea or vomiting, or drink large amounts of alcohol. * Be sure to tell your doctor if you are pregnant. Studies have not yet been completed in humans, but studies in animals have shown that this medication can cause birth defects. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. glyburide pagetitle glyburide 03170.TXT Copyright (C) 1993 Publications International, Ltd. griseofulvin _________________________ BRAND NAMES (Manufacturers) Fulvicin P/G (Schering) Fulvicin V/F (Schering) Grifulvin V (Ortho Derm) Grisactin (Wyeth-Ayerst) Grisactin Ultra (Wyeth-Ayerst) griseofulvin (various manufacturers) Gris-PEG (Sandoz) TYPE OF DRUG Antifungal INGREDIENT griseofulvin DOSAGE FORMS Tablets (125 mg, 165 mg, 250 mg, 330 mg, and 500 mg) Capsules (125 mg and 250 mg) Oral suspension (125 mg per 5-ml teaspoonful) STORAGE Griseofulvin tablets, capsules, and oral suspension should be stored at room temperature in tightly closed containers. This medication should never be frozen. This medication is used to treat certain fungal infections of the skin and nails. Griseofulvin prevents the multiplication of susceptible fungi. It also enters the cells of skin, hair, and nails, and protects them from fungal invasion. TREATMENT In order to avoid stomach irritation, you can take griseofulvin with food or milk. The oral suspension form of this medication should be shaken well, just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to evenly distribute the ingredients and equalize the doses. Each dose should then be measured carefully with a specially designed, 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. It is important to continue to take this medication for the entire time prescribed by your doctor (perhaps six months or more), even if the symptoms disappear before the end of that period. If you stop taking this drug too soon, resistant fungi are given a chance to continue growing, and your infection could recur. SIDE EFFECTS Minor. Diarrhea, dizziness, fatigue, headache, insomnia, nausea, stomach upset, and vomiting. These side effects should disappear in several days, as your body adjusts to the medication. If you feel dizzy, sit or lie down awhile; get up slowly. This medication can increase your sensitivity to sunlight. You should therefore avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, itching, skin rash, sore throat, or a tingling of the hands or feet. INTERACTIONS Griseofulvin interacts with other types of medication. 1. It can increase the effects of alcohol, resulting in flushing and an increased heart rate. 2. Barbiturates can cause a decrease in the effectiveness of griseofulvin. 3. Griseofulvin can decrease the effectiveness of oral anti-coagulants (blood thinners, such as warfarin). Before starting to take griseofulvin, BE SURE TO TELL YOUR DOCTOR if you are already taking any of these other medications. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to griseofulvin, penicillins, cephalosporin antibiotics, or penicillamine. * Before starting to take griseofulvin, be sure to tell your doctor if you now have, or if you have ever had, liver disease, porphyria, or systemic lupus erythematosus (SLE). * If this drug makes you dizzy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Observe good hygiene to control the source of infection and to prevent reinfection. * Concurrent use of an appropriate topical antifungal medication may be necessary to help clear the infection. * Be sure to tell your doctor if you are pregnant. Extensive studies in pregnant women have not yet been completed, but birth defects have been reported in animals whose mothers received large doses of griseofulvin during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether or not griseofulvin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. griseofulvinn, d pagetitle griseofulvin 03171.TXT Copyright (C) 1993 Publications International, Ltd. guanadrel _________________________ BRAND NAME (Manufacturer) Hylorel (Pennwalt) TYPE OF DRUG Anti-hypertensive INGREDIENT guanadrel as the sulfate salt DOSAGE FORM Tablets (10 mg and 25 mg) STORAGE Guanadrel tablets should be stored at room temperature, in a tightly closed container. Guanadrel is used to control high blood pressure. It works by blocking the action of the body chemicals responsible for increasing blood pressure. TREATMENT Guanadrel can be taken either on an empty stomach or, to avoid stomach irritation, with food or milk (as directed by your doctor). Try to take your doses at the same times each day, in order to become accustomed to taking this medication. This medication does not cure high blood pressure, but it will help to control the condition. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation; diarrhea; dizziness; drowsiness; dry throat or mouth; fatigue; gas; headache; loss of appetite; nausea; sleep disorders; stomach upset; and weight gain or loss. These side effects should disappear in several weeks, as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (bran, salads, fresh fruits and vegetables, and whole-grain breads), and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down awhile; change positions slowly, and be careful on stairs. To help relieve mouth dryness, chew sugarless gum, or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about backache; blurred vision; chest pain; confusion; coughing; depression; fainting; impotence; increased urination; joint pain; leg cramps; mental disorders; mouth sores; palpitations; rapid weight gain (three to five pounds within a week); shortness of breath; or tingling sensations. INTERACTIONS Guanadrel interacts with several other types of drugs. 1. Concurrent use of guanadrel and alcohol can lead to fainting and extreme drowsiness. 2. Amphetamines, diet preparations, ephedrine, methylphenidate, phenothiazine tranquilizers, phenylpropanolamine, and tricyclic anti-depressants can decrease the beneficial effects of guanadrel. 3. Concurrent use of guanadrel with monoamine oxidase (MAO) inhibitors can lead to serious side effects. At least one week should separate doses of these two types of medications. TELL YOUR DOCTOR if you are already taking any of the medications listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to guanadrel. * Before starting to take this medication, be sure to tell your doctor if you now have, or if you have ever had, asthma, fevers, heart or blood vessel disease, peptic ulcers, pheochromocytoma, or a slowed heartbeat. * If this drug makes you dizzy or drowsy, or blurs your vision, avoid taking part in activities that require alertness. * Before having any surgery or other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Check with your doctor or pharmacist before taking any over-the-counter (non-prescription) asthma, allergy, cough, cold, diet, or sinus preparation. Some of these products can decrease the effectiveness of guanadrel. * To prevent feeling faint, you should avoid drinking alcoholic beverages. You should also avoid standing for prolonged periods, excessive exercising, and exposure to hot showers and saunas. * Be sure to tell your doctor if you are pregnant. Although guanadrel appears to be safe during pregnancy, extensive studies in humans have not yet been completed. Also, tell your doctor if you are breastfeeding an infant. It is not known whether or not guanadrel passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. guanadrel pagetitle guanadrel 03172.TXT Copyright (C) 1993 Publications International, Ltd. guanabenz _________________________ BRAND NAME (Manufacturer) Wytensin (Wyeth-Ayerst) TYPE OF DRUG Antihypertensive INGREDIENT guanabenz as the acetate salt DOSAGE FORM Tablets (4 mg and 8 mg) STORAGE Guanabenz should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to control high blood pressure. It works by decreasing the release of chemicals in the brain that are responsible for increasing blood pressure. TREATMENT Guanabenz can be taken either on an empty stomach or, to avoid stomach irritation, with food or milk (as directed by your doctor). Try to take the doses at the same times each day, so that you become accustomed to taking this medication. Your doctor may want you to take the last dose of the day at bedtime, in order to control blood pressure at night and to reduce daytime drowsiness. Guanabenz does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss more than two consecutive doses, contact your doctor as soon as possible. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, dry mouth, headache, nasal congestion, nausea, sleep disturbances, stomach upset, taste disorders, vomiting, and weakness. These side effects should disappear in several weeks, as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (bran, salads, fresh fruits and vegetables, and whole-grain breads), and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down awhile; get up from a sitting or lying position slowly, and be careful on stairs. To help relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, blurred vision, chest pain, depression, disturbances in sexual function, enlarged or painful breasts (in both sexes), increased urination, itching, loss of coordination, muscle aches, palpitations, rapid weight gain (three to five pounds within a week), shortness of breath, or skin rash. INTERACTIONS Concurrent use of guanabenz with central nervous system depressants (drugs that slow the activity of the brain and spinal cord), such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medication, or with tricyclic antidepressants can lead to extreme drowsiness. BE SURE TO TELL YOUR DOCTOR if you are already taking any of these types of medication. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to guanabenz. * Before starting to take this medication, be sure to tell your doctor if you now have, or if you have ever had, heart or blood vessel disease, kidney disease, or liver disease. * If this medication makes you dizzy or drowsy, or blurs your vision, avoid taking part in activities that require alertness. * Before having any surgery or other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Do not stop taking guanabenz unless you first check with your doctor. If this drug is stopped abruptly, you may experience nervousness, agitation, headache, and a rise in blood pressure. Your doctor may therefore want to decrease your dosage. * Check with your doctor or pharmacist before taking any over-the-counter (nonprescription) asthma, allergy, cough, cold, diet, or sinus preparations. Some of these products can reduce the effectiveness of guanabenz. * Be sure to tell your doctor if you are pregnant. Although guanabenz appears to be safe during pregnancy, extensive studies in humans have not yet been completed. Studies on birth defects in animals have produced conflicting results. Also, tell your doctor if you are breast-feeding an infant. It is not known if guanabenz passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. guanabenz pagetitle guanabenz 03173.TXT Copyright (C) 1993 Publications International, Ltd. guanethidine _________________________ BRAND NAME (Manufacturer) Ismelin (Ciba) TYPE OF DRUG Anti-hypertensive INGREDIENT guanethidine as the sulfate salt DOSAGE FORM Tablets (10 mg and 25 mg) STORAGE Guanethidine should be stored at room temperature, in a tightly closed container. Guanethidine is used to control high blood pressure. It works by blocking the action of the chemicals responsible for increasing blood pressure. TREATMENT Guanethidine can be taken either on an empty stomach or, to avoid stomach irritation, with food or milk (as directed by your doctor). Try to take your doses at the same times each day, in order to become accustomed to taking this medication. This medication does not cure high blood pressure, but it will help to control the condition, as long as you continue to take it. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea; dizziness; dry mouth; fatigue; nasal congestion; nausea; vomiting; weakness; and weight gain. These side effects should disappear in several weeks, as your body adjusts to the medication. If you feel dizzy, sit or lie down awhile; change positions slowly, and be careful on stairs. To help relieve mouth dryness, chew sugarless gum, or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision; chest pain; decreased sexual ability; depression; drooping eyelids; hair loss; increased urination; itching; muscle pain or tremors; rapid weight gain (three to five pounds within a week); skin rash; shortness of breath; or swollen or tender glands. INTERACTIONS Guanethidine interacts with several other types of drugs. 1. Concurrent use of guanethidine and alcohol can lead to fainting or extreme drowsiness. 2. Amphetamines, appetite suppressants, ephedrine, methylphenidate, phenothiazine tranquilizers, phenylpropanolamine, and tricyclic anti-depressants can decrease the beneficial effects of guanethidine. 3. Barbiturates, methotrimeprazine, narcotics, fenfluramine, and reserpine can increase the blood-pressure-lowering effects of guanethidine, which can be dangerous. 4. The dosage of oral anti-diabetic medications may need to be adjusted when guanethidine is started. 5. Concurrent use of guanethidine with monoamine oxidase (MAO) inhibitors can lead to serious side effects. At least one week should separate doses of these two types of medication. BE SURE TO TELL YOUR DOCTOR if you are already taking any of the medications listed above in combination with guanethidine. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to guanethidine. * Before starting to take this medication, be sure to tell your doctor if you now have, or if you have ever had, asthma; diabetes mellitus; fever; heart or blood vessel disease; kidney disease; liver disease; peptic ulcers; pheochromocytoma; or a slowed heart rate. * If this medication makes you dizzy or drowsy, avoid taking part in activities that require alertness, such as driving a car or operating potentially dangerous equipment. * To prevent fainting while you are taking guanethidine, you should avoid drinking alcoholic beverages. You should also avoid standing for prolonged periods, excessive exercise, and exposure to hot showers and saunas. * Before having any surgery or other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Check with your doctor or pharmacist before taking any over-the-counter (non-prescription) asthma, allergy, cough, cold, diet, or sinus preparation. Some of these products can reduce the effectiveness of guanethidine. * Guanethidine 10 mg tablets contain F.D. & C. Yellow Dye No. 5 (tartrazine), which can cause allergic-type symptoms (fainting, shortness of breath, or rash) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Although guanethidine appears to be safe during pregnancy, extensive studies in humans have not yet been completed. Also, tell your doctor if you are breastfeeding an infant. It is not known whether or not guanethidine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. guanethidinerial pagetitle guanethidine 03174.TXT Copyright (C) 1993 Publications International, Ltd. halazepam _________________________ BRAND NAME (Manufacturer) Paxipam (Schering) TYPE OF DRUG Sedative/hypnotic (anti-anxiety medication) INGREDIENT halazepam DOSAGE FORM Tablets (20 mg and 4O mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Halazepam is prescribed to treat symptoms of anxiety. It is not clear exactly how this medicine works, but it may relieve anxiety by acting as a depressant of the central nervous system. Halazepam is currently used by many people to relieve nervousness. It is effective for this purpose for short periods, but it is important to try to remove the cause of the anxiety as well. TREATMENT This medication should be taken exactly as directed by your doctor. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this medication with a dose of antacids, since they may retard its absorption from the gastrointestinal tract. If you are taking this medication regularly and you miss a dose, take the missed dose immediately, if you remember within an hour. If more than an hour has passed, skip the dose you missed and wait for the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Bitter taste in mouth; constipation; depression; diarrhea; dizziness; drowsiness (after a night's sleep); dry mouth; excess saliva; fatigue; flushing; headache; heartburn; loss of appetite; nausea; nervousness; sweating; and vomiting. As your body adjusts to the medicine, these effects should disappear. Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy, sit or lie down awhile. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision; chest pain; severe depression; difficulty urinating; fainting; falling; fever; joint pain; hallucinations; mouth sores; nightmares; palpitations; rash; shortness of breath; slurred speech; sore throat; uncoordinated movements; unusual excitement; unusual tiredness; or yellowing of the eyes or skin. INTERACTIONS Halazepam interacts with several other medications. 1. To prevent over-sedation, it should not be taken with alcohol, other sedative drugs, central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, medicines for seizures, phenothiazine tranquilizers), or with anti-depressants. 2. This medication may decrease the effectiveness of carbamazepine, levodopa, and oral anti-coagulants, and may increase the effects of phenytoin. 3. Disulfiram, isoniazid, and cimetidine can increase the blood levels of halazepam, which can lead to toxic effects. 4. Concurrent use of rifampin may decrease the effectiveness of halazepam. If you are already taking any of the medications listed above, CONSULT YOUR DOCTOR about their use. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to halazepam or any other benzodiazepine tranquilizers (such as alprazolam, chlordiazepoxide, clorazepate, diazepam, flurazepam, lorazepam, oxazepam, prazepam, temazepam, or triazolam). * Tell your doctor if you now have, or if you have ever had, liver or kidney disease, epilepsy, lung disease, myasthenia gravis, porphyria, mental depression, or mental illness. * This medicine can cause drowsiness. You should therefore avoid tasks that require alertness, such as driving a car or using potentially dangerous machinery. * This medication has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage without first consulting your doctor. It is also important not to stop taking this drug suddenly if you have been taking it in large amounts, or if you have used it for several weeks. Your doctor may want to reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects can develop. * Be sure to tell your doctor if you are pregnant. This type of medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may result in addiction of the fetus, leading to withdrawal side effects in the newborn. Also, use of this medicine during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the infant. Tell your doctor if you are breastfeeding an infant. This medicine can pass into breast milk and cause excessive drowsiness, slowed heartbeat, and breathing difficulties in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. halazepam pagetitle halazepam 03175.TXT Copyright (C) 1993 Publications International, Ltd. halcinonide (topical) _________________________ BRAND NAMES (Manufacturers) Halog (Westwood Squibb) Halog-E (Westwood Squibb) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT halcinonide DOSAGE FORMS Ointment (0.025% and 0.1%) Cream (0.025% and 0.1%) Solution (0.1%) STORAGE Halcinonide ointment, cream, and solution should be stored at room temperature in tightly closed containers. This medication should never be frozen. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as fluid balance, temperature, and reactions to inflammation). Halcinonide belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve the skin inflammation (redness, swelling, itching, and discomfort) associated with conditions such as dermatitis, eczema, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT Before applying this medication, wash your hands. Then, unless your doctor gives you different instructions, gently wash the area of the skin where the medication is to be applied. With a clean towel, pat the area almost dry; it should be slightly damp when you put the medicine on. Apply a small amount of the medication to the affected area in a thin layer. Do not bandage the area unless your doctor tells you to do so. If you are to apply an occlusive dressing (like kitchen plastic wrap), be sure you understand the instructions. If you miss a dose of this drug, apply the dose as soon as possible, unless it is time for the next application. In that case, do not apply the missed dose, just return to your regular schedule. Do not double the dose. SIDE EFFECTS Minor. Acne, burning sensation, irritation of the affected area, itching, rash, and skin dryness. If the affected area is extremely dry or scaling, the skin may be moistened before applying the medication by soaking in water or by applying water with a clean cloth. The ointment form is probably better for dry skin. A mild, temporary stinging sensation may occur after this medication is applied. If this persists, contact your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, loss of skin color, secondary infection in the area being treated, or thinning of the skin with easy bruising. INTERACTIONS This medication does not interact with any other medications, as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to halcinonide or any other adrenocorticosteroids (such as amcinonide, betamethasone, cortisone, desonide, desoximetasone, dexamethasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, fluprednisolone, flurandrenolide, hydrocortisone, methylprednisolone, paramethasone, prednisolone, prednisone, or triamcinolone). * Tell your doctor if you now have, or if you have ever had, blood vessel disease, chicken pox, diabetes mellitus, fungal infection, peptic ulcers, shingles, tuberculosis, tuberculosis of the skin, vaccinia, or any other type of infection, especially at the site currently being treated. * If irritation develops while using this drug, immediately discontinue its use, and notify your doctor. * This product is not for use in the eyes or mucous membranes. Exposure of this medication to the eye may result in ocular (to the eye) side effects. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of this drug is increased if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctors instructions exactly; do not leave the wrap in place longer than specified. * If you are using this medication on a child's diaper area, do not put tight-fitting diapers or plastic pants on the child. This may lead to increased systemic absorption of the drug and a possible increase in side effects. * Be sure to tell your doctor if you are pregnant. If large amounts of this drug are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Although studies in humans have not yet been completed, birth defects have been observed in the offspring of animals who were given large oral doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the skin, small amounts of halcinonide pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. halcinonide (topical) pagetitle halcinonide (topical) 03176.TXT Copyright (C) 1993 Publications International, Ltd. haloperidol _________________________ BRAND NAMES (Manufacturers) Haldol (McNeil CPC) haloperidol (various manufacturers) TYPE OF DRUG Antipsychotic INGREDIENT haloperidol DOSAGE FORMS Tablets (0.5 mg, 1 mg, 2 mg, 5 mg, 10 mg, and 20 mg) Oral concentrate (2 mg per ml) STORAGE Haloperidol tablets and oral concentrate should be stored at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. Haloperidol is prescribed to treat the symptoms of certain types of mental illness, such as the emotional symptoms of psychosis, the manic phase of manic-depressive illness, Tourette's syndrome, and severe behavioral problems in children. This drug is thought to relieve symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. TREATMENT To avoid stomach irritation, you can take haloperidol tablets with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). The oral form of this drug should be measured carefully with the dropper provided, then added to four ounces (1/2 cup) or more of water, milk, or a cola-free, caffeine-free carbonated beverage or to applesauce or pudding immediately prior to administration. To prevent possible loss of effectiveness, haloperidol should not be diluted with tea, coffee, caffeine-containing beverages, or apple juice. If you miss a dose of this medication and remember within six hours, take the missed dose as soon as then return to your regular schedule. If more than six hours have passed, however, skip the missed dose and return to your regular dosing schedule. Do not double the next dose unless your doctor directs you to do so. The full effects of haloperidol may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased or increased sweating, diarrhea, dizziness, drooling, drowsiness, dry mouth, fatigue, headache, heartburn, jitteriness, loss of appetite, menstrual irregularities, nausea, restlessness, sleep disorders, vomiting, or weakness. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about aching joints and muscles; breast enlargement (in both sexes); chest pain; confusion; convulsions; difficulty in breathing or swallowing; difficulty in urinating; fainting; fever; fluid retention; hair loss; hallucinations; impotence; involuntary movements of the mouth, face, neck, tongue, or limbs; mouth sores; palpitations; skin darkening; skin rash; sore throat; tremors; unusual bleeding or bruising; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Haloperidol interacts with several other types of medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (such as antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications) or with tricyclic antidepressants. 2. This drug can lessen the effectiveness of guanethidine and anticonvulsants (antiseizure medications). 3. Haloperidol may increase the side effects of epinephrine, lithium, and methyldopa. Before starting to take haloperidol, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to haloperidol or to any other drugs used to treat mental illness. * Tell your doctor if you now have or if you have ever had any blood disorders, blockage of the urinary tract, drug-induced depression, enlarged prostate gland, epilepsy, glaucoma, heart or circulatory disease, kidney disease, liver disease, lung disease, mental depression, Parkinson's disease, peptic ulcers, or thyroid disease. * Avoid drinking alcoholic beverages while taking this medication in order to prevent oversedation. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * This medication can decrease sweating and heat release from the body. You should, therefore, avoid getting overheated by strenuous exercise in hot weather and should avoid taking hot baths, showers, and saunas. * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The elderly may be at increased risk for side effects. Watch closely for side effects or other changes, especially in mental status after taking haloperidol and report them to your doctor. * If you are planning to have a myelogram or any other procedure in which dye is injected into the spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral concentrate form of this medication on your skin or clothing; it can cause redness and irritation of the skin. * While taking haloperidol, do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems unless you first check with your doctor. The combination of these medications may cause high blood pressure. * Haloperidol has the potential to cause a permanent movement disorder called tardive dyskinesia. It is important to discuss this with your doctor and to report any unusual or uncontrolled body movements. * Some haloperidol formulations contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, shortness of breath, fainting) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. A few cases of limb malformations have occurred in infants whose mothers had received haloperidol in combination with several other drugs during the first three months of pregnancy. Whether haloperidol was the cause is still not known. Also, tell your doctor if you are breast-feeding an infant. Small amounts of haloperidol pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Haldol 0317601.scf haloperidol logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials #pagetitle haloperidol 03177.TXT Copyright (C) 1993 Publications International, Ltd. hydralazine _________________________ BRAND NAMES (Manufacturers) Alazine (Major) Apresoline (Ciba) hydralazine hydrochloride (various manufacturers) TYPE OF DRUG Antihypertensive INGREDIENT hydralazine DOSAGE FORM Tablets (10 mg, 25 mg, 50 mg, and 100 mg) STORAGE Hydralazine tablets should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat high blood pressure or heart failure. Hydralazine is a vasodilator that directly relaxes the muscle of the blood vessels and allows the blood to flow at a lower force, which causes a lowering of blood pressure. TREATMENT In order to avoid stomach irritation while you are taking this medication, you can take your dose of hydralazine with food or with a glass of water or milk. To become accustomed to taking this medication, try to take it at the same time(s) each day. It may take up to two weeks before the full effects of this medication are observed. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Hydralazine does not cure high blood pressure, but it will help to control the condition as long as you continue to take the medication. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, flushing, headache, light-headedness, loss of appetite, muscle cramps, nasal congestion, nausea, or vomiting. These minor side effects should disappear as your body adjusts to therapy with this medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, chest pain, confusion, cramping, depression, difficulty in urinating, fever, itching, numbness or tingling in the fingers or toes, palpitations, rapid weight gain (three to five pounds within a week), rash, shortness of breath, sore throat, tenderness in the joints and muscles, tiredness, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Hydralazine interacts with several other types of drugs: 1. The combination of alcohol and hydralazine can lead to dizziness and fainting. You should, therefore, avoid drinking alcoholic beverages while taking this medication. 2. Used within 14 days of a monoamine oxidase (MAO) inhibitor, hydralazine can cause severe reactions. Before you start to take hydralazine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially an MAO inhibitor. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to hydralazine. * Tell your doctor if you have ever had angina, heart disease, stroke, a heart attack, or kidney disease. * To avoid dizziness or fainting, try not to stand for long periods of time, and avoid drinking alcohol. You should also try not to get overheated (avoid exercising strenuously in hot weather and avoid taking hot baths, showers, and saunas). * If this drug makes you dizzy or drowsy, avoid taking part in any activities that require alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Do not take any over-the-counter (nonprescription) allergy, asthma, sinus, cough, cold, or diet products unless you first consult your doctor or pharmacist. The combination of these medications with hydralazine may cause an increase in blood pressure. * Some hydralazine formulations contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, shortness of breath, fainting) in certain susceptible individuals. * Do not stop taking this medication until you check with your doctor. If this drug is stopped abruptly, you could experience a sudden rise in blood pressure and other complications. Your doctor may, therefore, want to decrease your dosage gradually. * Be sure to tell your doctor if you are pregnant. Although studies in humans have not been conducted, hydralazine crosses the placenta, and studies have shown that it causes birth defects in the offspring of animals that received large doses of it during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether hydralazine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydralazine pagetitle hydralazine 03178.TXT &Copyright (C) 1993 Publications International, Ltd. hydralazine, hydrochlorothiazide, and reserpine combination _________________________ BRAND NAMES (Manufacturers) Cam-ap-es (Camall) Cherapas (Kay) H-H-R (Geneva Generics) Ser-A-Gen (Goldline) Seralazide (Lannett) Ser-Ap-Es (Ciba) Serpazide (Major) Tri-Hydroserpine (Rugby) Unipres (Solvay) TYPE OF DRUG Antihypertensive INGREDIENTS hydralazine, hydrochlorothiazide, and reserpine DOSAGE FORM Tablets (25 mg hydralazine, 15 mg hydrochlorothiazide, and 0.1 mg reserpine) STORAGE These tablets should be stored at room temperature in a tightly closed, light-resistant container. This drug is used to treat high blood pressure. Hydralazine is a vasodilator; it relaxes the muscles of the blood vessels, resulting in a lowering of blood pressure. Hydrochlorothiazide is a diuretic (water pill), which reduces body fluid accumulation by increasing the elimination of salt and water through the kidneys. Reserpine acts by depleting the body of certain chemicals that are responsible for maintaining high blood pressure. TREATMENT In order to avoid stomach irritation, you can take hydralazine, hydrochlorothiazide, and reserpine combination with food or with a full glass of water or milk. To become accustomed to taking this medication, try to take it at the same time(s) each day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Hydralazine, hydrochlorothiazide, and reserpine combination does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. The effects of this medication may not become apparent for up to two weeks after you start to take it. SIDE EFFECTS Minor. Abdominal pain, constipation, decrease in sexual desire, diarrhea, dizziness, flushing, loss of appetite, nasal congestion, or weight gain. These side effects should disappear as your body adjusts to the medication. This medication can cause an increase in sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety; blurred vision; breast enlargement (in both sexes); chest pain; depression; difficulty in urinating; drowsiness; dry mouth; fainting; fatigue; fever; headaches; impotence; itching; joint pain; mood changes; muscle pain or spasms; nausea; nervousness; nightmares; palpitations; rapid weight gain (three to five pounds within a week); rash; shortness of breath; sore throat; swelling of the feet, ankles, or lower legs; thirst; tingling in the fingers or toes; tremors; unusual bleeding or bruising; vomiting; weakness; or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of it with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. The use of a monoamine oxidase (MAO) inhibitor within 14 days of this medication can lead to a severe reaction. 3. Tricyclic antidepressants can decrease the blood-pressure-lowering effects of reserpine. Reserpine can also decrease the effectiveness of levodopa and increase side effects (to the heart) of digoxin and quinidine. 4. Hydrochlorothiazide can decrease the effectiveness of warfarin, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 5. Fenfluramine may increase the blood-pressure-lowering effects of hydrochlorothiazide (which can be dangerous). 6. Indomethacin may decrease the blood-pressure-lowering effects of hydrochlorothiazide, thereby counteracting the desired effects. 7. This medication should be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications) because these medications can decrease the absorption of hydrochlorothiazide from the gastrointestinal tract. 8. Hydrochlorothiazide may increase the side effects of amphotericin B, calcium, adrenocorticosteroids (cortisone-like drugs), digitalis, digoxin, lithium, and vitamin D. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to hydralazine, reserpine, or hydrochlorothiazide, or to any other sulfa drugs (other diuretics, oral antidiabetic medicines, or sulfonamide antibiotics). * Before starting to take this medication, be sure to tell your doctor if you have ever had anuria (decreased urination), blood disorders, chest pain, diabetes mellitus, epilepsy, electroshock therapy, kidney disease, heart disease, liver disease, depression, gallstones or gallbladder disease, Parkinson's disease, peptic ulcers, stroke, systemic lupus erythematosus, or ulcerative colitis. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, shortness of breath, fainting) in certain susceptible individuals. * A doctor does not usually prescribe this drug or other "fixed-dose" products as the first choice in the treatment of high blood pressure. Generally, the patient first receives each ingredient singly. If the response is adequate to the fixed dose contained in this product, it can then be substituted. An advantage of a combination product is increased convenience. * This drug can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, CONTACT YOUR DOCTOR. To help prevent this problem, your doctor may want to have blood tests performed to monitor your potassium levels. To avoid potassium loss, take this product with a glass of fresh or frozen orange or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, until you discuss it with your doctor. Too much potassium can also be dangerous. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * Hydrochlorothiazide can raise blood sugar levels in diabetic patients. Blood sugar should, therefore, be monitored carefully (using blood or urine tests) when this medication is being taken. * In order to prevent dizziness or fainting while taking this drug, try not to stand for long periods of time. You should also avoid drinking alcohol, and avoid becoming overheated by exercising strenuously in hot weather or by taking hot baths, showers, and saunas. * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Before taking any over-the-counter (nonprescription) allergy, asthma, sinus, cough, cold, or diet products, check with your doctor or pharmacist. Some of these products can cause an increase in blood pressure. * Do not stop taking this drug until you first check with your doctor. If this drug is stopped abruptly, you may experience a sudden rise in blood pressure. Your doctor may, therefore, want to decrease your dosage gradually. * The elderly may be at increased risk for side effects, especially depression, confusion, or other mental changes. Report any such changes to your doctor. * Tell your doctor if you are pregnant. Birth defects have been observed in the offspring of animals that received large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydralazine, hydrochlorothiazide, and reserpine com...ation 'pagetitle hydralazine, hydrochlorothiazide, and reserpine combination 03179.TXT Copyright (C) 1993 Publications International, Ltd. hydrochlorothiazide _________________________ BRAND NAMES (Manufacturers) Diaqua (Hauck) Esidrix (Ciba) hydrochlorothiazide (various manufacturers) Hydro-Chlor (Vortech) HydroDIURIL (Merck Sharp & Dohme) Hydromal (Hauck) Hydro-T (Major) Hydro-Z 50 (Mayrand) Hydrozide-50 (T.E. Williams) Mictrin (EconoMed) Oretic (Abbott) Thiuretic (Warner-Chilcott) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT hydrochlorothiazide DOSAGE FORMS Tablets (25 mg, 50 mg, and 100 mg) Oral solution (50 mg per 5-ml spoonful) Intensol oral solution (100 mg per ml) STORAGE This medication should be stored at room temperature in a tightly closed container. Hydrochlorothiazide is prescribed to treat high blood pressure (hypertension). It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. This medication reduces body fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To decrease stomach irritation, you can take this medication with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Each dose of the oral solution should be measured carefully with the dropper provided (Intensol solution) or a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. This drug does not cure high blood pressure. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or upset stomach. As your body adjusts to the medication, these side effects should disappear. This drug can cause increased sensitivity to sunlight. Therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, itching, joint pain, mood changes, muscle pain or spasms, nausea, palpitations, skin rash, sore throat, tingling in the fingers or toes, vomiting, or yellowing of the eyes or skin. INTERACTIONS Hydrochlorothiazide interacts with several other types of medications: 1. It can decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 2. Fenfluramine can increase the blood-pressure-lowering effects of hydrochlorothiazide (which can be dangerous). 3. Indomethacin can decrease the blood-pressure-lowering effects of hydrochlorothiazide, thereby counteracting the desired effects. 4. Cholestyramine and colestipol decrease the absorption of this medication from the gastrointestinal tract. Hydrochlorothiazide should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications). 5. Hydrochlorothiazide may increase the side effects of amphotericin B, calcium, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, or prednisolone), digoxin, digitalis, lithium, and vitamin D. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to hydrochlorothiazide or other sulfa medications, including other diuretics, oral antidiabetic medications, and sulfonamide antibiotics. * Be sure to tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreatic disease, or systemic lupus erythematosus. * Hydrochlorothiazide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, it is important that yiu call your doctor. To help avoid potassium loss, take this medication with a glass of fresh or frozen orange or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. Your doctor may want you to have blood tests performed periodically in order to monitor your potassium levels while you are taking this drug. * Limit your intake of alcoholic beverages while taking this medication to prevent dizziness and light-headedness. * Becoming overheated can be hazardous while you are taking this medication. Avoid strenuous exercise in hot weather and do not take hot baths, showers, or saunas. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, cough, cold, or sinus problems unless your doctor directs you to do so. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Therefore, blood sugar should be carefully monitored by blood or urine tests when this medication is being taken. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant. Hydrochlorothiazide can cross the placenta and may cause adverse effects on the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of this medication can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Esidrix 25 mg,Esidrix 50 mg,HydroDIURIL 0317901.scf,0317902.scf,0317903.scf hydrochlorothiazide logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField V!.!S! Additional Materials en hy! |!pagetitle hydrochlorothiazide 03180.TXT @#-#Copyright (C) 1993 Publications International, Ltd. hydrocortisone (systemic) _________________________ BRAND NAMES (Manufacturers) Cortef (Upjohn) hydrocortisone (various manufacturers) Hydrocortone (Merck Sharp & Dohme) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT hydrocortisone (cortisol) DOSAGE FORMS Tablets (5 mg, 10 mg, and 20 mg) Oral suspension (10 mg per 5-ml spoonful) STORAGE Store at room temperature in a tightly closed container. Never freeze this medication. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Hydrocortisone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to treat a variety of disorders, including endocrine (hormonal) and rheumatic disorders; asthma; blood diseases; certain cancers; eye disorders; gastrointestinal disturbances, such as ulcerative colitis; respiratory diseases; and inflammations such as arthritis, dermatitis, poison ivy, and other allergic conditions. How this medication acts to relieve these disorders is not completely understood. TREATMENT In order to prevent stomach irritation, you can take hydrocortisone with food or milk. If you are taking only one dose of this medication each day, try to take it before 9:00 a.m. This mimics the normal hormonal production in your body. The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. It is important to try not to miss any doses of hydrocortisone. However, if you do miss a dose of this medication, follow these guidelines: 1. If you are taking ihydrocorizone more than once a day, take the missed dose as soon as possible, then return to your regular schedule. If it is already time for the next dose, double the dose. 2. If you are taking this medication once a day, take the dose you missed as soon as possible, unless you don't remember until the next day. In that case, do not take the missed dose at all; just follow your regular schedule. Do not double the next dose. 3. If you are taking this drug every other day, take the missed dose as soon as you remember. If you missed the scheduled dose by a whole day, take it when you remember and then skip a day before you take the next dose. Do not double the dose. If you miss more than one dose of hydrocortisone, CONTACT YOUR DOCTOR. SIDE EFFECTS Minor. Dizziness, false sense of well-being, increased appetite, increased sweating, indigestion, menstrual irregularities, nausea, reddening and swelling of the skin on the face, restlessness, sleep disorders, or weight gain. These side effects should disappear as your body adjusts to the medication. To help avoid potassium loss while using this drug, take your dose with a glass of fresh or frozen orange juice, or eat a banana each day. The use of a salt substitute also helps to prevent potassium loss. Check with your doctor before changing your diet or using a salt substitute. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal (area around and above the waist) enlargement; acne or other skin problems; back or rib pain; bloody or black, tarry stools; blurred vision; convulsions; eye pain; fever and sore throat; growth impairment (in children); headaches; slow healing of wounds; increased thirst and urination; mental depression; mood changes; muscle wasting; muscle weakness; nightmares; rapid weight gain (three to five pounds within a week); rash; red lines across the abdomen; severe abdominal pain; shortness of breath; thinning of the skin; unusual bleeding or bruising; or unusual weakness. INTERACTIONS The systemic form of hydrocortisone adrenocorticosteroid hormone interacts with several other types of medications: 1. Alcohol, aspirin, and anti-inflammatory medications (such as diclofenac, diflunisal, flurbiprofen, ibuprofen, indomethacin, ketoprofen, mefenamic acid, meclofenamate, naproxen, piroxicam, sulindac, and tolmetin) aggravate the stomach problems that are common with use of this medication. 2. The dosage of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic drugs, or insulin may need to be adjusted when this medication is started or stopped. 3. The loss of potassium caused by hydrocortisone can lead to serious side effects in individuals taking digoxin. Also, thiazide diuretics (water pills) can increase the potassium loss caused by hydrocortisone. 4. Phenobarbital, phenytoin, rifampin, and ephedrine can increase the elimination of hydrocortisone from the body, thereby decreasing its effectiveness. 5. Oral contraceptives (birth control pills) and estrogen-containing drugs may decrease the elimination of this drug from the body, which can lead to an increase in side effects. 6. Hydrocortisone can increase the elimination of aspirin and isoniazid from the body, thereby decreasing the effectiveness of these two medications. 7. Cholestyramine and colestipol can chemically bind this medication in the stomach and gastrointestinal tract, preventing its absorption and decreasing its effectiveness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to hydrocortisone or other adrenocorticosteroids (such as betamethasone, cortisone, dexamethasone, fluocinolone, methylprednisolone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had bone disease, diabetes mellitus, emotional instability, glaucoma, fungal infections, heart disease, high blood pressure, high cholesterol levels, myasthenia gravis, peptic ulcers, osteoporosis, thyroid disease, tuberculosis, ulcerative colitis, kidney disease, or liver disease. * If you are using this medication for longer than a week, you may need to receive higher dosages if you are subjected to stress, such as serious infections, injury, or surgery. Discuss this with your doctor. * If you have been taking this drug for more than a week, do not stop taking it suddenly. If it is stopped suddenly, you may experience abdominal or back pain, dizziness, fainting, fever, muscle or joint pain, nausea, vomiting, shortness of breath, or extreme weakness. Your doctor may, therefore, want to reduce the dosage gradually. Never increase the dosage or take the drug for longer than the prescribed time, unless you first consult your doctor. * While you are taking this drug, you should not be vaccinated or immunized. This medication decreases the effectiveness of vaccines and can lead to overwhelming infection if a live-virus vaccine is administered. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this drug can cause glaucoma and cataracts with long-term use, your doctor may want you to have your eyes examined by an ophthalmologist periodically during treatment. * If you are taking this medication for prolonged periods, you should wear or carry an identification card or notice that clearly states that you are taking an adrenocorticosteroid medication. * This medication can raise blood sugar levels in diabetic patients. Blood sugar levels should, therefore, be monitored carefully with blood or urine tests when this medication is being taken. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid hormone production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydrocortisone (systemic) H$pagetitle hydrocortisone (systemic) 03181.TXT Copyright (C) 1993 Publications International, Ltd. hydrocortisone (topical) _________________________ BRAND NAMES (Manufacturers) Acticort 100 (Baker/Cummins) Aeroseb-HC (Herbert) Ala-Cort (Del-Ray) Ala-Scalp (Del-Ray) Bactine Hydrocortisone [*] (Miles) CaldeCort Anti-Itch [*] (Fisons) CaldeCort Light with Aloe [*] (Fisons) Cetacort (Owen/Galderma) Cortaid [*] (Upjohn) Cort-Dome (Miles) Cortef Feminine Itch [*] (Upjohn) Cortizone-5 [*] (Thompson) Cortril (Pfizer) Delacort [*] (Mericon) Dermacort (Solvay) DermiCort [*] (Republic Drug) Dermolate Anti-Itch [*] (Schering) Dermolate Scalp-Itch [*] (Schering) Dermtex HC with aloe [*] (Pfeiffer) FoilleCort [*] (Blistex) Gynecort [*] (Combe) Hi-Cor (C & M Pharmaceuticals) hydrocortisone acetate (various manufacturers) Hydro-Tex (Syosset) Hydro-Tex [*] (Syosset) Hytone (Dermik) LactiCare-HC (Stiefel) Lanacort [*] (Combe) Locoid (Owen) Nutracort (Owen) Penecort (Herbert Labs) Synacort (Syntex) Texacort (GenDerm) Westcort (Westwood) * Available over-the-counter (without a prescription) in concentrations of 0.5% or less. TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT hydrocortisone DOSAGE FORMS Cream (0.1%, 0.2%, 0.25%, 0.5%, 1%, and 2.5%) Ointment (0.1%, 0.2%, 0.5%, 1%, and 2.5%) Lotion (0.25%, 0.5%, 1%, 2%, and 2.5%) Gel (0.5%) Pump spray (0.5%) Aerosol (0.5%) STORAGE Hydrocortisone cream, ointment, lotion, gel, pump spray, and aerosol should be stored at room temperature in tightly closed containers. This medication should never be frozen. The aerosol form of this medication is packaged under pressure. It should not be stored near heat or an open flame or in direct sunlight, and the container should never be punctured. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Hydrocortisone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve the skin inflammation (redness, swelling, itching, and discomfort) associated with conditions such as dermatitis, eczema, and poison ivy. TREATMENT Before applying this medication, wash your hands. Then, unless your doctor gives you different instructions, gently wash the area of the skin where the medication is to be applied. With a clean towel, pat the area almost dry; it should be slightly damp when you put the medicine on. Apply a small amount of the medication to the affected area in a thin layer. Do not bandage the area unless your doctor tells you to do so. If you are to apply an occlusive dressing (like kitchen plastic wrap), be sure you understand the instructions. Wash your hands again after application. If you are using the aerosol form, shake the can in order to disperse the medication evenly. Hold the can upright six to eight inches from the area to be sprayed, and spray the area for one to three seconds. DO NOT SMOKE while you are using the aerosol; the contents are under pressure and may explode when exposed to heat or flames. If you miss a dose of this medication, apply the dose as soon as possible, unless it is almost time for the next application. In that case, do not apply the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Acne, burning sensation, itching, skin dryness, or rash. If the affected area is extremely dry or scaling, the skin may be moistened before applying the medication by soaking in water or by applying water with a clean cloth. The ointment form is probably better for dry skin. A mild stinging sensation may occur after this medication is applied. If this persists, contact your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, irritation of the affected area, loss of skin color, secondary infection in the area being treated, or thinning of the skin with easy bruising. INTERACTIONS This medication should not interact with other medications as long as it is used according to the directions given to you by your doctor or pharmacist. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to hydrocortisone or other adrenocorticosteroids (such as amcinonide, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, flurandrenolide, halcinonide, methylprednisolone, paramethasone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had blood vessel disease, chicken pox, diabetes mellitus, fungal infections, peptic ulcers, shingles, tuberculosis, tuberculosis of the skin, vaccinia, or any other type of infection, especially at the site currently being treated. * If any irritation develops while using hydrocortisone, immediately discontinue its use and notify your doctor. * This product is not for use in the eyes, nose, or mouth; contact may result in side effects. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of hydrocortisone is increased if large areas of the body are treated, particularly if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctor's instructions exactly; do not leave the wrap in place longer than specified. * If you are using this medication on a child's diaper area, do not put tight-fitting diapers or plastic pants on the child. This may lead to increased systemic absorption of the drug and a possible increase in side effects. * In order to avoid freezing skin tissue when using the aerosol or pump spray form of hydrocortisone, make sure that you do not spray for more than three seconds; and hold the container at least six inches away from the skin. * When using the aerosol or pump spray form of this medication on the face, cover your eyes, and do not inhale the spray (in order to avoid side effects). * Be sure to tell your doctor if you are pregnant. If large amounts of this drug are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large oral doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the skin, small amounts of hydrocortisone pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid hormone production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydrocortisone (topical)L pagetitle hydrocortisone (topical) 03182.TXT Copyright (C) 1993 Publications International, Ltd. hydrocortisone and iodochlorhydroxyquin combination (topical) _________________________ BRAND NAMES (Manufacturers) Ala-Quin (Del-Ray) Corque (Geneva Generics) Cortin (C & M) hydrocortisone with iodochlorhydroxyquin (various manufacturers) Hysone (Hauck) Lanvisone (Lannett) Pedi-Cort V (Pedinol) Pramosone (Ferndale) Racet (Lemmon) Vioform-Hydrocortisone (Ciba) Vytone (Dermik) TYPE OF DRUG Adrenocorticosteroid hormone and anti-infective INGREDIENTS hydrocortisone and iodochlordroxyquin DOSAGE FORMS Cream (0.5% hydrocortisone with 1% or 3% iodochlorhydroxyquin; 1% hydrocortisone with 1% or 3% iodochlorhydroxyquin) Ointment (1% hydrcortisone with 3% iodochlorhydroxyquin) STORAGE Hydrocortisone and iodochlorhydroxyquin combination cream and ointment should be stored at room temperature in tightly closed, light-resistant containers. This medication should never be frozen. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reactions to inflammation). Hydrocortisone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve the skin inflammation (redness, swelling, itching, and discomfort) associated with conditions such as dermatitis and eczema. How this drug acts to relieve inflammation is not completely understood. Iodochlorhydroxyquin is an antibiotic that acts to prevent the growth of the infecting bacteria or fungi. TREATMENT Before applying this medication, wash your hands. Then, unless your doctor gives you different instructions, gently wash the area of the skin where the drug is to be applied. With a clean towel, pat the area almost dry; it should be slightly damp when you put the drug on. Apply a thin layer of the cream or ointment to the affected area. Do not bandage the area unless your doctor tells you to do so. If you are to apply an occlusive dressing (like kitchen plastic wrap), be sure you understand the instructions. Wash your hands again after application. If you miss a dose of this drug, apply the dose as soon as possible, unless it is almost time for the next dose. In that case, do not apply the dose at all; just return to your schedule. Do not put twice as much of the medication on your skin at the next application. It is important to continue to take the medication for the entire time prescribed by your doctor, even if the symptoms of infection disappear before the end of that period. If you stop applying the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Acne, burning sensation, skin dryness, itching, or rash. These side effects should disappear as your body adjusts to the medication. If the affected area is extremely dry or scaling, the skin may be moistened before applying the medication by soaking in water or by applying water with a clean cloth. The ointment form is probably better for dry skin. A mild stinging sensation may occur after this medication is applied. If this persists, contact your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, irritation of the affected area, loss of skin color, secondary infection at the affected site, or thinning of the skin with easy bruising. INTERACTIONS This medication should not interact with other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to hydrocortisone or any other adrenocorticosteroid (such as amcinonide, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, flurandrenolide, methylprednisolone, prednisolone, prednisone, and triamcinolone), to iodochlorhydroxyquin, or to iodine. * Tell your doctor if you now have or if you have ever had tuberculosis or viral or fungal infections of the skin. * This product may affect the results of thyroid function tests. If you are scheduled to have such a test, be sure your doctor knows that you are using this medication. * If additional irritation develops while using this drug, immediately discontinue its use and notify your doctor. * This product is not for use in the eyes or mucous membranes; contact may result in side effects. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of this drug is increased if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctor's instructions exactly; do not leave the wrap in place longer than specified. * If you are using this medication on a child's diaper area, do not put tight-fitting diapers or plastic pants on the child. This may lead to increased systemic absorption of the drug and a possible increase in side effects. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. Birth defects have been observed in the offspring of animals that were given large oral doses of hydrocortisone during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of hydrocortisone pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. hydrocortisone and iodochlorhydroxyquin combinatio...topical) pagetitle hydrocortisone and iodochlorhydroxyquin combination (topical) 03151.TXT Copyright (C) 1993 Publications International, Ltd. ethacrynic acid _________________________ BRAND NAME (Manufacturer) Edecrin (Merck Sharp & Dohme) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT ethacrynic acid DOSAGE FORM Tablets (25 mg and 50 mg) STORAGE Ethacrynic acid should be stored at room temperature in a tightly closed, light-resistant container. Ethacrynic acid is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. This medication reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To decrease stomach irritation, you can take ethacrynic acid with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 P.M.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you take it. SIDE EFFECTS Minor. Blurred vision, cramping, diarrhea, dizziness, headache, loss of appetite, sore mouth, or stomach upset. As your body adjusts to the medication, these side effects should disappear. This medication will cause an increase in the amount of urine or in the frequency of urination when you first begin to take it. It may also cause you to have an unusual feeling of tiredness. These effects should lessen after several days. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about black, tarry stools; confusion; difficulty in breathing; dry mouth; fainting; increased thirst; itching; joint pains; loss of appetite; mood changes; muscle cramps; nausea; palpitations; rash; ringing in the ears; sore throat; severe abdominal pain; tingling in the fingers and toes; unusual bleeding or bruising; vomiting; watery diarrhea; weakness; or yellowing of the eyes or skin. INTERACTIONS Ethacrynic acid interacts with several other types of drugs: 1. It can increase the side effects of alcohol, barbiturates, narcotics, cephalosporin antibiotics, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, amphotericin B, heparin, and warfarin. 2. Probenecid and indomethacin may decrease the effectiveness of this medicine. 3. The effectiveness of antigout medications, insulin, and oral antidiabetic medications may be decreased by ethacrynic acid. Before taking ethacrynic acid, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to ethacrynic acid or other diuretics. * Before you start taking this medication, tell your doctor if you now have or if you have ever had kidney disease, problems with urination, systemic lupus erythematosus, or liver disease. * This drug can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. Your doctor may have blood tests performed periodically to monitor your potassium levels. To help avoid potassium loss, take this drug with a glass of fresh or frozen orange or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * Before having any kind of surgery or other medical or dental treatment, be sure to tell your doctor or dentist that you are taking ethacrynic acid. * To prevent dizziness, light-headedness, and fainting, get up from a sitting or lying position slowly, avoid standing for long periods of time, and avoid strenuous exercise and prolonged exposure to hot weather. * While taking this medication, limit your intake of alcoholic beverages in order to prevent dizziness or light-headedness. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medication for weight control or for allergy, asthma, cough, cold, or sinus problems unless you first check with your doctor. * The elderly may be more sensitive to the medication. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta. Although studies in humans have not been conducted, adverse effects have been observed in the fetuses of animals that received large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ethacrynic acid pagetitle ethacrynic acid 03152.TXT Copyright (C) 1993 Publications International, Ltd. ethinyl estradiol _________________________ BRAND NAMES (Manufacturers) Estinyl (Schering) Feminone (Upjohn) TYPE OF DRUG Estrogen INGREDIENT ethinyl estradiol DOSAGE FORM Tablets (0.02 mg, 0.05 mg, and 0.5 mg) STORAGE Ethinyl estradiol should be stored at room temperature in a tightly closed container. Ethinyl estradiol is a synthetic estrogen that is used to treat menopausal symptoms, certain types of breast cancer, and prostate cancer. TREATMENT To avoid stomach irritation, take ethinyl estradiol with food, milk, or water (unless your doctor directs otherwise). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal cramping, abnormal vaginal bleeding, bloating, breast tenderness, darkening of the skin, diarrhea, dizziness, fluid retention, frequent or painful urination, headache, nausea, vomiting, or weight gain. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. You should, therefore, try to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Eating a full breakfast or having a midmorning snack may help to relieve the nausea and vomiting. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, chest pain, convulsions, depression, hair loss, itching, pain or inflammation of the calves or thighs, shortness of breath, skin rash, or yellowing of the eyes or skin. INTERACTIONS Ethinyl estradiol interacts with other types of medications: 1. It can decrease the effectiveness of oral anticoagulants (blood thinners, such as warfarin). 2. Ampicillin, carbamazepine, phenobarbital, phenytoin, primidone, and rifampin can reduce the effectiveness of ethinyl estradiol. 3. Ethinyl estradiol can increase the side effects and decrease the effectiveness of tricyclic antidepressants. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to ethinyl estradiol or other estrogens, or to oral contraceptives (birth control pills). * Tell your doctor if you now have or if you have ever had asthma, blood clot disorders, breast disease, depression, diabetes mellitus, epilepsy, endometriosis, gallstones or gallbladder disease, heart disease, high blood pressure, kidney disease, liver disease, migraine headaches, porphyria, or uterine tumors. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (shortness of breath, fainting, rash) in certain susceptible individuals. * Estrogens can change your blood's clotting ability, so be especially careful to avoid injuries. * Estrogens can cause a change in glucose tolerance in diabetic patients. Be sure to tell your doctor if you notice any abnormalities in your urine or blood glucose levels. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * A package insert titled "Information for the Patient" should be dispensed with your prescription. It is important that you understand the possible risks and benefits of this medication. If you have any questions, check with your doctor or pharmacist. * Although it is not known if estrogens increase the risk of breast cancer, it is important that you examine your breasts regularly for lumps or discharge. * Cigarette smoking can greatly increase the risk of developing heart or blood vessel disorders while taking this medication. The risks increase with the amount of smoking and the age of the smoker. * Be sure to tell your doctor if you are pregnant. If you suspect you are pregnant, discontinue use of this medication immediately. Estrogens have caused birth defects in the offspring of women who received these medications during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of estrogen pass into breast milk. Ethinyl estradiol can also decrease milk production. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Estinyl 0315201.scfK ethinyl estradiol logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle ethinyl estradiol 03153.TXT Copyright (C) 1993 Publications International, Ltd. ethosuximide _________________________ BRAND NAME (Manufacturer) Zarontin (Parke-Davis) TYPE OF DRUG Anticonvulsant INGREDIENT ethosuximide DOSAGE FORMS Capsules (250 mg) Oral syrup (250 mg per 5-ml spoonful) STORAGE Ethosuximide capsules and oral syrup should be stored at room temperature in tightly closed, light-resistant containers. It should never be frozen. Discard any outdated medication. This medication is used to treat absence (petit mal) seizures. Although it is not exactly clear how it does so, ethosuximide seems to prevent seizure activity by decreasing the activity of certain chemicals (nerve transmitters) in the brain. TREATMENT To avoid stomach irritation, take ethosuximide with food, water, or milk (unless your doctor directs you otherwise). Each dose of the oral syrup form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. A kitchen teaspoon is not accurate enough. Ethosuximide works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take three doses a day, the doses should be spaced eight hours apart. It is important to try not to miss any doses of this medication. If you do miss a dose, and remember within four hours, take the missed dose immediately and then return to your normal schedule. If more than four hours have passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, headache, hiccups, loss of appetite, nausea, stomach upset, or weight loss. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, depression, difficult or painful urination, false sense of well-being, fatigue, irritability, joint pains, loss of coordination, mental disorders, mood changes, nervousness, skin rash, swelling of the eyes or tongue, unusual bleeding or bruising, or vaginal bleeding. INTERACTIONS This drug can interact with several other types of drugs: 1. Tricyclic antidepressants, haloperidol, thiothixene, phenothiazine tranquilizers, and alcohol can increase the risk of seizures. Dosage adjustments of ethosuximide may be necessary when any of these medications are started. 2. Isoniazid can increase the side effects of ethosuximide. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to ethosuximide, methsuximide, or phensuximide. * Tell your doctor if you now have or if you have ever had blood disorders, kidney disease, or liver disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Children should be careful while playing. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking ethosuximide. * Do not stop taking this medication unless you first check with your doctor. Stopping the drug abruptly may lead to a worsening of your condition. Your doctor may want to reduce your dosage gradually or start you on another drug when treatment with ethosuximide is discontinued. * Your doctor may schedule regular office visits, especially during the first few months of therapy, to be sure the drug is working properly. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported more often in infants whose mothers have seizure disorders. It is unclear if the increased risk of birth defects is associated with the disorder or with the anticonvulsant medications, such as ethosuximide, used to treat the condition. Also, tell your doctor if you are breast-feeding an infant. Ethosuximide passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Zarontin 0315301.scf ethosuximide7 logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle ethosuximide Zarontin Capsules 0315301.scf 03154.TXT Copyright (C) 1993 Publications International, Ltd. famotidine _________________________ BRAND NAME (Manufacturer) Pepcid (Merck Sharp & Dohme) TYPE OF DRUG Gastric acid secretion inhibitor (decreases stomach acid) INGREDIENT famotidine DOSAGE FORMS Tablets (20 mg and 40 mg) Oral suspension (40 mg per 5-ml spoonful) STORAGE Famotidine should be stored at room temperature (never frozen) in a tightly closed container. Avoid exposure of this medication to high temperatures during storage. Famotidine is used to treat active duodenal ulcers. It is also used in the long-term treatment of excessive stomach acid secretion (Zollinger-Ellison syndrome) and in the prevention of recurrent ulcers. Famotidine reduces stomach acid secretions by blocking the effects of histamine in the stomach. TREATMENT If you are taking a single daily dose of famotidine, it is best to take the dose at bedtime in order to obtain the maximum benefits from it. Antacids will not affect the activity of famotidine. Check with your doctor to see if you should be taking antacids as part of your ulcer treatment. The oral liquid should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough to ensure that the proper dose will be taken. If you miss a dose of famotidine, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, acne, change in taste, constipation, diarrhea, dizziness, dry mouth, dry skin, fatigue, flushing, headache, insomnia, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to this drug. If you are constipated, exercise and drink more water (unless your doctor tells you not to do so). To reduce mouth dryness, chew sugarless gum or suck on ice chips or hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, confusion, depression, fever, hair loss, hallucinations, itching, muscle or joint pain, palpitations, ringing in the ear, seizures, shortness of breath, tingling in the fingers or toes, or yellowing of the eyes or skin. INTERACTIONS No drug interactions with famotidine have yet been confirmed. It is still very important, however, to tell your doctor about all of the medications you are taking before starting famotidine. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to famotidine or to the other gastric acid secretion inhibitors (cimetidine and ranitidine). * Before starting famotidine, tell your doctor if you now have or if you have ever had kidney disease. * Famotidine should be taken continuously for as long as your doctor prescribes. Stopping therapy early may be a cause of ineffective treatment. * Cigarette smoking may interfere with the beneficial effects of famotidine. * Aspirin, foods known to cause stomach upset, and certain drinks (such as those containing caffeine) may worsen your stomach irritation. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Be sure to tell your doctor if you are pregnant. Studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of famotidine pass into animal milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. famotidinehe f pagetitle famotidine 03155.TXT Copyright (C) 1993 Publications International, Ltd. fenfluramine _________________________ BRAND NAME (Manufacturer) Pondimin (Robins) TYPE OF DRUG Anorectic INGREDIENT fenfluramine DOSAGE FORM Tablets (20 mg) STORAGE Fenfluramine should be stored at room temperature in a tightly closed, light-resistant container. Fenfluramine is used as an appetite suppressant during the first few weeks of dieting to help establish new eating habits. This medication is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness lasts only for short periods (three to 12 weeks). TREATMENT You can take fenfluramine with a full glass of water, one hour before meals (unless your doctor directs you to do otherwise). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, constipation, diarrhea, dizziness, dry mouth, euphoria, fatigue, frequent urination, headache, insomnia, irritability, nausea, nervousness, restlessness, stomach pain, sweating, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the medication. Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. In order to prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in sexual desire, chest pain, difficulty in urinating, enlarged breasts (in both sexes), fever, hair loss, headaches, impotence, increased blood pressure, menstrual irregularities, mental depression, mood changes, mouth sores, muscle pains, nosebleeds, palpitations, rash, sore throat, or tremors. INTERACTIONS Fenfluramine anorectic medication interacts with several other types of medications: 1. Concurrent use of it with central nervous system depressants (such as alcohol, antihistamines, barbiturates, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Fenfluramine may alter insulin and oral antidiabetic medication dosage requirements in diabetic patients. 3. The blood-pressure-lowering effects of antihypertensive medications, especially guanethidine, reserpine, methyldopa, and diuretics (water pills), may be increased by this medication. 4. Use of fenfluramine within 14 days of a monoamine oxidase (MAO) inhibitor (isocarboxazid, pargyline, phenelzine, tranylcypromine) can result in high blood pressure and other side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to fenfluramine or other appetite suppressants (such as benzphetamine, phendimetrazine, diethylpropion, phenmetrazine, mazindol, and phentermine), or to epinephrine, norepinephrine, ephedrine, amphetamines, dextroamphetamine, phenylephrine, phenylpropanolamine, pseudoephedrine, albuterol, metaproterenol, or terbutaline. * Tell your doctor if you have a history of drug abuse or alcoholism or if you have ever had angina, diabetes mellitus, emotional disturbances, glaucoma, heart or cardiovascular disease, high blood pressure, thyroid disease, epilepsy, or mental depression. * Fenfluramine can mask the symptoms of extreme fatigue and can cause dizziness or light-headedness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous equipment, may be decreased during therapy with this medication. Appropriate caution should also be taken when going up and down stairs. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Fenfluramine is related to amphetamine and may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). You should, therefore, not increase the dosage of this medication or take it for longer than 12 weeks, unless you first consult your doctor. It is also important that you not stop taking this medication abruptly. Fatigue, sleep disorders, mental depression, nausea, vomiting, stomach cramps, or pain could occur. Your doctor may want to decrease your dosage gradually in order to prevent these side effects. * Fenfluramine can alter blood sugar levels in diabetic patients. Therefore, it is important to note that if you are diabetic and starting to take this medication, you should carefully monitor your blood or urine glucose levels for the first several days. * Be sure to tell your doctor if you are pregnant. Although side effects in humans have not been studied, some of the appetite suppressants have been shown to cause side effects in the fetuses of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this medication passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. fenfluraminean. Y pagetitle fenfluramine 03156.TXT Copyright (C) 1993 Publications International, Ltd. fenoprofen _________________________ BRAND NAMES (Manufacturers) fenoprofen (various manufacturers) Nalfon (Dista) Nalfon 200 (Dista) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT fenoprofen DOSAGE FORMS Capsules (200 mg and 300 mg) Tablets (600 mg) STORAGE This medication should be stored in tightly closed containers at room temperature away from heat and direct sunlight. Fenoprofen is used to treat the inflammation (pain, swelling, and stiffness) of certain types of arthritis, gout, bursitis, and tendinitis. Fenoprofen has been shown to block the production of certain body chemicals, called prostaglandins, that trigger pain. However, it is not yet fully understood how fenoprofen works. TREATMENT You should take this medication on an empty stomach 30 to 60 minutes before meals or two hours after meals, so that it gets into your bloodstream quickly. Since fenoprofen can cause stomach irritation, however, your doctor may want you to take this medicine with food or antacids. If you are taking fenoprofen to relieve arthritis, you must take it regularly as directed by your doctor. It may take up to three weeks before you feel its full benefits. This medication does not cure arthritis, but it will help to control the condition as long as you continue to take it. It is important to take fenoprofen on schedule and not to miss any doses. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, soreness of the mouth, unusual sweating, or vomiting. As your body adjusts to the drug, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. If any side effects are persistent or particularly bothersome, you should report them to your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; difficult or painful urination; difficulty in breathing; hearing difficulties; palpitations; ringing or buzzing in the ears; skin rash, hives, or itching; stomach pain; swelling of the feet; tightness in the chest; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; or yellowing of the eyes or skin. INTERACTIONS Fenoprofen interacts with several types of medications: 1. Anticoagulants (blood thinners, such as warfarin) can lead to an increase in bleeding complications. 2. Aspirin, salicylates, and other anti-inflammatory medications can lead to an increase in stomach irritation caused by fenoprofen. 3. Fenoprofen levels may be affected by concurrent use of phenobarbital. 4. Probenecid may increase blood levels of fenoprofen, which may increase the risk of side effects. 5. The action of beta blockers may be decreased by this drug. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to medications, especially to fenoprofen or any chemically related drug (such as aspirin or other salicylates, diclofenac, diflunisal, flurbiprofen, indomethacin, ibuprofen, oxyphenbutazone, piroxicam, sulindac, or tolmetin). * Tell your doctor if you have ever had bleeding problems, colitis, ulcers or other stomach problems, epilepsy, heart disease, high blood pressure, asthma, kidney disease, liver disease, mental illness, or Parkinson's disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or other medical or dental treatment, tell your doctor or dentist about this drug. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. These should, therefore, be avoided (unless your doctor directs you to do otherwise). * Be sure to tell your doctor if you are pregnant. Although studies in humans have not been conducted, unwanted heart side effects have been reported in the offspring of animals that received fenoprofen during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication can pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Nalfon 300 mg,Nalfon 600 mg,Nalfon 200 0315601.scf,0315602.scf,0315603.scf fenoprofen logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle fenoprofen 03157.TXT Copyright (C) 1993 Publications International, Ltd. flunisolide (nasal) _________________________ BRAND NAME (Manufacturer) Nasalide (Syntex) TYPE OF DRUG Nasal adrenocorticosteroid hormone INGREDIENT flunisolide DOSAGE FORM Nasal solution (25 mcg flunisolide per spray) STORAGE Flunisolide nasal solution should be stored at room temperature in a tightly closed container. Opened containers of this medication should be discarded after three months. Flunisolide nasal solution is used to relieve symptoms of rhinitis (inflammation of the nasal passages). How this drug acts to relieve these symptoms is not completely understood. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Flunisolide belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). TREATMENT Just before applying flunisolide nasal solution, clear your nasal passages of all secretions. Then carefully follow the patient instructions, which you should receive when your prescription is dispensed. The instructions will explain how to properly apply this medication. Do not increase the dose of flunisolide or increase the number of applications per day without first checking with your doctor. If your doctor recommends that you use a nasal decongestant to clear your nasal passages, use the decongestant just before you apply flunisolide. Relief from the symptoms of inflammation may not become apparent for up to three weeks after starting flunisolide. This drug does not cure the cause of inflammation, but it may help relieve the symptoms as long as you continue to use it. Therefore, its effectiveness depends on regular use while the condition is present. Your doctor may then recommend that you gradually decrease the number of daily doses as your condition improves. If there is no improvement in your condition within three weeks after starting flunisolide, check with your doctor. He or she may want you to stop the medication. Try not to miss any doses of this medication. If you do miss a dose, apply the dose as soon as possible, unless it is almost time for the next dose. In that case, do not apply the missed dose; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Drying of nasal passages, headache, loss of smell or taste, nasal congestion, nasal irritation, nausea, nosebleeds, sneezing, sore throat, vomiting, or watery eyes. These side effects should disappear as your body adjusts to this medication. A mild, temporary burning or stinging sensation may occur after this medication is applied. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about persistent burning or stinging after application. INTERACTIONS This medication should not interact with any other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to flunisolide or other adrenocorticosteroids (such as amcinonide, beclomethasone, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, flurandrenolide, halcinonide, hydrocortisone, methylprednisolone, paramethasone, prednisolone, prednisone, and triamcinolone). * Before starting flunisolide, tell your doctor if you now have or if you have ever had chicken pox, diabetes mellitus, or tuberculosis. * Flunisolide can slow the healing of wounds. Therefore, tell your doctor about recent nasal surgery or injury, recurrent nosebleeds, or nasal ulcers. * Tell your doctor if you are pregnant. Birth defects have been observed in the offspring of animals that were given large doses of this drug during pregnancy. Tell your doctor if you are breast-feeding. Small amounts of adrenocorticosteroids do pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. flunisolide (nasal) pagetitle flunisolide (nasal) 03158.TXT Copyright (C) 1993 Publications International, Ltd. fluocinolone (topical) _________________________ BRAND NAMES (Manufacturers) fluocinolone acetonide (various manufacturers) Fluonid (Herbert) Flurosyn (Rugby) Synalar (Syntex) Synalar-HP (Syntex) Synemol (Syntex) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT fluocinolone DOSAGE FORMS Cream (0.01%, 0.025%, and 0.2%) Ointment (0.025%) Solution (0.01%) STORAGE Store at room temperature in a tightly closed container. This medication should never be frozen. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Fluocinolone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve the skin inflammation (redness, swelling, itching, and discomfort) associated with conditions such as dermatitis, eczema, and poison ivy. How this drug works is not completely understood. TREATMENT Before applying this medication, wash your hands. Then, unless your doctor gives you different instructions, gently wash the area of the skin where the medication is to be applied. With a clean towel, pat the area until it is almost dry; it should be slightly damp when you put the medicine on. Apply a small amount of fluocinolone to the affected area in a thin layer. Do not bandage the area unless your doctor tells you to do so. If you are to apply an occlusive dressing (like kitchen plastic wrap), ask for instructions. Wash your hands again after application. If you miss a dose of this medication, apply the missed dose as soon as possible, unless it is almost time for the next application. In that case, do not apply the missed dose at all; just return to your regular schedule. Do not put twice as much of the medication on your skin at the next application. SIDE EFFECTS Minor. Acne, burning, itching, rash, or skin dryness. If the affected area is extremely dry or scaling, the skin may be moistened before applying the medication by soaking in water or by applying water with a clean cloth. The ointment form is probably better for dry skin. A mild, temporary stinging sensation may occur after this medication is applied. If this persists, contact your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, irritation of the affected area, loss of skin color, secondary infection in the area being treated, or thinning of the skin with easy bruising. INTERACTIONS This medication should not interact with other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to fluocinolone or any other adrenocorticosteroid (such as amcinonide, beclomethasone, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinonide, fluorometholone, flurandrenolide, halcinonide, hydrocortisone, methylprednisolone, paramethasone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had blood vessel disease, chicken pox, diabetes mellitus, fungal infection, peptic ulcers, shingles, tuberculosis, tuberculosis of the skin, vaccinia, or any other type of infection, especially at the site currently being treated. * If irritation develops while using this drug, immediately discontinue its use and notify your doctor. * This product is not for use in the eyes, nose, or mouth; contact may result in side effects. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of this drug is increased if large areas of the body are treated, particularly if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctor's instructions exactly; do not leave the wrap in place longer than specified. * If you are using fluocinolone on a child's diaper area, do not put tight-fitting diapers or plastic pants on the child. This could lead to increased systemic absorption of the drug and a possible increase in side effects. * Be sure to tell your doctor if you are pregnant. If large amounts of this drug are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large oral doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the skin, small amounts of this medication pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid hormone production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem... fluocinolone (topical)firs pagetitle fluocinolone (topical) 03159.TXT Copyright (C) 1993 Publications International, Ltd. fluocinonide (topical) _________________________ BRAND NAMES (Manufacturers) fluocinonide (various manufacturers) Lidex (Syntex) Lidex-E (Syntex) Vasoderm (Taro) Vasoderm E (Taro) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT fluocinonide DOSAGE FORMS Ointment (0.05%) Cream (0.05%) Gel (0.05%) Solution (0.05%, with 35% alcohol) STORAGE Fluocinonide ointment, cream, gel, and solution should be stored at room temperature in tightly closed containers. This medication should never be frozen. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Fluocinonide belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve the skin inflammation (redness, swelling, itching, and discomfort) associated with conditions such as dermatitis, eczema, and poison ivy. How this drug works is not completely understood. TREATMENT Before applying this medication, wash your hands. Then, unless your doctor gives you different instructions, gently wash the area of the skin where the medication is to be applied. With a clean towel, pat the area almost dry; it should be slightly damp when you put the medicine on. Apply a small amount of fluocinonide to the affected area in a thin layer. Do not bandage the area unless your doctor tells you to do so. If you are to apply an occlusive dressing (like kitchen plastic wrap), be sure you understand the instructions. Wash your hands again after application. If you miss a dose of this medication, apply the missed dose as soon as possible, unless it is almost time for the next application. In that case, do not apply the missed dose at all; just return to your regular schedule. Do not double the next dose. SIDE EFFECTS Minor. Acne, burning sensation, itching, rash, or dry skin. If the affected area is extremely dry or scaling, the skin may be moistened before applying the medication by soaking in water or by applying water with a clean cloth. The ointment form is probably better for dry skin. A mild, temporary stinging sensation may occur after this medication is applied. If this persists, contact your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, irritation of the affected area, loss of skin color, secondary infection in the area being treated, or thinning of the skin with easy bruising. INTERACTIONS This medication should not interact with any other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to fluocinonide or any other adrenocorticosteroid (such as amcinonide, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluorometholone, flurandrenolide, halcinonide, hydrocortisone, methylprednisolone, paramethasone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had blood vessel disease, chicken pox, diabetes mellitus, fungal infection, peptic ulcers, shingles, tuberculosis, tuberculosis of the skin, vaccinia, or any other type of infection, especially at the site currently being treated. * If any type of irritation develops while using this drug, you should immediately discontinue use of the medication and notify your doctor. * Fluocinonide is a topical medication. It is meant for use on the skin only. This product is not for use in the eyes, nose, or mouth; contact may result in side effects. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of this drug is increased if large areas of the body are treated, particularly if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctor's instructions exactly; do not leave the wrap in place longer than specified. * If you are using fluocinonide on a child's diaper area, do not put tight-fitting diapers or plastic pants on the child. This may lead to increased systemic absorption of the drug and a possible increase in side effects. * Be sure to tell your doctor if you are pregnant. If large amounts of this drug are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large oral doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the skin, small amounts of fluocinonide pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid hormone production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. fluocinonide (topical)in t pagetitle fluocinonide (topical) 03160.TXT Copyright (C) 1993 Publications International, Ltd. fluoxetine _________________________ BRAND NAME (Manufacturer) Prozac (Dista) TYPE OF DRUG Cyclic antidepressant INGREDIENT fluoxetine DOSAGE FORMS Capsules (20 mg) Liquid (20 mg per 5 ml spoonful) STORAGE Store at room temperature in a tightly closed container. Do not store in the bathroom. Heat or moisture can cause this medicine to break down. Fluoxetine is used to treat the symptoms of mental depression. It increases the concentration of certain chemicals necessary for nerve transmission in the brain. TREATMENT This medication should be taken exactly as prescribed by your doctor. In order to avoid stomach irritation, you can take fluoxetine with food or with a full glass of water (unless your doctor directs you to do otherwise). The effects of therapy with this medication may not become apparent for one to three weeks. If you miss a dose of this medicine, it is not necessary to make up the missed dose. Skip that dose and continue at the next scheduled time. You should never take a double dose to make up for one you missed. SIDE EFFECTS Minor. Agitation, change in vision, changes in taste, constipation, decreased appetite, decreased mental concentration, decreased sex drive, diarrhea, dizziness, drowsiness, dry mouth, fast heartbeat, flushing, frequent urination, headache, increased sweating, nausea, stomach cramps, stuffy nose, vomiting, or weight gain or loss. Dry mouth can be relieved by chewing sugarless gum or sucking on hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness when you stand, contract and relax the muscles of your legs for a few moments before rising. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, chills or fever, convulsions (seizures), enlarged lymph glands (swelling under jaw or in armpits or groin area), difficulty in breathing, joint or muscle pain, skin rash or hives, or swelling of the feet or lower legs. INTERACTIONS Fluoxetine interacts with a number of other types of drugs: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with other antidepressants. 2. Fluoxetine may increase the effects of anticoagulants (blood thinners, such as warfarin) and certain heart medications (such as digitoxin). 3. Serious side effects may occur if a monoamine oxidase (MAO) inhibitor (such as furazolidone, isocarboxazid, pargyline, phenelzine, procarbazine, or tranylcypromine) is taken with fluoxetine. At least 14 days should separate the use of fluoxetine and the use of an MAO inhibitor. 4. Fluoxetine can increase agitation, restlessness, and stomach irritation when taken along with tryptophan. Before starting to take fluoxetine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor immediately if you develop a skin rash or hives while taking this medication, or if you have ever had an allergic reaction to fluoxetine. * Tell your doctor if you have allergies to any substance, such as foods, sulfites or other preservatives, or dyes. * Before starting to take this medication, be sure to tell your doctor if you have a history of alcoholism or if you have ever had a heart attack, asthma, circulatory disease, difficulty in urinating, electroshock therapy, enlarged prostate gland, epilepsy, glaucoma, high blood pressure, intestinal problems, liver or kidney disease, mental illness, stomach problems, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Do not stop taking this drug suddenly. Abruptly stopping it can cause nausea, headache, stomach upset, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The elderly may be at increased risk for side effects. Use this drug cautiously, and report any mental status changes to your doctor immediately. * The effects of this medication may persist for as long as five weeks after you stop taking it, so continue to observe all precautions during that period. * Be sure to tell your doctor if you are pregnant. Although birth defects have not been documented in animal studies, it is not known if fluoxetine is safe during human pregnancy. It is also not known if fluoxetine passes into breast milk, so be sure to tell your doctor if you are breast-feeding an infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. fluoxetine pagetitle fluoxetine 03161.TXT @%4%Copyright (C) 1993 Publications International, Ltd. fluphenazine _________________________ BRAND NAMES (Manufacturers) Permitil (Schering) Prolixin (Princeton) TYPE OF DRUG Phenothiazine tranquilizer INGREDIENT fluphenazine DOSAGE FORMS Tablets (1 mg, 2.5 mg, 5 mg, and 10 mg) Oral concentrate (5 mg per ml, with 1% alcohol) Oral elixir (2.5 mg per 5-ml spoonful, with 14% alcohol) STORAGE The tablet form should be stored at room temperature in a tightly closed, light-resistant container. The oral concentrate and the elixir forms should be stored in the refrigerator in tightly closed, light-resistant containers. If the concentrate or elixir turns slightly yellow, the medicine is still effective and can be used. However, if it changes color markedly or has particles floating in it, it should not be used; discard it down the sink. This drug should never be frozen. Fluphenazine is prescribed to treat the symptoms of certain types of mental illness, such as emotional symptoms of psychosis, the manic phase of manic-depressive illness, and severe behavioral problems in children and adults. This medication is thought to relieve the symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. TREATMENT To avoid stomach irritation, you can take the tablet or elixir form of this medication with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). Measure the oral elixir carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The oral concentrate form of this medication should be measured carefully with the dropper provided, then added to four ounces (1/2 cup) or more of water, milk, or a cola-free, caffeine-free carbonated beverage or to applesauce or pudding immediately prior to administration. To prevent possible loss of effectiveness, the medication should not be diluted in tea, coffee, or apple juice. Antacids and antidiarrheal medicines may decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least one hour should separate doses of one of these medicines and fluphenazine. The full effects of this medication for the control of emotional or mental symptoms may not become apparent until two weeks after you start to take it. If you miss a dose of this medication, take the missed dose as soon as possible and return to your regular dosing schedule. If it is almost time for the next dose, however, skip the one you missed and return to your regular schedule. Do not double the dose (unless your doctor directs you to do so). SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drooling, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, vomiting, or weight gain. As your body adjusts to the medication, these side effects should disappear. Fluphenazine can also cause discoloration of the urine to red, pink, or red-brown. This is a harmless effect. This drug can cause increased sensitivity to sunlight. Therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, tongue, or limbs; palpitations; rash; sleep disorders; sore throat; tremors; uncoordinated movements; unusual bleeding or bruising; visual disturbances; or yellowing of the eyes or skin. Also, tell your doctor if your original symptoms worsen or change after you begin taking fluphenazine. INTERACTIONS Fluphenazine interacts with several other types of medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications) or with tricyclic antidepressants. 2. Fluphenazine can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, propranolol, phenytoin, and tricyclic antidepressants may be increased by this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 4. Lithium may increase the side effects and decrease the effectiveness of this medication. Before starting to take fluphenazine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to fluphenazine or any other phenothiazine tranquilizers (such as chlorpromazine, mesoridazine, perphenazine, prochlorperazine, promazine, thioridazine, and triflupromazine) or to loxapine. * Tell your doctor if you have a history of alcoholism or if you now have or have ever had any blood disease, bone marrow disease, brain disease, breast cancer, blockage of the urinary or digestive tract, drug-induced depression, epilepsy, high or low blood pressure, diabetes mellitus, glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or an enlarged prostate gland. * Tell your doctor about any recent exposure to a pesticide or an insecticide. Fluphenazine may increase the side effects from the exposure. * To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Prior to having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * This medication can decrease sweating and heat release from the body. You should, therefore, avoid getting overheated by strenuous exercise in hot weather and should avoid hot baths, showers, and saunas. * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * If you are planning to have a myelogram, or any other procedure in which dye will be injected into your spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral concentrate or elixir form of this medication on your skin or clothing; it may cause redness and irritation of the skin. * While taking this medication, do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems without first checking with your doctor. The combination of these medications may cause high blood pressure. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (shortness of breath, rash, fainting) in certain susceptible individuals. * A potentially permanent movement disorder called tardive dyskinesia may develop with the use of this medication. It is important to discuss this with your doctor and to report any unusual or uncontrolled movements. * The elderly may be at greater risk for adverse effects when using this drug. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unwanted effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. fluphenazineNT <&pagetitle fluphenazine 03162.TXT Copyright (C) 1993 Publications International, Ltd. flurandrenolide (topical) _________________________ BRAND NAMES (Manufacturers) Cordran (Dista) Cordran SP (Dista) flurandrenolide (various manufacturers) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT flurandrenolide DOSAGE FORMS Ointment (0.025% and 0.05%) Cream (0.025% and 0.05%) Lotion (0.05%) Tape (4 mcg per square centimeter of tape) STORAGE Flurandrenolide ointment, cream, lotion, and tape should be stored at room temperature in tightly closed containers. This medication should never be frozen. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Flurandrenolide belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve the skin inflammation (redness, swelling, itching, and discomfort) associated with conditions such as dermatitis, eczema, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT Before applying this medication, wash your hands. Then, unless your doctor gives you different instructions, gently wash the area of the skin where the medication is to be applied. With a clean towel, pat the area almost dry; it should be slightly damp when you put the medicine on. If you are using the lotion form of this medication, shake the bottle well before pouring out the medicine. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Apply a small amount of the medication to the affected area in a thin layer. Do not bandage the area unless your doctor tells you to do so. If you are to apply an occlusive dressing (like kitchen plastic wrap), be sure you understand the instructions. When using the tape form of this medication, dry the skin thoroughly before applying the tape. Remove the tape from the package and cut a piece slightly larger than the area to be covered. Round off the corners. Pull the white paper from the transparent tape (be careful that the tape does not stick to itself). Press the tape into place, keeping the skin smooth. If ends of the tape loosen, they may be trimmed off and replaced with fresh tape. The tape should be cut, never torn. If you miss a dose of this medication, apply the dose as soon as possible, unless it is almost time for the next application. In that case, do not apply the missed dose; just return to your regular schedule. Do not put twice as much of the medication on your skin at the next application. SIDE EFFECTS Minor. Acne, burning sensation, itching, rash, or skin dryness. If the affected area is extremely dry or scaling, the skin may be moistened before applying the medication by soaking in water or by applying water with a clean cloth. The ointment form is probably better for dry skin. A mild, temporary stinging sensation may occur after this medication is applied. If this persists, contact your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, irritation of the affected area, loss of skin color, secondary infection in the area being treated, or thinning of the skin with easy bruising. INTERACTIONS This medication does not interact with any other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to flurandrenolide or any other adrenocorticosteroid (such as amcinonide, betamethasone, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, halcinonide, hydrocortisone, methylprednisolone, paramethasone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had blood vessel disease, chicken pox, diabetes mellitus, fungal infection, peptic ulcers, shingles, tuberculosis, tuberculosis of the skin, vaccinia, or any other type of infection, especially at the site currently being treated. * If irritation develops while using this drug, immediately discontinue its use and notify your doctor. * This product is not for use in the eyes or mucous membranes; contact may result in side effects. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of this drug is increased if extensive areas of the body are treated, particularly if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctor's instructions exactly; do not leave the wrap in place longer than specified. * If you are using this medication on a child's diaper area, do not put tightfitting diapers or plastic pants on the child. This could lead to increased systemic absorption of the drug and a possible increase in side effects. * Be sure to tell your doctor if you are pregnant. If large amounts of this drug are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large oral doses of this type of drug during pregnancy. Also, tell your doctor if you are breastfeeding an infant. If absorbed through the skin, small amounts of flurandrenolide pass into breast milk and may cause decreased growth or a decrease in natural adrenocorticosteroid hormone production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. flurandrenolide (topical) pagetitle flurandrenolide (topical) 03163.TXT Copyright (C) 1993 Publications International, Ltd. flurazepam _________________________ BRAND NAMES (Manufacturers) Dalmane (Roche) flurazepam (various manufacturers) TYPE OF DRUG Benzodiazepine sedative/hypnotic INGREDIENT flurazepam DOSAGE FORM Capsules (15 mg and 30 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Flurazepam is prescribed to treat insomnia (including problems in falling asleep, waking during the night, and early morning wakefulness). It is not clear exactly how this medicine works, but it may relieve insomnia by acting as a depressant of the central nervous system (brain and spinal cord). TREATMENT Flurazepam should be taken ten to 15 minutes before bedtime. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this medication with antacids, since they may slow its absorption from the gastrointestinal tract. Your sleeping problem may improve the first night you take this medication, but it may take two or three nights before the effectiveness of flurazepam is noticed. SIDE EFFECTS Minor. Bitter taste in the mouth, constipation, depression, diarrhea, dizziness, daytime drowsiness, dry mouth, excessive salivation, fatigue, flushing, headache, heartburn, loss of appetite, nausea, nervousness, sweating, or vomiting. As your body adjusts to the medicine, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise more, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy while taking this medication, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, fainting, falling, fever, hallucinations, joint pain, nightmares, palpitations, rash, severe depression, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS Flurazepam interacts with several other types of drugs: 1. To prevent oversedation, this drug should not be taken with alcohol, other sedative drugs, or central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, drugs for seizures, phenothiazine tranquilizers) or with antidepressants. 2. This medication may decrease the effectiveness of levodopa and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 3. Disulfiram, oral contraceptives (birth control pills), isoniazid, and cimetidine can increase the blood levels of flurazepam, which can lead to increased side effects. 4. Concurrent use of rifampin or carbamazepine may decrease the effectiveness of flurazepam. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to flurazepam or other benzodiazepine tranquilizers (such as alprazolam, chlordiazepoxide, clorazepate, diazepam, halazepam, lorazepam, oxazepam, prazepam, temazepam, and triazolam). * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, epilepsy, lung disease, myasthenia gravis, porphyria, mental depression, or mental illness. * Flurazepam can cause drowsiness. Avoid tasks that require alertness, such as driving a car or using potentially dangerous equipment. * This medication has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage of the drug without first consulting your doctor. It is also important not to stop taking this drug suddenly if you have been taking it in large amounts or if you have used it for several weeks. Your doctor may want to reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or with alcohol, however, serious side effects may develop. * The elderly may be at increased risk for side effects, especially daytime drowsiness or confusion. Report any changes in mental status to your doctor immediately. * Be sure to tell your doctor if you are pregnant. This type of medicine has been shown to increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may result in addiction of the fetus--leading to withdrawal side effects at birth. Also, use of this medicine during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the newborn. It is very important to tell your doctor if you are breast-feeding an infant. This medicine can pass into breast milk and cause excessive drowsiness, slowed heartbeat, and breathing difficulties in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Dalmane 15 mg,Dalmane 30 mg 0316301.scf,0316302.scf flurazepam logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle flurazepam 03164.TXT Copyright (C) 1993 Publications International, Ltd. flurbiprofen _________________________ BRAND NAME (Manufacturer) Ansaid (Upjohn) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT flurbiprofen DOSAGE FORM Tablets (50 mg and 100 mg) STORAGE This medication should be stored in a tightly closed container at room temperature away from heat and direct light. Flurbiprofen is used to treat the inflammation (pain, swelling, and stiffness) of arthritis and osteoarthritis. Flurbiprofen has been shown to block the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not yet fully understood how flurbiprofen works. TREATMENT You should take this medication on an empty stomach 30 to 60 minutes before meals or two hours after meals, so that it gets into your bloodstream quickly. However, to decrease stomach irritation, your doctor may want you to take this medication with food or antacids. Always follow your doctor's directions. It may take up to two weeks before you feel the full effects of this medication. Flurbiprofen does not cure arthritis or osteoarthritis, but it will help to control the condition as long as you continue to take it. It is important to take flurbiprofen on schedule and not to miss any doses. If you do miss a dose, take it as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Indigestion, diarrhea, abdominal pain, nausea, constipation, headache, or dizziness. As your body adjusts to the medication, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; difficult or painful urination; palpitations; a problem with hearing, or ringing or buzzing in your ears; skin rash, hives, or itching; stomach pain; swelling of the feet or hands; chest tightness; unexplained sore throat and fever; unusual bleeding or bruising; unusual weight gain; wheezing or difficulty in breathing; or yellowing of the eyes or skin. INTERACTIONS Flurbiprofen interacts with several other medications: 1. Anticoagulants (blood thinners, such as warfarin) can lead to an increase in bleeding complications. 2. Aspirin, other salicylates, and other anti-inflammatory medications can increase stomach irritation. Aspirin may also decrease the effectiveness of flurbiprofen; therefore, it should not be used concurrently with flurbiprofen. 3. Flurbiprofen may block the blood-pressure-lowering effects of beta-blocking drugs such as propranolol. 4. The activity of diuretics (water pills) may be inhibited by flurbiprofen. 5. Flurbiprofen may alter a diabetic patient's response to insulin or oral hypoglycemic agents. Before starting to take flurbiprofen, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Before taking this medication, tell your doctor if you have ever had unusual or allergic reactions to flurbiprofen or to any of the other chemically related drugs (aspirin, other salicylates, diclofenac, diflunisal, fenoprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, or tolmetin). * Tell your doctor if you now have or if you have ever had asthma, bleeding problems, epilepsy, heart disease, high blood pressure, kidney disease, liver disease, mental illness, or Parkinson's disease. * If flurbiprofen makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Because this drug can prolong your bleeding time, it is important to tell your doctor or dentist that you are taking this drug before having surgery or any other medical or dental treatment. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. These should, therefore, be avoided (unless your doctor directs you to do otherwise). * The elderly may be at increased risk for side effects. * Be sure to tell your doctor if you are pregnant or if you are planning to become pregnant. This medication can cause unwanted effects on the heart or blood flow of the fetus. Studies in animals have also shown that this medication, if taken late in pregnancy, may increase the length of pregnancy, prolong labor, or cause other problems during delivery. Also tell your doctor if you are breast-feeding an infant. Small amounts of flurbiprofen can pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. flurbiprofencycl pagetitle flurbiprofen 03165.TXT Copyright (C) 1993 Publications International, Ltd. furosemide _________________________ BRAND NAMES (Manufacturers) Fumide (Everett) furosemide (various manufacturers) Lasix (Hoechst-Roussel) TYPE OF DRUG Diuretic (water pill) and antihypertensive INGREDIENT furosemide DOSAGE FORMS Tablets (20 mg, 40 mg, and 80 mg) Oral solution (10 mg per ml, and 40 mg per 5 ml, with 0.02%, 0.2%, or 11.5% alcohol) STORAGE Furosemide tablets should be stored at room temperature in a tightly closed, light-resistant container. The oral solution should be stored in the refrigerator in a tightly closed, light-resistant container. This medication should never be frozen. Furosemide is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. Furosemide reduces fluid accumulation by increasing the elimination of sodium and water through the kidneys. TREATMENT To decrease stomach irritation, you can take furosemide with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.--this will prevent you from having to get up during the night to urinate. This medication does not cure high blood pressure, but it will help to control the condition, as long as you continue to take it. If you miss a dose of this medication, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Blurred vision, constipation, cramping, diarrhea, dizziness, headache, itching, loss of appetite, muscle spasms, nausea, sore mouth, stomach upset, vomiting, and weakness. As your body adjusts to the medication, these side effects should disappear. This medication will cause an increase in the amount of urine or in your frequency of urination when you first begin to take it. It may also cause you to have an unusual feeling of tiredness. These effects should subside after several days. Furosemide can cause increased sensitivity to sunlight. It is therefore important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. To avoid dizziness and light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, difficulty breathing, dry mouth, fainting, increased thirst, joint pains, loss of appetite, mood changes, muscle cramps, palpitations, rash, ringing in the ears, severe abdominal pain, sore throat, tingling in the fingers or toes, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Furosemide interacts with several other drugs. 1. It can increase the side effects of alcohol, barbiturates, narcotics, cephalosporin antibiotics, chloral hydrate, cortisone-like steroids (such as cortisone, dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, amphotericin B, clofibrate, aspirin, and theophylline. 2. The effectiveness of antigout medications, insulin, and oral antidiabetic medications may be decreased by furosemide. 3. Phenytoin can decrease the absorption and effectiveness of furosemide. 4. Indomethacin can decrease the diuretic effects of furosemide. Before taking furosemide, BE SURE TO TELL YOUR DOCTOR if you are taking any of the medicines listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to diuretics, oral antidiabetic medicines, or sulfonamide antibiotics. * Tell your doctor if you now have, or if you have ever had, kidney disease or problems with urination; diabetes mellitus; gout; liver disease; asthma; pancreas disease; or systemic lupus erythematosus (SLE). * Furosemide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. Your doctor may want to have blood tests performed periodically in order to monitor your blood potassium levels. To help avoid potassium loss, take this medication with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet, however, before discussing it with your doctor. Too much potassium may also be dangerous. * Before having any kind of surgery or other medical or dental treatment, be sure to tell your doctor or dentist that you are taking furosemide. * To avoid dizziness, light-headedness, or fainting, get up from a sitting or lying position slowly; and avoid standing for long periods of time. You should also avoid strenuous exercise and prolonged exposure to hot weather. * While taking this medication, limit your intake of alcoholic beverages, in order to prevent dizziness and light-headedness. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control, or for cough, cold, asthma, allergy, or sinus problems, unless you first check with your doctor. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Therefore, blood sugar should be monitored carefully with blood or urine tests when treatment with this medication is started. * Be sure to tell your doctor if you are pregnant. This drug crosses the plaucenta. Although studies in humans have not been completed, adverse effects have been observed on the fetuses of animals who received large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of furosemide pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Lasix 0316501.scf) furosemideq logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle furosemide 03166.TXT Copyright (C) 1993 Publications International, Ltd. gemfibrozil _________________________ BRAND NAME (Manufacturer) Lopid (Parke-Davis) TYPE OF DRUG Antihyperlipidemic (lipid-lowering drug) INGREDIENT gemfibrozil DOSAGE FORM Tablets (600 mg) STORAGE Gemfibrozil capsules should be stored at room temperature in a tightly closed container. Gemfibrozil is used to treat hyperlipidemia (high blood fat levels) in patients who have not responded to diet, weight reduction, exercise, and control of blood sugar. It is not clear how gemfibrozil lowers blood lipid levels, but it is thought to decrease the body's production of certain fats. TREATMENT In order to maximize its effectiveness, gemfibrozil should be taken 30 minutes before meals. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose; just return to your regular schedule. Do not double the dose. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, dry mouth, gas, headache, insomnia, loss of appetite, nausea, and stomach upset. These side effects should disappear in several days, as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (bran, salads, fresh fruits and vegetables, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down awhile; get up slowly, and be careful on stairs. To help relieve mouth dryness, chew sugarless gum or suck on ice chips. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about back pain, blurred vision, fatigue, muscle cramps, rash, swollen or painful joints, tingling sensations, or yellowing of the eyes or skin. INTERACTIONS Gemfibrozil can increase the effects of oral anticoagulants (blood thinners, such as warfarin), which can lead to bleeding complications. BE SURE TO TELL YOUR DOCTOR if you are already taking a medication of this type. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to gemfibrozil. * Before starting to take this medication, be sure to tell your doctor if you now have, or if you have ever had, biliary disorders; gallstones or gallbladder disease; kidney disease; or liver disease. * If this drug makes you dizzy or blurs your vision, do not take part in activities that require alertness, such as driving a car or operating potentially dangerous equipment. * Do not stop taking this medication unless you first check with your doctor. Stopping the drug abruptly may lead to a rapid increase in blood lipid (fats) and cholesterol levels. Your doctor may therefore want to start you on a special diet or another medication when gemfibrozil is discontinued. * Large doses of gemfibrozil administered to animals for prolonged periods of time have been associated with benign and malignant cancers. This association has not been observed in humans. * Be sure to tell your doctor if you are pregnant. Although gemfibrozil appears to be safe during pregnancy, extensive studies in humans have not yet been completed. Also, tell your doctor if you are breast-feeding an infant. It is not known whether or not gemfibrozil passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Lopid 0316601.scfI gemfibrozil logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle gemfibrozil 03135.TXT Copyright (C) 1993 Publications International, Ltd. dipyridamole _________________________ BRAND NAMES (Manufacturers) dipyridamole (various manufacturers) Persantine (Boehringer Ingelheim) Pyridamole (Major) TYPE OF DRUG Antianginal INGREDIENT dipyridamole DOSAGE FORM Tablets (25 mg, 50 mg, and 75 mg) STORAGE Store at room temperature in a tightly closed container. Dipyridamole is used to prevent chronic chest pain (angina) due to heart disease. It relieves chest pain by dilating the blood vessels of the heart and providing more oxygen to the heart muscle. Dipyridamole is also used to prevent blood clot formation, especially in patients who have artificial heart valves. TREATMENT You should take this medication on an empty stomach with a full glass of water one hour before or two hours after a meal. If this drug upsets your stomach, check with your doctor to see if you can take it with food. The full benefits of this medication may not become apparent for up to two to three months. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is within four hours of your next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Dizziness, fatigue, flushing, headache, nausea, stomach cramps, or weakness. These side effects should disappear as your body adjusts to the medication. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fainting, skin rash, or a worsening of your chest pain. INTERACTIONS Dipyridamole should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to dipyridamole. * Tell your doctor if you have ever had low blood pressure. * The effectiveness of dipyridamole in controlling chronic angina is controversial. This drug is more frequently prescribed to prevent blood clot formation, although use of dipyridamole for this purpose has not yet been approved by the Food and Drug Administration (FDA). * This drug does not stop chest pain from angina that has already begun. It is used only to prevent such pain * If this drug makes you dizzy, do not take part in any activity that requires alertness. * Before having any surgery or other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe, extensive studies in humans during pregnancy have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of dipyridamole pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. dipyridamoleINFO pagetitle dipyridamole 03136.TXT Copyright (C) 1993 Publications International, Ltd. disopyramide _________________________ BRAND NAMES (Manufacturers) disopyramide (various manufacturers) Napamide (Major) Norpace (Searle) Norpace CR (Searle) TYPE OF DRUG Antiarrhythmic INGREDIENT disopyramide DOSAGE FORMS Capsules (100 mg and 150 mg) Sustained-release capsules (100 mg and 150 mg) STORAGE Disopyramide capsules should be stored at room temperature in tightly closed containers. Disopyramide is used for the treatment of heart arrhythmias. It corrects irregular heartbeats and helps to achieve a more normal rhythm. TREATMENT Disopyramide can be taken with or without food. Check with your doctor for a recommendation. Try to take disopyramide at the same time(s) each day. This medication works best if the amount of the drug in your bloodstream is kept at a constant level. It is best, therefore, to take this medication at evenly spaced intervals day and night. For example, if you are to take it three times per day, the doses should be spaced eight hours apart. Try not to miss any doses of this medication. If you do miss a dose and remember within two hours, take the missed dose as soon as possible. If more than two hours have passed, do not take the missed dose; just wait for your next scheduled dose. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain; aches and pain; blurred vision; constipation; decreased sweating; diarrhea; dizziness; dry mouth, eyes, and throat; fatigue; gas; headache; impotence; loss of appetite; nausea; nervousness; or vomiting. These side effects should disappear as you adjust to the drug. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position. To relieve mouth dryness, suck on ice chips or a piece of hard candy or chew sugarless gum. "Artificial tears" eye drops may help to relieve eye dryness. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain; depression; difficult or painful urination; enlarged, painful breasts (in both sexes); fainting; fever; muscle pain; muscle weakness; numbness or tingling sensations; palpitations; rash; shortness of breath; sore throat; swelling of the feet or ankles; weight gain; or yellowing of the eyes or skin. INTERACTIONS Disopyramide interacts with several other medications: 1. Phenytoin, rifampin, barbiturates, and glutethimide can decrease its effectiveness. 2. The combination of alcohol and disopyramide can lead to dizziness and hypoglycemia (low blood sugar levels). You should, therefore, avoid drinking alcoholic beverages while you are taking this medication. 3. The concurrent use of disopyramide and beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, and timolol) can have additive negative effects on the heart. 4. Disopyramide may interact with verapamil. Before starting to take disopyramide, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to disopyramide. * Tell your doctor if you now have or if you have ever had glaucoma, hypoglycemia (low blood sugar levels), hypokalemia (low blood potassium levels), kidney disease, liver disease, myasthenia gravis, urinary retention, or an enlarged prostate gland. * If this drug makes you dizzy or drowsy or blurs your vision, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * This medication can decrease sweating and heat release from the body. You should, therefore, avoid getting overheated by strenuous exercise in hot weather and should avoid taking hot baths, showers, and saunas. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Disopyramide can cause hypoglycemia. Signs of hypoglycemia include anxiety, chills, pale skin, headache, hunger, nausea, nervousness, shakiness, sweating, and weakness. If you experience this reaction, eat or drink something containing sugar, and CONTACT YOUR DOCTOR. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. It is known that disopyramide passes into breast milk. If you are breast-feeding an infant while being treated with this medication, tell your doctor. Unless directed to do otherwise, breast-feeding is not recommended during treatment with this medication. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Norpace 0313601.scf disopyramide logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle disopyramide 03137.TXT Copyright (C) 1993 Publications International, Ltd. disulfiram _________________________ BRAND NAMES (Manufacturers) Antabuse (Wyeth-Ayerst) disulfiram (various manufacturers) TYPE OF DRUG Antialcoholic INGREDIENT disulfiram DOSAGE FORM Tablets (250 mg and 500 mg) STORAGE Disulfiram should be stored at room temperature in a tightly closed, light-resistant container. Disulfiram is used as an aid to treat alcoholics who are strongly motivated to remain sober. Disulfiram blocks the breakdown of alcohol by the body, leading to an accumulation of the chemical acetaldehyde in the bloodstream. Buildup of acetaldehyde in the body can lead to a severe and very unpleasant reaction after alcohol consumption. Alcohol must, therefore, be avoided to prevent this reaction. TREATMENT Disulfiram can be taken either on an empty stomach or with food or milk (as directed by your doctor). The tablets can also be crushed and mixed with beverages (nonalcoholic). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Drowsiness, fatigue, headache, metallic or garlic-like aftertaste, and restlessness. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, impotence, joint pain, mental disorders, skin rash, tingling sensations, or yellowing of the eyes or skin. INTERACTIONS Disulfiram interacts with several other types of medications: 1. It can increase the blood levels and side effects of diazepam, chlordiazepoxide, phenytoin, and oral anticoagulants (blood thinners, such as warfarin). 2. Concurrent use of disulfiram with isoniazid, antidepressants, metronidazole, or marijuana can lead to severe reactions. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. Also, be sure to tell your doctor if you use marijuana. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to disulfiram, rubber, pesticides, or fungicides. * Before starting to take this medication, be sure to tell your doctor if you have ever had brain damage, dermatitis, diabetes mellitus, epilepsy, heart disease, kidney disease, liver disease, mental disorders, or thyroid disease. * It is important not to drink or to use any alcohol-containing preparations, medications, or foods (including beer, elixirs, tonics, wine, liquor, vinegar, sauces, after-shave lotions, liniments, or colognes) while taking this medication. Be sure to check the labels on any over-the-counter (nonprescription) products for their alcohol content, especially cough syrups, mouthwashes, and gargles. * It is important that you understand the serious nature of the disulfiram-alcohol reaction. If you take disulfiram within 12 hours after ingesting alcohol or drink alcohol within two weeks after your last dose of disulfiram, you may experience blurred vision, chest pain, confusion, dizziness, fainting, flushing, headache, nausea, pounding heartbeat, sweating, vomiting, or weakness. The reaction usually occurs within five to ten minutes of drinking alcohol and can last from half an hour to two hours, depending on the dose of disulfiram and the quantity of alcohol ingested. * If this drug makes you drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. Also be careful when going up and down stairs. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported in both animals and humans whose mothers received disulfiram during pregnancy. It must also be kept in mind that alcohol, even in small amounts, can cause a variety of birth defects when ingested during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known if disulfiram passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. disulfiramps, 7 pagetitle disulfiram 03138.TXT Copyright (C) 1993 Publications International, Ltd. doxepin _________________________ BRAND NAMES (Manufacturers) Adapin (Pennwalt) doxepin (various manufacturers) Sinequan (Fisons) TYPE OF DRUG Tricyclic antidepressant INGREDIENT doxepin DOSAGE FORMS Capsules (10 mg, 25 mg, 50 mg, 75 mg, 100 mg, and 150 mg) Oral concentrate (10 mg per ml) STORAGE Doxepin capsules and oral concentrate should be stored at room temperature in tightly closed containers. This medication should never be frozen. Doxepin is used to relieve the symptoms of mental depression. This medication belongs to a group of drugs referred to as the tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals necessary for nerve transmission in the brain. TREATMENT This medication should be taken exactly as your doctor prescribes. You can take it with food to lessen the chance of stomach irritation (unless your doctor tells you to do otherwise). Each dose of the oral concentrate should be diluted in at least four ounces (half a glass) of water, milk, or fruit juice just prior to administration. Measure the correct amount carefully with the dropper provided. DO NOT mix the medication with grape juice or with carbonated beverages, since they may decrease the medicine's effectiveness. If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular dosing schedule. If, however, the dose you missed was a once-a-day bedtime dose, do not take that dose in the morning; check with your doctor instead. If the dose is taken in the morning, it may cause some unwanted side effects. Never double the dose. The antidepressant effects of therapy with this medication may not become apparent for two or three weeks. SIDE EFFECTS Minor. Blurred vision, constipation, cramps, diarrhea, dizziness, drowsiness, dry mouth, fatigue, indigestion, insomnia, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. As your body adjusts to the medication, these side effects should disappear. This drug may cause increased sensitivity to sunlight. Therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, anxiety, chest pain, confusion, convulsions, difficulty in urinating, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, headaches, impotence, mood changes, mouth sores, nervousness, nightmares, numbness in the fingers or toes, palpitations, ringing in the ears, seizures, skin rash, sleep disorders, sore throat, a tendency to bleed or bruise, tremors, uncoordinated movements or balance problems, or yellowing of the eyes or skin. INTERACTIONS Doxepin interacts with a number of other types of medications: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with other antidepressants. 2. Doxepin may decrease the effectiveness of antiseizure medications and may block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Oral contraceptives (birth control pills) and estrogen-containing drugs can increase the side effects and reduce the effectiveness of the tricyclic antidepressants (including doxepin). 4. Cimetidine can decrease the elimination of doxepin from the body, which can increase the possibility that side effects will occur. 5. Tricyclic antidepressants may increase the side effects of thyroid medications and over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, and diet medications. 6. The concurrent use of this drug and monoamine oxidase (MAO) inhibitors should be avoided, because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to any medications, especially to doxepin or any of the other tricyclic antidepressants (amitriptyline, imipramine, trimipramine, amoxapine, protriptyline, desipramine, maprotiline, and nortriptyline). * Be sure to tell your doctor if you have a history of alcoholism or if you have ever had asthma, high blood pressure, liver or kidney disease, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Do not stop taking this drug suddenly. Abruptly stopping it can cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The effects of this medication may last as long as seven days after you have stopped taking it, so continue to observe all precautions during that period. * Be sure to tell your doctor if you are pregnant. The effects of this drug during pregnancy have not been thoroughly studied in humans. Studies in animals have shown that this medication can cause side effects to the fetus if given to the mother in large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug can pass into breast milk and may cause unwanted effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Sinequan 0313801.scf doxepin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField t L q Additional Materials pagetitle doxepin 03139.TXT Copyright (C) 1993 Publications International, Ltd. doxycycline _________________________ BRAND NAMES (Manufacturers) AK-Ramycin (Akorn) AK-Ratabs (Akorn) Doryx (Parke-Davis) Doxy-Caps (Edwards) Doxychel Hyclate (Rachelle) doxycycline (various manufacturers) Doxy-Lemmon (Lemmon) Vibramycin Hyclate (Pfizer) Vibra Tabs (Pfizer) TYPE OF DRUG Tetracycline antibiotic INGREDIENT doxycycline DOSAGE FORMS Tablets (50 mg and 100 mg) Capsules (50 mg and 100 mg) Capsules, coated pellets (100 mg) Oral suspension (25 mg per 5-ml spoonful) Oral syrup (50 mg per 5-ml spoonful) STORAGE Doxycycline tablets, capsules, oral suspension, and oral syrup should be stored at room temperature in tightly closed, light-resistant containers. Any unused portion of the suspension should be discarded after 14 days because the drug loses its potency after that period. This medication should never be frozen. Doxycycline is used to treat a wide variety of bacterial infections and to prevent or treat traveler's diarrhea. It acts by inhibiting the growth of bacteria. Doxycycline kills susceptible bacteria, but it is not effective against viruses or fungi. TREATMENT To avoid stomach upset, you can take this drug with food (unless your doctor directs you to do otherwise). The suspension should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose of the oral suspension or oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary teaspoon is not accurate. Do not mix the oral syrup form of this drug with other substances unless so directed by your doctor. Doxycycline works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular dosing schedule. Try not to skip any doses. It is very important that you take this drug for the entire time prescribed, even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria can continue to grow, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, discoloration of the nails, dizziness, loss of appetite, nausea, stomach cramps and upset, or vomiting. These side effects should disappear as your body adjusts to the medication. Doxycycline can increase your sensitivity to sunlight. You should, therefore, try to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, joint pain, mouth irritation, rash, rectal or vaginal itching, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Doxycycline interacts with other types of medications: 1. It can increase the absorption of digoxin, which may lead to digoxin toxicity. 2. The gastrointestinal side effects (nausea, vomiting, stomach upset) of theophylline may be increased by doxycycline. 3. The dosage of oral anticoagulants (blood thinners, such as warfarin) may need to be adjusted when this medication is started. 4. Doxycycline may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking doxycycline. Discuss this with your doctor. 5. Barbiturates, carbamazepine, phenytoin, and antacids can lower the blood levels of doxycycline, decreasing its effectiveness. 6. Iron can bind to doxycycline in the gastrointestinal tract, which can decrease its absorption and, therefore, its effectiveness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to doxycycline, oxytetracycline, tetracycline, or minocycline. * Tell your doctor if you now have or if you have ever had kidney or liver disease. * Doxycycline can affect tests for syphilis; tell your doctor you are taking this medication if you are also being treated for this disease. * Make sure that your prescription for this medication is marked with the drug's expiration date. The drug should be discarded after the expiration date. If doxycycline is used after it has expired, serious side effects (especially to the kidneys) could result. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant or if you are breast-feeding an infant. Doxycycline should not be used during pregnancy and breast-feeding. It crosses the placenta and passes into breast milk. This drug can cause permanent discoloration of the teeth and can inhibit tooth and bone growth if used during their development. Also, this drug should not be used by children less than eight years old. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Vibramycin Hyclate,Vibra Tabs 0313901.scf,0313902.scf doxycycline logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials one,{ pagetitle doxycycline 03140.TXT Copyright (C) 1993 Publications International, Ltd. enalapril _________________________ BRAND NAME (Manufacturer) Vasotec (Merck Sharp & Dohme) TYPE OF DRUG Antihypertensive INGREDIENT enalapril DOSAGE FORM Tablets (2.5 mg, 5 mg, 10 mg, and 20 mg) STORAGE Store enalapril at room temperature in a tightly closed container. Enalapril is used to treat high blood pressure. It is a vasodilator (it widens the blood vessels) that acts by blocking the production of chemicals that may be responsible for constricting or narrowing the blood vessels. TREATMENT Enalapril can be taken either on an empty stomach or with food if it causes stomach irritation. To become accustomed to taking this medication, try to take it at the same time(s) every day. It may be several weeks before you notice the full effects of this medication. If you miss a dose of enalapril, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. Enalapril does not cure high blood pressure, but it will help to control the condition as long as you continue to take the medication. SIDE EFFECTS Minor. Abdominal pain, cough, diarrhea, dizziness, drowsiness, fatigue, headache, heartburn, insomnia, nausea, nervousness, sweating, or vomiting. These side effects should disappear as your body adjusts to the medication. To avoid dizziness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by alternately pushing one foot against the floor while lifting the other foot slightly. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain; difficulty in breathing; fainting; fever; itching; light-headedness (especially during the first few days); muscle cramps; palpitations; rash; sore throat; swelling of the face, eyes, lips, or tongue; tingling in the fingers or toes; or yellowing of the eyes or skin. INTERACTIONS Enalapril interacts with several other types of medications: 1. Diuretics (water pills) and other antihypertensive medications can cause an excessive drop in blood pressure when they are combined with enalapril (especially with the first dose). 2. The combination of enalapril with spironolactone, triamterene, amiloride, potassium supplements, or salt substitutes can lead to hyperkalemia (dangerously high levels of potassium in the bloodstream). Before starting to take enalapril, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to enalapril. * Tell your doctor if you now have or if you have ever had blood disorders, heart failure, renal disease, or systemic lupus erythematosus. * Excessive perspiration, dehydration, or prolonged vomiting or diarrhea can lead to an excessive drop in blood pressure while you are taking this medication. Contact your doctor if you have any of these symptoms. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control or for asthma, sinus, cough, cold, or allergy problems unless you first check with your doctor. * Be sure to tell your doctor if you are pregnant. Drugs in the same class as enalapril have been shown to cause birth defects, including kidney damage, low blood pressure, improper skull development, and death, when taken in the second and third trimesters. Also, tell your doctor if you are breast-feeding an infant. It is not yet known if enalapril passes into human breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. enalapril pagetitle enalapril 03141.TXT Copyright (C) 1993 Publications International, Ltd. epinephrine (ophthalmic) _________________________ BRAND NAMES (Manufacturers) Epifrin (Allergan) Epinal (Alcon) Eppy/N (Sola/Barnes-Hind) Glaucon (Alcon) TYPE OF DRUG Antiglaucoma ophthalmic solution INGREDIENT epinephrine (adrenaline) DOSAGE FORM Ophthalmic solution (0.1%, 0.25%, 0.5%, 1%, and 2%) STORAGE Store at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. The solution should be discarded if it turns brown or cloudy because this indicates deterioration and loss of potency. Epinephrine (ophthalmic) is used to treat glaucoma. It lowers the pressure in the eye by decreasing the production of aqueous humor (a particular fluid in the eye) and increasing its drainage. TREATMENT Wash your hands with soap and water before applying this medication. In order to avoid contamination of the eye drops, be careful not to touch the tube portion of the dropper or let it touch your eye; and DO NOT wipe off or rinse the dropper after each use. To apply the eye drops, tilt your head back and pull down your lower eyelid with one hand to make a pouch below the eye. Drop the prescribed amount of medicine into this pouch and slowly close your eyes. Try not to blink. Keep your eyes closed, and place one finger at the corner of the eye next to your nose for a minute or two, applying slight pressure (this is done to prevent loss of the medication through the duct that drains fluid from the surface of the eye into the nose and throat). Then wipe away any excess with a clean tissue. Since the drops are somewhat difficult to apply, you may want to have someone else apply them for you. If more than one type of eye drop has been prescribed for you, wait at least five minutes after applying epinephrine before using the other eye medication (to give the epinephrine time to work). However, if you are also using an eye drop that constricts your pupils, check with your doctor to see which drug should be applied first. If you miss a dose of epinephrine, apply the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not apply the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Brow ache, headache, or transitory stinging on initial application. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly troublesome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, eye pain, fainting, palpitations, sweating, or trembling. INTERACTIONS Epinephrine interacts with several other types of medications: 1. Concurrent use of epinephrine and monoamine oxidase (MAO) inhibitors or tricyclic antidepressants can lead to serious side effects. At least 21 days should, therefore, separate doses of epinephrine and either of these types of medications. 2. Digoxin can increase the side effects of epinephrine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially anu of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially epinephrine. * Before starting to take this medication, be sure to tell your doctor if you now have or have ever had diabetes mellitus, heart or blood vessel disease, high blood pressure, a stroke, or thyroid disease. * If this medication blurs your vision, try to avoid activities that require visual acuity, such as driving a car or operating potentially dangerous equipment. * Epinephrine can cause discoloration of soft contact lenses. If you currently wear soft contact lenses, you should discuss with your doctor whether your medication or your contact lenses should be changed. * Be sure to ell your doctor if you are pregnant. Although epinephrine (ophthalmic) appears to be safe during pregnancy, studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether epinephrine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. epinephrine (ophthalmic) pagetitle epinephrine (ophthalmic) 03142.TXT Copyright (C) 1993 Publications International, Ltd. ergocalciferol (vitamin D) _________________________ BRAND NAMES (Manufacturers) Calciferol (Schwarz Pharma Kremers-Urban) Drisdol (Winthrop) vitamin D (various manufacturers) TYPE OF DRUG Vitamin INGREDIENT ergocalciferol DOSAGE FORMS Tablets (50,000 units) Capsules (50,000 units) Oral liquid (8,000 units per ml) [*] * The oral liquid is available without a prescription. STORAGE Store at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. Ergocalciferol is used to treat rickets, hypophosphatemia (low blood levels of phosphate), and hypoparathyroidism (underactive parathyroid gland). This medication is converted by the liver and kidney to the active form of vitamin D, a vitamin essential to many body systems (including bone and tooth structure, regulation of blood calcium levels, and heart and muscle contraction). TREATMENT Ergocalciferol can be taken either on an empty stomach or with food or milk (as directed by your doctor). Each dose of the oral liquid form of this medication should be measured carefully with the dropper provided. The liquid can then be taken directly or mixed with fruit juice, cereal, or other foods. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. None, at the dosages normally prescribed. Major. The side effects associated with ergocalciferol therapy are usually the result of too much medication (vitamin D intoxication). Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, bone pain, constipation, dry mouth, headache, increased thirst, increased urination, irritability, loss of appetite, metallic taste in the mouth, mental disorders, muscle pain, nausea, palpitations, runny nose, vomiting, weakness, or weight loss. INTERACTIONS Cholestyramine, colestipol, and mineral oil can decrease the absorption of ergocalciferol from the gastrointestinal tract, decreasing its effectiveness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to ergocalciferol (vitamin D), calcitriol, calcifediol, or dihydrotachysterol. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had heart or blood vessel disease, hypercalcemia (high blood levels of calcium), hyperphosphatemia (high blood levels of phosphate), vitamin D intoxication, or sarcoidosis. * Before taking any over-the-counter (nonprescription) products that contain calcium, phosphates, magnesium, or vitamin D, check with your doctor. These ingredients can increase the side effects of ergocalciferol. * Some forms of this medication contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type symptoms (fainting, shortness of breath, rash) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Although the effects of this medication have not been thoroughly studied during human pregnancy, animal studies have shown that this medication can cause side effects to the fetus if given to the mother in large doses during pregnancy. Tell your doctor if you are breast-feeding an infant. It is not known if this drug passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ergocalciferol (vitamin D) AlsG pagetitle ergocalciferol (vitamin D) 03143.TXT Copyright (C) 1993 Publications International, Ltd. ergoloid mesylates _________________________ BRAND NAMES (Manufacturers) ergoloid mesylates (various manufacturers) Gerimal (Rugby) Hydergine (Sandoz) TYPE OF DRUG Vasodilator INGREDIENT ergoloid mesylates DOSAGE FORMS Capsules, liquid (1 mg) Oral tablets (0.5 mg and 1 mg) Sublingual tablets (0.5 mg and 1 mg) Oral liquid (1 mg per ml, with 30% alcohol) STORAGE Ergoloid mesylates capsules, tablets, and oral liquid should be stored at room temperature in tightly closed, light-resistant containers. Never freeze this medication. This medication is used to reduce the symptoms associated with senility. It is not clear how ergoloid mesylates work, but it is thought that they act by dilating (widening) the blood vessels, thus increasing blood flow to the brain. TREATMENT In order to avoid stomach irritation, you can take the capsules, tablets, or oral liquid with food or milk. Be sure to measure the dose of the liquid form of this medication carefully with the dropper provided. The sublingual form of this medication must be placed under the tongue and allowed to dissolve completely. Try not to swallow for as long as possible, because the drug is more completely absorbed through the lining of the mouth than it is from the stomach. Do not drink any liquid, eat, or smoke for at least ten minutes after placing the tablet under the tongue. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. It may take three or four weeks for the effects of this medication to become apparent. SIDE EFFECTS Minor. Blurred vision, dizziness, drowsiness, flushing, headache, irritation under the tongue (with the sublingual form only), light-headedness, loss of appetite, nasal congestion, nausea, stomach cramps, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about a slowed heart rate. INTERACTIONS Ergoloid mesylates should not interact with other medications if they are used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to ergoloid mesylates or ergot alkaloids (such as ergonovine, ergotamine, or bromocriptine). * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had liver disease, low blood pressure, porphyria, severe mental illness, or a slowed heart rate. * Ergoloid mesylates may lessen your ability to adjust to the cold. Therefore, since you may experience increased sensitivity, do not expose your body to very cold temperatures for prolonged periods. * Your doctor may want you to take your pulse daily while you are using this medication. Contact your doctor if your pulse becomes slower than normal or if it drops below 50 beats per minute. * If this drug makes you dizzy or drowsy or blurs your vision, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Also, be careful going up and down stairs. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, shortness of breath, fainting) in certain susceptible individuals. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Hydergine 0314301.scf ergoloid mesylates logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle ergoloid mesylates 03144.TXT Copyright (C) 1993 Publications International, Ltd. ergonovine _________________________ BRAND NAMES (Manufacturers) ergonovine maleate (various manufacturers) Ergotrate Maleate (Lilly) TYPE OF DRUG Uterine stimulant INGREDIENT ergonovine DOSAGE FORM Tablets (0.2 mg) STORAGE Ergonovine should be stored at room temperature in a tightly closed container. Ergonovine is used to prevent or treat postpartum (immediately after delivery) or postabortion uterine bleeding. This medication is usually administered for only a short period of time (usually 48 hours). It acts directly on the uterus to cause contractions and to constrict blood vessels. TREATMENT Ergonovine tablets can be taken either on an empty stomach or with food or milk (as directed by your doctor). For more rapid effect, the tablet can also be placed under the tongue to dissolve. If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, headache, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, convulsions, excitement, hallucinations, hives, itching, numbness or coldness of the fingers or toes, ringing in the ears, shortness of breath, skin rash, or tingling sensations--even if these side effects appear or continue after you stop taking ergonovine. INTERACTIONS Ergonovine should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to ergonovine or to any other ergot alkaloid (bromocriptine, ergotamine, ergoloid mesylates). * Before starting to take this medication, tell your doctor if you now have or if you have ever had hypocalcemia, heart disease, high blood pressure, kidney or liver disease, or peripheral vascular disease (poor circulation). * Be sure to tell your doctor if you are breast-feeding an infant. Ergonovine can pass into breast milk and may cause side effects in the nursing infant. It can also decrease milk production. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ergonovineter pagetitle ergonovine 03145.TXT Copyright (C) 1993 Publications International, Ltd. ergotamine _________________________ BRAND NAMES (Manufacturers) Ergostat (Parke-Davis) Medihaler Ergotamine (3M) TYPE OF DRUG Antimigraine (vasoconstrictor) INGREDIENT ergotamine DOSAGE FORMS Sublingual tablets (2 mg) Aerosol (0.36 mg per spray) STORAGE This medication should be stored at room temperature in tightly closed, light-resistant containers. The container of the aerosol is pressurized; it should, therefore, never be punctured or broken. It should also be stored away from heat and direct sunlight. This medication is used to treat migraine and cluster headaches. These headaches are thought to be caused by an increase in the diameter of the blood vessels in the head, which results in increased blood flow, increased pressure, and pain. Ergotamine is a vasoconstrictor; it acts by constricting (narrowing) the blood vessels. TREATMENT Take this medication as soon as you notice your migraine headache symptoms. If you wait until the headache is severe, the drug takes longer to work and may not be as effective. After you take either of these forms of ergotamine, you should try to lie down in a quiet, dark room for at least two hours (in order to help the medication work). The drug usually takes effect in 30 to 60 minutes. It is very important that you understand how often you can repeat a dose of this medication during an attack (usually every 30 to 60 minutes for the sublingual tablets, and every five minutes for the aerosol spray) and the maximum amount of medication you can take per day (usually three sublingual tablets or six inhalations). Five is generally the maximum number of sublingual tablets and 15 is about the maximum number of inhalations that can be taken in any one-week period. CHECK WITH YOUR DOCTOR if you have any questions. The sublingual tablets should be placed under your tongue. DO NOT swallow these tablets--they are more efficiently absorbed through the lining of the mouth than from the gastrointestinal tract. Try not to eat, drink, chew, or smoke while the tablet is dissolving. The aerosol form of this medication comes packaged with instructions for use. Read the directions carefully; if you have any questions, check with your doctor or pharmacist. The aerosol can should be shaken well just before each dose is sprayed. The contents tend to settle on the bottom of the container, so it should be shaken to disperse the medication and equalize the doses. The container provides about 60 measured sprays. If you are on prolonged treatment with this drug and you miss a dose, take it as soon as you remember. Wait four hours to take the next dose. It is very important that you consult your doctor before you discontinue using this drug. Your doctor may want to reduce your dosage gradually. SIDE EFFECTS Minor. Diarrhea, dizziness, headache, nausea, vomiting, or sensation of cold hands and feet with MILD numbness or tingling. These side effects should disappear as your body adjusts to the medication. The aerosol form of ergotamine can cause hoarseness or throat irritation. Gargling or rinsing your mouth out with water after taking the dose may help prevent this side effect. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain; coldness, numbness, pain, tingling, or dark discoloration of the fingers or toes; confusion; fluid retention; itching; localized swelling; muscle pain; severe abdominal pain and swelling; or unusual weakness. INTERACTIONS Ergotamine interacts with several other types of medications: 1. Ergotamine interacts with amphetamines, ephedrine, epinephrine (adrenaline), pseudoephedrine, erythromycin, and troleandomycin. Such combinations can lead to increases in blood pressure or increased risk of adverse reaction to ergotamine. 2. Do not drink alcoholic beverages while you are taking this medication. Since alcohol dilates (widens) the blood vessels (which are already dilated during migraine headaches), drinking will only make your headache worse. 3. Nicotine and cocaine decrease the effectiveness of ergotamine and, therefore, make the headache worse. 4. The caffeine in tea, coffee, and cola drinks also interacts with this medication. It may actually help to relieve your headache. BE SURE TO TELL YOUR DOCTOR about any medications or substances you are currently taking or using, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to ergotamine or other ergot alkaloids (such as ergonovine or bromocriptine). * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had heart or blood vessel disease, high blood pressure, infections, kidney disease, liver disease, or thyroid disease. * Avoid any foods to which you are allergic--they may make your headache worse. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Try to avoid exposure to cold. Since this drug acts by constricting blood vessels throughout the body, your fingers and toes may become especially sensitive. * Elderly patients are more sensitive to the effects of ergotamine. Consult your doctor if the side effects become bothersome. * This medication should not be taken for longer periods or in higher doses than recommended by your doctor. Extended use of this drug can lead to serious side effects. In addition, tolerance can develop--higher doses would be required to obtain the same beneficial effects (at the same time increasing the risk of side effects). * Be sure to tell your doctor if you are pregnant. Ergotamine can cause contractions of the uterus, which can harm the developing fetus. This drug should not be used during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Ergotamine passes into breast milk and may cause vomiting, diarrhea, or convulsions in the nursing infant. MONEY-SAVING TIP Save the inhaler piece from the aerosol container. Refill units, which are less expensive, are available. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ergotaminetape pagetitle ergotamine 03146.TXT Copyright (C) 1993 Publications International, Ltd. ergotamine and caffeine combination _________________________ BRAND NAMES (Manufacturers) Cafergot (Sandoz) Cafetrate (Schein) Wigraine (Organon) TYPE OF DRUG Antimigraine (vasoconstrictor) INGREDIENTS ergotamine and caffeine DOSAGE FORMS Tablets (1 mg ergotamine, 100 mg caffeine) Suppositories (2 mg ergotamine, 100 mg caffeine) STORAGE Ergotamine and caffeine combination tablets should be stored at room temperature in tightly closed, light-resistant containers. They should also be stored away from heat and direct sunlight. The suppository form of this drug should be kept in the refrigerator (never frozen) in a closed container. This medication is used to treat migraine and cluster headaches. These headaches are thought to be caused by an increase in the diameter of the blood vessels in the head, which results in increased blood flow, increased pressure, and pain. Ergotamine is a vasoconstrictor: it acts by constricting (narrowing) the blood vessels. Caffeine helps in both the absorption of the drug from the gastrointestinal tract and in constricting blood vessels. TREATMENT It is best to take this medication as soon as you notice your migraine headache symptoms. If you wait until the headache becomes severe, the drug takes longer to work and may not be as effective. After you take either of these forms of ergotamine and caffeine combination, you should try to lie down in a quiet, dark room for at least two hours (in order to help the medication work). The drug usually takes effect within 30 to 60 minutes. It is very important that you understand how often you can repeat a dose of this medication during an attack (usually every 30 to 60 minutes) and the maximum number of tablets you can take per day (usually six tablets). Ten is generally the maximum number of tablets that can be taken in any one-week period. CHECK WITH YOUR DOCTOR if you have any questions. The tablets should be swallowed with liquid. Take one tablet when you first notice your migraine headache symptoms. If necessary, take a second dose 30 to 60 minutes later to relieve your headache. To use the suppository form of this medication, first unwrap it and moisten it slightly with water (if the suppository is too soft to insert, run cold water over it or refrigerate it for 30 minutes before you unwrap it). Lie down on your left side, with your right knee bent. Push the suppository well into the rectum with your finger. Try to avoid having a bowel movement for at least an hour to give the medication time to be absorbed. Insert one suppository when you first notice your migraine symptoms. If necessary, insert a second suppository one hour later for full relief of your migraine headache. Five is generally the maximum number of suppositories that can be taken in a one-week period. If you are on prolonged treatment with this drug and you miss a dose, take it as soon as you remember. Wait four hours to take the next dose. It is very important that you consult your doctor before you discontinue using ergotamine and caffeine combination. Your doctor may want to reduce your dosage gradually. SIDE EFFECTS Minor. Diarrhea, dizziness, headache, nausea, nervousness or jitters, vomiting, or sensation of cold hands and feet with MILD numbness or tingling. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain; coldness, numbness, pain, tingling, or dark discoloration of the fingers or toes; confusion; fluid retention; itching; localized swelling; muscle pain; severe abdominal pain and swelling; severe nausea or vomiting; or unusual weakness. INTERACTIONS Ergotamine and caffeine combination interacts with several other types of medications: 1. Ergotamine interacts with amphetamines, ephedrine, epinephrine (adrenaline), pseudoephedrine, erythromycin, and troleandomycin. Such combinations can lead to increases in blood pressure or increased risk of adverse reaction to ergotamine. 2. Do not drink alcoholic beverages while you are taking this medication. Since alcohol dilates (widens) the blood vessels, drinking will only make your headache worse. 3. Tobacco and cocaine decrease the effectiveness of ergotamine and can make the headache worse. 4. The caffeine in tea, coffee, and cola drinks also interacts with this medication. BE SURE TO TELL YOUR DOCTOR about any medications or substances you are currently taking or using, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to ergotamine, caffeine, or any ergot alkaloid (ergonovine, ergoloid mesylates, and bromocriptine). * Before starting to take ergotamine and caffeine combination, be sure to tell your doctor if you now have or if you have ever had heart or blood vessel disease, high blood pressure, infections, kidney disease, liver disease, or thyroid disease. * Avoid any foods to which you are allergic--they may make your headache worse. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Since this drug acts by constricting blood vessels throughout the body (not just in the head), your fingers and toes may become especially sensitive to the cold. * Elderly patients are more sensitive to the effects of ergotamine. * This medication should not be taken for longer periods or in higher doses than recommended by your doctor. Extended use of this drug can lead to serious side effects. In addition, your body can develop a tolerance to this medication--higher doses would be required to obtain the same beneficial effects and, at the same time, the risk of side effects would be increased. * Be sure to tell your doctor if you are pregnant. This medication can cause contractions of the uterus, which can harm the developing fetus. This drug should not be used during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Ergotamine and caffeine combination passes into breast milk and may cause vomiting, diarrhea, irritability, or convulsions in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ergotamine and caffeine combination pagetitle ergotamine and caffeine combination 03147.TXT Copyright (C) 1993 Publications International, Ltd. erythromycin _________________________ BRAND NAMES (Manufacturers) E.E.S. 200 (Abbott) E.E.S. 400 (Abbott) E-Mycin (Boots) Eramycin (Wesley) Eryc (Parke-Davis) EryPed (Abbott) Ery-Tab (Abbott) Erythrocin Stearate Filmtabs (Abbott) Erythromycin Base (Abbott) Ilosone (Dista) Ilosone Pulvules (Dista) PCE Dispertab (Abbott) Robimycin (Robins) Wyamycin S (Wyeth) TYPE OF DRUG Antibiotic INGREDIENT erythromycin DOSAGE FORMS Tablets (250 mg, 333 mg, and 500 mg) Chewable tablets (200 mg) Enteric-coated tablets (250 mg, 333 mg, and 500 mg) Film-coated tablets (250 mg, 400 mg, and 500 mg) Polymer-coated tablets (333 mg) Capsules (250 mg) Oral drops (100 mg per 2.5 ml) Oral suspension (125 mg, 200 mg, 250 mg, and 400 mg per 5-ml spoonful) STORAGE Erythromycin tablets and capsules should be stored at room temperature in tightly closed, light-resistant containers. Erythromycin oral drops and oral suspension should be stored in the refrigerator in tightly closed, light-resistant containers. Any unused portion of the liquid forms should be discarded after 14 days. Erythromycin ethylsuccinate liquid does not need to be refrigerated; however, refrigeration helps to preserve the taste. This medication should never be frozen. Erythromycin is used to treat a wide variety of bacterial infections, including infections of the middle ear and the respiratory tract. It is also used to treat infections in persons who are allergic to penicillin. It acts by preventing the bacteria from manufacturing protein, which prevents their growth. It is not effective against viruses, parasites, or fungi. TREATMENT In order to prevent stomach upset, erythromycin coated tablets and erythromycin estolate or ethylsuccinate can be taken with food or milk. Other erythromycin products should be taken with a full glass of water, preferably on an empty stomach, one hour before or two hours after a meal. The liquid forms should be taken undiluted. Each dose of the oral drops should be measured carefully with the dropper provided. The oral suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. In order to prevent gastrointestinal side effects, the coated tablets and capsules should be swallowed whole; do not break, chew, or crush these products. Erythromycin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking this drug too soon, resistant bacteria continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal cramps, diarrhea, fatigue, irritation of the mouth, loss of appetite, nausea, sore tongue, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fever, hearing loss, hives, rash, rectal or vaginal itching, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS 1. Erythromycin can decrease the elimination of aminophylline, oxtriphylline, theophylline, digoxin, oral anticoagulants (blood thinners, such as warfarin), and carbamazepine from the body, which can lead to serious side effects. 2. Therapy with erythromycin may increase the effects of methylprednisolone. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to erythromycin. * Be sure to tell your doctor if you have ever had liver disease. * This drug has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different drug. Do not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking erythromycin. * Not all erythromycin products are chemically equivalent. However, they all produce the same therapeutic effect. Discuss with your doctor or pharmacist which forms of erythromycin are appropriate for you, and then choose the least expensive product among those recommended. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (difficulty in breathing, rash, fainting) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Although erythromycin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. E-Mycin,Eryc,Erythrocin Stearate Filmtabs,Ilosone Pulvules 0314701.scf,0314702.scf,0314703.scf,0314704.scf erythromycin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials erstQ pagetitle erythromycin 03148.TXT Copyright (C) 1993 Publications International, Ltd. erythromycin and sulfisoxazole combination _________________________ BRAND NAMES (Manufacturers) Eryzole (Alra) Pediazole (Ross) TYPE OF DRUG Antibiotic INGREDIENTS erythromycin and sulfisoxazole DOSAGE FORM Oral suspension (200 mg erythromycin and 600 mg sulfisoxazole per 5-ml spoonful) STORAGE Store in the refrigerator (never freeze) in a tightly closed container. Any unused portion of the erythromycin and sulfisoxazole combination should be discarded after the expiration date (usually after 14 days) because the drug loses its potency after that time. Erythromycin and sulfisoxazole combination is used to treat acute otitis media (middle ear infection) in children. Erythromycin acts by preventing the bacteria from manufacturing protein, thereby preventing their growth. Sulfisoxazole also acts by preventing production of nutrients that are required for growth of the infecting bacteria. Erythromycin and sulfisoxazole combination kills a wide range of susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT In order to avoid stomach upset, you can take this medication either with food or with a full glass of water or milk. You can also take it on an empty stomach. The oral suspension should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. This medication works best when the level of medicine in the bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, dizziness, headache, loss of appetite, nausea, sleep disorders, sore mouth or tongue, or vomiting. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. However, sunscreens containing para-aminobenzoic acid (PABA) interfere with the antibacterial activity of sulfisoxazole and should not be used. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about aching, or joint and muscle pain; convulsions; difficult or painful urination; difficulty in swallowing; hallucinations; mental depression; loss of hearing; redness, blistering, or peeling of the skin; itching; rash; sore throat and fever; uncoordinated movements; unusual bleeding or bruising; unusual tiredness; or yellowing of the eyes or skin. Also, if the symptoms of infection seem to be getting worse, contact your doctor. INTERACTIONS This medication interacts with several other types of drugs: 1. Erythromycin can decrease the elimination of aminophylline, oxtriphylline, theophylline, digoxin, oral anticoagulants (blood thinners, such as warfarin), and carbamazepine from the body, which can lead to serious side effects. 2. Sulfisoxazole can increase the active blood levels of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, methotrexate, oxyphenbutazone, phenylbutazone, and phenytoin, which can lead to serious side effects. 3. Methenamine can increase the side effects to the kidneys caused by sulfisoxazole. 4. Probenecid and sulfinpyrazone can increase the blood levels of sulfisoxazole. 5. Erythromycin may increase the effects of methylprednisolone. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to erythromycin, sulfisoxazole, any other sulfa medications (sulfonamide antibiotics, diuretics, dapsone, sulfoxone, oral antidiabetic medicines) or acetazolamide. * Tell your doctor if you now have or if you have ever had glucose-6-phosphate dehydrogenase (G6PD) deficiency, kidney disease, liver disease, or porphyria. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. Small amounts of erythromycin and sulfisoxazole cross the placenta. Although these antibiotics appear to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the infant, resulting in diarrhea. This medication should not be used in an infant less than two months of age in order to avoid side effects involving the liver. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. erythromycin and sulfisoxazole combination pagetitle erythromycin and sulfisoxazole combination 03149.TXT Copyright (C) 1993 Publications International, Ltd. estradiol (topical) _________________________ BRAND NAME (Manufacturer) Estraderm (Ciba) TYPE OF DRUG Estrogen INGREDIENT estradiol DOSAGE FORM Transdermal patch (delivers 0.05 mg or 0.1 mg per 24 hours) STORAGE Estradiol transdermal patches should be stored at room temperature in their original packages. Estradiol is a synthetic estrogen that is used to treat menopausal symptoms or other conditions associated with estrogen deficiency. TREATMENT Your prescription of estradiol will come with patient instructions. It is important that you follow the directions carefully. Wash and dry your hands before and after applying the patch. Apply the patch to a clean, dry, hairless area of the skin on the trunk of the body or on the abdomen. Do not apply to the breasts. Avoid applying the patch over a cut or to any area of the body where tight clothes might rub against the patch and cause it to loosen. Apply the patch immediately after opening the packet and removing the protective liner. Press the patch firmly to the skin with the palm of your hand for about ten seconds. Make sure there is good contact of the patch to the skin, especially around the edges. Rotate the application sites on the skin, waiting at least one week before applying to the same site. If the patch becomes loose or falls off, the same one can be reapplied. If necessary, however, a new patch can be applied. In either case, continue with your original treatment schedule. If you miss an application of this medication, apply a new patch as soon as possible unless it is almost time for the next application. In that case, return to your regular schedule. Do not apply a double dose. SIDE EFFECTS Minor. Acne, abdominal cramping, abnormal vaginal bleeding, bloating, breast tenderness, change in sexual desire, darkening of the skin, diarrhea, dizziness, fluid retention, frequent or painful urination, hair loss, headache, nausea, nervousness, skin irritation at patch site, vomiting, or weight gain. These side effects should disappear as your body adjusts to the drug. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Eating a full breakfast or having a midmorning snack may help to relieve the nausea and vomiting. This medication can increase your sensitivity to sunlight. You should, therefore, try to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, chest pain, convulsions, depression, itching, loss of coordination, pain or inflammation of the calves or thighs, shortness of breath, skin rash, slurred speech, or yellowing of the eyes or skin. INTERACTIONS Estradiol interacts with several other types of medications: 1. It can decrease the effectiveness of oral anticoagulants (blood thinners, such as warfarin). 2. Carbamazepine, phenobarbital, phenytoin, primidone, and rifampin can reduce the effectiveness of estradiol. 3. Estradiol can increase the side effects and decrease the effectiveness of tricyclic antidepressants. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to estradiol, other estrogens, or oral contraceptives. * Tell your doctor if you now have or if you have ever had asthma, blood clot disorders, breast disease, depression, diabetes mellitus, epilepsy, endometriosis, gallstones or gallbladder disease, heart disease, high blood pressure, kidney disease, liver disease, migraine headaches, porphyria, or uterine tumors. * Estrogens may cause a change in glucose tolerance in diabetic patients. Be sure to tell your doctor if you notice any abnormalities in your urine or blood glucose levels. * Estrogens can change your blood's clotting ability, so be especially careful to avoid injuries. * Although it is not known if estrogens can increase the risk of breast cancer, it is important that you examine your breasts regularly for lumps or discharge. * If you notice tenderness, swelling, or bleeding of your gums, consult your doctor or dentist. * Your doctor may schedule regular office visits to be sure your medication is working properly. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * A package insert titled "Information for the Patient" should be dispensed with your prescription. It is important that you understand the possible risks and benefits of this medication. If you have any questions, check with your doctor or pharmacist. * Cigarette smoking can greatly increase the risk of developing heart or blood vessel disorders while taking this medication. The risks increase with the amount of smoking and the age of the smoker. * Be sure to tell your doctor if you are pregnant. If you suspect you are pregnant, discontinue use of the medication immediately. Estrogens have been shown to cause birth defects in the offspring of women who received these medications during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of estrogen pass into breast milk. Estradiol can also decrease milk production. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. estradiol (topical) pagetitle estradiol (topical) 03150.TXT Copyright (C) 1993 Publications International, Ltd. estrogens, conjugated _________________________ BRAND NAMES (Manufacturers) conjugated estrogens (various manufacturers) Premarin (Wyeth-Ayerst) TYPE OF DRUG Estrogen INGREDIENTS conjugated estrogens DOSAGE FORM Tablets (0.3 mg, 0.625 mg, 0.9 mg, 1.25 mg, and 2.5 mg) STORAGE These tablets should be stored at room temperature in a tightly closed container. Conjugated estrogens are a group of estrogen-like products obtained from natural sources (the urine of pregnant mares). They are used to treat menopausal symptoms, prostatic cancer, uterine bleeding, and some cases of breast cancer. They can also be used in replacement therapy for women who do not produce enough estrogen of their own. TREATMENT In order to avoid stomach irritation, you can take conjugated estrogens with food or immediately after a meal. Follow your doctor's instructions carefully when you take this medication. Often, conjugated estrogens are prescribed to be taken for three-week periods, with one week off (in order to reduce potential side effects). If you miss a scheduled dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating, change in sexual desire, depression, diarrhea, dizziness, headache, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. You should, therefore, try to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in menstrual patterns; chest pain; difficulty in breathing; eye pain; loss of coordination; lumps in the breast; painful urination; pain in the calves; skin color changes; slurred speech; sudden, severe headache; swelling of the feet or ankles; vision changes; weight gain or loss; or yellowing of eyes or skin. INTERACTIONS Conjugated estrogens interact with several other drugs: 1. Estrogens can decrease the effectiveness of oral anticoagulants (blood thinners, such as warfarin). 2. Carbamazepine, ampicillin, phenobarbital, phenytoin, primidone, and rifampin can increase the elimination of estrogen from the body, thus decreasing its effectiveness. 3. Estrogens can increase the side effects and decrease the effectiveness of the tricyclic antidepressants. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to conjugated estrogens, to oral contraceptives (birth control pills), or to any other estrogen product. * Before starting to take this drug, tell your doctor if you have ever had asthma, blood clot disorders, breast cancer, diabetes mellitus, endometriosis, epilepsy, gallbladder disease, heart disease, high blood pressure, hypercalcemia, kidney disease, liver disease, migraines, porphyria, uterine fibroid tumors, vaginal bleeding, or depression. * Studies have shown that estrogens increase the risk of certain types of cancer. Ask your pharmacist for the brochure "Information for the Patient." It is important that you understand the possible risks and benefits of this medication. If you have any questions, check with your doctor or pharmacist. * Although it is not known if estrogens can increase the risk of breast cancer, it is important that you examine your breasts regularly for lumps or discharge. * If you notice tenderness, swelling, or bleeding of your gums, consult your doctor or dentist. * Estrogens can cause a change in glucose tolerance in diabetic patients. If you are diabetic, be sure to tell your doctor if you notice any abnormalities in your urine or blood glucose levels. * Do not change your brand of medication without the consent of your doctor. If your refill does not look the same, consult your doctor or pharmacist. * Cigarette smoking increases the risk of serious side effects from estrogens. The risk increases with both age and the amount of smoking. * If this medication makes you dizzy or light-headed, you should not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Estrogens can change your blood's clotting ability, so be especially careful to avoid injuries. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Be sure to tell your doctor if you are pregnant. If you suspect you are pregnant, discontinue use of this medication immediately. Several studies have shown that estrogens taken during pregnancy can cause birth defects. Also, tell your doctor if you are breast-feeding an infant. Estrogens pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Premarin 0.3 mg,Premarin 0.625 mg,Premarin 0.9 mg,Premarin 1.25 mg,Premarin 2.5 mg 0315001.scf,0315002.scf,0315003.scf,0315004.scf,0315005.scf estrogens, conjugated logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle estrogens, conjugated 03119.TXT Copyright (C) 1993 Publications International, Ltd. dexamethasone, neomycin, and polymyxin B combination (ophthalmic) _________________________ BRAND NAMES (Manufacturers) AK-Trol (Akorn) Dexacidin (Iolab Pharm) Dexasporin (various manufacturers) Infectrol (Bausch & Lomb) Maxitrol (Alcon) TYPE OF DRUG Ophthalmic adrenocorticosteroid and antibiotic INGREDIENTs dexamethasone, neomycin, and polymyxin B DOSAGE FORMS Ophthalmic suspension (0.1% dexamethasone, 3.5 mg neomycin, and 10,000 units polymyxin B per ml) Ophthalmic ointment (0.1% dexamethasone, 3.5 mg neomycin, and 10,000 units polymyxin B per gram) STORAGE The ophthalmic suspension and ointment should be stored at room temperature (never frozen) in tightly closed containers. If the suspension or ointment changes color, don't use the medication. A change in color indicates a loss of effectiveness. This medication is used for the short-term treatment of bacterial infections and inflammation of the eyes. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Dexamethasone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve inflammation (redness, swelling, itching, and discomfort). How it does so is not completely understood. Neomycin and polymyxin B are antibiotics, which act to prevent the growth and multiplication of infecting bacteria. TREATMENT Wash your hands with soap and water before using this medication. If you are using the suspension, shake the bottle well before measuring out the drops. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and to equalize the doses. In order to prevent contamination of the medicine, be careful not to touch the tube portion of the dropper, and do not let the dropper touch the eye. Note that the bottle of the eye drops is not completely full. This is to allow control of the number of drops used. To apply the drops, tilt your head back and pull down the lower eyelid with one hand to make a pouch below the eyeball. Drop the medicine into the pouch and slowly close your eyes. Do not blink. Place one finger at the corner of the eye next to your nose, applying slight pressure (this is done to prevent loss of medication through the duct that drains fluid from the surface of the eye into the nose and throat), and keep your eyes closed for a minute or two. If you think that the medicine did not get into your eye, repeat the process once. If you are using more than one type of eye drops, wait at least five minutes between doses of the two types drugs. Follow the same general procedure for applying the ointment. Tilt your head back, pull down the lower eyelid, and squeeze the prescribed amount of ointment in a line along the pouch below the eyeball. Close your eyes, and place your finger at the corner of the eye near the nose for a minute or two. Do not rub your eyes. Wipe off excess ointment and the tip of the tube with clean tissues. Since applying the medication is somewhat difficult to do, you may want someone else to apply it for you. If you miss a dose of this drug, insert the drops or apply the ointment as soon as possible, unless it is almost time for the next application. In that case, do not use the missed dose at all; just return to your regular dosing schedule. Your doctor may advise you to reduce the number of times you are applying this medication when the inflammation and infection begin to improve. Continue to take this medication for the entire time prescribed by your doctor, even if the symptoms of infection disappear then. If you stop applying the drug too soon, bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Blurred vision, burning, or stinging. These side effects should disappear as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about disturbed or reduced vision; eye pain, itching, or swelling; headache; rash; or severe irritation. INTERACTIONS This medication should not interact with any other medications as long as it is used according to directions. WARNINGS * Tell your doctor about any reactions you have had to medications, especially to dexamethasone or other adrenocorticosteroids (such as alcometasone, amcinonide, betamethasone, clobetasol, clocortolone, cortisone, desonide, desoximetasone, diflorasone, flumethasone, fluocinolone, fluorometholone, flurandrenolide, halcinonide, hydrocortisone, methylprednisolone, prednisolone, prednisone, and triamcinolone), to polymyxin B, to neomycin, or to any related antibiotic (amikacin, gentamicin, kanamycin, netilmicin, paromomycin, streptomycin, and tobramycin). * Tell your doctor if you have ever had fungal or viral infections of the eye, inner ear disease, kidney disease, or myasthenia gravis. * If there is no change in your condition two or three days after starting to take this drug, contact your doctor. The drug may not be effective for your particular infection. * Do not use this medication for longer than ten consecutive days unless your doctor directs you to do so. Prolonged use of this drug may result in glaucoma, secondary infection, cataracts, or eye damage. If you need to take this medication for several weeks, your doctor may want you to have an eye examination by an ophthalmologist. * This medication has been prescribed for your current infection only. A subsequent infection may require a different medicine. Do not give this drug to other people or use it to treat other infections. * Do not apply makeup to the affected eye. * Be sure to tell your doctor if you are pregnant. When large amounts of dexamethasone are applied for prolonged periods, some of it is absorbed into the bloodstream. It may cross the placenta. Birth defects have been observed in the offspring of animals that were given large oral doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the eye, small amounts of dexamethasone can pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. dexamethasone, neomycin, and polymyxin B combin...on (ophthalmic) pagetitle dexamethasone, neomycin, and polymyxin B combination (ophthalmic) 03120.TXT Copyright (C) 1993 Publications International, Ltd. dexchlorpheniramine _________________________ BRAND NAMES (Manufacturers) Dexchlor (Henry Schein) dexchlorpheniramine (various manufacturers) Poladex (Major) Polaramine (Schering) Polaramine Repetabs (Schering) TYPE OF DRUG Antihistamine INGREDIENT dexchlorpheniramine DOSAGE FORMS Tablets (2 mg) Repeat-action tablets (4 mg and 6 mg) Oral syrup (2 mg per 5-ml spoonful, with 6% alcohol) STORAGE Dexchlorpheniramine tablets and oral syrup should be stored at room temperature in tightly closed containers. This medication belongs to a group of drugs known as antihistamines (antihistamines block the action of histamine, a chemical that is released by the body during an allergic reaction). It is used to treat or prevent symptoms of allergy. TREATMENT To avoid stomach upset, you can take dexchlorpheniramine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The syrup form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough for medical applications and does not ensure that you receive the proper dose. The repeat-action tablet form of this medication should be swallowed whole. Breaking, chewing, or crushing these tablets destroys their sustained-release activity and may increase the side effects. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision; confusion; constipation; diarrhea; difficult or painful urination; dizziness; dry mouth, throat, or nose; headache; irritability; loss of appetite; nausea; rash; restlessness; ringing or buzzing in the ears; stomach upset; or unusual increase in sweating. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you experience mouth or throat dryness, you may wish to chew sugarless gum or suck on ice chips or a piece of hard candy to minimize these side effects. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in menstruation, clumsiness, feeling faint, flushing of the face, hallucinations, seizures, shortness of breath, sleeping disorders, sore throat or fever, palpitations, tightness in the chest, unusual bleeding or bruising, or unusual tiredness or weakness. INTERACTIONS Dexchlorpheniramine interacts with several other types of medications: 1. Concurrent use of it with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (such as isocarboxazid, pargyline, phenelzine, and tranylcypromine) can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to dexchlorpheniramine or other antihistamines (such as astemizole, azatadine, brompheniramine, carbinoxamine, chlorpheniramine, clemastine, cyproheptadine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, phenidamine, promethazine, pyrilamine, terfenadine, trimeprazine, tripelennamine, and triprolidine). * Tell your doctor if you now have or if you have ever had asthma, blood vessel disease, glaucoma, high blood pressure, kidney disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * Dexchlorpheniramine can cause drowsiness or dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous equipment, may be decreased. Appropriate caution should, therefore, be taken. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. It is recommended that use of this drug be avoided during the last three months of pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of dexchlorpheniramine pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Polaramine Repetabs 0312001.scf dexchlorpheniramine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials he em pagetitle dexchlorpheniramine 03121.TXT Copyright (C) 1993 Publications International, Ltd. dextroamphetamine _________________________ BRAND NAMES (Manufacturers) Dexedrine (Smith Kline & French) Dexedrine Spansules (Smith Kline & French) dextroamphetamine sulfate (various manufacturers) Oxydess II (Vortech) Spancap No. 1 (Vortech) TYPE OF DRUG Amphetamine INGREDIENT dextroamphetamine DOSAGE FORMS Tablets (5 mg and 10 mg) Sustained-release capsules (5 mg, 10 mg, and 15 mg) STORAGE Dextroamphetamine tablets and capsules should be stored at room temperature in tightly closed containers. This medication is a central nervous system stimulant that increases mental alertness and decreases fatigue. It is used to treat narcolepsy (problems in staying awake) and abnormal behavioral syndrome in children (hyperkinetic syndrome or attention deficit disorder). The way this acts to control abnormal behavioral syndrome in children is not known. Dextroamphetamine is also used as an appetite suppressant during the first few weeks of dieting (while you are trying to establish new eating habits). It is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness as an appetite suppressant lasts only for short periods (three to 12 weeks), however. TREATMENT In order to avoid stomach upset, you can take dextroamphetamine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). If this medication is being used to treat narcolepsy or abnormal behavioral syndrome in children, the first dose each day should be taken soon after awakening. Subsequent doses should be spaced at four- to six-hour intervals. If this medication has been prescribed as a diet aid, it should be taken one hour before each meal. The sustained-release form of this medication should be swallowed whole. Breaking, chewing, or crushing these capsules destroys their sustained-release activity and may increase the side effects. In order to avoid difficulty in falling asleep, the last dose of this medication each day should be taken four to six hours before bedtime (tablets) or ten to 14 hours before bedtime (sustained-release capsules). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal cramps, constipation, diarrhea, dizziness, dry mouth, false sense of well-being, insomnia, loss of appetite, irritability, nausea, overstimulation, restlessness, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the drug. To prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, bran, salads, and whole-grain cereals and breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. If you feel dizzy, sit or lie down for a while; get up from a sitting or lying position slowly. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, fatigue, headaches, impotence, mental depression, nosebleeds, palpitations, rash, sweating, tightness in the chest, tremors, or uncoordinated movements. INTERACTIONS Dextroamphetamine interacts with several other types of medications: 1. Use of dextroamphetamine within 14 days of use of a monoamine oxidase (MAO) inhibitor (such as isocarboxazid, pargyline, phenelzine, and tranylcypromine) can result in high blood pressure and other side effects. 2. Barbiturate medications, certain tranquilizers (especially chlorpromazine), and tricyclic antidepressants can reverse the effect of this medication. 3. Amphetamines can decrease the blood-pressure-lowering effects of antihypertensive medications (especially guanethidine) and may alter dosage requirements for insulin and oral antidiabetic medication in diabetic patients. 4. The side effects of other central nervous system stimulants (such as caffeine, nonprescription appetite suppressants, and cough, sinus, allergy, asthma, or cold preparations) may be increased by dextroamphetamine. 5. Acetazolamide and sodium bicarbonate can decrease the elimination of the amphetamines from the body, thereby prolonging their duration of action. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to dextroamphetamine or other central nervous system stimulants (such as albuterol, amphetamine, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, phenylephrine, phenylpropanolamine, pseudoephedrine, and terbutaline). * Tell your doctor if you have a history of drug abuse or if you have ever had problems with agitation, diabetes mellitus, glaucoma, heart or blood vessel disease, high blood pressure, or thyroid disease. * Dextroamphetamine can mask the symptoms of extreme fatigue and can cause dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous equipment, may be decreased. Appropriate caution should, therefore, be taken. * Before surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Dextroamphetamine is related to amphetamine and may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). Therefore, you should not increase the dosage of this medication or take it for longer than 12 weeks unless you first consult your doctor. It is also important that you not stop taking this medication abruptly; fatigue, sleep disorders, mental depression, nausea, vomiting, stomach cramps, or pain could occur. Your doctor may, therefore, want to decrease the dosage gradually in order to prevent these side effects. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (difficulty in breathing, fainting, rash, wheezing) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Although side effects in humans have not been thoroughly studied, some of the amphetamines have caused heart, brain, and biliary tract abnormalities in the fetuses of animals that received large doses of these drugs during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk and can cause unwanted side effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Dexedrine Spansules 0312101.scf7 dextroamphetamine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials !pagetitle dextroamphetamine 03122.TXT Copyright (C) 1993 Publications International, Ltd. dextromethorphan and iodinated glycerol combination _________________________ BRAND NAMES (Manufacturers) Iophen DM (various manufacturers) Torganic-DM (Major) Tusside (Ortega) Tussi-Organidin DM (Wallace) Tussi-R-Gen DM (Goldline) TYPE OF DRUG Cough suppressant and expectorant combination INGREDIENTS dextromethorphan and iodinated glycerol DOSAGE FORM Oral liquid (10 mg dextromethorphan and 30 mg iodinated glycerol per 5-ml spoonful) STORAGE This medicine should be stored at room temperature in a tightly closed container. Avoid exposure of this medication to high temperatures during storage. Dextromethorphan and iodinated glycerol combination is used to relieve coughs due to colds or infections or inflammation of the upper respiratory tract. Iodinated glycerol is an expectorant, which loosens bronchial secretions. Dextromethorphan is a cough suppressant, which acts on the cough center in the brain. TREATMENT You can take dextromethorphan and iodinated glycerol combination either on an empty stomach or, to avoid stomach irritation, with food or milk (as directed by your doctor). Each dose should be measured carefully with a specially designed 5-ml measuring spoon. To help loosen the mucus in the bronchi, you should drink a glass of water after each dose. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; return to your regular dosing schedule. Do not double the dose. SIDE EFFECTS Minor. Drowsiness or stomach upset. These side effects should disappear as your body adjusts to this medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about extreme weakness, skin rash, or swollen lymph nodes. INTERACTIONS This medicine can interact with other types of drugs: 1. Use with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can lead to drowsiness. 2. The iodine component of iodinated glycerol can increase the side effects of lithium on the thyroid gland. It can also increase the effects of antithyroid medications. 3. Use of dextromethorphan within 14 days of use of a monoamine oxidase inhibitor (such as isocarboxazid, pargyline, phenelzine, and tranylcypromine) can result in high blood pressure and other side effects. Before starting this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to dextromethorphan or to iodinated glycerol or iodine. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had acne, cystic fibrosis, heart disease, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in activities that require alertness, such as driving a car or operating potentially dangerous equipment. * While you are taking this medication, drink several glasses of water a day to help loosen bronchial secretions, unless your doctor directs you to do otherwise. * Be sure to tell your doctor if you are pregnant. This medication should not be taken during pregnancy. Iodinated glycerol can cause goiter (an enlarged thyroid gland) in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Iodinated glycerol can pass into breast milk and cause side effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. dextromethorphan and iodinated glycerol combination pagetitle dextromethorphan and iodinated glycerol combination 03123.TXT Copyright (C) 1993 Publications International, Ltd. diazepam _________________________ BRAND NAMES (Manufacturers) diazepam (various manufacturers) Diazepam Intensol (Roxene) Valium (Roche) Valrelease (Roche) Vazepam (Major) TYPE OF DRUG Sedative/hypnotic INGREDIENT diazepam DOSAGE FORMS Oral solution (5 mg per 5-ml spoonful) Oral intensol solution (5 mg per ml) Tablets (2 mg, 5 mg, and 10 mg) Sustained-release capsules (15 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Diazepam is prescribed to treat symptoms of anxiety and sometimes to treat muscle spasms, convulsions, seizures, or alcohol withdrawal. It is not clear exactly how this medicine works, but it may relieve anxiety by acting as a depressant of the central nervous system (brain and spinal cord). Diazepam is currently used by many people to relieve nervousness. It is effective for this purpose for short periods, but it is important to try to remove the cause of the anxiety as well. TREATMENT The oral intensol solution should be mixed with a nonalcoholic liquid or semi-solid food such as water, juice, soda or soda-like beverages, applesauce, or pudding. Use only the calibrated dropper provided. Stir the liquid or food gently for a few seconds after adding the oral intensol solution. The entire amount of the mixture should be consumed immediately. Do not store prepared mixtures for future use. The tablet or capsule form of this medication should be taken exactly as directed by your doctor. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this medication with a dose of antacids, since they may retard its absorption. If you are taking this medication regularly and you miss a dose and remember within an hour, take the missed dose immediately. If more than an hour has passed, skip the dose you missed and wait for the next scheduled dose. Do not double the next dose. SIDE EFFECTS Minor. Bitter taste in the mouth, constipation, depression, diarrhea, dizziness, drowsiness (after a night's sleep), dry mouth, excessive salivation, fatigue, flushing, headache, heartburn, loss of appetite, nausea, nervousness, sweating, or vomiting. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips or hard candy. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, difficulty in urinating, fainting, falling, fever, joint pain, hallucinations, mouth sores, nightmares, palpitations, rash, severe depression, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of medications: 1. To prevent oversedation, this drug should not be taken with alcohol, other sedative drugs, or central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, medicines for seizures, and tranquilizers), or with antidepressants. 2. This medication may decrease the effectiveness of carbamazepine, levodopa, and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 3. Disulfiram, oral contraceptives (birth control pills), isoniazid, fluoxetine, valproic acid, propranolol, metoprolol, and cimetidine can increase the blood levels of diazepam, which can lead to toxic effects. 4. Concurrent use of rifampin may decrease the effectiveness of diazepam. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to diazepam or other benzodiazepine tranquilizers (such as alprazolam, flurazepam, halazepam, lorazepam, oxazepam, prazepam, temazepam, and triazolam). * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, epilepsy, lung disease, myasthenia gravis, porphyria, mental depression, or mental illness. * This medicine can cause drowsiness. Avoid tasks that require alertness, such as driving a car or operating potentially dangerous machinery. * This medication has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase your dosage of the drug without first consulting your doctor. It is also important not to stop taking this drug suddenly if you have been taking it in large amounts or if you have used it for several weeks. Your doctor may want to reduce your dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects can develop. * Be sure to tell your doctor if you are pregnant. This medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may cause the baby to become dependent on it, resulting in withdrawal side effects in the newborn. Also, use of this medicine during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the infant. Be sure to tell your doctor if you are breast-feeding an infant. This medication can pass into breast milk and cause excessive drowsiness, slowed heartbeat, and breathing difficulties in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Valium 5 mg,Valium 10 mg,Valrelease 0312301.scf,0312302.scf,0312303.scf diazepamE logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle diazepam 03124.TXT Copyright (C) 1993 Publications International, Ltd. diclofenac _________________________ BRAND NAME (Manufacturer) Voltaren (Ciba-Geigy) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT diclofenac DOSAGE FORM Enteric-coated tablets (25 mg, 50 mg, and 75 mg) STORAGE This medication should be stored in a tightly closed container at room temperature away from heat and direct sunlight. Diclofenac is used to treat the inflammation (pain, swelling, and stiffness) of arthritis and ankylosing spondylitis. Diclofenac has been shown to block the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not yet fully understood how it works. TREATMENT You should take this medication on an empty stomach 30 to 60 minutes before meals or two hours after meals, so that it gets into your bloodstream quickly. To decrease stomach irritation, your doctor may want you to take this medication with food or antacids. Do not break, crush, or chew the tablets before swallowing. They should be swallowed whole to lessen side effects. It may take two weeks before you feel the full effects of this medication. Diclofenac does not cure arthritis or ankylosing spondylitis, but it will help to control the condition as long as you continue to take it. It is important that you take diclofenac on schedule and do not miss any doses. If you do miss a dose, take it as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal cramps, constipation, diarrhea, dizziness, headache, indigestion, or nausea. As your body adjusts to the drug, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; difficult or painful urination; palpitations; a problem with hearing, or ringing or buzzing in your ears; skin rash, hives, or itching; stomach pain; swelling of the feet or hands; tightness in the chest; unexplained sore throat and fever; soreness of the tongue or mouth; unusual fatigue or weakness; unusual weight gain; wheezing or difficulty in breathing; or yellowing of the eyes or skin. INTERACTIONS Diclofenac interacts with several other types of medications: 1. Anticoagulants (blood thinners, such as warfarin) can lead to an increase in bleeding complications. 2. Aspirin, other salicylates, and other anti-inflammatory medications can increase stomach irritation. Aspirin may also decrease the effectiveness of diclofenac. Therefore, aspirin should not be used concurrently with diclofenac. 3. Diclofenac can decrease the elimination of digoxin, methotrexate, and lithium from the body, which can lead to serious side effects. 4. The activity of diuretics (water pills) and drugs to lower blood pressure (propranolol, metoprolol) may be inhibited by diclofenac. 5. Diclofenac may alter a diabetic patient's response to insulin, oral hypoglycemic agents, or antiseizure medication (phenytoin). Before starting to take diclofenac, BE SURE TO TELL YOUR DOCTOR about any medications you are taking, especially any of those listed above. WARNINGS * Before you start to take this medication, it is important to tell your doctor if you have ever had unusual or allergic reactions to diclofenac or to any of the other chemically related drugs (aspirin, other salicylates, diflunisal, fenoprofen, flurbiprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, or tolmetin). * Tell your doctor if you now have or if you have ever had asthma, bleeding problems, colitis, stomach ulcers or other stomach problems, epilepsy, heart disease, high blood pressure, kidney disease, liver disease, mental illness, or Parkinson's disease. * If diclofenac makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous machinery. * Because this drug can prolong your bleeding time, it is important to tell your doctor or dentist that you are taking this drug before having surgery or any other medical or dental treatment. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. These should, therefore, be avoided (unless your doctor directs you to do otherwise). * Be sure to tell your doctor if you are pregnant or planning to become pregnant. This medication can cause unwanted effects on the heart or blood flow of the fetus. Studies in animals have also shown that this medicine, if taken late in pregnancy, may increase the length of pregnancy, prolong labor, or cause other problems during delivery. Also tell your doctor if you are breast-feeding an infant. Small amounts of diclofenac can pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. diclofenac use pagetitle diclofenac 03125.TXT Copyright (C) 1993 Publications International, Ltd. dicloxacillin _________________________ BRAND NAMES (Manufacturers) Dicloxacil (Goldline) dicloxacillin sodium (various manufacturers) Dycill (Beecham) Dynapen (Bristol) Pathocil (Wyeth) TYPE OF DRUG Penicillin antibiotic INGREDIENT dicloxacillin DOSAGE FORMS Capsules (125 mg, 250 mg, and 500 mg) Oral suspension (62.5 mg per 5-ml spoonful) STORAGE Dicloxacillin capsules should be stored at room temperature in a tightly closed container. The oral suspension should be stored in the refrigerator in a tightly closed container. Any unused portion of the suspension should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. Dicloxacillin is used to treat a wide variety of bacterial infections, especially those caused by Staphylococcus bacteria. It acts by severely injuring the cell membranes of the infecting bacteria, thereby preventing them from growing and multiplying. Dicloxacillin kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Dicloxacillin should be taken on an empty stomach or with a glass of water, one hour before or two hours after a meal. This medication should never be taken with fruit juices or carbonated beverages, because the acidity of these drinks destroys the drug in the stomach. The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle at the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Dicloxacillin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are taking four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular schedule. Try not to skip any doses. It is important for you to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms of your infection disappear before the end of that period. If you stop taking the drug too soon, bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to this particular drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloating, chills, cough, darkened tongue, difficulty in breathing, fever, irritation of the mouth, muscle aches, rash, rectal or vaginal itching, severe diarrhea, or sore throat. In addition, if the symptoms of your infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Dicloxacillin interacts with other types of medications: 1. Probenecid can increase the blood concentrations and side effects of this medication. 2. Dicloxacillin may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking this medication. Discuss this with your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to dicloxacillin or penicillins, or to cephalosporin antibiotics, penicillamine, or griseofulvin. * Tell your doctor if you now have or if you have ever had kidney disease, asthma, or allergies. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking dicloxacillin should know that this drug can cause interference with a Clinitest urine glucose test. To avoid this problem while taking dicloxacillin, you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although dicloxacillin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. dicloxacillin pagetitle dicloxacillin 03126.TXT pagetitle dicyclomine Copyright (C) 1993 Publications International, Ltd. dicyclomine _________________________ BRAND NAMES (Manufacturers) Bentyl (Lakeside Pharmaceutical) Byclomine (Major) dicyclomine hydrochloride (various manufacturers) Di-Spaz (Vortech) TYPE OF DRUG Antispasmodic INGREDIENT dicyclomine DOSAGE FORMS Tablets (20 mg) Capsules (10 mg and 20 mg) Oral liquid (10 mg per 5-ml spoonful) STORAGE Dicyclomine tablets, capsules, and oral liquid should be stored at room temperature in tightly closed containers. This medication should never be frozen. Dicyclomine is used to treat gastrointestinal tract disorders and irritable bowel syndrome. Dicyclomine acts directly on the muscles of the gastrointestinal tract to decrease tone and slow their activity. TREATMENT Dicyclomine can be taken before or after meals. Consult your doctor for specific recommendations. Antacids and antidiarrheal medicines may prevent absorption of this drug; therefore, at least one hour should separate doses of dicyclomine and one of these medications. Measure the liquid form of dicyclomine carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. You can then dilute the oral liquid in other liquids to mask its taste. If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating; blurred vision; confusion; constipation; dizziness; drowsiness; dry mouth, throat, and nose; headache; increased sensitivity to light; insomnia; loss of taste; nausea; nervousness; decreased sweating; vomiting; or weakness. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. Wear sunglasses if your eyes become sensitive to light. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Be sure to tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about difficulty in urinating, fever, hallucinations, impotence, palpitations, rash, short-term memory loss, or sore throat. INTERACTIONS Dicyclomine does interact with several other types of medications: 1. It can cause extreme drowsiness when combined with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants. 2. Amantadine, antihistamines, haloperidol, monoamine oxidase (MAO) inhibitors, phenothiazine tranquilizers, procainamide, quinidine, and tricyclic antidepressants can increase the side effects of dicyclomine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to dicyclomine. * Tell your doctor if you have ever had glaucoma; heart disease; hiatal hernia; high blood pressure; kidney, liver, or thyroid disease; myasthenia gravis; obstructed bladder; obstructed intestine; enlarged prostate gland; ulcerative colitis; or internal bleeding. * If this medication makes you dizzy or drowsy or blurs your vision, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Be careful on stairs, and avoid getting up from a lying or sitting position suddenly. * This drug can decrease sweating and heat release from the body. Avoid taking hot baths, showers, or saunas, and avoid getting overheated by exercising in hot weather. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Tell your doctor if you are pregnant. Although this drug appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of dicyclomine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Bentyl 10 mg,Bentyl 20 mg 0312601.scf,0312602.scff dicyclomine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials 03127.TXT Copyright (C) 1993 Publications International, Ltd. diethylpropion _________________________ BRAND NAMES (Manufacturers) diethylpropion hydrochloride (various manufacturers) Tenuate (Lakeside Pharmaceutical) Tenuate Dospan (Lakeside Pharmaceutical) Tepanil (Riker) Tepanil Ten-Tab (Riker) TYPE OF DRUG Anorectic INGREDIENT diethylpropion DOSAGE FORMS Tablets (25 mg) Sustained-release tablets (75 mg) STORAGE Diethylpropion tablets should be stored at room temperature in tightly closed, light-resistant containers. Diethylpropion is used as an appetite suppressant during the first few weeks of dieting to help establish new eating habits. This medication is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness lasts only for short periods (three to 12 weeks), however. TREATMENT You can take diethylpropion with a full glass of water one hour before meals (unless your doctor directs you to do otherwise). In order to avoid difficulty in falling asleep, the last dose of this medication each day should be taken four to six hours before bedtime (regular tablets) or ten to 14 hours before bedtime (sustained-release tablets). The sustained-release form of this medication should be swallowed whole. Breaking, chewing, or crushing these tablets destroys their sustained-release activity and may increase the side effects. If you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, constipation, diarrhea, dizziness, dry mouth, euphoria, fatigue, insomnia, irritability, nausea, nervousness, restlessness, stomach pain, sweating, tremors, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the medication. Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. In order to prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in sexual desire, chest pain, difficulty in urinating, enlarged breasts (in both sexes), fever, hair loss, headaches, impotence, menstrual irregularities, mental depression, mood changes, mouth sores, muscle pains, nosebleeds, palpitations, rash, or sore throat. INTERACTIONS Diethylpropion interacts with several other types of drugs: 1. Use of diethylpropion within 14 days of use of a monoamine oxidase (MAO) inhibitor (such as isocarboxazid, pargyline, phenelzine, and tranylcypromine) can result in high blood pressure and other side effects. 2. Barbiturate medications and phenothiazine tranquilizers (especially chlorpromazine) can antagonize (act against) the appetite suppressant activity of this medication, decreasing its effectiveness. 3. Diethylpropion can decrease the blood-pressure-lowering effects of antihypertensive medications (especially guanethidine) and may alter some insulin and oral antidiabetic medication dosages requirement in some diabetic patients. 4. The side effects of other central nervous system stimulants (such as caffeine and nonprescription appetite suppressants and cough, allergy, asthma, sinus, and cold preparations) may be increased by this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to diethylpropion or other appetite suppressants (including benzphetamine, phendimetrazine, phenmetrazine, fenfluramine, mazindol, and phentermine), or to epinephrine, norepinephrine, ephedrine, amphetamine, dextroamphetamine, phenylephrine, phenylpropanolamine, pseudoephedrine, albuterol, metaproterenol, or terbutaline. * Tell your doctor if you have a history of drug abuse, or if you have ever had angina, diabetes mellitus, emotional disturbances, glaucoma, heart or cardiovascular disease, high blood pressure, thyroid disease, or epilepsy. * Diethylpropion can mask the symptoms of extreme fatigue and can cause dizziness or light-headedness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous equipment, may be decreased. Appropriate caution should, therefore, be taken. * Before surgery or other medical or dental treatment, tell your doctor or dentist you are taking diethylpropion. * Diethylpropion is related to amphetamine and may be habit-forming when taken for long periods (both physical and psychological dependence can occur). Therefore, you should not increase the dosage of this drug or take it for longer than 12 weeks unless you first consult your doctor. It is also important that you not stop taking this drug abruptly if you have been taking large doses for a long time. Fatigue, sleep disorders, mental depression, nausea or vomiting, or stomach cramps or pain could occur. Your doctor may want to decrease your dosage gradually. * Be sure to tell your doctor if you are pregnant. Although side effects in humans have not been thoroughly studied, some of the appetite suppressants such as, diethylpropion, have been shown to cause side effects in the fetuses of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this medication passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Tenuate 0312701.scf diethylpropion7 logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle diethylpropion 03128.TXT Copyright (C) 1993 Publications International, Ltd. diflunisal _________________________ BRAND NAME (Manufacturer) Dolobid (Merck Sharp & Dohme) TYPE OF DRUG Nonsteroidal anti-inflammatory analgesic INGREDIENT diflunisal DOSAGE FORM Tablets (250 mg and 500 mg) STORAGE This medication should be stored in a closed container at room temperature, away from heat and direct sunlight. Diflunisal is used to treat the inflammation (pain, swelling, and stiffness) of osteoarthritis and muscle or skeletal injury. Diflunisal has been shown to block the production of certain body chemicals, called prostaglandins, that may trigger pain. However, it is not yet fully understood how diflunisal works. TREATMENT You should take this drug immediately after meals or with food in order to reduce stomach irritation. Do not break, crush, or chew the tablets before swallowing--they should be swallowed whole to lessen side effects and to maintain their benefits for a full 12 hours. Ask your doctor if you can take diflunisal with an antacid. If you are taking diflunisal to relieve osteoarthritis, you must take it regularly, as directed by your doctor. It may take several days before you feel the full benefits of this medication. Diflunisal does not cure osteoarthritis, but it will help to control the condition as long as you continue to take the medication. It is important to take diflunisal on schedule and not to miss any doses. If you do miss a dose of this medication, take the missed dose as soon as possible, unless more than six hours has passed. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating, constipation, diarrhea, difficulty in sleeping, dizziness, drowsiness, headache, heartburn, indigestion, light-headedness, loss of appetite, nausea, nervousness, unusual sweating, or vomiting. As your body adjusts to the drug, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you become dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; confusion; depression; difficult or painful urination; difficulty in breathing; palpitations; ringing or buzzing in the ears or difficulty in hearing; skin rash, hives, or itching; stomach pain; swelling of the feet; tightness in the chest; unexplained sore throat and fever; unusual bleeding or bruising; unusual fatigue or weakness; unusual weight gain; wheezing; or yellowing of the eyes or skin. INTERACTIONS Diflunisal interacts with several other types of medications: 1. Anticoagulants (blood thinners, such as warfarin), in combination with diflunisal, can lead to an increase in bleeding complications. 2. Aspirin, salicylates, or other anti-inflammatory medications may cause increased stomach irritation. 3. Antacids can lower blood diflunisal concentrations, decreasing its effectiveness. 4. Diflunisal can increase the blood concentrations and side effects of acetaminophen. 5. Diflunisal can increase or decrease some effects of hydrochlorothiazide and furosemide. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Before you take this medication, it is important to tell your doctor if you have ever had unusual or allergic reactions to diflunisal or any chemically related drug (including aspirin or other salicylates, diclofenac, fenoprofen, flurbiprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, oxyphenbutazone, phenylbutazone, piroxicam, sulindac, or tolmetin). * Before you take this medication, tell your doctor if you now have or if you have ever had bleeding problems, colitis, stomach ulcers or other stomach problems, epilepsy, heart disease, high blood pressure, asthma, kidney disease, liver disease, mental illness, or Parkinson's disease. * Be sure to tell your doctor if this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Because diflunisal can prolong your bleeding time, it is important to tell your doctor or dentist that you are taking this drug before having surgery or any other medical or dental treatment. * Stomach problems are more likely to occur if you take aspirin regularly or drink alcohol while being treated with this medication. These should, therefore, be avoided (unless your doctor directs you to do otherwise). * Be sure to tell your doctor if you are pregnant. Although studies in humans have not been conducted, unwanted side effects (defects in the spine and ribs) have been reported in the offspring of animals that received diflunisal during pregnancy. If taken during the last three months of pregnancy, this drug can cause heart problems in the fetus; it can also prolong labor. Also, tell your doctor if you are breast-feeding an infant. Because diflunisal can pass into breast milk, breast-feeding while taking this drug is not recommended. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Dolobid 250 mg,Dolobid 500 mg 0312801.scf,0312802.scf diflunisal logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle diflunisal 03129.TXT Copyright (C) 1993 Publications International, Ltd. digitoxin _________________________ BRAND NAME (Manufacturer) digitoxin (various manufacturers) TYPE OF DRUG Cardiac glycoside INGREDIENT digitoxin DOSAGE FORM Tablets (0.1 mg and 0.2 mg) STORAGE Store at room temperature in a tightly closed container. Digitoxin belongs to a group of drugs known as digitalis glycosides. It is used to treat heart arrhythmias and congestive heart failure. Digitoxin improves the strength and efficiency of the heart and controls the heart rhythm. TREATMENT To avoid stomach irritation, take digitoxin with food, water, or milk (unless your doctor directs you to do otherwise). In order to become accustomed to taking this medication, try to take it at the same time each day. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss two or more doses, check with your doctor. Digitoxin does not cure heart failure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Drowsiness, headache, loss of appetite, nausea, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bad dreams, blurred vision, breast enlargement (in both sexes), confusion, depression, disorientation, hallucinations, muscle weakness, palpitations, or tingling sensations. INTERACTIONS Digitoxin interacts with several other types of medications: 1. Barbiturates, phenytoin, aminoglutethimide, levodopa, penicillamine, phenylbutazone, and rifampin can decrease the blood levels and effectiveness of digitoxin. 2. The absorption of digitoxin from the gastrointestinal tract is reduced when it is taken with colestipol, cholestyramine, metoclopramide, antacids, neomycin, antineoplastic (anticancer) drugs, or sulfasalazine. 3. Tetracycline can increase the absorption of digitoxin from the gastrointestinal tract, which can increase the risk of side effects. 4. Spironolactone can unpredictably increase or decrease the side effects of digitoxin. 5. Concurrent use of quinidine, procainamide, hydroxychloroquine, calcium, reserpine, ephedrine, or beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, and timolol) with digitoxin can lead to additive effects on the heart. 6. The dosage of digitoxin may require adjustment if therapy with thyroid hormones, methimazole, or propylthiouracil is started. 7. Concurrent use of digitoxin and quinidine, quinine, erythromycin, amiodarone, benzodiazepine tranquilizers, diltiazem, nifedipine, or verapamil can increase the blood levels and the side effects of digitoxin. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to digitoxin or any other digitalis glycoside. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood electrolyte disorders (too much or too little calcium, magnesium, or potassium), heart disease, kidney disease, lung disease, liver disease, or thyroid disease. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Check with your doctor or pharmacist before taking any over-the-counter (nonprescription) allergy, asthma, cough, cold, diet, or sinus products. Some of these products can increase the side effects of digitoxin. * Do not stop taking this medication unless you first check with your doctor. Stopping abruptly may lead to a worsening of your condition. * While you are taking digitoxin, your doctor may want you to check your pulse every day. If your pulse is slower than your doctor has told you it should be or if the rhythm is irregular, CONTACT YOUR DOCTOR IMMEDIATELY. * Be sure to tell your doctor if you are pregnant. Although digitoxin appears to be safe during pregnancy, extensive studies in humans have not been conducted. In addition, the dosage of digitoxin required to control your disorder may change during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known if digitoxin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. digitoxin pagetitle digitoxin 03130.TXT Copyright (C) 1993 Publications International, Ltd. digoxin _________________________ BRAND NAMES (Manufacturers) digoxin (various manufacturers) Lanoxicaps (Burroughs Wellcome) Lanoxin (Burroughs Wellcome) TYPE OF DRUG Cardiac glycoside INGREDIENT digoxin DOSAGE FORMS Tablets (0.125 mg, 0.25 mg, and 0.5 mg) Capsules (0.05 mg, 0.1 mg, and 0.2 mg) Pediatric elixir (0.05 mg per ml, with 10% alcohol) STORAGE Digoxin tablets, capsules, and pediatric elixir should be stored at room temperature in tightly closed, light-resistant containers. This medication should never be frozen. Digoxin is used to treat heart arrhythmias and congestive heart failure. It works directly on the muscle of the heart to strengthen the heartbeat and improve heart rhythm and contraction. TREATMENT To avoid stomach irritation, take digoxin with water or with food. Try to take it at the same time every day. Measure the dose of the pediatric elixir carefully with the dropper provided. An ordinary kitchen teaspoon is not accurate enough. Antacids decrease the absorption of digoxin from the gastrointestinal tract. Therefore, if you are taking both digoxin and an antacid, the dose of digoxin should be taken one hour before or two hours after a dose of antacids. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss more than two doses of digoxin, contact your doctor. Digoxin does not cure congestive heart failure, but it will help to control the condition as long as you continue to take the medication. SIDE EFFECTS Minor. Apathy, diarrhea, drowsiness, headache, muscle weakness, or tiredness. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about disorientation, enlarged and painful breasts (in both sexes), hallucinations, loss of appetite, mental depression, nausea, palpitations, severe abdominal pain, slowed heart rate, visual disturbances (such as blurred or yellow vision), or vomiting. INTERACTIONS Digoxin interacts with several other types of medications (interactions may vary depending upon the dosage form of digoxin being used): 1. Penicillamine, antiseizure medications, rifampin, amino-glutethimide, and levodopa can decrease the blood levels and, therefore, the effectiveness of digoxin. 2. Erythromycin, amiodarone, captopril, benzodiazepine tranquilizers, flecainide, tetracycline, hydroxychloroquine, ibuprofen, indomethacin, verapamil, nifedipine, diltiazem, quinidine, quinine, and spironolactone can increase the blood levels of digoxin, which can lead to an increase in side effects. 3. Thyroid hormone, propylthiouracil, and methimazole can change the dosage requirements of digoxin. 4. Antacids, kaolin-pectin, sulfasalazine, aminosalicylic acid, metoclopramide, antineoplastic agents (anticancer drugs), neomycin, colestipol, and cholestyramine can decrease the absorption of digoxin from the gastrointestinal tract, decreasing its effectiveness. 5. Calcium, tolbutamide, and reserpine can increase the side effects of digoxin. 6. Diuretics (water pills) and adrenocorticosteroids (cortisone-like medications) can cause hypokalemia (low potassium blood levels). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to digoxin, digitoxin, or any other digitalis glycoside. * Tell your doctor if you now have or if you have ever had kidney disease, lung disease, thyroid disease, hypokalemia (low blood levels of potassium), or hypercalcemia (high blood levels of calcium). * The pharmacologic activity of the different brands of this drug varies widely--the tablets dissolve in the stomach and bowel at different rates and to varying degrees. Because of this variability, it is important not to change brands of the drug without consulting your doctor. * Meals high in bran fiber may reduce the absorption of digoxin from the gastrointestinal tract. Avoid these types of meals when taking your dose of medication. * Your doctor may want you to take your pulse daily while you are using digoxin. Contact your doctor if your pulse becomes slower than what your doctor tells you is normal, or if it drops below 50 beats per minute. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Before taking any over-the-counter (nonprescription) asthma, allergy, cough, cold, sinus, or diet product, be sure to check with your doctor or pharmacist. Some of these drugs can increase the side effects of digoxin. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe during pregnancy, extensive studies in humans have not been conducted. In addition, the dosage of digoxin required to control your symptoms may change during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of digoxin pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Lanoxin 0.125 mg,Lanoxin 0.25 mg 0313001.scf,0313002.scf digoxin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle digoxin 03131.TXT Copyright (C) 1993 Publications International, Ltd. dihydrotachysterol _________________________ BRAND NAMES (Manufacturers) dihydrotachysterol or DHT (Roxane) Hytakerol (Winthrop) TYPE OF DRUG Vitamin D analog INGREDIENT dihydrotachysterol DOSAGE FORMS Tablets (0.125 mg, 0.2 mg, and 0.4 mg) Capsules (0.125 mg) Oral solution (0.25 mg per ml in oil) Oral concentrate (0.2 mg per ml, with 20% alcohol) STORAGE Dihydrotachysterol tablets, capsules, oral solution, and oral concentrate should be stored at room temperature in tightly closed, light-resistant containers. This medication should never be frozen. Vitamin D is essential to many body systems (including muscle and heart function). Dihydrotachysterol is a vitamin D analog--it raises blood calcium levels. This medication is used to treat tetany and hypoparathyroidism, conditions characterized by low blood calcium levels. TREATMENT You can take dihydrotachysterol either on an empty stomach or with food or milk (as directed by your doctor). Each dose of the oral solution form of this medication should be measured carefully with the dropper provided. The solution can then be swallowed directly or mixed with fruit juice, cereal, or other foods. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose; just return to your regular dosing schedule. Do not double the dose. SIDE EFFECTS Minor. None, at the dosages normally prescribed. Major. The side effects associated with dihydrotachysterol therapy are usually the result of too much medication (vitamin D intoxication). Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, bone pain, constipation, dry mouth, headache, increased thirst, increased urination, irritability, loss of appetite, mental disorders, metallic taste in the mouth, muscle pain, nausea, palpitations, runny nose, vomiting, weakness, or weight loss. INTERACTIONS This drug interacts with several other drugs. 1. If you are being treated for hypoparathyroidism, concurrent use of dihydrotachysterol and thiazide diuretics (water pills) can lead to hypercalcemia (high blood calcium levels). 2. The effects of this medication may be increased or decreased by digoxin, antacids, verapamil, or cholestyramine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to dihydrotachysterol, calcitriol, calcifediol, ergocalciferol, or vitamin D. * Before starting to take this medication, it is very important that you tell your doctor if you now have or if you have ever had heart or blood vessel disease, hypercalcemia, hyperphosphatemia, vitamin D intoxication, or sarcoidosis. * Before taking any over-the-counter (nonprescription) products that contain calcium, phosphates, magnesium, or vitamin D, check with your doctor. These ingredients can increase the side effects of dihydrotachysterol. * Dihydrotachysterol is more expensive than vitamin D products, but it is often prescribed instead of vitamin D because it is faster-acting and does not persist in the body once therapy is stopped. * Be sure to tell your doctor if you are pregnant. Although dihydrotachysterol has not been studied during pregnancy in humans, birth defects have been reported in the offspring of animals that received large doses of this medication during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known if this drug passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. dihydrotachysterolnor. pagetitle dihydrotachysterol 03132.TXT Copyright (C) 1993 Publications International, Ltd. diltiazem _________________________ BRAND NAMES (Manufacturers) Cardizem (Marion-Merrell Dow) Cardizem CD (Marion-Merrell Dow) Cardizem SR (Marion-Merrell Dow) TYPE OF DRUG Antianginal and antihypertensive INGREDIENT diltiazem DOSAGE FORMS Extended-release capsules (180 mg, 240 mg, and 300 mg) Tablets (30 mg, 60 mg, 90 mg, and 120 mg) Sustained-release capsules (60 mg, 90 mg, and 120 mg) STORAGE Diltiazem should be stored at room temperature in a tightly closed container. This medication is used to prevent the symptoms of angina (chest pain). It belongs to a group of drugs known as calcium channel blockers. It is unclear exactly how it does so, but diltiazem dilates the blood vessels of the heart and increases the amount of oxygen that reaches the heart muscle. This drug is also prescribed to lower blood pressure in patients with hypertension. TREATMENT If stomach irritation occurs, diltiazem can be taken either on an empty stomach or with meals, as directed by your doctor. The sustained-release capsules should be swallowed whole; chewing, crushing, or crumbling them destroys their controlled-release activity and possibly increases the side effects. In order to become accustomed to taking this medication, try to take it at the same times each day. However, Diltiazem does not relieve chest pain once the pain has begun; this medication should be used to prevent angina attacks. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is within four hours of the next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. This medication does not cure angina, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, drowsiness, headache, insomnia, light-headedness, nausea, nervousness, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. This drug can increase your sensitivity to sunlight. Therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To avoid dizziness when you stand, relax and contract the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, depression, fainting, fatigue, flushing, fluid retention, hallucinations, palpitations, skin rash, tingling in the fingers or toes, unusual weakness, or yellowing of the eyes or skin. INTERACTIONS Diltiazem can interact with several other medications: 1. Diltiazem should be used cautiously with beta blockers (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, propranolol, pindolol, and timolol), digitoxin, digoxin, or disopyramide. Side effects on the heart may be increased by the concurrent use of these medications. 2. Cimetidine can decrease the elimination of diltiazem from the body, which can increase the risk of side effects. 3. Diltiazem can increase the blood concentrations of carbamazepine and cyclosporine, which can increase the risk of side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to diltiazem. * Be sure to tell your doctor if you now have or if you have ever had bradycardia (slow heartbeat), heart block, heart failure, kidney disease, liver disease, low blood pressure, or sick sinus syndrome. * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * To prevent fainting while taking this drug, avoid drinking large amounts of alcohol. Also, avoid prolonged standing and strenuous exercise in hot weather. * Be sure to tell your doctor if you are pregnant. Extensive studies in pregnant women have not been conducted, but birth defects have been reported in the offspring of animals that received large doses of diltiazem during pregnancy. It is also known that diltiazem passes into breast milk. If you are breast-feeding an infant while being treated with this medication, tell your doctor. Unless directed to do otherwise, breast-feeding is not recommended at this time. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Cardizem 0313201.scf diltiazem logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle diltiazem 03133.TXT Copyright (C) 1993 Publications International, Ltd. diphenhydramine _________________________ BRAND NAMES (Manufacturers) AllerMax (Pfeiffer) Belix [*] (Halsey) Benadryl [*] (Parke-Davis) Benadryl Kapseals (Parke-Davis) Benylin Cough Syrup [*] (Parke-Davis) Bydramine Cough Syrup [*] (Major) Compoz [*] (Jeffrey Martin) Diphen Cough Syrup [*] (My-K Lab) diphenhydramine hydrochloride (various manufacturers) Dormarex 2 [*] (Republic) Hydramine [*] (Goldline) Nervine Nighttime Sleep Aid [*] (Miles) Nordryl (Vortech) Nytol [*] (Block) Sleep-Eze 3 [*] (Whitehall) Sominex 2 [*] (Beecham) Tusstat (Century) Twilite [*] (Pfeiffer) Unisom Nighttime Sleep Aid (Leeming) * Available over-the-counter (without a prescription) TYPE OF DRUG Antihistamine and sedative/hypnotic INGREDIENT diphenhydramine DOSAGE FORMS Tablets (50 mg) Capsules (25 mg and 50 mg) Elixir (12.5 mg per 5-ml spoonful, with 14% alcohol) Oral syrup (12.5 mg per 5-ml spoonful, with 5% alcohol) STORAGE Store at room temperature in a tightly closed container. Diphenhydramine belongs to a group of drugs known as antihistamines (antihistamines block the action of histamine, a chemical that is released by the body during an allergic reaction). It is, therefore, used to treat or prevent symptoms of allergy. It is also used to treat motion sickness and Parkinson's disease, and it is used as a nighttime sleeping aid and nonnarcotic cough suppressant. TREATMENT To avoid stomach upset, take diphenhydramine with food, milk, or water (unless your doctor directs you otherwise). The elixir and oral syrup forms of this medication should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision; confusion; constipation; diarrhea; dizziness; dry mouth, throat, or nose; headache; irritability; loss of appetite; nausea; restlessness; stomach upset; or unusual increase in sweating. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). To reduce mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about changes in menstruation, clumsiness, difficult or painful urination, feeling faint, flushing of the face, hallucinations, palpitations, ringing or buzzing in the ears, rash, seizures, shortness of breath, sleeping disorders, sore throat or fever, tightness in the chest, unusual bleeding or bruising, or unusual tiredness or weakness. INTERACTIONS Diphenhydramine interacts with several other types of medications: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, and tranylcypromine) can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. Diphenhydramine can also interfere with the activity of oral anticoagulants (blood thinners, such as warfarin) and decrease their effectiveness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to diphenhydramine or to any other antihistamine (such as astemizole, azatadine, brompheniramine, carbinoxamine, chlorpheniramine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenylpyraline, doxylamine, hydroxyzine, phenidamine, promethazine, pyrilamine, terfenadine, trimeprazine, tripelennamine, and triprolidine). * Tell your doctor if you now have or if you have ever had asthma, blood vessel disease, glaucoma, high blood pressure, kidney disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * Diphenhydramine can cause drowsiness or dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous equipment, may be decreased. Appropriate caution should, therefore, be taken. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of diphenhydramine pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. diphenhydramine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle diphenhydramine Benadryl,Benadryl Kapseals 0313301.scf,0313302.scf, 03134.TXT Copyright (C) 1993 Publications International, Ltd. diphenoxylate and atropine combination _________________________ BRAND NAMES (Manufacturers) Diphenatol (Rugby) diphenoxylate hydrochloride with atropine sulfate (various manufacturers) Lofene (Lannett) Logen (Goldline) Lomanate (Barre) Lomotil (Searle) Lonox (Geneva Generics) Low-Quel (Halsey) TYPE OF DRUG Antidiarrheal (antispasmodic and anticholinergic) INGREDIENTS diphenoxylate and atropine DOSAGE FORMS Tablets (2.5 mg diphenoxylate and 0.025 mg atropine) Oral liquid (2.5 mg diphenoxylate and 0.025 mg atropine per 5-ml spoonful, with 15% alcohol) STORAGE Diphenoxylate and atropine combination tablets and oral liquid should be stored at room temperature in tightly closed, light-resistant containers. Neither form should be frozen. Diphenoxylate and atropine combination is used to treat severe diarrhea. Diphenoxylate is related to the narcotic analgesics and acts by slowing the movement of the gastrointestinal tract. Small amounts of atropine are added to this medication in order to prevent abuse of the narcotic diphenoxylate. TREATMENT In order to avoid stomach upset, you can take this medication with food or with a full glass of water or milk. The oral liquid form of this medication should be measured carefully using a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, constipation, dizziness, drowsiness, dry mouth, flushing, headache, loss of appetite, nervousness, sweating, or swollen gums. These side effects should disappear as your body adjusts to the medication. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal pain, bloating, breathing difficulties, depression, difficult or painful urination, false sense of well-being, fever, hives, itching, numbness in the fingers or toes, palpitations, rash, severe nausea, vomiting, or weakness. INTERACTIONS This medication interacts with several other types of medications: 1. Concurrent use of this medication with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor (tranylcypromine, phenelzine, isocarboxazid, and pargyline) taken within 14 days of this medication can lead to unpredictable and severe side effects. 3. The side effects of the atropine component of this medication may be increased by amantadine, haloperidol, phenothiazine tranquilizers, procainamide, and quinidine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to diphenoxylate or to atropine. * Tell your doctor if you now have or if you have ever had drug-induced diarrhea, gallstones or gallbladder disease, glaucoma, heart disease, hiatal hernia, high blood pressure, kidney disease, liver disease, lung disease, myasthenia gravis, enlarged prostate gland, thyroid disease, or ulcerative colitis. * If this medication makes you dizzy or drowsy, you should avoid taking part in any activity that requires alertness, such as driving a car or operating any potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this product contains diphenoxylate, it has the potential for abuse and must be used with caution. Tolerance develops quickly; do not increase the dosage or stop taking the drug unless you first consult your doctor. If you have been taking large amounts of this medication for long periods and then stop abruptly, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually. * Check with your doctor if your diarrhea does not subside within two to three days. Unless your doctor specifically directs otherwise, you should not take this medication for more than five days. * While taking this medication, drink lots of fluids to replace those lost with the diarrhea. * Be sure to tell your doctor if you are pregnant. Although this medication has been shown to be safe in animals, its effects in humans during pregnancy have not been thoroughly studied. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Lomotil 0313401.scf diphenoxylate and atropine combinationo logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle diphenoxylate and atropine combination 03103.TXT Copyright (C) 1993 Publications International, Ltd. codeine _________________________ BRAND NAMES (Manufacturers) Codeine Phosphate (various manufacturers) Codeine Sulfate (various manufacturers) TYPE OF DRUG Analgesic and cough suppressant INGREDIENT codeine DOSAGE FORM Tablets (15 mg, 30 mg, and 60 mg) STORAGE Codeine tablets should be stored at room temperature in a tightly closed, light-resistant container. Codeine is a narcotic analgesic that acts directly on the central nervous system (brain and spinal cord). It is used to relieve mild to moderate pain or to suppress coughing. TREATMENT In order to avoid stomach upset, you can take codeine with food or milk. This drug works best if you take it at the onset of pain, rather than waiting until the pain becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, painful or difficult urination, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy, light-headed, or nauseated, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, breathing difficulties, excitation, fatigue, palpitations, rash, restlessness, sore throat and fever, tremors, or weakness. INTERACTIONS Codeine interacts with several other types of medications: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. 3. Cimetidine, combined with this medication, can cause confusion, disorientation, and shortness of breath. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to codeine or to any other narcotic analgesics (such as hydrocodone, hydromorphone, meperidine, methadone, morphine, oxycodone, and propoxyphene). * Tell your doctor if you now have or if you have ever had acute abdominal conditions, asthma, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, emotional disorders, prostate disease, thyroid disease, or urethral stricture. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Because this product contains codeine, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days (unless your doctor directs you to do so). Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating) when you stop taking it. Your doctor may, therefore, want to reduce the dosage gradually. * Be sure to tell your doctor if you are pregnant. The effects of this medication during the early stages of pregnancy have not been thoroughly studied in humans. However, codeine, used regularly in large doses during the later stages of pregnancy, can result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. codeine pagetitle codeine 03104.TXT Copyright (C) 1993 Publications International, Ltd. codeine and guaifenesin combination _________________________ BRAND NAMES (Manufacturers) Cheracol (Upjohn) Guiatuss A.C. (various manufacturers) Guiatussin with Codeine (Rugby) Mytussin AC (PBI) Nortussin with Codeine (Vortech) Robitussin A-C (Robins) TYPE OF DRUG Cough suppressant and expectorant combination INGREDIENT codeine and guaifenesin DOSAGE FORM Oral syrup (10 mg codeine and 100 mg guaifenesin per 5-ml spoonful, with 3.5% or 4.75% alcohol) STORAGE Codeine and guaifenesin combination should be stored at room temperature in a tightly closed container. This medication is used to relieve coughs due to colds or infections or inflammation of the upper respiratory tract. Guaifenesin is an expectorant, which loosens bronchial secretions. Codeine is a narcotic cough suppressant, which acts on the cough center in the brain. TREATMENT You can take codeine and guaifenesin combination syrup either on an empty stomach or, to avoid stomach irritation, with food or milk (as directed by your doctor). Each dose should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. To help loosen the mucus in the bronchi, you should drink a glass of water after each dose. If you miss a dose of this medication, take the missed one as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, nausea, restlessness, stomach upset, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Be sure to tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision; cold, clammy skin; confusion; difficulty in breathing; or fainting. INTERACTIONS Codeine and guaifenesin combination can interact with several other types of medications: 1. Concurrent use with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, other narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can lead to extreme drowsiness. 2. Use of a monoamine oxidase (MAO) inhibitor within 14 days of use of codeine and guaifenesin combination can lead to serious side effects. 3. Cimetidine combined with this medication can cause confusion, disorientation, and shortness of breath. Before starting to take codeine and guaifenesin combination, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to guaifenesin or codeine, or to other narcotics (such as hydrocodone, hydromorphone, meperidine, methadone, opium, oxycodone, propoxyphene, and pentazocine). * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had asthma, brain disease, enlarged prostate gland, gallstones or gallbladder disease, gastrointestinal diseases, heart disease, kidney disease, liver disease, lung disease, mental disorders, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in activities that require alertness, such as driving a car or operating potentially dangerous equipment. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * While you are taking this medication, drink several glasses of water a day to help loosen bronchial secretions, unless your doctor directs you to do otherwise. * Because this product contains codeine, it has the potential for abuse and must be used with caution. Tolerance may develop quickly; you should not use it in higher doses or for longer periods than recommended by your doctor. If you have been taking it for longer than several weeks, do not stop taking it until you first check with your doctor. Stopping the drug abruptly can lead to a withdrawal reaction (body aches, diarrhea, gooseflesh, vomiting, restlessness, runny nose, sneezing, sweating, trembling, or excessive yawning). Your doctor may, therefore, want to reduce your dosage gradually. * Be sure to tell your doctor if you are pregnant. Large amounts of codeine taken during pregnancy can lead to addiction in the developing fetus, resulting in withdrawal reactions in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Codeine may pass into breast milk and can cause extreme drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. codeine and guaifenesin combination pagetitle codeine and guaifenesin combination 03105.TXT Copyright (C) 1993 Publications International, Ltd. codeine and iodinated glycerol combination _________________________ BRAND NAMES (Manufacturers) Iophen-C (various manufacturers) Iotuss (Muro) Par Glycerol C (Par) Tussi-Organidin (Wallace) Tussi-R-Gen (Goldline) TYPE OF DRUG Cough suppressant and expectorant combination INGREDIENT codeine and iodinated glycerol DOSAGE FORM Oral liquid (10 mg codeine and 30 mg iodinated glycerol per 5-ml spoonful) STORAGE Codeine and iodinated glycerol combination should be stored at room temperature in a tightly closed container. Avoid exposure of this medication to high temperatures. This drug is used to relieve coughs due to colds or infection or inflammation of the upper respiratory tract. Iodinated glycerol is an expectorant, which loosens bronchial secretions. Codeine is a narcotic cough suppressant, which acts on the cough center in the brain. TREATMENT You can take codeine and iodinated glycerol combination on an empty stomach or, to avoid stomach irritation, with food or milk (as directed by your doctor). Each dose should be measured carefully with a specially designed 5-ml measuring spoon. To help loosen the mucus in the bronchi, you should drink a glass of water after each dose. If you miss a dose of this medication, take the missed one as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, nausea, restlessness, stomach upset, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision; cold, clammy skin; confusion; difficulty in breathing; fainting; skin rash; or swollen lymph nodes. INTERACTIONS This drug can interact with other types of drugs: 1. Concurrent use with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, other narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can lead to extreme drowsiness. 2. Use of a monoamine oxidase (MAO) inhibitor within 14 days of use of codeine and iodinated glycerol combination can lead to serious side effects. 3. The iodine component of iodinated glycerol can increase the side effects of lithium on the thyroid gland. It can also increase the effects of antithyroid medications. 4. Cimetidine combined with this medication can cause confusion, disorientation, and shortness of breath. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to codeine, or to other narcotics (such as hydrocodone, hydromorphone, meperidine, methadone, opium, oxycodone, propoxyphene, and pentazocine), or to iodinated glycerol, iodine, or iodine-containing dyes. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had acne, asthma, brain disease, cystic fibrosis, gallstones or gallbladder disease, gastrointestinal diseases, heart disease, kidney disease, liver disease, lung disease, mental disorders, enlarged prostate gland, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in activities that require alertness, such as driving a car or operating potentially dangerous equipment. * While you are taking this medication, drink several glasses of water a day to help loosen bronchial secretions, unless your doctor directs you to do otherwise. * Because this product contains codeine, it has the potential for abuse and must be used with caution. Tolerance may develop quickly; you should not use it in higher doses, or for longer periods, than recommended by your doctor. If you have been taking it for longer than several weeks, do not stop taking it until you first check with your doctor. Stopping the drug abruptly can lead to a withdrawal reaction (body aches, diarrhea, gooseflesh, vomiting, restlessness, runny nose, sneezing, sweating, trembling, or excessive yawning). Your doctor may, therefore, want to reduce your dosage gradually. * Be sure to tell your doctor if you are pregnant. This medication should not be taken during pregnancy. Large amounts of codeine taken during pregnancy can lead to addiction in the developing fetus, resulting in withdrawal reactions in the newborn infant. Iodinated glycerol can cause goiter (an enlarged thyroid gland) in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Both codeine and iodinated glycerol can pass into the breast milk and cause side effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. codeine and iodinated glycerol combinationsant pagetitle codeine and iodinated glycerol combination 03106.TXT Copyright (C) 1993 Publications International, Ltd. colchicine _________________________ BRAND NAMES (Manufacturers) colchicine (various manufacturers) Colchicine (Abbott) TYPE OF DRUG Antigout INGREDIENT colchicine DOSAGE FORM Tablets (0.5 mg, 0.6 mg, and 0.65 mg) STORAGE Colchicine should be stored at room temperature in a tightly closed, light-resistant container. Colchicine is used to relieve the symptoms of a gout attack and to prevent further attacks. Colchicine prevents the movement of uric acid crystals, which are responsible for the pain in the joints that occurs during an attack of gout. TREATMENT Colchicine can be taken on an empty stomach or with food or a full glass of water or milk (as directed by your doctor). If you are taking colchicine to control a gout attack, it is important that you understand how to take it and when it should be stopped. CHECK WITH YOUR DOCTOR. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, diarrhea, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about difficult or painful urination, fever, loss of hair, muscle pain, persistent diarrhea, skin rash, sore throat, tingling in the hands or feet, or unusual bleeding or bruising. INTERACTIONS Colchicine interacts with several other types of medications: 1. It can decrease absorption of vitamin B. 2. The action of colchicine can be blocked by vitamin C and can be enhanced by sodium bicarbonate or ammonium chloride. 3. Colchicine can increase the drowsiness caused by central nervous system depressants. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications. * Tell your doctor if you now have or if you have ever had blood disorders, gastrointestinal disorders, heart disease, kidney disease, or liver disease. * Large amounts of alcohol can increase the blood levels of uric acid, which can decrease the effectiveness of colchicine. Alcohol ingestion should, therefore, be limited while you are taking this medication. * Colchicine is not an analgesic (pain reliever) and does not relieve pain other than that of gout. * Be sure to tell your doctor if you are pregnant. Colchicine is not recommended for use during pregnancy because it has been reported to cause birth defects in both animals and humans. Also, tell your doctor if you are breast-feeding an infant. It is not known whether colchicine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. colchicineion 7 pagetitle colchicine 03107.TXT Copyright (C) 1993 Publications International, Ltd. colestipol _________________________ BRAND NAME (Manufacturer) Colestid (Upjohn) TYPE OF DRUG Antihyperlipidemic (lipid-lowering drug) INGREDIENT colestipol DOSAGE FORM Oral granules (5 g per level 5-ml measuring spoon) STORAGE Colestipol should be stored at room temperature in a tightly closed container. This medication is used to lower cholesterol levels. It chemically binds to bile salts in the gastrointestinal tract and prevents the body from producing cholesterol. TREATMENT Colestipol is usually taken before meals. Each dose should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The dose should then be added to at least three ounces of fluid (water, milk, fruit juice, or other carbonated or noncarbonated beverage). The mixture should be stirred and completely mixed (the granules do not completely dissolve). After the solution has been drunk, the glass should be refilled with the same beverage and this solution swallowed as well. This ensures that the whole dose is taken. The granules can also be mixed with soup, applesauce, or crushed pineapple. You should never take colestipol dry; you might accidentally inhale the granules, which could irritate your throat and lungs. If you miss a dose of this drug, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Colestipol does not cure hypercholesterolemia (high blood cholesterol levels), but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Anxiety, belching, constipation, diarrhea, dizziness, drowsiness, fatigue, gas, headache, hiccups, loss of appetite, nausea, stomach pain, vomiting, or weight loss or gain. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs otherwise). A stool softener may also be helpful; ask your pharmacist to recommend one. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about backaches; bleeding gums; bloating; bloody or black, tarry stools; difficult or painful urination; muscle or joint pains; rash or irritation of the skin, tongue, or rectal area; ringing in the ears; swollen glands; tingling sensations; unusual bleeding or bruising; or unusual weakness. INTERACTIONS Colestipol interferes with the absorption of a number of other drugs, including phenylbutazone, warfarin, thiazide diuretics (water pills), digoxin, penicillins, tetracycline, phenobarbital, folic acid, iron, thyroid hormones, oral vancomycin, adrenocorticosteroids, and the fat-soluble vitamins (vitamins A, D, E, and K). The effectiveness of these medications will be decreased by colestipol. To avoid this interaction, take the other medications one hour before or four to six hours after a dose of colestipol. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to any type of drug, especially to colestipol. * Before starting to take this drug, be sure to tell your doctor if you now have or if you have ever had bleeding disorders, biliary obstruction, heart disease, hemorrhoids, gallstones or gallbladder disease, kidney disease, malabsorptive disorders, stomach ulcers, or an obstructed intestine. * Colestipol should be used only in conjunction with a carefully regulated diet, weight reduction, or correction of other conditions that could be causing high blood cholesterol levels. * Be sure to tell your doctor if you are pregnant. Although colestipol appears to be safe (because none is absorbed into the bloodstream), extensive studies in humans during pregnancy have not been conducted. Also, be sure to tell your doctor if you are breast-feeding an infant. This medication can decrease absorption of some vitamins in the mother, which could result in decreased availability of the vitamins to the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. colestipolceiv pagetitle colestipol 03108.TXT Copyright (C) 1993 Publications International, Ltd. cortisone (systemic) _________________________ BRAND NAMES (Manufacturers) cortisone acetate (various manufacturers) Cortone Acetate (Merck Sharp & Dohme) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT cortisone DOSAGE FORM Tablets (5 mg, 10 mg, and 25 mg) STORAGE Cortisone tablets should be stored at room temperature in a tightly closed container. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Cortisone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to treat a variety of disorders, including hormonal disorders; asthma; blood diseases; certain cancers; eye disorders; gastrointestinal disturbances, such as ulcerative colitis; respiratory diseases; and inflammations such as arthritis, dermatitis, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT In order to prevent stomach irritation, you can take cortisone with food or with milk. If you are taking only one dose of this medication each day, try to take it before 9:00 A.M. It is important to try not to miss any doses of cortisone. However, if you do miss a dose of this medication, follow these guidelines: 1. If you are taking it more than once a day, take the missed dose as soon as possible and return to your regular schedule. If it is already time for the next dose, double the dose. 2. If you are taking this medication once a day, take the dose you missed as soon as possible, unless you don't remember until the next day. In that case, do not take the missed dose at all; just follow your regular dosing schedule. Do not double the next dose. 3. If you are taking this drug every other day, take it as soon as you remember. If you missed the scheduled time by a whole day, take it when you remember, then skip a day before you take the next dose. Do not double the dose. If you miss more than one dose of cortisone, CONTACT YOUR DOCTOR. SIDE EFFECTS Minor. Dizziness, false sense of well-being, fatigue, increased appetite, increased sweating, indigestion, menstrual irregularities, muscle weakness, nausea, reddening of the skin on the face, restlessness, sleep disorders, thinning of the skin, or weight gain. These side effects should disappear as your body adjusts to the medication. To help avoid potassium loss while using this drug, you can take your dose with a glass of fresh or frozen orange juice, or eat a banana each day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or take a salt substitute, however, before discussing it with your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal enlargement; acne or other skin problems; back or rib pain; bloody or black, tarry stools; blurred vision; convulsions; depression; eye pain; fever; glaucoma; growth impairment (in children); headaches; impaired healing of wounds; increased thirst and urination; mood changes; muscle wasting; nightmares; rapid weight gain (three to five pounds within a week); rash; severe abdominal pain; shortness of breath; sore throat; unusual bleeding or bruising; or unusual weakness. INTERACTIONS Cortisone interacts with several other types of medications: 1. Alcohol, aspirin, and anti-inflammatory medications (such as diflunisal, ibuprofen, indomethacin, ketoprofen, mefenamic acid, meclofenamate, naproxen, piroxicam, sulindac, and tolmetin) aggravate the stomach problems that may occur with use of this medication. 2. The dosage of oral anticoagulants (blood thinners, such as warfarin) and oral antidiabetic drugs or insulin may need to be altered when this medication is started or stopped. 3. The loss of potassium caused by cortisone can lead to serious side effects in individuals taking digoxin. Thiazide diuretics (water pills) and furosemide can increase the potassium loss caused by cortisone. 4. Phenobarbital, phenytoin, rifampin, and ephedrine can increase the elimination of cortisone from the body, thereby decreasing its effectiveness. 5. Oral contraceptives (birth control pills) and estrogen-containing drugs may decrease the elimination of this drug from the body, which can lead to an increase in side effects. 6. Cortisone can increase elimination of aspirin and isoniazid from the body, decreasing their effectiveness. 7. Cholestyramine and colestipol can chemically bind this medication in the stomach and gastrointestinal tract, preventing its absorption. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to cortisone or other adrenocorticosteroids (such as betamethasone, dexamethasone, hydrocortisone, methylprednisolone, paramethasone, prednisolone, prednisone, or triamcinolone). * Tell your doctor if you now have or if you have ever had bone disease, diabetes mellitus, emotional instability, glaucoma, fungal infections, heart disease, high blood pressure, high cholesterol levels, myasthenia gravis, peptic ulcers, osteoporosis, thyroid disease, tuberculosis, ulcerative colitis, kidney disease, or liver disease. * If you are using this medication for longer than a week, you may need to receive higher dosages if you are subjected to stress, such as serious infections, injury, or surgery. Discuss this with your doctor. * If you have been taking this drug for more than a week, do not stop taking it suddenly. If it is stopped suddenly, you may experience abdominal or back pain, dizziness, extreme weakness, fainting, fever, muscle or joint pain, nausea, vomiting, or shortness of breath. Your doctor may, therefore, want to reduce the dosage gradually. Never increase the dose or take the drug for longer than the prescribed time unless you first consult your doctor. * While you are taking this drug, you should not be vaccinated or immunized. This medication decreases the effectiveness of vaccines and can lead to infection if a live-virus vaccine is administered. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * If you are taking this medication for prolonged periods of time, you should wear or carry an identification card or notice indicating that you are taking an adrenocorticosteroid drug. * Because this drug can cause glaucoma and cataracts with long-term use, your doctor may want you to have your eyes examined by an ophthalmologist periodically during treatment. * This medication can raise blood sugar levels in diabetic patients. Blood sugar should, therefore, be monitored carefully with blood or urine tests when this medication is being taken. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk and can cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cortisone (systemic)ould pagetitle cortisone (systemic) 03109.TXT Copyright (C) 1993 Publications International, Ltd. cromolyn sodium (inhalation) _________________________ BRAND NAME (Manufacturer) Intal (Fisons) TYPE OF DRUG Antiallergic (antiasthmatic) INGREDIENT cromolyn DOSAGE FORMS Capsules (20 mg): for inhalation only Solution (20 mg per 2-ml ampule): for inhalation only Aerosol spray 8.1 g and 14.2 g (800 mcg per spray): for inhalation only STORAGE Cromolyn sodium capsules and solution should be kept at room temperature in tightly closed, light-resistant storage containers. The container of the aerosol form is pressurized; it should, therefore, never be punctured or broken. It should also be stored away from heat and direct sunlight. This medication is used to prevent asthma attacks. It is not effective in relieving asthma symptoms once an attack has begun. It works by preventing release of the body chemicals that are thought to be responsible for the symptoms of asthma or allergy. TREATMENT Cromolyn sodium capsules are for inhalation only--they should NOT be swallowed. The medication is not effective if swallowed. This medication comes packaged with instructions for use of the capsules with the Spinhaler device. It is very important that you completely understand how to use this device. Consult your doctor or pharmacist if you have any questions about administering this medication. The Spinhaler should be cleaned at least once a week. Take the Spinhaler apart and rinse it in clear, warm water. Do not use soap. Allow the inhaler to air-dry before you use it again. If properly cared for, the inhaler should last about six months. The solution form of this medication should be used only with a power-operated nebulizer equipped with a face mask. The solution form should never be used with a hand-held nebulizer. The aerosol form of this medication comes packaged with instructions for use. Read the instructions carefully; if you have any questions, check with your doctor or pharmacist. The aerosol can should be shaken well just before each dose is sprayed. The contents tend to settle on the bottom of the container, so it should be shaken to disperse the medication and equalize the doses. The 14.2 g container provides about 200 measured sprays, and the 8.1 g container provides about 112 measured sprays. Cromolyn sodium is most effective when therapy is started before contact with allergens (the suspected offending agents causing your allergy), so if you expect to be exposed to something to which you know you are allergic, it is a good idea to start taking your medication first. This medication will work most effectively when the level of medicine in your bloodstream is kept constant. It is best, therefore, that you try to take the doses at evenly spaced intervals throughout the day and night. For example, if you are to take four doses of this medication a day, the doses should be evenly spaced at six hour intervals. If you are using another inhaler to open up the lungs (a bronchodilator), it should be used 20 to 30 minutes before using cromolyn sodium. The full benefits of this medication may not become apparent for up to four weeks after you start to take it. If you miss a dose of this medication and remember within an hour or so, take the missed dose immediately. If more than an hour has passed, however, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of this medication. SIDE EFFECTS Minor. Cough, dizziness, drowsiness, headache, increased urination, nasal congestion, nasal itching, nausea, sneezing, stomach irritation, or tearing. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. This medication can cause mouth dryness, throat irritation, and hoarseness. Gargling and rinsing your mouth after each dose helps to prevent these effects. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about itching, joint swelling or pain, nosebleeds, nose burning, painful or increased urination, rash, swelling of the face or eyes, swollen glands, or wheezing. INTERACTIONS Cromolyn sodium should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs. * Patients who are allergic to lactose, milk, or milk products may be allergic to the capsule form of this drug. * Before starting to take this medication, tell your doctor if you now have or if you have ever had kidney or liver disease. * Do not stop taking this medication unless you first check with your doctor. Stopping the drug abruptly may lead to a worsening of your condition. * Be sure to tell your doctor if you are pregnant. Extensive safety studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether this drug passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cromolyn sodium (inhalation)cill pagetitle cromolyn sodium (inhalation) 03110.TXT Copyright (C) 1993 Publications International, Ltd. cromolyn sodium (nasal) _________________________ BRAND NAME (Manufacturer) Nasalcrom (Fisons) TYPE OF DRUG Antiallergic INGREDIENT cromolyn DOSAGE FORM Nasal solution (each spray delivers 5.2 mg) STORAGE Cromolyn sodium should be stored at room temperature in its original container. Cromolyn sodium nasal solution is used to prevent and treat allergic rhinitis (inflammation of the nasal passages resulting from allergies). Cromolyn sodium works by preventing the release of the body chemicals responsible for inflammation and swelling. TREATMENT This medication is for use within the nose only. The nasal passages should be cleared before administering the spray. You should inhale through the nose as you spray the solution. The container provides about 100 measured sprays. This medication is most effective when therapy is started before contact with allergens (the suspected offending agents causing your allergy), so if you expect to be exposed to something to which you know you are allergic, it is a good idea to start taking your medication first. This medication works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. The maximum benefits of this medication may not become fully apparent for up to four weeks after you have started therapy. If you miss a dose of this drug, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bad taste in the mouth, headaches, irritation or stinging, nasal burning, postnasal drip, or sneezing. These side effects should stop as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about nosebleeds or skin rash. INTERACTIONS Cromolyn sodium should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medication, especially to cromolyn sodium. * Be sure to tell your doctor if you now have or if you have ever had kidney or liver disease. * Do not stop taking this medication unless you first check with your doctor, even if the symptoms of your disorder disappear. Stopping the drug abruptly can lead to a worsening of your condition. Cromolyn sodium should be continued as long as you have contact with the substance causing your allergic symptoms. * Be sure to tell your doctor if you are pregnant. Extensive safety studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether cromolyn sodium passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cromolyn sodium (nasal) pagetitle cromolyn sodium (nasal) 03111.TXT Copyright (C) 1993 Publications International, Ltd. cyclandelate _________________________ BRAND NAMES (Manufacturers) Cyclan (Major) cyclandelate (various manufacturers) Cyclospasmol (Wyeth) TYPE OF DRUG Vasodilator INGREDIENT cyclandelate DOSAGE FORMS Tablets (200 mg and 400 mg) Capsules (200 mg and 400 mg) STORAGE Cyclandelate should be stored at room temperature in a tightly closed container. Cyclandelate is used to treat vascular (blood vessel) disease in the legs or brain. It acts directly on the muscle tissue of the blood vessels to increase the blood supply to various parts of the body. TREATMENT You can take cyclandelate on an empty stomach (unless your doctor gives you different instructions). However, if the drug causes stomach irritation, you may take it with food, milk, or antacids. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of this medication. SIDE EFFECTS Minor. Dizziness, drowsiness, flushing, headache, heartburn, stomach distress, or sweating. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about palpitations, skin rash, tingling in the hands or feet, or weakness. INTERACTIONS Cyclandelate does not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to cyclandelate. * Before starting to take this medication, tell your doctor if you have ever had angina, bleeding disorders, glaucoma, or a heart attack. * A government panel has recently reviewed the effectiveness of this medication in the treatment of leg cramps and hardening of the arteries and in the prevention of stroke. This drug may not be as effective as was once thought. Discuss this with your doctor. * Before taking any over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, or diet medication, check with your doctor or pharmacist. Some of these products can decrease the effectiveness of cyclandelate. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * The beneficial effects of this medication may be decreased by the nicotine in cigarettes. Try to stop smoking. * To prevent dizziness and fainting while taking this medication, avoid getting overheated by exercising strenuously in hot weather or by taking hot baths, showers, and saunas. * Be sure to tell your doctor if you are pregnant. Although cyclandelate appears to be safe during pregnancy, extensive studies in humans have not been conducted, and cautious use is warranted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether cyclandelate passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cyclandelate as pagetitle cyclandelate 03112.TXT Copyright (C) 1993 Publications International, Ltd. cyclobenzaprine _________________________ BRAND NAMES (Manufacturers) cyclobenzaprine (various manufacturers) Flexeril (Merck Sharp & Dohme) TYPE OF DRUG Muscle relaxant INGREDIENT cyclobenzaprine DOSAGE FORM Tablets (10 mg) STORAGE Cyclobenzaprine tablets should be stored at room temperature in a tightly closed container. Cyclobenzaprine is prescribed to relieve muscle pain and stiffness caused by injuries such as sprains or strains. It is not clear how this drug works, but it may block reflexes involved in producing and maintaining muscle spasms. It does not act directly on tense muscles. TREATMENT In order to avoid stomach irritation, you can take cyclobenzaprine with food or with a full glass of water or milk. If you miss a dose of this medication and remember within an hour, take the missed dose; then return to your regular dosing schedule. If more than an hour has passed, do not take the missed dose at all; just return to your dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, black tongue, blurred vision, constipation, diarrhea, dizziness, drowsiness, dry mouth, fatigue, indigestion, insomnia, loss of appetite, muscle pain, nausea, nervousness, sweating, unpleasant taste in the mouth, vomiting, or weakness. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum, or suck on ice chips or hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, depression, difficulty in urinating, disorientation, hallucinations, headache, itching, numbness in the fingers or toes, palpitations, rash, swelling of the face or tongue, tremors, or yellowing of your skin or eyes. INTERACTIONS Cyclobenzaprine interacts with several other types of drugs: 1. Concurrent use of cyclobenzaprine with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, antianxiety medications, narcotics, pain medications, tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. Cyclobenzaprine can block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Use of this drug within 14 days of a monoamine oxidase (MAO) inhibitor (tranylcypromine, phenelzine, isocarboxazid, and pargyline) can lead to severe reactions and high blood pressure. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to cyclobenzaprine or to tricyclic antidepressants (such as amitriptyline, amoxapine, desipramine, doxepin, imipramine, nortriptyline, protriptyline, and trimipramine). * Tell your doctor if you have ever had blood clots, epilepsy, heart disease, a heart attack, narrow-angle glaucoma, thyroid disease, or urinary retention. * Use of cyclobenzaprine for periods longer than two to three weeks is not recommended because there is no evidence of benefit with prolonged use and because muscle spasm caused by sprain or strain is generally of short duration. * This medication should not be taken as a substitute for rest, physical therapy, or other measures recommended by your doctor to treat your condition. * If this medication makes you dizzy or drowsy or blurs your vision, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * If you have been taking large doses of this medication for prolonged periods, you may experience nausea, headache, or fatigue when you stop taking it, until your body adjusts to the absence of the drug. * Be sure to tell your doctor if you are pregnant. Although cyclobenzaprine appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether cyclobenzaprine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Flexeril 0311201.scf cyclobenzaprine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle cyclobenzaprine 03113.TXT Copyright (C) 1993 Publications International, Ltd. cyclophosphamide _________________________ BRAND NAME (Manufacturer) Cytoxan (Bristol Myers USP) TYPE OF DRUG Antineoplastic (anticancer drug) INGREDIENT cyclophosphamide DOSAGE FORM Tablets (25 mg and 50 mg) STORAGE Cyclophosphamide should be stored at room temperature in a tightly closed container. Cyclophosphamide belongs to a group of drugs known as alkylating agents or nitrogen mustards. It is used to treat a variety of cancers. Cyclophosphamide works by binding to the rapidly growing cancer cells, preventing their multiplication and growth. Cyclophosphamide has also been used as an immunosuppressant in order to treat severe rheumatoid arthritis. TREATMENT In order to obtain maximum benefit, you should take cyclophosphamide on an empty stomach. However, if stomach upset occurs, you can take it with food or milk (unless your doctor directs you to do otherwise). The timing of the doses of this anticancer medication is important. Be sure you completely understand your doctor's instructions on how and when this medication should be taken. Try not to miss any doses. If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, loss of appetite, nausea, or vomiting. These side effects may disappear as your body adjusts to the medication. However, it is important to continue taking this medication despite the nausea and vomiting that may occur. Cyclophosphamide also causes hair loss, which is reversible when the medication is stopped. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blood in the urine, chills, cough, darkening of the skin or fingernails, difficult or painful urination, fever, menstrual irregularities, mouth sores, sore throat, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS This drug interacts with several other types of drugs: 1. It can decrease the absorption of digoxin from the gastrointestinal tract. 2. Phenobarbital can increase the side effects of cyclophosphamide. 3. Concurrent use of allopurinol, chloramphenicol, chlorpromazine, or thiazide diuretics (water pills) with cyclophosphamide can lead to bone marrow suppression. 4. It can increase the effect of warfarin (blood thinner). Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to cyclophosphamide. * Before starting to take this medication, be sure to tell your doctor if you have ever had blood disorders, chronic or recurrent infections, gout, kidney disease, or liver disease. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Cyclophosphamide tablets contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (fainting, shortness of breath, rash) in certain susceptible individuals. * You should not receive any immunizations or vaccinations while taking this medication. Cyclophosphamide decreases the effectiveness of the vaccine and may result in an infection if a live-virus vaccine is administered. * It is important to drink plenty of fluids (three quarts each day) while taking this medication. If the drug is allowed to concentrate in the bladder, it can cause bloody urine and can damage the kidneys or bladder. * This medication can lower your platelet count, which can decrease your body's ability to form blood clots. You should, therefore, be especially careful while brushing your teeth, flossing, or using toothpicks, razors, or fingernail scissors. Try to avoid falls and other injuries. * This drug can decrease fertility in both men and women. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported in both animals and humans whose mothers received cyclophosphamide during pregnancy. The risks should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. Since the drug passes into breast milk, a woman should stop breast-feeding before starting cyclophosphamide therapy. Women of childbearing potential who are not already pregnant when treatment with cyclophosphamide is begun need to use some sort of birth control to prevent pregnancy from occurring. However, oral contraceptives (birth control pills) may not be recommended by your doctor since they may interfere with this medication. Consult with your physician about alternative methods of birth control. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cyclophosphamideing pagetitle cyclophosphamide 03114.TXT Copyright (C) 1993 Publications International, Ltd. cyclosporine _________________________ BRAND NAME (Manufacturer) Sandimmune (Sandoz) TYPE OF DRUG Immunosuppressant INGREDIENT cyclosporine DOSAGE FORMS Oral solution (100 mg per ml, with 12.5% alcohol) Soft gelatin capsules (25 mg and 100 mg) STORAGE Cyclosporine oral solution and capsules should be stored in the original container at room temperature. This medication should never be refrigerated or frozen. Once the solution has been opened, it should be used within two months. Cyclosporine is used to prevent organ rejection after kidney, liver, and heart transplants. It is not clearly understood how cyclosporine works, but it appears to prevent the body's rejection of foreign tissue. TREATMENT To make it more palatable, the solution should be diluted with milk, chocolate milk, or orange juice (preferably at room temperature). The dose should be measured carefully with the dropper provided and placed in one of the fluids listed above. Use a glass container (cyclosporine chemically binds to wax-lined and plastic surfaces). Stir well and drink at once--do not allow the mixture to stand before drinking. Refill the glass with the same beverage and drink this solution to ensure that the whole dose is taken. The dropper should be wiped with a clean towel after use and stored in its container. If the dropper has been cleaned, make sure it is completely dry before using it again. It is important not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal discomfort, diarrhea, flushing, headache, hiccups, leg cramps, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about acne; bleeding, tender, or enlarged gums; convulsions; difficult or painful urination; enlarged and painful breasts (in both sexes); fever; hair growth; hearing loss; muscle pain; rapid weight gain (three to five pounds within a week); sore throat; tingling of the hands or feet; tremors; unusual bleeding or bruising; or yellowing of the eyes or skin. INTERACTIONS Cyclosporine interacts with several other types of drugs: 1. Carbamazepine, isoniazid, rifampin, phenytoin, phenobarbital, and trimethoprim/sulfamethoxazole can decrease the blood levels of cyclosporine, decreasing its effectiveness. 2. Cimetidine, diltiazem, erythromycin, ketoconazole, oral contraceptives, danazol, and amphotericin B can increase the blood levels of cyclosporine, which can lead to an increase in side effects. 3. Tell your doctor if you are currently taking corticosteroids, verapamil, or nonsteroidal anti-inflammatory drugs. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to cyclosporine or to polyoxyethylated castor oil. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had hypertension (high blood pressure) or gastrointestinal disorders. * Repeated laboratory tests are necessary while you are taking cyclosporine to ensure that you are receiving the correct dosage and to avoid liver and kidney damage. * Certain cancers have occurred in patients receiving cyclosporine and other immunosuppressant drugs after transplantation. No causal effect has been established, however. * Do not stop taking this medication without first consulting your doctor. If the drug is stopped abruptly, organ rejection may occur. Your doctor may, therefore, want to reduce your dosage gradually or start you on another drug if treatment with this drug is to be discontinued. * Be sure to tell your doctor if you are pregnant. Although extensive studies in humans have not been conducted, cyclosporine has caused fetal damage when administered to animals. Also, tell your doctor if you are breast-feeding, because cyclosporine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cyclosporineRUG pagetitle cyclosporine 03115.TXT Copyright (C) 1993 Publications International, Ltd. cyproheptadine _________________________ BRAND NAMES (Manufacturers) cyproheptadine hydrochloride (various manufacturers) Periactin (Merck Sharp & Dohme) TYPE OF DRUG Antihistamine INGREDIENT cyproheptadine DOSAGE FORMS Tablets (4 mg) Oral syrup (2 mg per 5-ml spoonful, with 5% alcohol) STORAGE Store at room temperature in a tightly closed container. Freezing of the oral syrup should be avoided. This medication belongs to a group of drugs known as antihistamines (antihistamines block the action of histamine, a chemical that is released by the body during an allergic reaction). It is used to treat or prevent symptoms of allergy. TREATMENT To avoid stomach upset, you can take cyproheptadine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. If it is almost time for the next dose, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision; confusion; constipation; diarrhea; difficult or painful urination; dizziness; dry mouth, throat, or nose; headache; increased or decreased appetite; irritability; nausea; restlessness; ringing or buzzing in the ears; stomach upset; or unusual increase in sweating. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you not to do so). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about change in menstruation, clumsiness, feeling faint, flushing of the face, hallucinations, palpitations, rash, seizures, shortness of breath, sleeping disorders, sore throat or fever, tightness in the chest, unusual bleeding or bruising, unusual tiredness or weakness, or yellowing of the eyes or skin. INTERACTIONS This drug interacts with several other types of drugs: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (such as isocarboxazid, pargyline, phenelzine, and tranylcypromine) can increase the side effects of this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to cyproheptadine or to other antihistamines (such as azatadine, astemizole, brompheniramine, carbinoxamine, chlorpheniramine, clemastine, cyproheptadine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, phenidamine, promethazine, pyrilamine, terfenadine, trimeprazine, tripelennamine, and triprolidine). * Tell your doctor if you now have or if you have ever had asthma, blood vessel disease, glaucoma, high blood pressure, kidney disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * Cyproheptadine can cause drowsiness or dizziness. Your ability to perform tasks that require alertness, such as driving or operating potentially dangerous equipment, may be decreased. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of cyproheptadine pass into breast milk. The drug may also inhibit lactation. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cyproheptadine O{ pagetitle cyproheptadine 03116.TXT Copyright (C) 1993 Publications International, Ltd. dantrolene _________________________ BRAND NAME (Manufacturer) Dantrium (Norwich-Eaton) TYPE OF DRUG Muscle relaxant INGREDIENT dantrolene DOSAGE FORM Capsules (25 mg, 50 mg, and 100 mg) STORAGE Dantrolene should be stored at room temperature in a tightly closed container. This medication is used to relieve the spasticity caused by spinal cord injury, stroke, cerebral palsy, or multiple sclerosis. It works directly on muscles to prevent contraction. Dantrolene is also used prior to anesthesia to prevent malignant hyperthermia in patients known or suspected to be at risk for developing this complication. TREATMENT You can take dantrolene either on an empty stomach or with food or milk (as directed by your doctor). You can mix the contents of the capsule with fruit juice or another nonalcoholic beverage. Stir gently to mix the powder with the liquid and then take the dose immediately. Rinse the glass with a little more liquid and drink that as well. If you miss a dose and remember within an hour, take the missed dose immediately. If more than an hour has passed, do not take the missed dose; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abnormal hair growth, alteration of taste, constipation, diarrhea, dizziness, drowsiness, excessive tearing, fatigue, headache, insomnia, loss of appetite, or stomach upset. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about backaches; bloody or black, tarry stools; blurred vision; chills; confusion; convulsions; depression; difficult or painful urination; difficulty in breathing; difficulty in swallowing; feeling of suffocation; fever; increased urination; muscle pain; nervousness; palpitations; skin rash; speech disturbances; unusual weakness; or yellowing of the eyes or skin. INTERACTIONS Dantrolene interacts with several other types of drugs: 1. Concurrent use of dantrolene with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can lead to extreme drowsiness. 2. Concurrent use of dantrolene and estrogen by women over 35 years of age can increase their risk of liver damage. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to dantrolene. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had heart disease, liver disease, or lung disease. * Repeated laboratory tests are necessary while you are taking dantrolene to monitor changes that may indicate liver damage. * If this drug makes you dizzy or drowsy or blurs your vision, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Be sure to tell your doctor if you are pregnant. Although extensive studies in humans have not been conducted, animal studies involving large doses of dantrolene have demonstrated adverse effects on the fetus. Also, tell your doctor if you are breast-feeding an infant. This drug is not recommended for nursing women. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. dantrolenell a pagetitle dantrolene 03117.TXT Copyright (C) 1993 Publications International, Ltd. desipramine _________________________ BRAND NAMES (Manufacturers) desipramine (various manufacturers) Norpramin (Merrell Dow) Pertofrane (Rorer) TYPE OF DRUG Tricyclic antidepressant INGREDIENT desipramine DOSAGE FORMS Capsules (25 mg and 50 mg) Tablets (10 mg, 25 mg, 50 mg, 75 mg, 100 mg, and 150 mg) STORAGE Desipramine capsules and tablets should be stored at room temperature in tightly closed containers. Desipramine is used to relieve the symptoms of mental depression. This medication belongs to a group of drugs referred to as the tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals necessary for nerve transmission in the brain. TREATMENT This drug should be taken exactly as your doctor prescribes. You can take it with food to lessen stomach irritation, unless your doctor tells you otherwise. If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular dosing schedule. If, however, the dose you missed was a once-a-day bedtime dose, do not take that dose in the morning; check with your doctor instead. If the dose is taken in the morning, it may cause some unwanted side effects. Never double the dose. The effects of therapy with this medication may not become apparent for several weeks. SIDE EFFECTS Minor. Agitation, anxiety, blurred vision, confusion, constipation, cramps, diarrhea, dizziness, drowsiness, dry mouth, fatigue, heartburn, insomnia, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. As your body adjusts to the medication, these side effects should disappear. This medication may increase your sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, convulsions, difficulty in urinating, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, headaches, impotence, mood changes, mouth sores, nervousness, nightmares, nosebleeds, numbness in the fingers or toes, palpitations, ringing in the ears, seizures, skin rash, sleep disorders, sore throat, tremors, uncoordinated movements or balance problems, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Desipramine interacts with several other types of drugs: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with other antidepressants. 2. Desipramine may decrease the effectiveness of antiseizure medications. 3. It may block the blood-pressure-lowering effects of clonidine and guanethidine. 4. Cimetidine can decrease the elimination of desipramine from the body, increasing the possibility of side effects. 5. Birth control pills or estrogen-containing drugs can increase the side effects and reduce the effectiveness of the tricyclic antidepressants (including desipramine). 6. Tricyclic antidepressants may increase the side effects of thyroid medication and of over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, and diet drugs. 7. The concurrent use of tricyclic antidepressants and monoamine oxidase (MAO) inhibitors should be avoided, because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to medications, especially to desipramine or any of the other tricyclic antidepressants (such as amitriptyline, imipramine, doxepin, trimipramine, amoxapine, protriptyline, maprotiline, and nortriptyline). * Tell your doctor if you have a history of alcoholism or if you have had asthma, high blood pressure, liver disease, kidney disease, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, seizures, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or other medical or dental treatment, tell your doctor or dentist about this drug. * Do not stop taking this drug suddenly. Abruptly stopping it can cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The effects of this medication may last as long as seven days after you have stopped taking it, so continue to observe all precautions during that period. * The tablet form of this medication contains the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type symptoms (fainting, shortness of breath, rash) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Problems in humans have not been reported; however, studies in animals have shown that this medication can cause side effects in the fetus when given to the mother in large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug can pass into breast milk, which may cause unwanted effects, such as irritability or sleeping problems, in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. desipramine pagetitle desipramine 03118.TXT "Copyright (C) 1993 Publications International, Ltd. dexamethasone (systemic) _________________________ BRAND NAMES (Manufacturers) Decadron (Merck Sharp & Dohme) Dexameth (Major) dexamethasone (various manufacturers) Dexone (Reid-Rowell) Hexadrol (Organon) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT dexamethasone DOSAGE FORMS Tablets (0.25 mg, 0.5 mg, 0.75 mg, 1 mg, 1.5 mg, 2 mg, 4 mg, and 6 mg) Oral elixir (0.5 mg per 5-ml spoonful, with 5% alcohol) Oral solution (0.5 mg per 5-ml spoonful) Oral concentrate (0.5 mg per 0.5 ml, with 30% alcohol) STORAGE Dexamethasone should be stored at room temperature in a tightly closed container. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Dexamethasone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to treat a variety of disorders, including endocrine and rheumatic disorders; asthma; blood diseases; certain cancers; eye disorders; gastrointestinal disturbances, such as ulcerative colitis; respiratory diseases; and inflammations such as arthritis, dermatitis, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT In order to prevent stomach irritation, you can take dexamethasone with food or milk. If you are taking only one dose of this medication each day, try to take it before 9:00 a.m. This will mimic the body's normal production of this type of chemical. The oral elixir and solution forms of this medication should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The oral concentrate may be diluted in juice, other liquids, or semi-solid foods like applesauce. It is important to try not to miss any doses of dexamethasone. However, if you do miss a dose of this medication, follow these guidelines: 1. If you are taking this medication more than once a day, take the missed dose as soon as possible and return to your regular schedule. If it is already time for the next dose of medication, double the dose. 2. If you are taking this medication once a day, take the dose you missed as soon as possible, unless you don't remember until the next day. In that case, do not take the missed dose at all, just follow your regular dosing schedule. Do not double the next dose. 3. If you are taking this drug every other day, take it as soon as you remember. If you missed the scheduled time by a whole day, take it when you remember, then skip a day before you take the next dose. Do not double the next dose. If you miss more than one dose of dexamethasone, CONTACT YOUR DOCTOR. SIDE EFFECTS Minor. Dizziness, false sense of well-being, fatigue, increased appetite, increased sweating, indigestion, leg cramps, menstrual irregularities, muscle weakness, nausea, reddening of the skin on the face, restlessness, sleep disorders, thinning of the skin, or weight gain. These side effects should disappear as your body adjusts to the medication. To help avoid potassium loss while using this drug, you can take your dose with a glass of fresh or frozen orange juice, or eat a banana each day. The use of a salt substitute also helps to prevent potassium loss. Check with your doctor before changing your diet or using a salt substitute. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal enlargement or pain; acne or other skin problems; back or rib pain; bloody or black, tarry stools; blurred vision; convulsions; eye pain; fever and sore throat; growth impairment (in children); headaches; impaired healing of wounds; increased thirst and urination; mental depression; mood changes; muscle wasting; nightmares; peptic ulcers; rapid weight gain (three to five pounds within a week); rash; shortness of breath; unusual bleeding or bruising; or unusual weakness. INTERACTIONS This drug interacts with several other types of drugs: 1. Alcohol, aspirin, and anti-inflammatory medications (such as diclofenac, diflunisal, fenoprofen, flurbiprofen, ibuprofen, piroxicam, sulindac, and tolmetin) aggravate the stomach problems that may occur with use of this medication. 2. The dosage of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic drugs, or insulin may need to be altered when this medication is started or stopped. 3. The loss of potassium caused by this medication can lead to serious side effects in individuals taking digoxin. 4. Thiazide diuretics (water pills) can increase the potassium loss caused by dexamethasone. 5. Phenobarbital, phenytoin, rifampin, and ephedrine can increase the elimination of dexamethasone from the body, thereby decreasing its effectiveness. 6. Oral contraceptives (birth control pills) and estrogen-containing drugs may decrease the elimination of this drug from the body, which can lead to an increase in side effects. 7. Dexamethasone can increase the elimination of aspirin and isoniazid from the body, thereby decreasing the effectiveness of these two medications. 8. Cholestyramine and colestipol can chemically bind this medication in the stomach and gastrointestinal tract, preventing its absorption. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to dexamethasone or other adrenocorticosteroids (such as alcometasone, amcinonide, betamethasone, clobetasol, clocortolone, cortisone, desonide, desoximetasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, flurandrenolide, halcinonide, hydrocortisone, methylprednisolone, paramethasone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had bone disease, diabetes mellitus, emotional instability, glaucoma, fungal infections, heart disease, high blood pressure, high cholesterol levels, myasthenia gravis, peptic ulcers, osteoporosis, thyroid disease, tuberculosis, ulcerative colitis, kidney disease, or liver disease. * If you are using this medication for longer than a week, you may need to receive higher doses if you are subjected to stress, such as serious infections, injury, or surgery. Discuss this with your doctor. * If you have been taking this drug for more than one or two weeks, do not stop taking it suddenly. If it is stopped abruptly, you may experience abdominal or back pain, dizziness, extreme weakness, fainting, fever, muscle or joint pain, nausea, vomiting, or shortness of breath. Your doctor may, therefore, want to reduce the dosage gradually. Never increase the dosage or take the drug for longer than the prescribed time, unless you first consult your doctor. * While you are taking this drug, you should not be vaccinated or immunized. This medication decreases the effectiveness of vaccines and can lead to infection if a live-virus vaccine is administered. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Because this drug can cause glaucoma and cataracts with long-term use, your doctor may want to have your eyes examined by an ophthalmologist periodically during treatment. * If you are taking this medication for prolonged periods, you should wear or carry an identification card or notice stating that you are taking an adrenocorticosteroid. * This drug can raise blood sugar levels in diabetic patients. Blood sugar should, therefore, be monitored carefully with blood or urine tests when this drug is being taken. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta and may cause adverse effects in the fetus. Birth defects have been observed in the offspring of animals that were given large doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Decadron 0311801.scf dexamethasone (systemic) logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials 'pagetitle dexamethasone (systemic) 03088.TXT Copyright (C) 1993 Publications International, Ltd. cinoxacin _________________________ BRAND NAME (Manufacturer) Cinobac (Dista) TYPE OF DRUG Antibiotic INGREDIENT cinoxacin DOSAGE FORM Capsules (250 mg and 500 mg) STORAGE Cinoxacin capsules should be stored at room temperature in a tightly closed container. Cinoxacin is an antibiotic that is used to treat bacterial urinary tract infections. It chemically attaches to the bacteria, preventing their growth and multiplication. It kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT In order to prevent stomach irritation, you can take cinoxacin with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). Cinoxacin works best when the level of medicine in your urine is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. Try not to miss any doses of this medication. If you do miss a dose, take it as soon as you remember. However, if you do not remember to take the missed dose until it is almost time for your next dose, take the missed dose immediately; space the following dose about halfway through the regular interval between doses; then continue with your regular dosing schedule. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and your infection could recur. SIDE EFFECTS Minor. Abdominal cramps, diarrhea, dizziness, headache, increased sensitivity of the eyes to light, insomnia, loss of appetite, nausea, nervousness, or rectal itching. These side effects should disappear as your body adjusts to the medication. To relieve the increased sensitivity of your eyes to light, avoid prolonged exposure to sunlight and bright lights. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, itching, rapid weight gain (three to five pounds within a week), ringing in the ears, skin rash, tingling sensations, visual disturbances, or yellowing of the eyes or skin. Also, if the symptoms of your infection do not improve within several days, contact your doctor. INTERACTIONS Probenecid blocks the excretion of cinoxacin into the urinary tract, decreasing its effectiveness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially probenecid. WARNINGS Tell your doctor about unusual or allergic reactions you have had to any medications, especially to cinoxacin, ciprofloxin, enoxacin, nalidixic acid, norfloxacin, or ofloxacin. Tell your doctor if you now have or if you have ever had kidney disease or liver disease. If this drug makes you dizzy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Cinoxacin has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. Do not give your medicine to other people or use it for another infection unless your doctor specifically directs you to do so. Be sure to tell your doctor if you are pregnant. Although cinoxacin use appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether cinoxacin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cinoxacin pagetitle cinoxacin 03089.TXT Copyright (C) 1993 Publications International, Ltd. ciprofloxacin _________________________ BRAND NAME (Manufacturer) Cipro (Miles) TYPE OF DRUG Antibiotic INGREDIENT ciprofloxacin DOSAGE FORM Tablets (250 mg, 500 mg, and 750 mg) STORAGE Ciprofloxacin tablets should be stored at room temperature in tightly closed containers away from direct light. Ciprofloxacin is an antibiotic that is used to treat a wide variety of bacterial infections. It chemically attaches to the bacteria and prevents their growth and multiplication. It is not effective against viruses, parasites, or fungi. TREATMENT Ciprofloxacin is best taken two hours after a meal with a full glass (8 ounces) of water. You should drink several additional glasses of water every day, unless your doctor directs you to do otherwise. Drinking extra water will help to prevent unwanted effects of ciprofloxacin. Ciprofloxacin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. It is very important that you do not miss any doses of this medication. If you do miss a dose, take it as soon as you remember. However, if you do not remember to take the missed dose until it is almost time for your next dose, skip the missed dose and go back to your regular dosing schedule. Do not double the next dose. Ciprofloxacin therapy may be required for four to six weeks or longer. It is important to continue to take this drug for the entire time prescribed, even if the symptoms of infection disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and your infection could recur. SIDE EFFECTS Minor. Diarrhea, headache, light-headedness, nausea, stomach irritation, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blood in your urine, change in your vision, confusion, convulsions (seizures), agitation, dizziness, hallucinations, lower back pain, muscle or joint pain, pain or difficulty in urinating, restlessness, skin rash, tremor, unpleasant taste, unusual bleeding or bruising, or yellowing of the eyes or skin. Also, if the symptoms of your infection do not improve in several days, contact your doctor. INTERACTIONS Ciprofloxacin interacts with several other drugs: 1. Use of antacids with ciprofloxacin can decrease the absorption of this medicine. Do not take antacids within two hours of taking this medicine. 2. Use of sucralfate with ciprofloxacin can decrease the absorption of ciprofloxacin. Do not take a dose of sucralfate within two hours of a dose of ciprofloxacin unless directed to do so by your doctor. 3. Use of medicine containing theophylline along with ciprofloxacin can lead to increased bloodstream levels of theophylline and therefore to an increased chance of theophylline-related side effects. 4. Regular consumption of large quantities of caffeine-containing products (coffee, tea, or caffeine-containing soft drinks) with ciprofloxacin may lead to exaggerated or prolonged effects of caffeine. Your doctor may wish for you to restrict intake of caffeine during treatment. 5. Use of probenecid with ciprofloxacin can increase the bloodstream levels of ciprofloxacin and thus increase the risk of ciprofloxacin-related side effects. Before starting to take ciprofloxacin, BE SURE TO TELL YOUR DOCTOR about any other medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to ciprofloxacin, enoxacin, norfloxacin, cinoxacin, or nalidixic acid. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had brain or spinal cord disease, epilepsy, kidney disease, or liver disease. * To decrease the potential for harmful effects on your kidneys, you should increase your intake of fluids (nonalcoholic) unless your doctor directs you to do otherwise. * Ciprofloxacin can cause dizziness or light-headedness, so patients taking this medicine should know how they react to this medicine before they operate an automobile or machinery, or engage in activities requiring alertness or coordination. * This medicine can make your skin more sensitive to the sun. When you first begin taking this drug, avoid too much sun and do not use a sunlamp until you see how your skin responds to short periods of sun exposure. This is especially important if you tend to sunburn easily. * Ciprofloxacin has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. This drug is not recommended for use in pregnant women because it can result in serious adverse effects in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. It is not known whether ciprofloxacin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. ciprofloxacin pagetitle ciprofloxacin 03090.TXT Copyright (C) 1993 Publications International, Ltd. clarithromycin _________________________ BRAND NAME (manufacturer) Biaxin (Abbott) TYPE OF DRUG Antibiotic INGREDIENT clarithromycin DOSAGE FORM Tablets (250 mg and 500 mg) STORAGE Clarithromycin tablets should be stored at room temperature in a tightly closed, light resistant container. Clarithromycin is used to treat a wide variety of bacterial infections including infections of the upper and lower respiratory tracts and skin. It acts by preventing the bacteria from manufacturing protein, which prevents their growth. Clarithromycin kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Clarithromycin may be taken without regard to meals. If stomach upset should occur, clarithromycin may be taken with food or milk, unless your doctor tells you otherwise. The coated tablets should be swallowed whole; do not crush or chew these tablets. Clarithromycin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals, day and night. If you are to take two doses a day, the doses should be spaced 12 hours apart. It is very important that you do not miss any doses of this medication. If you do miss a dose, take it as soon as you remember. However, if you do not remember to take the missed dose until it is almost time for your next dose, skip the missed dose and go back to you regular dosing schedule. Do not double the dose. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing and the infection could recur. SIDE EFFECTS Minor. Abdominal pain/discomfort, abnormal taste, diarrhea, dyspepsia, headache, nausea. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fever, hearing loss, rash, rectal or vaginal itching, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Clarithromycin can decrease the elimination of carbamazepine, aminophylline, theophylline, and oxtriphylline from the body, which can lead to serious side effects. Blood levels of digoxin and oral anticoagulants (blood thinners, such as warfarin) may also be increased by clarithromycin. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to clarithromycin, erythromycin, or azithromycin. * Tell your doctor if you have now or have ever had kidney disease or liver disease. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medication. You should not give your medicine to other people or use it for another infection, unless your doctor specifically directs you to do so. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking clarithromycin. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. It is not known whether clarithromycin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. clarithromycinctor{ pagetitle clarithromycin 03091.TXT Copyright (C) 1993 Publications International, Ltd. clemastine _________________________ BRAND NAMES (Manufacturers) Tavist (Sandoz) Tavist-1 (Sandoz) TYPE OF DRUG Antihistamine INGREDIENT clemastine fumarate DOSAGE FORMS Tablets (1.34 mg and 2.68 mg) Oral syrup (0.67 mg per 5-ml spoonful, with 5.5% alcohol) STORAGE Clemastine tablets and oral syrup should be stored at room temperature in tightly closed containers. This medication belongs to a group of drugs known as antihistamines (antihistamines block the action of histamine, a chemical that is released by the body during an allergic reaction). It is, therefore, used to treat or prevent symptoms of allergy. TREATMENT To avoid stomach upset, you can take clemastine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). Each dose of the oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision; confusion; constipation; diarrhea; difficult or painful urination; dizziness; drowsiness; dry mouth, throat, or nose; headache; irritability; loss of appetite; nausea; restlessness; ringing or buzzing in the ears; stomach upset; or unusual increase in sweating. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about change in menstruation, clumsiness, feeling faint, flushing of the face, hallucinations, palpitations, rash, seizures, shortness of breath, sleeping disorders, sore throat or fever, tightness in the chest, unusual bleeding or bruising, or unusual tiredness or weakness. INTERACTIONS Clemastine interacts with other types of medications: 1. Concurrent use of it with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine and tranylcypromine) can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. Clemastine can also decrease the activity of oral anticoagulants (blood thinners, such as warfarin). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of the medications that are listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to clemastine or to other antihistamines (such as astemizole, azatadine, brompheniramine, carbinoxamine, chlorpheniramine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, phenidamine, promethazine, pyrilamine, terfenadine, trimeprazine, tripelennamine, and triprolidine). * Tell your doctor if you now have or if you have ever had asthma, blood vessel disease, glaucoma, high blood pressure, kidney disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * Clemastine can cause drowsiness or dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating dangerous equipment, may be decreased. Appropriate caution should, be taken. * Drinking alcoholic beverages can increase the sedative effects of clemastine. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of clemastine pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. clemastine mea pagetitle clemastine 03092.TXT Copyright (C) 1993 Publications International, Ltd. clindamycin (systemic) _________________________ BRAND NAMES (Manufacturers) Cleocin HCI (Upjohn) Cleocin Pediatric (Upjohn) clindamycin (various manufacturers) TYPE OF DRUG Antibiotic INGREDIENT clindamycin palmitate hydrochloride DOSAGE FORMS Capsules (75 mg, 150 mg, and 300 mg) Oral suspension (75 mg per 5-ml spoonful) STORAGE Clindamycin capsules and oral suspension should be stored at room temperature in tightly closed containers. The oral suspension should not be refrigerated or frozen; when chilled, it thickens and becomes difficult to pour. The suspension form of this medication should be discarded after 14 days because it loses potency. Clindamycin is an antibiotic that is used to treat a wide variety of bacterial infections. It chemically attaches to the bacteria and prevents their growth and multiplication. Clindamycin kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT In order to prevent irritation to your esophagus (swallowing tube) or stomach, you should take clindamycin with food or a full glass of water or milk (unless your doctor directs you to do otherwise). The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Clindamycin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. Try not to miss any doses of this medication. If you do miss a dose, take it as soon as you remember. However, if you do not remember to take the missed dose until it is almost time for your next dose, take the missed dose immediately; space the following dose about halfway through the regular interval between doses; then continue with your regular dosing schedule. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if your symptoms of infection disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and your infection could recur. SIDE EFFECTS Minor. Diarrhea, loss of appetite, nausea, stomach or throat irritation, or vomiting. These side effects should disappear as your body adjusts to the medication. If the diarrhea becomes prolonged, CONTACT YOUR DOCTOR. Do not take antidiarrheal medicine. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or pus-containing diarrhea, hives, itching, muscle or joint pain, skin rash, unusual bleeding or bruising, or yellowing of the eyes or skin. Also, if the symptoms of your infection do not improve in several days, contact your doctor. This medication may not be effective for your particular infection. INTERACTIONS Clindamycin should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to clindamycin or lincomycin. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had colitis, kidney disease, or liver disease. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking clindamycin. * The capsule form of this medication contains the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type symptoms (fainting, shortness of breath, rash) in certain susceptible individuals. * Clindamycin has been prescribed for your current infection only. Another infection later on, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. Although clindamycin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of clindamycin pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Cleocin HCI 0309201.scf clindamycin (systemic)c logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle clindamycin (systemic) 03093.TXT Copyright (C) 1993 Publications International, Ltd. clindamycin (topical) _________________________ BRAND NAME (Manufacturer) Cleocin T (Upjohn) TYPE OF DRUG Antibiotic INGREDIENT clindamycin phosphate DOSAGE FORMS Topical solution (10 mg per ml) Topical gel (1%) Topical lotion (10 mg per ml) STORAGE Clindamycin topical solution, gel, or lotion should be stored at room temperature in a tightly closed container. It should be kept away from flames and heat because the solution is flammable (it contains alcohol). Clindamycin topical solution is used to treat acne vulgaris. It is an antibiotic that is thought to act by suppressing the growth of the bacteria Propionibacterium acnes. These bacteria are probably responsible for the formation of the acne sores. TREATMENT Before applying topical clindamycin, wash the affected area thoroughly with a mild soap and warm water. Then rinse well and pat dry. To avoid skin irritation from the alcohol, wait at least 30 minutes after washing or shaving before applying this medication. The solution is packaged in a bottle with an applicator tip that can be used to apply the solution directly to the skin. Press the applicator tip firmly against your skin. The pressure applied determines the amount of medicine released. Use the applicator with a dabbing motion rather than a rolling motion. A thin film of medication should be applied to the entire area of skin affected by acne. If you miss a dose of this medication, apply it as soon as possible, unless it is almost time for the next dose. In that case, do not apply the missed dose at all; just return to your regular dosing schedule. Topical clindamycin does not cure acne, but it helps to control it as long as you continue to use the drug. It is important to continue to apply this medication for the entire time prescribed by your doctor (which may be several months), even if your symptoms disappear in several days. If you stop applying the medication too soon, the bacteria are given a chance to continue growing, and your infection could recur. If there is no improvement in your condition after six weeks of using this medication, check with your doctor. However, it may take up to 12 weeks before improvement in your acne is readily apparent. SIDE EFFECTS Minor. Diarrhea, dry skin, fatigue, headache, nausea, oily skin, or stomach irritation. These side effects should disappear as your body adjusts to the medication. If diarrhea becomes severe or prolonged, CONTACT YOUR DOCTOR. Do not take any antidiarrheal medicine. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or pus-containing diarrhea, increased urination, itching, sore throat, or swelling of the face. INTERACTIONS If you are using another topical medication as well as clindamycin, it is best to apply them at different times to increase effectiveness and reduce the chance of skin irritation. Use of abrasive or medicated cleansers, medicated cosmetics, or any topical, alcohol-containing preparations (such as after-shave lotions or perfume) in conjunction with topical clindamycin can result in excessive skin dryness and irritation. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs, especially to clindamycin or lincomycin. * Tell your doctor if you have ever had colitis. * Because this medication contains alcohol, it can cause skin irritation in sensitive areas. In addition, it has an unpleasant taste if it gets on the mouth or lips. You should avoid getting this medication in your eyes, nose, or mouth, or in the areas surrounding scratches or burns. * You may continue to use cosmetics while applying this medication (unless otherwise directed by your doctor), but it is best to use only "water-based" cosmetics rather than ones with an oil base. * Be sure to tell your doctor if you are pregnant. Although topical clindamycin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether topical clindamycin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. clindamycin (topical) pagetitle clindamycin (topical) 03094.TXT Copyright (C) 1993 Publications International, Ltd. clofibrate _________________________ BRAND NAMES (Manufacturers) Atromid-S (Ayerst) clofibrate (various manufacturers) TYPE OF DRUG Antihyperlipidemic (lipid-lowering drug) INGREDIENT clofibrate DOSAGE FORM Capsules (500 mg) STORAGE Clofibrate should be stored at room temperature in a tightly closed, light-resistant container. Clofibrate is used to reduce fat (lipid) or cholesterol in the blood in patients with atherosclerosis (hardening of the arteries) and in patients having certain kinds of skin lesions caused by excessive fat levels in the blood. It is not clearly understood how clofibrate works, but it appears to decrease the body's production of cholesterol and fats. Attempts are usually made to control serum fat levels with diet, exercise, weight loss, or control of diabetes before therapy with this drug is initiated. TREATMENT Clofibrate should be taken with food or immediately after a meal (unless your doctor directs you to do otherwise). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal cramps, bloating, blurred vision, decreased sexual desire, diarrhea, dizziness, drowsiness, dry and brittle hair, dry skin, fatigue, gas, headache, increased sweating, itching, muscle cramps, nausea, sore mouth, vomiting, weakness, or weight gain. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; chest pain; difficult or painful urination; impotence; loss of hair; rash; palpitations; sore joints; tremors; or unusual bleeding or bruising. INTERACTIONS Clofibrate interacts with several other types of medications: 1. It can increase the side effects of oral anticoagulants (blood thinners, such as warfarin) and oral antidiabetic agents. 2. Rifampin can decrease the effectiveness of clofibrate. 3. Probenecid and furosemide can increase the side effects of clofibrate. Before starting to take clofibrate, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to clofibrate. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had diabetes mellitus, gallstones, heart disease, kidney disease, liver disease, stomach ulcers, or thyroid disease. * Do not stop taking this medication without first checking with your doctor. Stopping this medication abruptly may lead to an increase in your blood fat levels. Your doctor may want you to follow a special diet to prevent this. * Be sure to tell your doctor if you are pregnant. Clofibrate crosses the placenta and can build up in the body of the developing fetus. Because clofibrate has long-term effects on the body, you should not become pregnant for at least two months after you stop taking this drug. Also, tell your doctor if you are breast-feeding an infant. It is not known whether clofibrate passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Atromid-S 0309401.scf clofibrate5 logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle clofibrate 03095.TXT Copyright (C) 1993 Publications International, Ltd. clomiphene _________________________ BRAND NAMES (Manufacturers) Clomid (Merrell Dow) Milophene (Milex) Serophene (Serono) TYPE OF DRUG Fertility drug INGREDIENT clomiphene DOSAGE FORM Tablets (50 mg) STORAGE Clomiphene should be stored at room temperature in a tightly closed, light-resistant container. Clomiphene is used to treat infertility in women. This drug reverses some types of infertility in women by stimulating ovulation. TREATMENT Clomiphene can be taken either on an empty stomach or with food or milk, as directed by your doctor. It is very important to follow your dosing schedule carefully. If you have any questions about how to take this medication, BE SURE TO CHECK WITH YOUR DOCTOR. If you miss a dose of this medication, take the missed dose as soon as possible. If you do not remember until it is time for the next dose, double the dose, then return to your regular dosing schedule. If you miss more than one dose, CHECK WITH YOUR DOCTOR. SIDE EFFECTS Minor. Abdominal discomfort, bloating, dizziness, headache, insomnia, nausea, nervousness, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast tenderness, depression, fatigue, hair loss, hot flashes, pelvic pain, skin rash, or visual disturbances. INTERACTIONS Clomiphene should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to clomiphene. * Before beginning to take clomiphene, tell your doctor if you now have or if you have ever had any of the following symptoms: abnormal vaginal bleeding, clotting problems, tumors or cysts of the uterus or ovaries, liver disease, or mental depression. * If clomiphene makes you dizzy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment, and take care going up and down stairs. * While taking this medication, it is important to carefully follow your doctor's directions for recording your body temperature and for the timing of sexual intercourse. * The risk of a multiple pregnancy is increased when clomiphene is used. This medication should not be taken if you are already pregnant. If you should become pregnant during treatment with clomiphene, tell your doctor immediately and, unless directed to do otherwise, discontinue the medication at once. It has been reported to cause birth defects in the offspring of animals that received large doses of clomiphene during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether clomiphene passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. clomiphenehici pagetitle clomiphene 03096.TXT Copyright (C) 1993 Publications International, Ltd. clonazepam _________________________ BRAND NAME (Manufacturer) Klonopin (Roche) TYPE OF DRUG Benzodiazepine anticonvulsant INGREDIENT clonazepam DOSAGE FORM Tablets (0.5 mg, 1 mg, and 2 mg) STORAGE Clonazepam should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat certain seizure disorders. It is unclear exactly how clonazepam works to treat convulsions, but it appears to prevent the spread of seizures to all parts of the brain. TREATMENT This medication can be ingested either on an empty stomach or with food or milk. However, take it only as directed by your doctor. Clonazepam works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take three doses a day, the doses should be spaced eight hours apart. Try not to miss any doses of this medication. If you do miss a dose and remember within an hour, take the dose immediately. If more than an hour has passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss two or more doses, CONTACT YOUR DOCTOR. SIDE EFFECTS Minor. Constipation, diarrhea, drowsiness, dry mouth, headache, increased appetite, insomnia, loss of appetite, nausea, runny nose, or weight loss or gain. These side effects should disappear as your body adjusts to the medication. In order to relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about behavioral problems, confusion, depression, fever, fluid retention, hair loss, hallucinations, hysteria, increased or decreased urination, muscle weakness, palpitations, skin rash, slurred speech, sore gums, tremors, unusual bleeding or bruising, unusual body movements, or yellowing of the eyes or skin. Clonazepam can also produce an increase in salivation, so it should be used cautiously by people who have swallowing difficulties. Contact your doctor if salivation becomes a problem. INTERACTIONS Clonazepam interacts with several other types of drugs: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. Phenobarbital and phenytoin can decrease the blood levels and effectiveness of clonazepam. 3. Concurrent use of clonazepam and valproic acid can lead to increased seizure activity. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to clonazepam or to other benzodiazepine tranquilizers (such as alprazolam, chlordiazepoxide, clorazepate, diazepam, flurazepam, halazepam, lorazepam, oxazepam, prazepam, temazepam, and triazolam). * Tell your doctor if you now have or if you have ever had glaucoma, kidney disease, liver disease, or lung disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Children should be careful while playing. * Do not stop taking this medication unless you first check with your doctor. If you have been taking this medication for several months or longer, stopping the drug abruptly could lead to a withdrawal reaction and a worsening of your condition. Your doctor may, therefore, want to reduce your dosage of this medication gradually. * Be sure to tell your doctor if you are pregnant. Although no harmful effects have been reported during pregnancy, extensive studies have not been conducted. The risks and benefits of clonazepam therapy during pregnancy should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. Small amounts of clonazepam pass into breast milk and may cause excessive drowsiness in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. clonazepamFECT pagetitle clonazepam 03097.TXT Copyright (C) 1993 Publications International, Ltd. clonidine _________________________ BRAND NAMES (Manufacturers) Catapres (Boehringer Ingelheim) Catapres-TTS (Boehringer Ingelheim) clonidine hydrochloride (various manufacturers) TYPE OF DRUG Antihypertensive INGREDIENT clonidine hydrochloride DOSAGE FORMS Tablets (0.1 mg, 0.2 mg, and 0.3 mg) Transdermal patch (2.5 mg, 5 mg, and 7.5 mg per patch; release rate of clonidine is 0.1 mg, 0.2 mg, and 0.3 mg per 24 hours) STORAGE Clonidine tablets should be stored at room temperature in a tightly closed container. Do not remove a patch from its packaging until just before you apply it. This medication works on the central nervous system (brain and spinal cord) to prevent the release of chemicals responsible for maintaining high blood pressure. TREATMENT To avoid stomach irritation, you can take clonidine tablets with food or with a full glass of milk or water. In order to become accustomed to taking this medication, try to take it at the same time(s) every day. Clonidine transdermal patches come with detailed patient instructions that should be carefully followed. Apply the patch to a hairless area of unbroken skin on the upper arm or chest. If the patch becomes loose before it is time to remove it (after seven days), apply adhesive tape over the patch to ensure good adhesion. To avoid skin irritation, apply each new patch to a different site. If you miss a dose of clonidine tablets, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss more than two doses of this medication, contact your doctor. If you forget to remove the clonidine transdermal patch after seven days, remove the old patch as soon as you remember. Apply a new patch immediately to a different site. Clonidine does not cure high blood pressure, but it will help control the condition as long as it is taken. SIDE EFFECTS Minor. Anxiety, constipation, decreased sexual desire, dizziness, drowsiness, dry eyes, dry mouth, fatigue, headache, insomnia, jaw pain, loss of appetite, nasal congestion, nausea, nervousness, or vomiting. These side effects should disappear as your body adjusts to the medication. The patches can also cause burning, inflammation, itching, rash, or increased or decreased pigmentation of the skin at the site of application. TELL YOUR DOCTOR if the skin reactions persist or become bothersome. To prevent constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), unless your doctor tells you not to. To relieve mouth dryness, suck on ice chips or a piece of hard candy or chew sugarless gum. "Artificial tears" eye drops may help relieve eye dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain; cold fingertips or toes; depression; difficulty in breathing; difficulty in urinating; enlarged, painful breasts (in both sexes); hair loss; hives; impotence; itching; nightmares; rash; swelling of the hands or feet; weight gain; or yellowing of the eyes or skin. INTERACTIONS Clonidine interacts with several other types of medications: 1. Concurrent use of clonidine with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can cause extreme drowsiness. 2. Tricyclic antidepressants and anti-inflammatory agents (such as indomethacin) may block the blood-pressure-lowering effects of clonidine. Before you start to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to medications, especially to clonidine. * Tell your doctor if you have ever had heart disease, kidney disease, depression, Raynaud's disease, or a heart attack or stroke. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, sinus, cough, or cold problems unless you first check with your doctor. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Tolerance to this medication develops occasionally; consult your doctor if you feel that the drug is becoming less effective. * Do not stop taking this medication without first consulting your doctor. If therapy with this drug is stopped abruptly, you may experience nervousness, agitation, headache, and a rise in blood pressure. Your doctor may, therefore, want to reduce your dosage of the drug gradually or start you on another medication. * Make sure you have enough medication on hand to last through weekends, vacations, and holidays. * Drinking alcoholic beverages, standing for prolonged periods, exercising, and hot weather can each increase the blood-pressure-lowering effects of clonidine and can cause fainting or dizziness. * Be sure to tell your doctor if you are pregnant. Although clonidine appears to be safe in animals, extensive studies in humans during pregnancy have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of clonidine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Catapres 0.1 mg,Catapres 0.2 mg,Catapres 0.3 mg 0309701.scf,0309702.scf,0309703.scf+ clonidine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle clonidine 03098.TXT Copyright (C) 1993 Publications International, Ltd. clorazepate _________________________ BRAND NAMES (Manufacturers) clorazepate (various manufacturers) Tranxene-SD (Abbott) Tranxene T-Tabs (Abbott) TYPE OF DRUG Benzodiazepine sedative/hypnotic INGREDIENT clorazepate DOSAGE FORMS Capsules (3.75 mg, 7.5 mg, and 15 mg) Tablets (3.75 mg, 7.5 mg, 11.25 mg, 15 mg, and 22.5 mg) STORAGE This medication should be stored at room temperature in tightly closed, light-resistant containers. Clorazepate is prescribed to treat the symptoms of anxiety and sometimes to treat seizures and alcohol withdrawal symptoms. It is not clear exactly how this medicine works, but it may relieve anxiety by acting as a depressant of the central nervous system. Clorazepate is used to relieve nervousness. It is effective for this purpose, but it is important to remove the cause of the anxiety as well. TREATMENT This medication should be taken exactly as directed by your doctor. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this medication with a dose of antacids, since they may retard its absorption. If you are taking this medication regularly and you miss a dose, take the missed dose immediately if you remember within an hour. If more than an hour has passed, skip the dose you missed and wait for the next scheduled dose. Do not double the next dose. SIDE EFFECTS Minor. Bitter taste in the mouth, constipation, depression, diarrhea, dizziness, drowsiness (after a night's sleep), dry mouth, excessive salivation, fatigue, flushing, headache, heartburn, loss of appetite, nausea, nervousness, sweating, or vomiting. As your body adjusts to the medicine, these side effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, difficulty in urinating, fainting, falling, fever, joint pain, hallucinations, mouth sores, nightmares, palpitations, rash, severe depression, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS Clorazepate interacts with several other types of drugs: 1. To prevent oversedation, this drug should not be taken with alcohol or other sedative drugs, central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, medicines for seizures, and phenothiazine tranquilizers), or with antidepressants. 2. This medication may decrease the effectiveness of carbamazepine, levodopa, and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 3. Disulfiram, oral contraceptives (birth control pills), isoniazid, and cimetidine can increase the blood levels of clorazepate, which can lead to increased sedation. 4. Concurrent use of rifampin may decrease the effectiveness of clorazepate. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to clorazepate or other benzodiazepine tranquilizers (such as alprazolam, chlordiazepoxide, diazepam, flurazepam, halazepam, lorazepam, oxazepam, prazepam, temazepam, and triazolam). * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, epilepsy, lung disease, myasthenia gravis, porphyria, depression, or mental illness. * This medicine can cause drowsiness. Avoid tasks that require alertness, such as driving a car or using potentially dangerous equipment. * This medication has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage without first consulting your doctor. It is also important not to stop taking this drug suddenly if you have been taking it in large amounts or if you have used it for several weeks. Your doctor may want to reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects may develop. * Be sure to tell your doctor if you are pregnant. This medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may cause the baby to become dependent on it. This may result in withdrawal side effects in the newborn. Also, use of this medicine during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the newborn. Tell your doctor if you are breast-feeding an infant. This medicine can pass into the breast milk and cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem. Tranxene-SD 11.25 mg,Tranxene-SD 22.5 mg,Tranxene T-Tabs 3.75 mg,Tranxene T-Tabs 7.5 mg,Tranxene T-Tabs 15 mg 0309801.scf,0309802.scf,0309803.scf,0309804.scf,0309805.scf clorazepate logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle clorazepate 03099.TXT Copyright (C) 1993 Publications International, Ltd. clotrimazole (topical) _________________________ BRAND NAMES (Manufacturers) Lotrimin (Schering) Lotrimin AF [*] (Schering-Plough) Mycelex (Miles) Mycelex OTC [*] (Miles) * Available without a prescription in 1% cream and 1% solution. TYPE OF DRUG Antifungal INGREDIENT clotrimazole DOSAGE FORMS Topical cream (1%) Topical solution (1%) Topical lotion (1%) STORAGE Store at room temperature in tightly closed containers. This medication should never be frozen. This medication is used to treat superficial fungal infections of the skin. Clotrimazole is an antifungal agent that is active against a broad range of fungi and yeasts. It acts by preventing the growth and multiplication of these organisms. TREATMENT Apply this medication in the morning and evening, unless your doctor directs you to do otherwise. Before applying clotrimazole, you should wash your hands. Then (unless otherwise directed) cleanse the affected area with soap and water. Pat the skin with a clean towel until it is almost dry. Gently massage a small amount of the cream, solution, or lotion over the entire area that is affected and the skin immediately surrounding this area. Do not bandage or cover the infection after applying the medication unless your doctor instructs you to do so. Wash your hands again after use. Improvement in your condition may not become apparent for as much as a week after you begin treatment with this drug. However, you should be sure to complete the full course of therapy. If you stop using this drug too soon, resistant fungi are given a chance to continue growing, and the infection could recur. If your condition has not improved after four weeks of treatment with this medication, however, CONTACT YOUR DOCTOR. Clotrimazole may not be effective against the organism that is causing your infection. If you miss a dose of this medication, apply the missed dose as soon as possible. If you do not remember until it is almost time for the next dose, however, do not apply the missed dose at all; just return to your regular dosing schedule. Do not use a double dose of the medication at the next application. SIDE EFFECTS Minor. You may experience some burning, itching, stinging, or redness when this drug is applied to the skin. These side effects should disappear as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, irritation, peeling of the skin, or swelling. INTERACTIONS Clotrimazole should not interact with other medications as long as it is used according to directions. WARNINGS * Tell your doctor about any unusual reactions you have had to medications, especially to clotrimazole. * This medication has been prescribed for your current infection only. Another infection may require a different medication. Therefore, you should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Clotrimazole should not be used in or around the eyes. * In order to avoid reinfection, keep the affected area clean and dry, wear freshly laundered clothing, and try to avoid wearing tight-fitting clothing. * Be sure to tell your doctor if you are pregnant. Small amounts of clotrimazole may be absorbed through the skin. It should, therefore, be used cautiously, especially during the first three months of pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether clotrimazole passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. clotrimazole (topical)then# pagetitle clotrimazole (topical) 03100.TXT Copyright (C) 1993 Publications International, Ltd. clotrimazole (vaginal) _________________________ BRAND NAMES (Manufacturers) Gyne-Lotrimin (Schering) [*] Mycelex-G (Miles) * Available without a prescription in 1% cream or 100 mg tablet. TYPE OF DRUG Antifungal INGREDIENT clotrimazole DOSAGE FORMS Vaginal cream (1%) Vaginal tablets (100 mg and 500 mg) STORAGE Store at room temperature in a tightly closed container. This medication should never be frozen. This medication is used to treat fungal infections of the vagina. Clotrimazole is an antifungal agent that prevents the growth and multiplication of a wide range of fungi and yeast, including Candida. TREATMENT Clotrimazole vaginal cream and tablets are packaged with detailed directions for use. Follow these instructions carefully. An applicator will probably be provided for inserting the cream into the vagina. Use this medication at bedtime, unless otherwise directed by your doctor. You should wash the area carefully prior to inserting the cream or tablet into the vagina. If you begin to menstruate while being treated with clotrimazole, continue your regular dosing schedule. If you miss a dose of this medication, insert the missed dose as soon as possible. However, if you do not remember until the following day, do not insert the missed dose at all; just return to your regular dosing schedule. Do not use a double dose of the medication at the next application. It is important to continue to insert this medication for the entire time prescribed by your doctor--even if the symptoms disappear before the end of that period. If you stop using the drug too soon, resistant fungus could be given a chance to continue growing, and it is possible that your infection could recur. SIDE EFFECTS Minor. You may experience vaginal burning, itching, or irritation when this drug is inserted. This sensation should disappear as your body adjusts to the medication. Your sexual partner may also experience some burning or irritation. Do not treat any side effects that occur in the area of the infection unless you first consult your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal cramps, blistering, bloating, excessive irritation, painful urination, or peeling of the skin. INTERACTIONS Clotrimazole should not interact with other medications if it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to clotrimazole. * Tell your doctor if you have had other vaginal infections, especially if they have been resistant to treatment. * To prevent reinfection, avoid sexual intercourse or ask your partner to use a condom until treatment is completed. * There may be some vaginal drainage while using this medication; therefore, you may want to use a sanitary napkin or panty liner to prevent the staining of clothing. However, the use of tampons is not recommended since they may soak up too much of the medicine. * Whenever possible, wear cotton panties rather than those made of nylon or other nonporous materials while being treated for a vaginal fungus infection. Also, in order to better prevent reinfection, always wear freshly laundered underclothes. * If there is no improvement in your condition, or if irritation in the area continues after several days of treatment, CONTACT YOUR DOCTOR. This medication may be causing an allergic reaction, or it may not be effective against the organism causing your infection. * This medication has been prescribed for your current infection only. Another infection that develops later on, or one that someone else has, may require a different medication. Therefore, you should not give your medication to other women or use it for other infections unless your doctor specifically directs you to do so. * Tell your doctor if you are pregnant. Clotrimazole appears to be safe during pregnancy. However, extensive studies have not been conducted. In addition, your doctor may want to change the instructions on how you are to use this drug if you are pregnant. Also, tell your doctor if you are breast-feeding. It is not known whether this drug passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. clotrimazole (vaginal)s su pagetitle clotrimazole (vaginal) 03101.TXT Copyright (C) 1993 Publications International, Ltd. cloxacillin _________________________ BRAND NAMES (Manufacturers) cloxacillin sodium (various manufacturers) Cloxapen (Beecham) Tegopen (Bristol) TYPE OF DRUG Penicillin antibiotic INGREDIENT cloxacillin DOSAGE FORMS Capsules (250 mg and 500 mg) Oral solution (125 mg per 5-ml spoonful) STORAGE Cloxacillin capsules should be stored at room temperature in a tightly closed container. The oral solution should be stored in the refrigerator in a tightly closed container. Any unused portion of the solution should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. Cloxacillin is used to treat a wide variety of bacterial infections, especially those caused by Staphylococcus bacteria. It acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Cloxacillin kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Cloxacillin should be taken on an empty stomach or with a glass of water one hour before or two hours after a meal. This medication should never be taken with fruit juices or carbonated beverages because the acidity of these drinks destroys the drug in the stomach. The oral solution should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Cloxacillin works best when the level of medicine in your bloodstream is kept constant. Therefore, take the doses at evenly spaced intervals day and night. For example, if you are taking four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; then return to your regular schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms of the infection disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given the chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, heartburn, nausea, or vomiting. These side effects should stop as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloating, chills, cough, darkened tongue, difficulty in breathing, fever, irritation of the mouth, muscle aches, rash, rectal or vaginal itching, severe diarrhea, or sore throat. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your physician. INTERACTIONS Cloxacillin interacts with several other types of medications: 1. Probenecid can increase the blood concentrations and side effects of this medication. 2. Cloxacillin may decrease the effectiveness of birth control pills, and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking this drug. Discuss this with your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to cloxacillin or penicillins, cephalosporin antibiotics, penicillamine, or griseofulvin. * Tell your doctor if you now have or if you have ever had kidney disease, asthma, or allergies. * This medication has been prescribed for your current infection only. Another infection that develops later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people to use or use your medication for other infections, unless your doctor specifically directs you to do so. * Diabetics taking cloxacillin should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem, switch to Clinistix or Tes-Tape in order to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although cloxacillin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Tegopen 0310101.scf cloxacillin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials useY pagetitle cloxacillin 03102.TXT Copyright (C) 1993 Publications International, Ltd. clozapine _________________________ BRAND NAME (Manufacturer) Clozaril (Sandoz) TYPE OF DRUG Antipsychotic INGREDIENT clozapine DOSAGE FORM Tablets (25 mg and 100 mg) STORAGE Clozapine tablets should be stored at room temperature in the unit-dose packages provided by the manufacturer. Clozapine is prescribed for the treatment of schizophrenia in patients who have not been helped by or could not tolerate other medications. It is available only through pharmacies that agree to participate with your doctor in a program to monitor your blood. The program, which your doctor will arrange, provides a week's supply of the drug at the time that blood is drawn for testing. TREATMENT To avoid stomach irritation, you can take this medication with a meal or a glass of water or milk (unless your doctor directs you to do otherwise). If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular dosing schedule. If it is almost time for the next dose, however, skip the one you missed and return to your regular schedule. Do not double the next dose (unless your doctor directs you to do otherwise). The full effects of this medication for the control of emotional or mental symptoms may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Abdominal discomfort, constipation, dizziness, drowsiness, dry mouth, headache, heartburn, increased saliva production, light-headedness, nausea, vomiting, or weight gain. As your body adjusts to the medication, these side effects should disappear. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, blurred vision, chest pain, chills, confusion, convulsions, difficulty in urinating, fainting, fever, increased sweating, loss of bladder control, mouth sores, muscle stiffness, nightmares, rapid heart rate, rash, restlessness, severe headache, sore throat, tremor, trouble sleeping, or unusual bleeding or bruising. INTERACTIONS Clozapine antipsychotic medication interacts with several other types of medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system (brain and spinal cord) depressants, such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, phenothiazine tranquilizers, narcotics, and pain medications, or with tricyclic antidepressants. 2. Lithium may increase the side effects of this drug. 3. The effect of clozapine on blood cells may be increased by other drugs, such as antineoplastics (cancer medicine), antithyroid drugs, azathioprine, chloramphenicol, colchicine, flucytosine, interferon, and zidovudine. 4. The side effects of digoxin, phenytoin, and warfarin may be increased by this medication. Before starting to take clozapine, BE SURE TO TELL YOUR DOCTOR about any other medications you are currently taking, especially if they are any of those listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to clozapine. * Tell your doctor if you have a history of alcoholism or if you now have or have ever had blood disease, depression, enlarged prostate, gastrointestinal problems, glaucoma, heart or circulatory disease, liver disease, or seizures. * To avoid oversedation, avoid drinking alcoholic beverages while taking this medication. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Do not stop taking this medication suddenly. Your doctor may want to gradually reduce the amount you are taking before stopping the drug. Be sure to consult your doctor before stopping this medication. * It is very important that you have your blood tested weekly and that you have your doctor check your progress regularly. You can only receive the drug after your blood is drawn and a test is conducted. The results of your blood tests will assist your doctor in making safe dosage adjustments for you. * Be sure to tell your doctor if you are pregnant. Although clozapine appears to be safe in animals, extensive studies in humans have not been conducted. Also, it is very important that you tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. clozapine pagetitle clozapine 03072.TXT Copyright (C) 1993 Publications International, Ltd. cephradine _________________________ BRAND NAMES (Manufacturers) Anspor (Smith Kline & French) cephradine (various manufacturers) Velosef (Apothecon) TYPE OF DRUG Cephalosporin antibiotic INGREDIENT cephradine DOSAGE FORMS Capsules (250 mg and 500 mg) Oral suspension (125 mg and 250 mg per 5-ml spoonful) STORAGE Cephradine capsules should be stored at room temperature in tightly closed containers. The oral suspension form of this drug should be stored in the refrigerator in a tightly closed container. Any unused portion of the oral suspension should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. This medication is used to treat a wide variety of bacterial infections, including those of the middle ear, prostate, skin, upper and lower respiratory tract, and urinary tract. This drug acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Cephradine kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT You can take cephradine either on an empty stomach or, in order to avoid an upset stomach, with food or milk. The contents of the suspension form of cephradine tend to settle on the bottom of the bottle; it is important to shake the container well to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon or with the dropper provided. An ordinary kitchen teaspoon is not accurate enough, and often kitchen teaspoons vary in size. Cephalosporin antibiotics work best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it and space the following dose halfway through the regular interval between doses; then return to your regular dosing schedule. It is important that you try not to skip any doses of this medication. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking this drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, fatigue, headache, heartburn, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, fever, itching, joint pain, rash, rectal or vaginal itching, severe diarrhea (which can be watery, or contain pus or blood), sore mouth, stomach cramps, tingling in the hands or feet, or unusual bleeding or bruising. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor immediately. INTERACTIONS Cephradine interacts with several other types of medications: 1. Probenecid can increase the blood concentrations and side effects of this medication. 2. The side effects, especially effects on the kidneys, of furosemide, bumetanide, ethacrynic acid, colistin, vancomycin, polymyxin B, and aminoglycoside antibiotics can be increased by cephradine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of the medications that are listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medication, especially to cephradine or other cephalosporin antibiotics (such as cefamandole, cephalexin, cefaclor, cefadroxil, cefazolin, cefoperazone, cefotaxime, ceftizoxime, cephalothin, cephapirin, cefoxitin, cefuroxime, and moxalactam) or to penicillin antibiotics. * Tell your doctor if you now have or if you have ever had kidney disease. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medication to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking cephradine should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking cephradine, you should switch to Clinistix or Tes-Tape. * Be sure to tell your doctor if you are pregnant. Although the cephalosporin antibiotics appear to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding. Small amounts of this medication pass into breast milk and may alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Velosef 250 mg,Velosef 500 mg 0307201.scf,0307202.scfM cephradine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle cephradine 03073.TXT Copyright (C) 1993 Publications International, Ltd. chenodiol _________________________ BRAND NAME (Manufacturer) Chenix (Reid-Rowell) TYPE OF DRUG Gallstone dissolver INGREDIENT chenodiol DOSAGE FORM Tablets (250 mg) STORAGE Chenodiol tablets should be stored at room temperature in a tightly closed container. This medication is used to dissolve gallstones in individuals who cannot tolerate surgery. Chenodiol is a naturally occurring bile acid that blocks the body's production of cholesterol. This action leads to gradual dissolution of cholesterol gallstones. TREATMENT In order to obtain the maximum benefit from this medication, you should take it with food or milk. It is important to continue taking this medication for the entire time prescribed by your doctor (usually six months to two years), even if your symptoms disappear. If you stop using this drug too soon, your symptoms could recur (the gallstones may not have completely dissolved). If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, diarrhea, gas, heartburn, loss of appetite, nausea, stomach cramps, or vomiting. These side effects should disappear as your body adjusts to the medication. If diarrhea continues to be a problem, contact your doctor. Antidiarrheal medications may be effective for short periods, or your doctor may want to decrease your dose of chenodiol. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about yellowing of the eyes or skin. INTERACTIONS Chenodiol may interact with several other types of medications: 1. Cholestyramine, colestipol, and aluminum-containing antacids can decrease the absorption of chenodiol from the gastrointestinal tract. 2. Estrogen-containing drugs, oral contraceptives (birth control pills), probucol, and clofibrate can counteract the effectiveness of chenodiol. Before you start to take this medication, BE SURE TO TELL YOUR DOCTOR about any other medications you are currently taking, especially if you are taking any of those listed above. WARNINGS * Be sure to tell your doctor about any unusual or allergic reactions you have had to any medications, especially to chenodiol. * Tell your doctor if you now have or if you have ever had biliary tract disease, blood vessel disease, colon cancer, inflammatory bowel disease, liver disease, or pancreatitis. * Body weight and diet influence the formation and dissolution of gallstones. A high-fiber, low-fat diet and weight reduction are recommended to increase the effectiveness of chenodiol. * Be sure to tell your doctor if you are pregnant. Although extensive studies in humans have not been conducted, this medication has caused birth defects in the offspring of animals that received large doses of it during pregnancy. Also, tell your doctor if you are breast-feeding. It is not known whether chenodiol passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chenodiol pagetitle chenodiol 03074.TXT Copyright (C) 1993 Publications International, Ltd. chloral hydrate _________________________ BRAND NAMES (Manufacturers) Aquachloral Supprettes (Webcon) chloral hydrate (various manufacturers) Noctec (Squibb Mark) TYPE OF DRUG Sedative/hypnotic INGREDIENT chloral hydrate DOSAGE FORMS Capsules (250 mg and 500 mg) Oral syrup (250 mg and 500 mg per 5-ml spoonful) Suppositories (325 mg, 500 mg, and 650 mg) STORAGE Store at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. The suppositories should be kept in the glass container in which they were dispensed. Chloral hydrate is used as a sleeping aid in the treatment of insomnia. It is also used as an anti-anxiety or pain medication before or after surgical procedures. Exactly how chloral hydrate works is not clearly understood, but it is known to be a central nervous system depressant. TREATMENT Chloral hydrate should be taken 15 to 30 minutes before bedtime. In order to prevent stomach irritation, you should take chloral hydrate capsules with a full glass of water (unless your doctor directs you to do otherwise). The capsules should be swallowed whole to avoid their bad taste. Each dose of the oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The syrup should then be mixed with at least one-half glass (four ounces) of a nonalcoholic beverage (to avoid stomach irritation and to mask the taste). To insert the suppository form of this medication, first unwrap it and moisten it slightly with water (if the suppository is too soft, run cold water over it or refrigerate it for 30 minutes before you unwrap it). Lie down on your left side with your right knee bent. Push the suppository well into the rectum with your finger. Try to avoid having a bowel movement for at least an hour. The use of this drug as a sleeping aid should be limited to two weeks. After that period, chloral hydrate loses its ability to induce and sustain sleep. SIDE EFFECTS Minor. Diarrhea, dizziness, drowsiness during the day, gas, headache, nausea, stomach irritation, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, difficulty in breathing, disorientation, excitation, fatigue, feeling faint, hallucinations, hives or itching, loss of coordination, nightmares, skin rash, or yellowing of the eyes or skin. INTERACTIONS Chloral hydrate interacts with a number of other types of medications: 1. Concurrent use of chloral hydrate with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and other sleeping medications) or with tricyclic antidepressants can lead to extreme drowsiness. 2. Chloral hydrate can increase the effects of oral anti-coagulants (blood thinners, such as warfarin), which can lead to bleeding complications. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to chloral hydrate or to triclofos. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had gastritis, heart disease, inflammation of the esophagus, bowel, or rectum, kidney disease, liver disease, porphyria, or ulcers. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving an automobile or operating dangerous machinery or equipment. * Some dosage forms of this drug contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (shortness of breath, fainting, rash) in susceptible individuals. * This drug has the potential for abuse and must be used with caution. A tolerance to this medication develops quickly; do not increase the dosage or stop taking this drug unless you first consult your doctor. If you have been taking chloral hydrate for a long time or have been taking large doses, you may experience anxiety, muscle twitching, tremors, weakness, dizziness, nausea, vomiting, insomnia, or blurred vision when you stop taking it. Your doctor may, therefore, want to reduce your dosage of this medication gradually. * Be sure to tell your doctor if you are pregnant. Although extensive studies in animals and humans have not been conducted, it is known that chloral hydrate crosses the placenta. Therefore, if it is used for prolonged periods during the last three months of pregnancy, there exists the possibility that the infant will be born with an addiction to the medication and will experience a withdrawal reaction (convulsions and irritability) at birth. Also, be sure to tell your doctor if you are currently breast-feeding an infant. Small amounts of chloral hydrate are known to pass into breast milk and may cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chloral hydrate pagetitle chloral hydrate 03075.TXT Copyright (C) 1993 Publications International, Ltd. chlorambucil _________________________ BRAND NAME (Manufacturer) Leukeran (Burroughs Wellcome) TYPE OF DRUG Antineoplastic (anticancer drug) INGREDIENT chlorambucil DOSAGE FORM Tablets (2 mg) STORAGE Chlorambucil should be stored at room temperature in a tightly closed, light-resistant container. Chlorambucil belongs to a group of drugs known as alkylating agents. It is used to treat a variety of cancers. Chlorambucil works by binding to the rapidly growing cancer cells, preventing their multiplication and growth. TREATMENT Chlorambucil can be taken either on an empty stomach or with food or milk (as directed by your doctor). The timing of the doses of this medication is important. Be sure you completely understand your doctor's instructions on how this medication should be taken. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Nausea, stomach upset, or vomiting. These side effects may disappear as your body adjusts to this medication. It is important, however, to continue taking this medication despite any nausea and vomiting that may occur. Chlorambucil can also cause hair loss, which is reversible when the medication is stopped. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chills, convulsions, difficulty in breathing, fever, itching, joint pain, menstrual irregularities, mouth sores, skin rash, sore throat, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Chlorambucil can increase the blood levels of uric acid, which can block the effectiveness of antigout medications (allopurinol, probenecid, sulfinpyrazone). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs, especially to chlorambucil or melphalan. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders, chronic or recurrent infections, gout, kidney stones, or seizures. * You should not receive any immunizations or vaccinations while taking this medication. Chlorambucil blocks the effectiveness of the vaccine and may lead to overwhelming infection if a live-virus vaccine is administered. * While you are taking this medication, it is important that you drink plenty of fluids to prevent the formation of uric acid kidney stones. * Chlorambucil can lower your platelet count, which can decrease your body's ability to form blood clots. You should, therefore, be especially careful while brushing your teeth, flossing, or using toothpicks, razors, or fingernail scissors. Try to avoid falls and other injuries. Before having any surgery or other medical or dental treatment, be sure that your doctor or dentist knows that you are taking this medication. * Chlorambucil can decrease fertility in both sexes. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported in both animals and humans whose mothers received chlorambucil during pregnancy. The risks should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. It is not known whether or not chlorambucil passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chlorambucil pagetitle chlorambucil 03076.TXT Copyright (C) 1993 Publications International, Ltd. chloramphenicol (systemic) _________________________ BRAND NAMES (Manufacturers) chloramphenicol (various manufacturers) Chloromycetin Kapseals (Parke-Davis) TYPE OF DRUG Antibiotic INGREDIENT chloramphenicol DOSAGE FORMS Capsules (250 mg) Oral suspension (150 mg per 5-ml spoonful) STORAGE Chloramphenicol capsules and oral suspension should be stored at room temperature in tightly closed, light-resistant containers. This medication should never be frozen. This medication is an antibiotic that is used to treat a wide variety of bacterial infections. It attaches to the bacteria and blocks their production of protein, thereby preventing their growth and multiplication. Chloramphenicol kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Chloramphenicol is most effective if it is taken on an empty stomach one hour before or two hours after a meal. The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Chloramphenicol works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. Try not to miss any doses of this medication. If you do miss a dose, take it as soon as you remember. However, if you do not remember to take the missed dose until it is almost time for your next dose, take the missed dose immediately; space the following dose about halfway through the regular interval between doses; then continue with your regular dosing schedule. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, headache, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, depression, fever, itching, mouth sores, skin rash, sore throat, sores on the tongue, tingling sensations, unusual bleeding or bruising, or unusual weakness. Also, if the symptoms of your infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Chloramphenicol interacts with several other drugs: 1. It can increase the blood levels of dicumarol, phenytoin, phenobarbital, tolbutamide, and chlorpropamide, thereby leading to an increase in side effects. 2. Chloramphenicol can reduce the effectiveness of iron, vitamin B, and cyclophosphamide. 3. The blood levels and side effects of chloramphenicol may be increased by acetaminophen and penicillin. 4. Concurrent use of chloramphenicol and antineoplastic drugs (anticancer medicines), colchicine, gold, oxyphenbutazone, penicillamine, or phenylbutazone can lead to an increase in side effects, especially to the bone marrow. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs, especially to chloramphenicol. * Before starting to take this medication, tell your doctor if you now have or if you have ever had anemia, bleeding disorders, kidney disease, liver disease, or porphyria. * Diabetic patients should know that chloramphenicol can cause false-positive readings with the Clinitest urine glucose test. Switching to Clinistix or Tes-Tape to monitor urine glucose levels avoids this problem. * Chloramphenicol has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medication to other people or use it for other infections, unless your doctor specifically directs you to do so. * Be sure to tell your doctor if you are pregnant. Chloramphenicol crosses the placenta. Although it appears to be safe during the early stages of pregnancy, chloramphenicol can cause serious side effects in a newborn infant if it is given to the mother late in pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of chloramphenicol pass into breast milk and can cause serious side effects in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chloramphenicol (systemic) chlG pagetitle chloramphenicol (systemic) 03077.TXT Copyright (C) 1993 Publications International, Ltd. chlordiazepoxide _________________________ BRAND NAMES (Manufacturers) chlordiazepoxide hydrochloride (various manufacturers) Libritabs (Roche) Librium (Roche) Mitran (Hauck) Reposans-10 (Wesley) TYPE OF DRUG Benzodiazepine sedative/hypnotic INGREDIENT chlordiazepoxide DOSAGE FORMS Capsules (5 mg, 10 mg, and 25 mg) Tablets (5 mg, 10 mg, and 25 mg) STORAGE This medication should be stored at room temperature in tightly closed, light-resistant containers. Chlordiazepoxide is prescribed to treat the symptoms of anxiety and alcohol withdrawal. It is not clear exactly how this medicine works, but it may relieve anxiety by acting as a depressant of the central nervous system. This drug is used to relieve nervousness. It is effective for this purpose, but it is important to remove the cause of the anxiety as well. TREATMENT This medication should be taken exactly as directed by your doctor. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this medication with a dose of antacids, since they may retard its absorption. If you are taking this medication regularly and you miss a dose, take the missed dose immediately. If more than an hour has passed, however, skip the dose you missed and wait for the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Bitter taste in the mouth, constipation, depression, diarrhea, dizziness, drowsiness (after a night's sleep), dry mouth, excessive salivation, fatigue, flushing, headache, heartburn, loss of appetite, nausea, nervousness, sweating, or vomiting. As your body adjusts to the medicine, these side effects should disappear. To relieve constipation, increase the fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor instructs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, difficulty in urinating, fainting, falling, fever, hallucinations, joint pain, mouth sores, nightmares, palpitations, rash, severe depression, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS Chlordiazepoxide interacts with several other drugs: 1. To prevent oversedation, this drug should not be taken with alcohol, other sedative drugs, central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, medicines for seizures, and phenothiazine tranquilizers), or with antidepressants. 2. This medication may decrease the effectiveness of carbamazepine, levodopa, and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 3. Disulfiram, oral contraceptives (birth control pills), isoniazid, and cimetidine can increase the blood levels of chlordiazepoxide, which can lead to toxic effects. 4. Concurrent use of rifampin may decrease the effectiveness of chlordiazepoxide. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of the medications that are listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to chlordiazepoxide or other benzodiazepine tranquilizers (such as alprazolam, clorazepate, diazepam, flurazepam, halazepam, lorazepam, oxazepam, prazepam, temazepam, and triazolam). * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, epilepsy, lung disease, myasthenia gravis, porphyria, sleep apnea, mental depression, or mental illness. * This medicine can cause drowsiness. Avoid tasks that require alertness, such as driving a car or operating potentially dangerous machinery. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking this drug. * This medication has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage of the drug without first consulting your doctor. It is also important not to stop this drug suddenly if you have been taking it in large amounts or if you have used it for several weeks. Your doctor may want to reduce your dosage of this medication gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects may develop. * Be sure to tell your doctor if you are pregnant. This medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may lead to addiction of the fetus, resulting in withdrawal side effects in the newborn. Also, use of this medicine during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the infant. Tell your doctor if you are breast-feeding an infant. This medicine can pass into breast milk and cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chlordiazepoxidetran pagetitle chlordiazepoxide 03078.TXT !Copyright (C) 1993 Publications International, Ltd. chlordiazepoxide and amitriptyline combination _________________________ BRAND NAMES (Manufacturers) chlordiazepoxide and amitriptyline (various manufacturers) Limbitrol DS (Roche) TYPE OF DRUG Benzodiazepine antianxiety and antidepressant INGREDIENTS chlordiazepoxide and amitriptyline DOSAGE FORM Tablets (5 mg chlordiazepoxide and 12.5 mg amitriptyline; 10 mg chlordiazepoxide and 25 mg amitriptyline) STORAGE Chlordiazepoxide and amitriptyline combination tablets should be stored at room temperature in a tightly closed, light-resistant container. Chlordiazepoxide and amitriptyline combination is used for the treatment of depression associated with anxiety. Amitriptyline belongs to a group of drugs referred to as tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals necessary for nerve transmission in the brain. It is not clear exactly how chlordiazepoxide works, but it may relieve anxiety by acting as a depressant of the central nervous system (brain and spinal cord). TREATMENT This medication combination should be taken exactly as your doctor prescribes. In order to avoid stomach upset, you can take this medication with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). Do not take chlordiazepoxide and amitriptyline tablets with a dose of antacids--they retard absorption of this medication. If you are taking this medication regularly and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the dose. The benefits of therapy with this medication may not become apparent for two or three weeks. SIDE EFFECTS Minor. Agitation, anxiety, blurred vision, confusion, constipation, cramps, diarrhea, dizziness, drowsiness, dry mouth, fatigue, headache, heartburn, insomnia, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. These side effects should disappear as your body adjusts to the medication. This drug may cause increased sensitivity to sunlight, so avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Amitriptyline may cause the urine to turn blue-green. This is a harmless effect. Dry mouth can be relieved by chewing sugarless gum or you may choose to suck on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest tightness, convulsions, difficult or painful urination, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, impotence, mood changes, mouth sores, nervousness, nightmares, numbness in the fingers or toes, palpitations, ringing in the ears, skin rash, sore throat, tremors, uncoordinated movements or balance problems, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Chlordiazepoxide and amitriptyline combination interacts with several other types of medications: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, other benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with other antidepressants. 2. Amitriptyline may decrease the effectiveness of antiseizure medications and may block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Estrogen-containing drugs and oral contraceptives (birth control pills) can increase the side effects and reduce the effectiveness of amitriptyline. 4. Amitriptyline may increase the side effects of thyroid medication and over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, and diet medications. 5. The concurrent use of amitriptyline and monoamine oxidase (MAO) inhibitors should be avoided because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 6. Chlordiazepoxide may decrease the effectiveness of levodopa and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 7. Disulfiram, oral contraceptives (birth control pills), isoniazid, and cimetidine can increase the blood levels of chlordiazepoxide, which could possibly lead to toxic effects. 8. Concurrent use of rifampin may decrease the effectiveness of chlordiazepoxide and amitriptyline. 9. Cimetidine can decrease the elimination of amitriptyline from the body, which can increase the possibility of side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of the medications that are listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to chlordiazepoxide or other benzodiazepine tranquilizers (such as alprazolam, clorazepate, diazepam, flurazepam, halazepam, lorazepam, oxazepam, prazepam, temazepam, and triazolam), or to amitriptyline or other tricyclic antidepressants (such as desipramine, imipramine, nortriptyline, or doxepin). * Tell your doctor if you have a history of alcoholism or if you have ever had asthma, high blood pressure, liver or kidney disease, lung disease, myasthenia gravis, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * The effects of this medication may last as long as seven days after you have stopped taking it. It is therefore important that you continue to observe all precautions during this period. * This medication has the potential for abuse and must be used with caution. Tolerance develops quickly; do not increase the dosage of the drug unless you first consult your doctor. It is also important not to stop taking this drug suddenly, especially if it has been used in large amounts or has been used for longer than several weeks. Abruptly stopping this medication may cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * Be sure to tell your doctor if you are pregnant. Chlordiazepoxide may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medication during the last six months of pregnancy may lead to addiction of the fetus, resulting in withdrawal symptoms in the newborn. Use of this medication during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. This medicine may pass into breast milk and cause excessive drowsiness, slowed heartbeat, breathing difficulty, and irritability in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chlordiazepoxide and amitriptyline combinationr vi "pagetitle chlordiazepoxide and amitriptyline combination 03079.TXT Copyright (C) 1993 Publications International, Ltd. chlordiazepoxide and clidinium combination _________________________ BRAND NAMES (Manufacturers) chlordiazepoxide with clindinium bromide (various manufacturers) Clindex (Rugby) Clinoxide (Geneva Generics) Clipoxide (Schein) Librax (Roche) Lidox (Major) TYPE OF DRUG Benzodiazepine antianxiety and anticholinergic INGREDIENTS Chlordiazepoxide and clidinium DOSAGE FORM Capsules (5 mg chlordiazepoxide and 2.5 mg clidinium) STORAGE Chlordiazepoxide and clidinium combination capsules should be stored at room temperature in a tightly closed, light-resistant container. Chlordiazepoxide and clidinium combination is used in conjunction with other drugs to treat peptic ulcer or irritable bowel syndrome. Clidinium is an anticholinergic agent that slows the activity of the gastrointestinal tract and reduces the production of stomach acid. Chlordiazepoxide belongs to a group of drugs known as benzodiazepine tranquilizers. It is not clear exactly how chlordiazepoxide works, but it may relieve anxiety by acting as a depressant of the central nervous system. TREATMENT You should take chlordiazepoxide and clidinium combination 30 to 60 minutes before meals. It can be taken with water or milk. Do not take it with antacids, since they may interfere with its absorption. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for you to take your next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision, change in your sense of taste, confusion, constipation, decreased sweating, depression, diarrhea, dizziness, drowsiness, dry mouth, fatigue, headache, insomnia, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips or a piece of hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few minutes before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about decreased sexual ability, difficulty in breathing, difficult or painful urination, excitation, fluid retention, hallucinations, palpitations, rash, sore throat, uncoordinated movements, or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Extreme drowsiness can occur when this medicine is taken with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants. 2. Chlordiazepoxide can decrease the effectiveness of carbamazepine, levodopa, and oral anticoagulants (blood thinners) and may increase the effects of phenytoin. 3. Disulfiram, oral contraceptives (birth control pills), isoniazid, and cimetidine can increase the blood levels of chlordiazepoxide, which could possibly lead to toxic effects. 4. Concurrent use of rifampin may decrease the effectiveness of chlordiazepoxide and clidinium. 5. Amantadine, haloperidol, phenothiazine tranquilizers, procainamide, quinidine, and tricyclic antidepressants may increase the side effects of clidinium. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have ever had unusual or allergic reactions to any medications, especially to chlordiazepoxide or other benzodiazepine tranquilizers (such as alprazolam, clorazepate, diazepam, flurazepam, halazepam, lorazepam, oxazepam, prazepam, temazepam, and triazolam) or to clidinium. * Tell your doctor if you now have or if you have ever had glaucoma, obstructed bladder or intestine, enlarged prostate gland, heart disease, lung disease, liver disease, kidney disease, ulcerative colitis, porphyria, high blood pressure, myasthenia gravis, epilepsy, thyroid disease, emotional instability, or hiatal hernia. * This medication can decrease sweating and heat release from the body. You should, therefore, avoid becoming overheated by strenuous exercise in hot weather and should avoid taking hot baths, showers, and saunas. * This medicine can cause drowsiness. Avoid tasks that require alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking this drug. This medication has the potential for abuse and must be used with caution. Tolerance develops quickly; do not increase the dosage unless you first consult your doctor. It is also important not to stop taking this drug suddenly if you have been using it in large amounts or for longer than several weeks. Your doctor may reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects may develop. * Be sure to tell your doctor if you are pregnant. This medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may cause the baby to become dependent on it. This may result in withdrawal symptoms in the infant at birth. Use of this medicine during the last weeks of pregnancy may cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. This medicine may pass into breast milk and cause excessive drowsiness, slowed heartbeat, and breathing difficulties in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chlordiazepoxide and clidinium combinationbove pagetitle chlordiazepoxide and clidinium combination Librax 0307901.scf 03080.TXT Copyright (C) 1993 Publications International, Ltd. chlorhexidine gluconate _________________________ BRAND NAME (Manufacturer) Peridex (Procter & Gamble) TYPE OF DRUG Oral rinse INGREDIENT chlorhexidine as the gluconate salt DOSAGE FORM solution (0.12%) STORAGE This product should be stored at room temperature in a tightly closed, light-resistant container. Chlorhexidine gluconate solution should not be frozen. Chlorhexidine gluconate solution is prescribed by dentists for the treatment of gingivitis. Gingivitis is a medical term for inflammation of the gums characterized by redness, swelling, and bleeding upon probing. Although it is unknown exactly how the product works, it is believed to eliminate bacteria, which can cause dental plaque. Dental plaque is one of several causes of gingivitis. TREATMENT Treatment with chlorhexidine gluconate solution should begin following a thorough cleaning of your teeth by your dental practitioner. Measure 1/2 fluid ounce (as marked in the cap given with the product) of chlorhexidine gluconate solution, and swish in the mouth for at least 30 seconds. Do not dilute it in water or other liquids. It should be used full strength. Chlorhexidine gluconate solution should be used after brushing. Do not swallow chlorhexidine gluconate solution following use. It should be expectorated (spit out) after rinsing the mouth. SIDE EFFECTS Minor. Irritation of the inside of the mouth can occur following use of this product. In addition, some patients may experience temporary taste disturbances. However, there have been no permanent taste disturbances reported with continued use of chlorhexidine. Major. Be sure to tell your dentist about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DENTIST about any inflammation and swelling of the parotid salivary gland. Chlorhexidine may cause staining of the teeth and tongue. This staining will be more noticeable in patients who have a heavy accumulation of plaque. Usually, this staining is temporary and can be easily removed from most tooth surfaces with dental cleaning. Rarely, some persons, especially those with plaque, will have permanent stains. INTERACTIONS There do not appear to be any significant drug interactions with this medication. However, you should make sure your dentist knows about all the medications you are taking. WARNINGS * Tell your doctor about any reactions you have had to any drugs, especially to chlorhexidine gluconate solution. * Chlorhexidine gluconate solution has not been fully evaluated in children under the age of 18. Therefore, the product should not be used by children in this age group. * To determine the effectiveness of chlorhexidine use, it is advisable to have dental checkups at least every six months. * Be sure to tell your dentist if you are pregnant or breast-feeding an infant. Scientific studies have not yet determined the effects of the administration of chlorhexidine to pregnant or nursing women or their babies. Therefore, use of this product during this time should be carefully considered. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chlorhexidine gluconate pagetitle chlorhexidine gluconate 03081.TXT Copyright (C) 1993 Publications International, Ltd. chlorothiazide _________________________ BRAND NAMES (Manufacturers) chlorothiazide (various manufacturers) Diachlor (Major) Diurigen (Goldline) Diuril (Merck Sharp & Dohme) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT chlorothiazide DOSAGE FORMS Tablets (250 mg and 500 mg) Oral suspension (250 mg per 5-ml spoonful; 0.5% alcohol) STORAGE Store at room temperature in a tightly closed container. Chlorothiazide is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. It reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To decrease stomach irritation, you can take this medication with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all, just wait until the next scheduled dose. Do not double the dose. This medication does not cure high blood pressure, but it will help to control the condition. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or upset stomach. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. Avoid prolonged exposure to sunlight or sunlamps. Wear protective clothing, and use effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, itching, joint pain, mood changes, muscle pains or spasms, nausea, palpitations, skin rash, sore throat, tingling in the fingers or toes, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS Chlorothiazide diuretic and antihypertensive interacts with several other types of medications: 1. It may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 2. Fenfluramine can increase the blood-pressure-lowering effects of chlorothiazide, which can be dangerous. 3. Indomethacin can decrease the blood-pressure-lowering effects of chlorothiazide and counteract the desired effects. 4. Cholestyramine and colestipol decrease the absorption of this medication from the gastrointestinal tract. Chlorothiazide should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications). 5. The side effects of amphotericin B, calcium, cortisone-like steroids (such as cortisone, dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D may be increased by chlorothiazide. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to diuretics or any other sulfa drugs, including oral antidiabetic medications and sulfonamide antibiotics. * Before you start taking chlorothiazide, tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreas disease, or systemic lupus erythematosus. * Chlorothiazide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help avoid potassium loss, take this drug with a glass of fresh or frozen orange or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. Your doctor may want to have blood tests performed periodically to monitor your potassium levels. * Limit your intake of alcoholic beverages while taking this medication, in order to prevent dizziness and light-headedness. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems unless your doctor directs you to do so. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Therefore, blood sugar should be carefully monitored by blood or urine tests when this medication is being taken. * Be sure to tell your doctor if you are pregnant. Although studies in humans have not been conducted, chlorothiazide can cross the placenta and may cause adverse effects in the developing fetus. Also, tell your doctor if you are breastfeeding an infant. Although problems in humans have not been reported, small amounts of this drug can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chlorothiazide may pagetitle chlorothiazide 03082.TXT `(X(Copyright (C) 1993 Publications International, Ltd. chlorpromazine _________________________ BRAND NAMES (Manufacturers) chlorpromazine hydrochloride (various manufacturers) Ormazine (Hauck) Sonazine (Cord) Thorazine (Smith Kline & French) Thorazine Spansules (Smith Kline & French) Thor-Prom (Major) TYPE OF DRUG Phenothiazine tranquilizer INGREDIENT chlorpromazine hydrochloride DOSAGE FORMS Tablets (10 mg, 25 mg, 50 mg, 100 mg, and 200 mg) Sustained-release capsules (30 mg, 75 mg, 150 mg, 200 mg, and 300 mg) Oral concentrate (30 mg per ml and 100 mg per ml) Oral syrup (10 mg per 5-ml spoonful) Suppositories (25 mg and 100 mg) STORAGE The tablet and capsule forms of this drug should be stored at room temperature in tightly closed, light-resistant containers. The oral concentrate, oral syrup, and suppository forms of this drug should be stored in the refrigerator in tightly closed, light-resistant containers. If the oral concentrate or syrup turns to a slight yellow color, the medicine is still effective and can be used. However, if the oral concentrate or syrup changes color markedly or has particles floating in it, it should not be used; instead, it should be discarded down the sink. Chlorpromazine should never be frozen. Chlorpromazine is prescribed to treat the symptoms of certain types of mental illness, such as emotional symptoms of psychosis, the manic phase of manic-depressive illness, and severe behavioral problems in children. This medication is thought to relieve the symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. Chlorpromazine may also be used to treat tetanus, porphyria, uncontrollable hiccups, anxiety before surgery, and nausea and vomiting (this medication works at the vomiting center in the brain to relieve nausea and vomiting). TREATMENT To avoid stomach irritation, take the tablet or capsule forms of this medication with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). The sustained-release capsules should be taken whole; do not crush, break, or open them prior to swallowing. Breaking the capsule would release the medication all at once--defeating the purpose of the extended-release capsules. Measure the oral syrup carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The oral concentrate form of this medication should be measured carefully with the dropper provided, then added to four ounces (one-half cup) or more of water, milk, or a carbonated beverage or to applesauce or pudding immediately prior to administration. Be careful that the serving size is not more than the patient is willing or able to drink or eat; otherwise, the full dose may not be consumed. To prevent possible loss of effectiveness, the medication should not be diluted in tea, coffee, or apple juice. To use the suppository form of this medication, remove the foil wrapper and moisten the suppository with water (if the suppository is too soft to insert, refrigerate it for half an hour or run cold water over it before removing the wrapper). Lie on your left side with your right knee bent. Push the suppository into the rectum, pointed end first. Lie still for a few minutes. Try to avoid having a bowel movement for at least an hour. If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular schedule. If it is almost time for the next dose, however, skip the one you missed and return to your regular schedule. Do not double the dose (unless your doctor directs you to do so). Antacids and antidiarrheal medicines may decrease the absorption of this medication from the gastrointestinal tract. Therefore, at least one hour should separate doses of one of these medicines and chlorpromazine. The full effects of this medication for the control of emotional or mental symptoms may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drooling, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, tremors, vomiting, or weight gain. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight or sunlamps. Wear protective clothing, and use an effective sunscreen. Chlorpromazine can also cause discoloration of the urine to red, pink, or red-brown. This is a harmless effect. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; uncoordinated movements; unusual bleeding or bruising; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Chlorpromazine interacts with several types of drugs: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications) or with tricyclic antidepressants. 2. Chlorpromazine can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of cyclophosphamide, epinephrine, monoamine oxidase (MAO) inhibitors, phenytoin, and tricyclic antidepressants may be increased by this medication. 4. Chlorpromazine can increase the absorption of propranolol, which can increase the risks of side effects. 5. Lithium may increase the side effects and decrease the effectiveness of this medication. Before starting to take chlorpromazine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to chlorpromazine or any other phenothiazine tranquilizers (such as fluphenazine, mesoridazine, perphenazine, prochlorperazine, promazine, thioridazine, and trifluoperazine) or to loxapine. * Tell your doctor if you have a history of alcoholism, or if you now have or ever had blood disease, bone marrow disease, brain disease, breast cancer, blockage in the urinary or digestive tract, drug-induced depression, epilepsy, high or low blood pressure, diabetes mellitus, glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or an enlarged prostate gland. * Tell your doctor about any recent exposure to a pesticide or an insecticide. Chlorpromazine may increase the side effects from the exposure. * To prevent oversedation, avoid drinking alcoholic beverages while taking this medication. * If this drug makes you dizzy or drowsy, avoid any activity that requires alertness. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * This medication can decrease sweating and heat release from the body. You should, therefore, avoid becoming overheated by strenuous exercise in hot weather and should avoid taking hot baths, showers, and saunas. * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremors, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * If you are planning to have a myelogram or any other procedure in which dye will be injected into your spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral concentrate or oral syrup forms of this medication on your skin or clothing; it may cause redness and irritation of the skin. * While you are being treated with this medication, do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems without first checking with your doctor. The combination of these medications with chlorpromazine may cause high blood pressure. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may effect in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chlorpromazineProm[) ^)pagetitle chlorpromazine 03083.TXT Copyright (C) 1993 Publications International, Ltd. chlorpropamide _________________________ BRAND NAMES (Manufacturers) chlorpropamide (various manufacturers) Diabinese (Pfizer) TYPE OF DRUG Oral antidiabetic INGREDIENT chlorpropamide DOSAGE FORM Tablets (100 mg and 250 mg) STORAGE Store at room temperature in a tightly closed container. Chlorpropamide is used for the treatment of diabetes mellitus that appears in adulthood and cannot be managed by control of diet alone. This type of diabetes is known as non-insulin-dependent diabetes (sometimes called maturity-onset or Type II diabetes). Chlorpropamide lowers blood sugar by increasing the release of insulin from the pancreas. TREATMENT In order for this medication to work correctly, it must be taken as your doctor has directed. It is best to take this medicine at the same time each day in order to maintain a constant blood sugar level. It is important, therefore, to try not to miss any doses of this medication. If you do miss a dose, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Tell your doctor if you feel any side effects from missing a dose of this drug. Diabetics who are taking oral antidiabetic medication may need to be switched to insulin if they develop diabetic coma, have a severe infection, are scheduled for major surgery, or become pregnant. SIDE EFFECTS Minor. Diarrhea, headache, heartburn, loss of appetite, nausea, stomach discomfort, stomach pain, or vomiting. These side effects usually disappear during treatment, as your body adjusts to the medication. Chlorpropamide may increase your sensitivity to sunlight. Use caution during exposure to the sun. You may want to wear protective clothing and sunglasses. Use an effective sunscreen, and avoid exposure to sunlamps. Major. If any side effects are persistent or particularly bothersome, it is important to notify your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about dark urine, fatigue, itching of the skin, light-colored stools, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. Chlorpropamide can also cause retention of body water, which in turn can lead to drowsiness; muscle cramps; seizures; swelling or puffiness of the face, hands, or ankles; and tiredness or weakness. IT IS IMPORTANT TO TELL YOUR DOCTOR if you notice any of these side effects. INTERACTIONS Chlorpropamide interacts with a number of medications: 1. Chloramphenicol, fenfluramine, guanethidine, insulin, miconazole, monoamine oxidase (MAO) inhibitors, oxyphenbutazone, oxytetracycline, phenylbutazone, probenecid, aspirin or other salicylates, sulfinpyrazone, or sulfonamide antibiotics, when combined with chlorpropamide, can lower blood sugar levels--sometimes to dangerously low levels. 2. Thyroid hormones, dextrothyroxine, epinephrine, phenytoin, thiazide diuretics (water pills), or cortisone-like medications (such as dexamethasone, hydrocortisone, and prednisone), when combined with chlorpropamide, can actually increase blood sugar levels. 3. Rifampin can decrease the blood levels of chlorpropamide, which can lead to a decrease in its effectiveness. 4. Antidiabetic medications can increase the effects of anticoagulants (blood thinners, such as warfarin), which can lead to bleeding complications. 5. Beta-blocking medications (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, and timolol), combined with chlorpropamide, can result in either high or low blood sugar levels. Beta blockers can also mask the symptoms of low blood sugar, which can be dangerous. 6. Avoid drinking alcoholic beverages while taking this medication (unless otherwise directed by your doctor). Some patients who take this medicine suffer nausea, vomiting, dizziness, stomach pain, pounding headache, sweating, or redness of the face and skin when they drink alcohol. Also, large amounts of alcohol can lower blood sugar to dangerously low levels. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * It is important to tell your doctor if you have ever had unusual or allergic reactions to this medicine or to any sulfa medication (sulfonamide antibiotics, acetazolamide, diuretics {water pills}, or other oral antidiabetics). * Tell your doctor if you now have or if you have ever had kidney disease, liver disease, severe infection, or thyroid disease. * Follow the special diet that your doctor gave you. This is an essential part of controlling your blood sugar and is necessary in order for this medicine to work properly. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medicine. * Test for sugar in your urine as directed by your doctor. It is a convenient way to determine whether or not your diabetes is being controlled by this medicine. * Eat or drink something containing sugar right away if you experience any symptoms of low blood sugar (such as anxiety, chills, cold sweats, cool or pale skin, drowsiness, excessive hunger, headache, nausea, nervousness, rapid heartbeat, shakiness, or unusual tiredness or weakness). It is important that your family and friends know the symptoms of low blood sugar and what to do if they observe any of these symptoms in you. * Even if the symptoms of low blood sugar are corrected by eating or drinking sugar, it is important to contact your doctor as soon as possible after experiencing them. The blood-sugar-lowering effects of this medicine can last for hours, and the symptoms may return during this period. Good sources of sugar are orange juice, corn syrup, honey, sugar cubes, and table sugar. You are at greatest risk of developing low blood sugar if you skip or delay meals, exercise more than usual, cannot eat because of nausea or vomiting, or drink large amounts of alcohol. * Be sure to tell your doctor if you are pregnant. Since extensive studies have not yet been conducted, it is not known whether this medication can cause problems when administered to a pregnant woman. Cautious use of this medication is thus warranted. It is also important to tell your doctor if you are currently breast-feeding an infant. It has been determined that this medicine passes into breast milk. For this reason this product is not recommended for use by a woman who is breast-feeding. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Diabinese 0308301.scf chlorpropamideY logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle chlorpropamide 03084.TXT Copyright (C) 1993 Publications International, Ltd. chlorprothixene _________________________ BRAND NAME (Manufacturer) Taractan (Roche) TYPE OF DRUG Antipsychotic INGREDIENT chlorprothixene DOSAGE FORMS Tablets (10 mg, 25 mg, 50 mg, and 100 mg) Oral suspension (100 mg as lactate and hydrochloride per 5-ml spoonful) STORAGE Store at room temperature in a tightly closed, light-resistant container. This medication should never be frozen. Chlorprothixene is prescribed to treat the symptoms of certain types of mental illness, such as emotional symptoms of psychosis. This medication is thought to relieve the symptoms of mental illness by blocking certain chemicals involved with nerve transmission in the brain. TREATMENT To avoid stomach irritation, you can take the tablet form of this medication with a meal or with a glass of water or milk (unless your doctor directs you to do otherwise). Measure the oral suspension carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough to ensure that you receive the proper dose of chlorprothixene. Antacids and antidiarrheal medicines may decrease the absorption of this medication from the gastrointestinal tract. Therefore, it is very important to at least one hour should separate doses of chlorprothixene and one of these medicines. If you miss a dose of this medication, take the missed dose as soon as possible and return to your regular schedule. If it is within two hours of your next dose, however, skip the dose you missed and return to your regular schedule. Do not double the dose (unless your doctor directs you to do so). The full effects of this medication for the control of emotional or mental symptoms may not become apparent for two weeks after you start to take it. SIDE EFFECTS Minor. Blurred vision, constipation, decreased sweating, diarrhea, dizziness, drooling, drowsiness, dry mouth, fatigue, jitteriness, menstrual irregularities, nasal congestion, restlessness, tremors, vomiting, or weight gain. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. Chlorprothixene can also cause discoloration of the urine to red, pink, or redbrown. This is a harmless effect. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. To avoid dizziness or light-headedness when you stand, contract and relax the muscles in your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breast enlargement (in both sexes); chest pain; convulsions; darkened skin; difficulty in swallowing or breathing; fainting; fever; impotence; involuntary movements of the face, mouth, jaw, or tongue; palpitations; rash; sleep disorders; sore throat; uncoordinated movements; unusual bleeding or bruising; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Chlorprothixene interacts with several other types of medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (such as barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications) or with tricyclic antidepressants. 2. This medication can decrease the effectiveness of amphetamines, guanethidine, anticonvulsants, and levodopa. 3. The side effects of epinephrine, monoamine oxidase (MAO) inhibitors, and tricyclic antidepressants may be increased by this medication. 4. Lithium may increase the side effects and decrease the effectiveness of this medication. Before starting to take chlorprothixene, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to chlorprothixene, thiothixene, or any phenothiazine tranquilizer. * Tell your doctor if you have a history of alcoholism, or if you now have or have ever had blood disease, bone marrow disease, brain disease, breast cancer, blockage in the urinary or digestive tract, drug-induced depression, epilepsy, high or low blood pressure, dibetes mellitus glaucoma, heart or circulatory disease, liver disease, lung disease, Parkinson's disease, peptic ulcers, or an enlarged prosate gland. * Avoid drinking alcoholic beverages while taking this medication, in order to prevent oversedation. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Some of the side effects caused by this drug can be prevented by taking an antiparkinsonism drug. Discuss this with your doctor. * Chlorprothixene can decrease sweating and heat release from the body. You should, therefore, avoid becoming overheated by strenuous exercise in hot weather and avoid taking hot baths, showers, and saunas. * Do not stop taking this medication suddenly. If the drug is stopped abruptly, you may experience nausea, vomiting, stomach upset, headache, increased heart rate, insomnia, tremulousness, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * If you are planning to have a myelogram, or any other procedure in which dye will be injected into your spinal cord, tell your doctor that you are taking this medication. * Avoid spilling the oral suspension form of this medication on your skin or clothing; it can cause redness and irritation of the skin. * Chlorprothixene tablets contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (fainting, shortness of breath, or rash). * While taking this medication, do not take any over-the-counter (nonprescription) drugs for weight control or for cough, cold, allergy, asthma, or sinus problems without checking with your doctor. The combination of these medications with chlorprothixene may cause high blood pressure. * Be sure to tell your doctor if you are pregnant. Small amounts of this medication can cross the placenta. Although there are reports of safe use of this drug during pregnancy, there are also reports of liver disease and tremors in newborn infants whose mothers received this type of medication close to term. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause unwanted effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. chlorprothixene pagetitle chlorprothixene 03085.TXT Copyright (C) 1993 Publications International, Ltd. chlorthalidone _________________________ BRAND NAMES (Manufacturers) chlorthalidone (various manufacturers) Hygroton (Rorer) Hylidone (Major) Thalitone (Boehringer Ingelheim) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT chlorthalidone DOSAGE FORM Tablets (25 mg, 50 mg, and 100 mg) STORAGE Store at room temperature in a tightly closed container. Chlorthalidone is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. This medication reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To decrease stomach irritation, you can take this medication with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. This medication does not cure high blood pressure, but it will help to control the condition. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or stomach upset. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. Therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about any blurred vision, confusion, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, itching, joint pain, mood changes, muscle pains or spasms, nausea, palpitations, skin rash, sore throat, tingling in the fingers or toes, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS Chlorthalidone interacts with several other types of drugs: 1. It may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 2. Fenfluramine can increase the blood-pressure-lowering effects of chlorthalidone, which can be dangerous. 3. Indomethacin can decrease the blood-pressure-lowering effects of chlorthalidone and counteract the desired effects. 4. Cholestyramine and colestipol decrease the absorption of this medication from the gastrointestinal tract. Chlorthalidone should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications). 5. The side effects of amphotericin B, calcium, cortisone-like steroids (such as cortisone, dexamethasone, hydrocortisone, prednisone and prednisolone), digoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D may be increased by chlorthalidone. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs, especially to diuretics or any other sulfa drugs, including oral antidiabetics and sulfonamide antibiotics. * Before you start taking chlorthalidone, tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreatic disease, or systemic lupus erythematosus. * Chlorthalidone can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help avoid potassium loss, take this drug with a glass of fresh or frozen orange or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. Your doctor may want to have blood tests performed periodically to monitor your potassium levels. * Limit your intake of alcoholic beverages while taking this medication, to prevent dizziness and light-headedness. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control or for cough, cold, allergy, asthma, or sinus problems unless your doctor directs you to do so. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Therefore, blood sugar should be carefully monitored by blood or urine tests. * Be sure to tell your doctor if you are pregnant. Although studies in humans have not been conducted, chlorthalidone can cross the placenta and may cause adverse effects in the developing fetus. Also, tell your doctor if you are breastfeeding an infant. Although problems in humans have not been reported, small amounts of this drug can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Hygroton 0308501.scf chlorthalidone9 logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle chlorthalidone 03086.TXT Copyright (C) 1993 Publications International, Ltd. cholestyramine _________________________ BRAND NAMES (Manufacturers) Cholybar (Parke-Davis) Questran (Bristol Labs) Questran Light (Bristol Labs) TYPE OF DRUG Antihyperlipidemic (lipid-lowering drug) INGREDIENT cholestyramine DOSAGE FORMS Oral powder (4 gm of cholestyramine per 9 gm of powder or 4 gm of cholestyramine per 5 gm of powder) Bar (4 gm of cholestyramine per bar) STORAGE Cholestyramine should be stored at room temperature in a tightly closed container. This medication is used to lower blood cholesterol and to treat itching associated with liver disease. Cholestyramine chemically binds to bile salts in the gastrointestinal tract and prevents the body from producing cholesterol. TREATMENT Cholestyramine is usually taken before meals. Each dose should be measured carefully, then placed on the surface of two to six ounces of a beverage (water, milk, fruit juice, or other noncarbonated beverage). The powder should be allowed to sit for one to two minutes without being stirred (to prevent lumpiness). The mixture should then be stirred and completely mixed (the powder does not completely dissolve). After the solution has been drunk, the glass should be refilled with the same beverage and this solution swallowed as well (this assures that the whole dose is taken). The powder can also be mixed with soup, applesauce, or crushed pineapple. You should never take cholestyramine dry; you might accidentally inhale the powder, which could irritate your throat and lungs. For the bar form of the drug, chew thoroughly. As with the powder, this should be followed with plenty of fluids. If you miss a dose of this medication, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Cholestyramine does not cure hypercholesterolemia (high blood cholesterol levels), but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Anxiety, belching, constipation, diarrhea, dizziness, drowsiness, fatigue, gas, headache, hiccups, loss of appetite, nausea, stomach pain, vomiting, or weight loss or gain. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about backaches; bloody or black, tarry stools; difficult or painful urination; fluid retention; muscle or joint pains; rash or irritation of the skin, tongue, or rectal area; ringing in the ears; swollen glands; tingling sensations; unusual bleeding or bruising; or unusual weakness. INTERACTIONS Cholestyramine interferes with the absorption of a number of other drugs, including phenylbutazone, warfarin, thiazide diuretics (water pills), digoxin, penicillins, tetracycline, phenobarbital, folic acid, iron, thyroid hormones, cephalexin, clindamycin, trimethoprim, and fat-soluble vitamins (A, D, E, and K). The effectiveness of these medications will be decreased by cholestyramine. To avoid this interaction, take the other medications one hour before or four to six hours after a dose of cholestyramine. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to cholestyramine. * Tell your doctor if you now have or if you have ever had bleeding disorders, biliary obstruction, heart disease, hemorrhoids, gallstones or gallbladder disease, kidney disease, malabsorption, stomach ulcers, or an obstructed intestine. * Cholestyramine should be used only in conjunction with diet, weight reduction, or correction of other conditions that could be causing high blood cholesterol levels. * This product contains the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (fainting, rash, shortness of breath) in certain susceptible individuals. * The color of cholestyramine powder may vary from batch to batch. This does not affect the effectiveness of the drug. * Be sure to tell your doctor if you are pregnant. Although cholestyramine appears to be safe (because very little is absorbed into the bloodstream), extensive studies in humans during pregnancy have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether cholestyramine passes into breast milk. However, cholestyramine can decrease the absorption of some vitamins in the mother, which could result in decreased availability of the vitamins to the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cholestyramineMate pagetitle cholestyramine 03087.TXT Copyright (C) 1993 Publications International, Ltd. cimetidine _________________________ BRAND NAME (Manufacturer) Tagamet (SK-Beecham) TYPE OF DRUG Gastric acid secretion inhibitor (decreases stomach acid) INGREDIENT cimetidine DOSAGE FORMS Tablets (200 mg, 300 mg, 400 mg, and 800 mg) Oral liquid (300 mg per 5-ml spoonful, with 2.8% alcohol) STORAGE Cimetidine tablets and oral liquid should be stored at room temperature in tightly closed, light-resistant containers. This medication should never be frozen. If cimetidine is not properly stored (especially if it is exposed to light or heat) it may develop a strong, unpleasant odor. Cimetidine is used to treat duodenal and gastric ulcers. It is also used in the long-term treatment of excessive stomach acid secretion and in the prevention of recurrent ulcers. It is also used to treat gastro-esophagal reflux (backflow of stomach contents into the esophagus), which can cause heartburn. Cimetidine works by blocking the effects of histamine in the stomach, which reduces stomach acid secretion. TREATMENT Take cimetidine with, or shortly after, meals and again at bedtime (unless your doctor directs otherwise). The tablets should not be crushed or chewed, because cimetidine has a bitter taste and an unpleasant odor. The oral liquid should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. Antacids can block the absorption of cimetidine. If you are taking antacids as well as cimetidine, at least one hour should separate doses of the two medications. If you miss a dose of cimetidine, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, dizziness, drowsiness, headache, or muscle pain. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about confusion, fever, hair loss, enlarged or painful breasts (in both sexes), hallucinations, impotence, palpitations, rash, sore throat, unusual bleeding or bruising, weakness, or yellowing of the eyes or skin. INTERACTIONS Cimetidine interacts with other types of medications: 1. It can decrease the elimination, and thus increase the side effects, of theophylline, aminophylline, oxtriphylline, phenytoin, carbamazepine, beta blockers, benzodiazepine tranquilizers (such as clorazepate, chlordiazepoxide, diazepam, flurazepam, halazepam, and prazepam), tricyclic antidepressants, oral anticoagulants (blood thinners, such as warfarin), lidocaine, verapamil, quinidine, nifedipine, metronidazole, codeine, and morphine. 2. The combination of cimetidine and antineoplastic agents (anticancer drugs) may increase the risk of blood disorders. 3. The absorption of ketoconazole is decreased by cimetidine; at least two hours should separate doses of these two drugs. 4. Cimetidine may decrease the blood levels and effectiveness of digoxin. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to medications, especially to cimetidine, famotidine, nizatidine, or ranitidine. * Tell your doctor if you now have or if you have ever had arthritis, kidney disease, liver disease, or organic brain syndrome. * Cimetidine can decrease the elimination of alcohol from the body, which can prolong its intoxicating effects. * Cimetidine should be taken continuously for as long as your doctor prescribes. Stopping therapy early may be a cause of ineffective treatment. * Cigarette smoking may block the beneficial effects of therapy with cimetidine. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Be sure to tell your doctor if you are pregnant. Cimetidine appears to be safe during pregnancy; however, extensive testing has not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of cimetidine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Tagamet 200 mg,Tagamet 300 mg 0308701.scf,0308702.scf cimetidine5 logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle cimetidine 03056.TXT Copyright (C) 1993 Publications International, Ltd. brompheniramine _________________________ BRAND NAMES (Manufacturers) Bromphen (various manufacturers) brompheniramine maleate (various manufacturers) Diamine T.D. (Major) Dimetane [*] (Robins) Dimetane Extentabs [*] (Robins) Veltane (Lannett) * Available over-the-counter (without a prescription) TYPE OF DRUG Antihistamine INGREDIENT brompheniramine DOSAGE FORMS Tablets (4 mg and 8 mg) Sustained-release tablets (8 mg and 12 mg) Oral elixir (2 mg per 5-ml spoonful, with or without 3% alcohol) STORAGE Brompheniramine tablets and oral elixir should be stored at room temperature in tightly closed containers. This medication is an antihistamine (antihistamines block the action of histamine, a chemical released by the body during an allergic reaction). Brompheniramine is used to treat or prevent symptoms of allergy. TREATMENT To avoid stomach upset, take brompheniramine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). The elixir form should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. The sustained-release tablets should be swallowed whole. Breaking, chewing, or crushing them destroys their sustained-release activity and may increase side effects. If you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Blurred vision; confusion; constipation; diarrhea; difficult or painful urination; dizziness; dry mouth, throat, or nose; headache; irritability; loss of appetite; nausea; restlessness; ringing or buzzing in the ears; stomach upset; or unusual increase in sweating. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so.) Chew sugarless gum, or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about a change in menstruation, clumsiness, feeling faint, flushing of the face, hallucinations, palpitations, rash, seizures, shortness of breath, sleeping disorders, sore throat or fever, tightness in the chest, unusual bleeding or bruising, or unusual tiredness or weakness. INTERACTIONS Brompheniramine interacts with several other drugs: 1. Concurrent use of it with central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, and tranylcypromine) can increase the side effects of this medication. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. Brompheniramine can decrease the activity of oral anticoagulants (blood thinners, such as warfarin). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to brompheniramine or to any other antihistamine (such as carbinoxamine, chlorpheniramine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, terfenadine, trimeprazine, tripelennamine, and triprolidine). * Tell your doctor if you now have or if you have ever had asthma, blood vessel disease, glaucoma, high blood pressure, kidney disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * Brompheniramine can cause drowsiness or dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should be taken. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of brompheniramine pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. brompheniramine pagetitle brompheniramine 03057.TXT Copyright (C) 1993 Publications International, Ltd. bumetanide _________________________ BRAND NAME (Manufacturer) Bumex (Roche) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT bumetanide DOSAGE FORM Tablets (0.5 mg, 1 mg, and 2 mg) STORAGE Bumetanide should be stored at room temperature in a tightly closed, light-resistant container. Bumetanide is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. This medication reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To decrease stomach irritation, you can take this medication with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 P.M.; otherwise you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next one. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the next dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Blurred vision, constipation, cramps, diarrhea, dizziness, headache, loss of appetite, sore mouth, or stomach upset. As your body adjusts to the medication, these side effects should disappear. This medication causes an increase in the amount of urine or frequency of urination when you first begin to take it. It may also cause you to have an unusual feeling of tiredness. These effects should lessen after several days. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain cereals and breads) and exercise (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal pain, confusion, difficulty in breathing, dry mouth, fainting, itching, joint pains, loss of appetite, mood changes, muscle pain and cramps, nausea, palpitations, rash, ringing in the ears, sore throat, thirst, tingling in the fingers and toes, unusual bleeding or bruising, vomiting, weakness, or yellowing of the eyes or skin. INTERACTIONS Bumetanide interacts with several other types of drugs: 1. It can increase the side effects of alcohol, barbiturates, narcotics, cephalosporin antibiotics, chloral hydrate, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, amphotericin B, cisplatin, mercaptopurine, and polymyxin B. 2. Probenecid and indomethacin may decrease the diuretic effectiveness of this medication. Before taking bumetanide, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to bumetanide, other diuretics, or any other sulfa drugs, including oral antidiabetic medicines or sulfonamide antibiotics. * Before you start taking this medication, tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, or asthma. * Bumetanide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. Your doctor may want to have blood tests performed periodically in order to monitor your potassium levels. To help avoid potassium loss, take this medication with a glass of fresh or frozen orange or cranberry juice, or eat a banana every day. The use of a salt substitute also helps prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium may also be dangerous. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking bumetanide. * In order to avoid dizziness or fainting while taking this medication, try not to stand for long periods of time; avoid drinking excessive amounts of alcohol; and avoid strenuous exercise in hot weather, as well as hot baths, showers, and saunas. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medication for weight control or for cough, cold, allergy, asthma, or sinus problems, unless you first check with your doctor. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Therefore, blood sugar should be monitored carefully with blood or urine tests when this medication is being taken. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta. Although studies in humans have not been conducted, adverse effects have been reported in the offspring of animals that were given large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, it is not known if bumetanide passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. bumetanide to pagetitle bumetanide 03058.TXT Copyright (C) 1993 Publications International, Ltd. bupropion _________________________ BRAND NAME (Manufacturer) Wellbutrin (Burroughs Wellcome) TYPE OF DRUG Antidepressant INGREDIENT bupropion hydrochloride DOSAGE FORM Tablets (75 mg and 100 mg) STORAGE Store at room temperature in a tightly closed container. Bupropion is used to relieve the symptoms of mental depression in patients who cannot take other medications. The exact mechanism of action of bupropion is unknown, but it is thought to relieve depression by altering the concentration of certain chemicals that are necessary for nerve transmission in the brain. TREATMENT It is important to take your medication on a regular schedule as recommended by your physician. If you miss a dose and the next regular dose should be taken in less than six hours, skip the missed dose and take the next dose at the regularly scheduled time. Never double the dose. The effects of this medication may not become apparent for several weeks. SIDE EFFECTS Minor. Constipation, decreased appetite, decreased sexual ability, diarrhea, dizziness, dry mouth, excessive sweating, fatigue, headache, irregular heartbeat, insomnia, nausea, sedation, or vomiting. These side effects should decrease or disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To decrease dry mouth, chew sugarless gum or suck on ice chips or hard candy. To avoid dizziness or light-headedness when you stand, contract and relax the muscles in your legs for a few moments before rising from a sitting or reclining postion. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, blurred vision, movement disorders, rash, tremors, or seizures. INTERACTIONS 1. Bupropion may decrease the effectiveness of carbamazepine, phenobarbital, or phenytoin, which may lead to increased seizures. 2. Bupropion can interact with monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. Bupropion may decrease the effectiveness of cimetidine. 4. Alcohol may increase the side effects of bupropion. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to bupropion. * Tell your doctor if you now have or have ever had cataracts or vision problems, seizures or epilepsy, bulimia, anorexia nervosa, mania, liver or kidney disease, or respiratory disorders. * This medication may make you tired or drowsy or affect your thinking ability. You should not operate potentially dangerous equipment or drive an automobile until you know how this drug affects you. * Do not stop taking this medication abruptly or increase the dose unless directed by your physician. Stopping abruptly or increasing your dose in large amounts can lead to increased side effects. * Do not take any over-the-counter (nonprescription) medication or new prescription drug without discussing it with your doctor or pharmacist. Many over-the-counter preparations and some prescription medications may interact with bupropion. * Tell your doctor if you are pregnant. In high doses, bupropion has caused chromosomal changes in animals, but the effects in humans are unknown. Also, tell your doctor if you are breast-feeding an infant. This medication can pass into the breast milk and lead to adverse effects in the infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Wellbutrin 0305801.scf bupropion logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle bupropion 03059.TXT Copyright (C) 1993 Publications International, Ltd. buspirone _________________________ BRAND NAME (Manufacturer) BuSpar (Mead Johnson Pharm) TYPE OF DRUG Antianxiety agent INGREDIENT buspirone hydrochloride DOSAGE FORM Tablets (5 mg and 10 mg) STORAGE Buspirone should be stored at room temperature in a tightly closed container. Avoid exposure to high temperatures (greater than 86 degrees_F). Buspirone is prescribed as a treatment for the symptoms of anxiety. It is not yet understood exactly how this medication works. Buspirone has been shown to be effective in relieving symptoms of anxiety, but it is important that you try to identify and remove the cause of the anxiety as well. TREATMENT Buspirone should be taken exactly as directed by your doctor. It can be taken with food or a full glass of water if stomach upset occurs. If you are taking this drug regularly and miss a dose, take the missed dose immediately if you remember within an hour. If more time has passed, however, skip the dose you missed and wait for the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Diarrhea, dizziness, excitement, fatigue, headache, lightheadedness, nasal congestion, nausea, nervousness, sleeping problems, sweating, or weakness. These side effects should disappear as your body adjusts to this medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, feelings of anger, incoordination, muscle pain, numbness, rash, ringing in the ears, sore throat, tingling in your fingers or toes, or tremors. INTERACTIONS Although extensive studies have not yet been completed, buspirone may interact with several other medications. To prevent oversedation, this drug should not be taken with alcohol or other central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medicines, narcotics, medicines for seizures, phenothiazine tranquilizers, and antidepressants). Before starting buspirone, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Before starting buspirone, be sure to tell your doctor about any unusual or allergic reactions you have had to any medications, especially to buspirone. * Be sure to tell your doctor if you now have or if you have ever had kidney disease, liver disease, or any type of psychiatric disorder. * Until you experience how this medication affects you, do not drive a car or operate potentially dangerous machinery. * Be sure to tell your doctor if you are pregnant. Although buspirone does appear to be safe in animals, complete studies in pregnant women have not been conducted. Also, be sure to tell your doctor if you are breast-feeding an infant. Small amounts of buspirone have been shown to pass into the milk of animals. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. buspirone pagetitle buspirone 03060.TXT Copyright (C) 1993 Publications International, Ltd. busulfan _________________________ BRAND NAME (Manufacturer) Myleran (Burroughs Wellcome) TYPE OF DRUG Antineoplastic (anticancer drug) INGREDIENT busulfan DOSAGE FORM Tablets (2 mg) STORAGE Busulfan should be stored at room temperature in a tightly closed container. Busulfan belongs to a group of drugs known as alkylating agents. It is used to treat leukemia. This medication works by binding to the rapidly growing cancer cells, preventing their multiplication and growth. TREATMENT Busulfan can be taken either on an empty stomach or with food or milk (as directed by your doctor). The timing of the doses of this medication is important. Be sure you completely understand your doctor's instructions on how this medication should be taken. If you miss a dose of this medication, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, dizziness, nausea, stomach upset, or vomiting. These side effects may disappear as your body adjusts to the medication. However, it is important to continue taking this medication despite any nausea or vomiting that may occur. Busulfan also causes hair loss, which is reversible when the medication is stopped. If you feel dizzy, sit or lie down for a while; get up from a sitting or lying position slowly. Major. Be sure to tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, breast enlargement (in both sexes), chills, confusion, cough, darkening of the skin, difficulty in breathing, dry skin, fatigue, fever, itching, joint pain, loss of appetite, menstrual irregularities, mouth sores, muscle weakness, skin rash, sore throat, unusual bleeding or bruising, weight loss, or yellowing of the eyes or skin. INTERACTIONS Busulfan can increase the blood levels of uric acid, which can block the effectiveness of antigout medications (allopurinol, probenecid, sulfinpyrazone). Before starting to take busulfan, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any antigout medication. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to busulfan. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had blood disorders, chronic or recurrent infections, chicken pox or shingles, gout, or kidney stones. * You should not receive any immunizations or vaccinations while taking this medication. Busulfan blocks the effectiveness of the vaccine and may result in infection. * It is important to drink plenty of fluids (up to two or three quarts each day) while taking this medication, in order to prevent uric acid kidney stones from developing. * Busulfan can lower your platelet count, thereby decreasing your body's ability to form blood clots. You should, therefore, be especially careful while brushing your teeth, flossing, or using toothpicks, razors, or fingernail scissors. Try to avoid falls and other injuries. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Busulfan can decrease fertility in both men and women. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported in both animals and humans whose mothers received busulfan during pregnancy. The risks should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. It is not known whether busulfan passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. busulfanoth 5 pagetitle busulfan 03061.TXT Copyright (C) 1993 Publications International, Ltd. calcifediol _________________________ BRAND NAME (Manufacturer) Calderol (Organon) TYPE OF DRUG Vitamin D analog INGREDIENT calcifediol (25-hydroxycholecalciferol) DOSAGE FORM Capsules (20 mcg and 50 mcg) STORAGE Calcifediol capsules should be stored at room temperature in a tightly closed, light-resistant container. Vitamin D is essential to many body systems, including bone structure, regulation of blood calcium levels, and heart and muscle contraction. Since vitamin D is activated in the kidneys, patients with chronic (long-term) kidney failure are unable to produce enough active vitamin D on their own. Calcifediol is one of the active forms of vitamin D. This medication is used to treat bone disease and hypocalcemia (low blood calcium levels) in patients on dialysis. TREATMENT Calcifediol can be taken either on an empty stomach or with food or milk (as directed by your doctor). The capsules should be swallowed whole; do not crush or chew them. If you miss a dose of this drug, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. None, at the dosages normally prescribed. Major. The side effects associated with calcifediol therapy are usually the result of too much medication (vitamin D toxicity). Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, bone pain, constipation, dry mouth, headache, irritability, loss of appetite, mental disorders, metallic taste in the mouth, muscle pain, nausea, palpitations, runny nose, increased thirst, increased urination, vomiting, weakness, or weight loss. INTERACTIONS Calcifediol interacts with several types of medications: 1. The dosage of calcifediol may need to be altered if anticonvulsant medication (such as phenytoin, phenobarbital, and primidone) is started. 2. Cholestyramine, colestipol, and mineral oil can decrease the absorption of calcifediol from the gastrointestinal tract. 3. Use of magnesium-containing antacids along with calcifediol may cause high blood levels of magnesium. 4. Calcifediol may lower the effectiveness of verapamil. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to calcifediol, calcitriol, dihydrotachysterol, ergocalciferol, or vitamin D. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had heart or blood vessel disease, hypercalcemia (high levels of calcium in the bloodstream), hyperphosphatemia (high levels of phosphate in the bloodstream), kidney disease, vitamin D intoxication, or sarcoidosis. * Before taking over-the-counter (nonprescription) products that contain calcium, phosphates, magnesium, or vitamin D, consult your doctor. These ingredients can increase the side effects of calcifediol. * Be sure to tell your doctor if you are pregnant. Although calcifediol (in normal doses) appears to be safe during pregnancy, extensive studies in humans have not been conducted. Birth defects have been reported in the offspring of animals that received large doses of this medication during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of calcifediol pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. calcifediol pagetitle calcifediol 03062.TXT Copyright (C) 1993 Publications International, Ltd. calcitriol _________________________ BRAND NAME (Manufacturer) Rocaltrol (Roche) TYPE OF DRUG Vitamin D analog INGREDIENT calcitriol (1.25-dihydroxycholecalciferol) DOSAGE FORM Capsules (0.25 mcg and 0.5 mcg) STORAGE Calcitriol should be stored at room temperature in a tightly closed, light-resistant container. Vitamin D is essential to bone structure, regulation of blood calcium levels, and heart and muscle contraction. Since vitamin D is activated in the kidneys, patients with chronic kidney failure are unable to produce enough active vitamin D on their own. Calcitriol is one of the active forms of vitamin D. This drug is used to treat bone disease and hypocalcemia (low blood calcium levels) in dialysis patients. TREATMENT Calcitriol can be taken either on an empty stomach or with food or milk (as directed by your doctor). The capsules should be swallowed whole; do not crush or chew them. If you miss a dose of this drug, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. None, at the dosages normally prescribed. Major. Side effects result from too much medication (vitamin D toxicity). Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about appetite loss, blurred vision, bone pain, constipation, dry mouth, headache, irritability, mental disorders, metallic taste, muscle pain, nausea, palpitations, runny nose, increased thirst, increased urination, vomiting, weakness, or weight loss. INTERACTIONS Calcitriol interacts with several types of medications: 1. The dosage of calcitriol may need to be adjusted if anticonvulsant medication (phenytoin, phenobarbital, or primidone) is started. 2. Cholestyramine, colestipol, and mineral oil can decrease the absorption of calcitriol from the gastrointestinal tract. 3. Use of magnesium-containing antacids along with calcitriol may cause high blood levels of magnesium. 4. Calcitriol may lower the effectiveness of verapamil. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to calcitriol, calcifediol, dihydrotachysterol, ergocalciferol, or vitamin D. * Before starting to take this drug, tell your doctor if you have ever had heart or blood vessel disease, hypercalcemia (high levels of blood calcium), hyperphosphatemia (high levels of blood phosphate), kidney disease, vitamin D intoxication, or sarcoidosis. * Before taking any over-the-counter (nonprescription) products that contain calcium, phosphates, magnesium, or vitamin D, check with your doctor. These ingredients can increase the side effects of calcitriol. * Be sure to tell your doctor if you are pregnant. Although calcitriol appears to be safe during pregnancy in humans, birth defects have been reported in the offspring of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Studies have shown that small amounts of calcitriol may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. calcitriolabil pagetitle calcitriol 03063.TXT Copyright (C) 1993 Publications International, Ltd. captopril _________________________ BRAND NAME (Manufacturer) Capoten (Bristol-Myers Squibb) TYPE OF DRUG Antihypertensive INGREDIENT captopril DOSAGE FORM Tablets (12.5 mg, 25 mg, 50 mg, and 100 mg) STORAGE Captopril should be stored at room temperature in a tightly closed container. Captopril is used to treat high blood pressure and congestive heart failure. It is a vasodilator (it dilates the blood vessels) that acts by blocking the production of chemicals that may be responsible for constricting or narrowing blood vessels. TREATMENT To obtain maximum benefit from captopril, you should take it on an empty stomach one hour before meals. In order to become accustomed to taking this medication, try to take it at the same time(s) every day. It may be several weeks before you notice the full effects of this medication. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. Captopril does not cure high blood pressure, but it will help control the condition as long as you continue to take this drug. SIDE EFFECTS Minor. Abdominal pain, constipation, cough, diarrhea, dizziness, dry mouth, fatigue, flushing, headache, insomnia, loss of taste, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To relieve mouth dryness, suck on ice chips or a piece of hard candy or chew sugarless gum. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain; chills; difficult or painful urination; fever; itching; mouth sores; palpitations; prolonged vomiting or diarrhea; rash; sore throat; swelling of the face, hands, or feet; tingling in the fingers or toes; unusual bleeding or bruising; or yellowing of the eyes or skin. INTERACTIONS Captopril interacts with several other types of medications: 1. Diuretics (water pills) and other antihypertensive medications can cause an excessive drop in blood pressure when combined with captopril (especially with the first dose). 2. The combination of captopril with spironolactone, triamterene, amiloride, potassium supplements, or salt substitutes can lead to hyperkalemia (dangerously high levels of potassium in the bloodstream). 3. Antineoplastic agents (anticancer drugs) or chloramphenicol can increase the bone marrow side effects of captopril. 4. Concurrent use of captopril and allopurinol can increase the risk of developing an allergic reaction. 5. Indomethacin can decrease the blood-pressure-lowering effects of captopril. 6. Captopril can delay the body's elimination of lithium. Concurrent use of captopril and lithium may cause lithium toxicity. Before starting captopril, BE SURE TO TELL YOUR DOCTOR about any drugs you are taking, especially any of those listed above. WARNINGS * Tell your doctor about any reactions you have had to medications, especially to captopril or enalapril. * Tell your doctor if you now have or if you have ever had aortic stenosis, blood disorders, kidney disease, kidney transplant, liver disease, systemic lupus erythematosus, or a heart attack or stroke. * Be careful--excessive perspiration, dehydration, or prolonged vomiting or diarrhea can lead to an excessive drop in blood pressure while you are taking this medication. Contact your doctor if you have any of these symptoms. * Before having surgery or other medical or dental treatment, tell your doctor you are taking this drug. * The first few doses of this drug may cause dizziness. Try to avoid any sudden changes in posture. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control, or for allergy, asthma, sinus, cough, or cold problems unless you first check with your doctor. * Do not stop taking this medication unless you first consult your doctor. Stopping this drug abruptly may lead to a rise in blood pressure. * Be sure to tell your doctor if you are pregnant. Captopril has been found to cause birth defects in the fetus if taken during the second or third trimester of pregnancy. Also tell your doctor if you are breast-feeding an infant. Captopril passes into breast milk. The effects of this drug on the infant have not been determined. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Capoten 0306301.scf captopril logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle captopril 03064.TXT $Copyright (C) 1993 Publications International, Ltd. captopril and hydrochlorothiazide combination _________________________ BRAND NAME (Manufacturer) Capozide (Squibb) TYPE OF DRUG Antihypertensive and diuretic INGREDIENTS captopril and hydrochlorothiazide DOSAGE FORM Tablets (25 mg captopril and 15 mg hydrochlorothiazide; 25 mg captopril and 25 mg hydrochlorothiazide; 50 mg captopril and 15 mg hydrochlorothiazide; 50 mg captopril and 25 mg hydrochlorothiazide) STORAGE Captopril and hydrochlorothiazide combination tablets should be stored at room temperature in a tightly closed container. This medication should be stored away from moisture and high heat (above 86 degrees_F). Captopril and hydrochlorothiazide combination is used to treat high blood pressure. Captopril is a vasodilator (it widens the blood vessels) that acts by blocking the production of chemicals that may be responsible for constricting blood vessels. Hydrochlorothiazide is a diuretic (water pill), which reduces body fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To obtain the maximum benefit from this medication, take it on an empty stomach one hour before meals. In order to become accustomed to taking this medication, try to take it at the same time(s) every day. Avoid taking a dose of this medication after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. It may be several weeks before you notice the full effects of this medication. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. Captopril and hydrochlorothiazide combination does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Abdominal pain, blurred vision, constipation, cough, cramping, diarrhea, dizziness, fatigue, flushing, headache, insomnia, loss of appetite, or loss of taste. These side effects should disappear as your body adjusts to this medication. Hydrochlorothiazide can increase your sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise (unless your doctor directs you to do otherwise). To relieve mouth dryness, suck on ice chips or hard candy or chew sugarless gum. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by alternately pushing one foot against the floor while raising the other foot slightly, so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain; chills; cough; difficult or painful urination; dry mouth; fever; hair loss; itching; mouth sores; muscle pain or cramps; nausea; palpitations; rash; shortness of breath; sore throat; swelling of the face, hands, or feet; thirst; tingling in the fingers or toes; unusual bleeding or bruising; vomiting; weakness; or yellowing of the eyes or skin. INTERACTIONS Captopril and hydrochlorothiazide combination can interact with several other types of medications: 1. The combination of captopril with spironolactone, triamterene, amiloride, potassium supplements, or salt substitutes can lead to hyperkalemia (dangerously high levels of potassium in the bloodstream). 2. Antineoplastic agents (anticancer drugs) and chloramphenicol can increase the bone marrow side effects of captopril. 3. Concurrent use of captopril and allopurinol can increase the risk of developing an allergic reaction. 4. Diuretics (water pills) and other antihypertensive medications can cause an excessive drop in blood pressure when combined with captopril (especially with the first dose). 5. Hydrochlorothiazide can decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 6. Captopril can delay the body's elimination of lithium. Concurrent use of captopril and lithium may cause lithium toxicity. 7. Fenfluramine can increase the blood-pressure-lowering effects of hydrochlorothiazide (which can be dangerous). 8. Indomethacin can decrease the blood-pressure-lowering effects of captopril and hydrochlorothiazide, thereby counteracting the desired effects. 9. Cholestyramine and colestipol decrease the absorption of hydrochlorothiazide from the gastrointestinal tract. Hydrochlorothiazide should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these drugs). 10. Hydrochlorothiazide may increase the side effects of amphotericin B, calcium supplements, cortisone and cortisone-like steroids (such as dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D. Before starting captopril and hydrochlorothiazide combination, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to captopril or to hydrochlorothiazide or other diuretics (such as bendroflumethiazide, benzthiazide, chlorothiazide, chlorthalidone, cyclothiazide, hydroflumethiazide, methyclothiazide, metolozone, polythiazide, quinethazone, trichlormethiazide, and furosemide) or to sulfa medications (oral antidiabetic medications or sulfonamide antibiotics). * Tell your doctor if you have ever had aortic stenosis, blood disorders, diabetes mellitus, gout, kidney disease or problems with urination, kidney transplant, liver disease, pancreatic disease, a heart attack, or systemic lupus erythematosus. * Hydrochlorothiazide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help prevent this problem, your doctor may have blood tests performed periodically to monitor your potassium levels. To help avoid potassium loss, take this medication with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, until you discuss it with your doctor. Too much potassium may also be dangerous. * Limit your intake of alcoholic beverages while taking this medication, in order to prevent dizziness and light-headedness. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, cough, cold, or sinus problems, unless your doctor directs you to do so. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous diarrhea, nausea, or vomiting. * This medication can raise blood sugar levels in diabetic patients. Therefore, sugar levels should be carefully monitored with blood or urine tests when this medication is started. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * This drug may cause dizziness. Use caution while driving or operating potentially dangerous machinery. * A "fixed-dose" drug like this is not generally the first choice in the treatment of high blood pressure. Usually, the patient first receives each ingredient singly. If there is an adequate response to the fixed dose contained in this product, it can then be substituted. The advantage of a combination product is increased convenience and (often) decreased cost. * Do not stop taking this medication unless you first consult your doctor. Stopping this drug abruptly may lead to a rise in blood pressure. * Be sure to tell your doctor if you are pregnant. Captopril has been found to cause birth defects in the fetus if taken during the second or third trimester of pregnancy. Hydrochlorothiazide can cause adverse effects in the newborn infant if it is given to the mother close to term. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of this drug can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. captopril and hydrochlorothiazide combination %pagetitle captopril and hydrochlorothiazide combination 03065.TXT Copyright (C) 1993 Publications International, Ltd. carbamazepine _________________________ BRAND NAMES (Manufacturers) carbamazepine (various manufacturers) Epitol (Lemmon) Tegretol (Geigy) Tegretol Chewable (Geigy) TYPE OF DRUG Anticonvulsant INGREDIENT carbamazepine DOSAGE FORMS Tablets (200 mg) Chewable tablets (100 mg) Oral suspension (100 mg per 5-ml spoonful) STORAGE Carbamazepine tablets and oral suspension should be stored at room temperature in tightly closed containers. This medication is used for the treatment of seizure disorders and for relief of neuralgia (nerve pain). The mechanism of carbamazepine's antiseizure activity is unknown, but it is not related to other anticonvulsants. Carbamazepine is not an ordinary pain reliever--it should not be used for minor aches or pains. TREATMENT Carbamazepine can be taken with food if stomach upset occurs, unless your doctor directs otherwise. Carbamazepine works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take it at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose unless your doctor directs you to do so. If you are taking carbamazepine for a seizure disorder and you miss two or more doses, be sure to contact your doctor. SIDE EFFECTS Minor. Agitation; blurred vision; confusion; constipation; diarrhea; dizziness; drowsiness; dry mouth; headache; loss of appetite; muscle or joint pain; nausea; restlessness; sweating; vomiting; or weakness. These side effects should disappear over time and as your body adjusts to the medication. This medication can increase your sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To relieve mouth dryness, suck on ice chips or a piece of hard candy or chew sugarless gum. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Be sure to tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT FOR YOU TO TELL YOUR DOCTOR about abdominal pain, chills, depression, difficulty in breathing, difficulty in urinating, eye discomfort, fainting, fever, hair loss, hallucinations, impotence, loss of balance, mouth sores, nightmares, numbness or tingling sensations, palpitations, ringing in the ears, skin rash, sore throat, swelling of the hands and feet, twitching, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Carbamazepine interacts with other types of medications: 1. Concurrent use of it with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Phenobarbital, phenytoin, and primidone can decrease blood levels and effectiveness of carbamazepine. 3. Isoniazid, propoxyphene, verapamil, cimetidine, troleandomycin, and erythromycin can increase the blood levels of carbamazepine, which can increase side effects. 4. The combination of lithium and carbamazepine can lead to central nervous system side effects. 5. Carbamazepine can decrease the effectiveness of phenytoin, oral anticoagulants (blood thinners, such as warfarin), doxycycline, oral contraceptives (birth control pills), ethosuximide, valproic acid, aminophylline, and theophylline. 6. The use of carbamazepine within 14 days of the use of a monoamine oxidase (MAO) inhibitor can lead to serious side effects. Before you start to take carbamazepine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to carbamazepine or to tricyclic antidepressants (such as amitriptyline, desipramine, doxepin, imipramine, protriptyline, or nortriptyline). * Tell your doctor if you now have or if you have ever had bone marrow depression, blood disorders, difficulty urinating, glaucoma, heart or blood vessel disease, kidney disease, or liver disease. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * If this medication makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * If you are taking this medication to control a seizure disorder, do not stop taking it suddenly. If you stop abruptly, you may experience uncontrollable seizures. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported more often in infants whose mothers have seizure disorders. It is unclear if the increased risk of birth defects is associated with the disorder or with the anticonvulsant medications, such as carbamazepine, that are used to treat the condition. The risks and benefits of treatment should be discussed with your doctor. Also, tell your doctor if you are breast-feeding an infant. Small amounts of carbamazepine pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Tegretol Chewable 0306501.scfU carbamazepine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials e fo% pagetitle carbamazepine 03066.TXT Copyright (C) 1993 Publications International, Ltd. carbenicillin _________________________ BRAND NAME (Manufacturer) Geocillin (Roerig) TYPE OF DRUG Antibiotic INGREDIENT carbenicillin indanyl sodium DOSAGE FORM Tablets (382 mg) STORAGE Store at room temperature in a tightly closed container. Carbenicillin is used to treat infections of the urinary tract, respiratory tract, skin, abdomen, and the prostate gland. It acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Carbenicillin kills susceptible bacteria but is not effective against viruses, parasites, or fungi. TREATMENT This drug should be taken on an empty stomach with a glass of water one hour before or two hours after a meal. Carbenicillin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are taking four doses a day, the doses should be spaced six hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose about halfway through the regular interval between doses; and then return to your regular schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms of the infection disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given the chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloating, chills, cough, darkened tongue, difficulty in breathing, fever, irritation of the mouth, muscle aches, rash, rectal or vaginal itching, severe diarrhea, or sore throat. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Carbenicillin interacts with other types of medications: 1. Probenecid can increase the blood concentrations and side effects of this medication. 2. Carbenicillin may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking this medication. BE SURE TO TELL YOUR DOCTOR about any medications that you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any drugs, especially to carbenicillin or penicillins or to cephalosporin antibiotics, penicillamine, or griseofulvin. * Tell your doctor if you now have or if you have ever had allergies, asthma, bleeding problems, bowel disease, or kidney disease. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people, or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking carbenicillin should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem, while taking carbenicillin you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although carbenicillin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Geocillin 0306601.scf carbenicillin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle carbenicillin 03067.TXT Copyright (C) 1993 Publications International, Ltd. carisoprodol _________________________ BRAND NAMES (Manufacturers) carisoprodol (various manufacturers) Rela (Schering) Sodol (Major) Soma (Wallace) Soprodol (Schein) TYPE OF DRUG Muscle relaxant INGREDIENT carisoprodol DOSAGE FORM Tablets (350 mg) STORAGE Carisoprodol should be stored at room temperature in a tightly closed container. This medication is used to relieve painful muscle conditions. It should be used in conjunction with rest, physical therapy, and other measures to alleviate discomfort. It is not clear exactly how carisoprodol works, but it is thought to act as a central nervous system depressant. However, carisoprodol does not seem to act directly on the muscles of the body. TREATMENT In order to avoid stomach irritation, you can take carisoprodol with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). If you miss a dose of this medication and remember within an hour, take the missed dose immediately. If more than an hour has passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of this drug. SIDE EFFECTS Minor. Dizziness, drowsiness, headache, hiccups, insomnia, nausea, stomach pain, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, depression, fainting, irritability, loss of coordination, palpitations, or tremors. INTERACTIONS Carisoprodol interacts with several other types of drugs: Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with tricyclic antidepressants can lead to extreme drowsiness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to carisoprodol, meprobamate, or tybamate. * Before starting to take carisoprodol, tell your doctor if you now have or if you have ever had kidney disease, liver disease, or porphyria. * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, fainting, shortness of breath) in certain susceptible individuals. * Carisoprodol has the potential for abuse and should be used with caution. Do not increase the dosage or stop taking the drug unless you first consult your doctor. If you have been taking carisoprodol for several months and you stop taking it abruptly, you could experience a withdrawal reaction. Your doctor may, therefore, want to decrease your dosage of the medication gradually. * Be sure to tell your doctor if you are pregnant. Although carisoprodol appears to be safe during pregnancy, extensive studies have not been conducted in humans. Also, tell your doctor if you are breast-feeding an infant. This medication passes into breast milk and can cause excessive drowsiness and stomach upset in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. carisoprodolof g pagetitle carisoprodol 03068.TXT Copyright (C) 1993 Publications International, Ltd. cefaclor _________________________ BRAND NAME (Manufacturer) Ceclor (Lilly) TYPE OF DRUG Cephalosporin antibiotic INGREDIENT cefaclor DOSAGE FORMS Capsules (250 mg and 500 mg) Oral suspension (125 mg, 187 mg, 250 mg, and 375 mg per 5-ml spoonful) STORAGE Cefaclor capsules should be stored at room temperature in a tightly closed container. The oral suspension form of this drug should be stored in the refrigerator in a tightly closed container. Any unused portion of the oral suspension should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. This medication is used to treat a wide variety of bacterial infections, including those of the middle ear, skin, upper and lower respiratory tract, and urinary tract. This drug acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Cefaclor kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Cefaclor can be taken either on an empty stomach or with food or milk (in order to avoid an upset stomach). The contents of the suspension form of cefaclor tend to settle on the bottom of the bottle, so it is necessary to shake the container well to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon or with the dropper provided. An ordinary kitchen teaspoon is not accurate enough. Cephalosporin antibiotics work best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take three doses a day, the doses should be spaced eight hours apart. If you miss a dose of this medication, take the missed dose immediately. If you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose halfway through the regular interval between doses; then return to your regular dosing schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking this drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, fatigue, headache, heartburn, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, fever, itching, joint pain, rash, rectal or vaginal itching, severe diarrhea (which can be watery or can contain pus or blood), sore mouth, stomach cramps, tingling in the hands or feet, or unusual bleeding or bruising. Also, if symptoms of infection seem to be getting worse rather than improving, contact your doctor. INTERACTIONS Cefaclor interacts with several other types of medications: 1. Probenecid can increase the blood concentrations and side effects of this medication. 2. The side effects, especially effects on the kidneys, of furosemide, bumetanide, ethacrynic acid, colistin, vancomycin, polymyxin B, and aminoglycoside antibiotics can be increased by cefaclor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medication, especially to cefaclor or other cephalosporin antibiotics (such as cefamandole, cephalexin, cephradine, cefadroxil, cefazolin, cefoperazone, cefotaxime, ceftizoxime, cephalothin, cephapirin, cefuroxime, and moxalactam) or to penicillin antibiotics. * Tell your doctor if you now have or if you have ever had kidney disease. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medication to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics who are taking cefaclor should know that this medication can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking cefaclor, you should switch to Clinistix or Tes-Tape to test your urine sugar content. * Be sure to tell your doctor if you are pregnant. Although the cephalosporin antibiotics appear to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem..3 Ceclor 250 mg,Ceclor 500 mg 0306801.scf,0306802.scf cefaclor logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle cefaclor 03069.TXT Copyright (C) 1993 Publications International, Ltd. cefadroxil _________________________ BRAND NAMES (Manufacturers) cefadroxil (various manufacturers) Duricef (Mead Johnson) Ultracef (Bristol) TYPE OF DRUG Cephalosporin antibiotic INGREDIENT cefadroxil DOSAGE FORMS Tablets (1 g) Capsules (500 mg) Oral suspension (125 mg, 250 mg, and 500 mg per each 5-ml spoonful) STORAGE Cefadroxil tablets and capsules should be stored at room temperature in tightly closed containers. The oral suspension form of this drug should be stored in the refrigerator in a tightly closed container. Any unused portion of the oral suspension should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. This medication is used to treat a wide variety of bacterial infections, including those of the middle ear, skin, upper and lower respiratory tract, and urinary tract. This drug acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Cefadroxil kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT You can take cefadroxil either on an empty stomach or, to avoid stomach upset, with food or milk. The contents of the suspension form of cefadroxil tend to settle on the bottom of the bottle, so it is necessary to shake the container well to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon or with the dropper provided. An ordinary kitchen teaspoon is not accurate enough. Cephalosporin antibiotics work best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. If you miss a dose of this medication, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose halfway through the regular interval between doses; then return to your regular schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking this drug too soon, resistant bacteria could continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, fatigue, headache, heartburn, loss of appetite, nausea, or vomiting. These side effects should disappear as you adjust to the drug. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, fever, itching, joint pain, rash, rectal or vaginal itching, severe diarrhea (which can be watery, or contain pus or blood), sore mouth, stomach cramps, tingling in the hands or feet, or unusual bleeding or bruising. Also, if your symptoms of infection seem to be getting worse rather than improving, contact your doctor. INTERACTIONS Cefadroxil interacts with several other types of medications: 1. Probenecid can increase the blood concentrations and side effects of this medication. 2. The side effects, especially effects on the kidneys, of furosemide, bumetanide, ethacrynic acid, colistin, vancomycin, polymyxin B, and aminoglycoside antibiotics can be increased by cefadroxil. Before you start to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medication, especially to cefadroxil or other cephalosporin antibiotics (such as cefamandole, cephalexin, cefaclor, cephradine, cefazolin, cefoperazone, cefotaxime, ceftizoxime, cephalothin, cephapirin, cefoxitin, cefuroxime, and moxalactam) or to penicillin antibiotics. * Tell your doctor if you have ever had kidney disease. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medication to other people or use it for other infections, unless so directed by your doctor. * Diabetics taking cefadroxil should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem, switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although the cephalosporin antibiotics appear to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Duricef 500 mg,Duricef 1 g,Ultracef 0306901.scf,0306902.scf,0306903.scf cefadroxil' logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle cefadroxil 03070.TXT Copyright (C) 1993 Publications International, Ltd. cefuroxime _________________________ BRAND NAME (Manufacturer) Ceftin (Allen & Hanburys) TYPE OF DRUG Cephalosporin antibiotic INGREDIENT cefuroxime axetil DOSAGE FORM Tablets (125 mg, 250 mg, and 500 mg) STORAGE Cefuroxime tablets should be stored at room temperature in a tightly closed container. This medication is used to treat a wide variety of bacterial infections, including those of the middle ear, upper and lower respiratory tract, skin, and urinary tract. This drug acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Cefuroxime kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Cefuroxime can be taken either on an empty stomach or with food or milk (in order to avoid an upset stomach). The tablets may be crushed and mixed with food (such as applesauce or ice cream); however, a strong, persistent, bitter taste may be noted. Cephalosporin antibiotics work best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. If you miss a dose of this medication, take the missed dose immediately. If you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose halfway through the regular interval between doses; then return to your regular dosing schedule. Try not to skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking this drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, fatigue, headache, heartburn, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, fever, itching, joint pain, rash, rectal or vaginal itching, severe diarrhea, sore mouth, stomach cramps, tingling in the hands or feet, or unusual bleeding or bruising. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Cefuroxime interacts with several other types of medications: 1. Probenecid can increase the blood concentrations and side effects of this medication. 2. The side effects, especially effects on the kidneys, of furosemide, bumetanide, ethacrynic acid, colistin, vancomycin, polymyxin B, and aminoglycoside antibiotics can be increased by cefuroxime. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medication, especially to cefuroxime or other cephalosporin antibiotics (such as cefaclor, cefamandole, cephalexin, cephradine, cefadroxil, cefazolin, cefoperazone, cefotaxime, ceftizoxime, cephalothin, cephapirin, and moxalactam) or to penicillin antibiotics. * Tell your doctor if you now have or if you have ever had kidney disease. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medication to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking cefuroxime should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking cefuroxime, you should switch to Clinistix or Tes-Tape to test your urine sugar content. * Be sure to tell your doctor if you are pregnant. Although the cephalosporin antibiotics appear to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. cefuroximeotic pagetitle cefuroxime 03071.TXT pagetitle cephalexin Copyright (C) 1993 Publications International, Ltd. cephalexin _________________________ BRAND NAMES (Manufacturers) cephalexin monohydrate (various manufacturers) Keflet (Dista) Keflex (Dista) Keftab (Dista) TYPE OF DRUG Cephalosporin antibiotic INGREDIENT cephalexin DOSAGE FORMS Tablets (250 mg, 500 mg, and 1 g) Capsules (250 mg and 500 mg) Oral suspension (125 mg and 250 mg per 5-ml spoonful) Pediatric oral suspension (100 mg per ml) STORAGE Cephalexin tablets and capsules should be stored at room temperature in tightly closed containers. The oral suspension forms of this drug should be stored in the refrigerator in tightly closed containers. Any unused portion of the oral suspension should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. This medication is used to treat a wide variety of bacterial infections, including those of the bones, middle ear, prostate, skin, upper and lower respiratory tract, and urinary tract. This drug acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Cephalexin kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT You can take cephalexin either on an empty stomach or, to avoid stomach upset, with food or milk. The contents of the suspension form of cephalexin tend to settle on the bottom of the bottle, so it is necessary to shake the container well to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon or with the dropper provided. An ordinary kitchen teaspoon is not accurate enough. Cephalosporin antibiotics work best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take your doses of this medication at evenly spaced intervals throughout the day and night. For example, if you are to take four doses of the medication a day, the doses should be spaced six hours apart. If you miss a dose, take the missed dose immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take it; space the following dose halfway through the regular interval between doses; then return to your regular schedule. Do not skip any doses. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms disappear before the end of that period. If you stop taking this drug too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Abdominal pain, diarrhea, dizziness, fatigue, headache, heartburn, loss of appetite, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, fever, itching, joint pain, rash, rectal or vaginal itching, severe diarrhea (which can be watery, or contain pus or blood), sore mouth, stomach cramps, tingling in the hands or feet, or unusual bleeding or bruising. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Cephalexin interacts with several other types of drugs: 1. Probenecid can increase the blood concentrations of this medication. 2. The side effects, especially effects on the kidneys, of furosemide, bumetanide, ethacrynic acid, colistin, vancomycin, polymyxin B, and aminoglycoside antibiotics can be increased by cephalexin. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medication, especially to cephalexin or other cephalosporin antibiotics (such as cefamandole, cephradine, cefaclor, cefadroxil, cefazolin, cefoperazone, cefotaxime, ceftizoxime, cephalothin, cephapirin, cefoxitin, cefuroxime, and moxalactam) or to penicillin antibiotics. * Tell your doctor if you now have or if you have ever had kidney disease. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medication to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking cephalexin should know that this drug can cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking cephalexin, you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although the cephalosporin antibiotics appear to be safe during pregnancy, extensive studies in humans have not been conducted and cautious use is warranted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Keflex 250 mg,Keflex 500 mg 0307101.scf,0307102.scff cephalexin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials 03040.TXT Copyright (C) 1993 Publications International, Ltd. auranofin _________________________ BRAND NAME (Manufacturer) Ridaura (Smith Kline & French) TYPE OF DRUG Antirheumatic INGREDIENT auranofin DOSAGE FORM Capsules (3 mg) STORAGE Auranofin should be stored at room temperature in a tightly closed container. Auranofin is a gold compound used to treat active rheumatoid arthritis. It is unclear how auranofin works to relieve the symptoms of rheumatoid arthritis. TREATMENT Auranofin can be taken either on an empty stomach or with food or milk (as directed by your doctor). It can be taken along with other antirheumatic medications. The full effects of auranofin for the control of arthritis symptoms may not become apparent for several months. It is important to continue taking this medication until your doctor instructs you to do otherwise. Auranofin is generally reserved for arthritis patients who have not responded to or did not tolerate other medications. It should be used in conjunction with, not in place of, a total treatment program, which can include diet, exercise, rest, and heat treatments. If you miss a dose of this drug, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, don't take the missed dose at all; just wait until the next scheduled dose. SIDE EFFECTS Minor. Abdominal cramps, constipation, diarrhea, gas, heartburn, loss of appetite, nausea, or vomiting. As your body adjusts to auranofin, these effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about black or tarry stools, blood in the urine, fever, gingivitis (inflammation of the gums), hair loss, itching, metallic taste, mouth sores, persistent diarrhea, rash, shortness of breath, sore throat, tingling or pain in the fingers or toes, tongue sores, unusual bleeding or bruising, or yellowing of the skin or eyes. INTERACTIONS Auranofin can increase the blood concentration of phenytoin, which can increase the risk of side effects. Before taking auranofin, BE SURE TO TELL YOUR DOCTOR about any medications that you are currently taking. It is especially important to tell your doctor if you are taking phenytoin. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to auranofin or injectable gold compounds (aurothioglucose or gold sodium thioglucose). * Before taking auranofin, be sure to tell your doctor if you now have or if you have ever had blood disorders, bone marrow disease, heart disease, inflammatory bowel disease (ulcerative colitis or Crohn's disease), kidney disease, liver disease, or rash. * Regular blood and urine tests should be performed to assess possible side effects of auranofin. It is important for you to keep all your scheduled appointments. * Tell your doctor if you are pregnant. Complete studies in pregnant women have not yet been performed. However, birth defects have occurred in the offspring of pregnant animals that have been given large doses of auranofin. Also, tell your doctor if you are breast-feeding an infant. It is not yet known if auranofin passes into human breast milk, but it has been shown that this drug passes into the milk of animals. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. auranofin pagetitle auranofin 03041.TXT Copyright (C) 1993 Publications International, Ltd. azatadine _________________________ BRAND NAME (Manufacturer) Optimine (Schering) TYPE OF DRUG Antihistamine INGREDIENT azatadine DOSAGE FORM Tablets (1 mg) STORAGE Store at room temperature in a tightly closed container. This medication belongs to a group of drugs known as antihistamines (antihistamines block the action of histamine, a chemical released by the body during an allergic reaction). It is, therefore, used to treat or prevent symptoms of allergy. TREATMENT To avoid stomach upset, you can take azatadine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). If you miss a dose of this drug, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. SIDE EFFECTS Minor. Confusion; constipation; diarrhea; difficult or painful urination; dizziness; dry mouth, throat, or nose; headache; irritability; loss of appetite; nausea; restlessness; ringing or buzzing in the ears; stomach upset; or unusual increase in sweating. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor tells you not to do so). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Be sure to tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about the following effects: blurred vision, change in menstruation, clumsiness, feeling faint, fever, flushing of the face, hallucinations, palpitations, rash, sleeping disorders, seizures, shortness of breath, sore throat, tightness in the chest, unusual bleeding or bruising, or unusual tiredness. INTERACTIONS Azatadine interacts with other types of medications: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Monoamine oxidase (MAO) inhibitors (isocarboxazid, pargyline, phenelzine, and tranylcypromine) can increase the side effects of this medication. At least 14 days should separate use of this drug and use of an MAO inhibitor. 3. Azatadine can also decrease the activity of oral anticoagulants (blood thinners, such as warfarin). BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to azatadine or any other antihistamine (brompheniramine, carbinoxamine, chlorpheniramine, clemastine, cyproheptadine, dexchlorpheniramine, dimenhydrinate, dimethindene, diphenhydramine, diphenylpyraline, doxylamine, hydroxyzine, promethazine, pyrilamine, trimeprazine, tripelennamine, and triprolidine). * Tell your doctor if you now have or if you have ever had asthma, blood vessel disease, glaucoma, high blood pressure, kidney disease, peptic ulcers, enlarged prostate gland, or thyroid disease. * Azatadine can cause drowsiness or dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous equipment, may be decreased. Appropriate caution should, therefore, be taken. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. Small amounts of azatadine pass into breast milk and may cause unusual excitement or irritability in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem..s Optimine 0304101.scf azatadine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle azatadine 03042.TXT Copyright (C) 1993 Publications International, Ltd. azathioprine _________________________ BRAND NAME (Manufacturer) Imuran (Burroughs Wellcome) TYPE OF DRUG Immunosuppressant INGREDIENT azathioprine DOSAGE FORM Tablets (50 mg) STORAGE Azathioprine should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to prevent rejection of kidney transplants and to control the symptoms of severe rheumatoid arthritis. It is not clear exactly how azathioprine works, but it is known to act on the body's immune system. TREATMENT In order to prevent nausea and vomiting, you can take azathioprine with food or after a meal (unless your doctor directs you to do otherwise). Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next scheduled dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. If you miss more than one dose, CHECK WITH YOUR DOCTOR. SIDE EFFECTS Minor. Diarrhea, nausea, or vomiting. These side effects should disappear over time and as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened urine, fever, hair loss, joint pains, mouth sores, muscle aches, skin rash, sore throat, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS BE SURE TO TELL YOUR DOCTOR if you are already taking allopurinol. This medication can possibly increase the blood levels of azathioprine, which can lead to serious side effects. WARNINGS * Be sure to tell your doctor about any unusual or allergic reactions that you have had to any medications, especially to those you may have experienced after taking azathioprine. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had gout, kidney disease, liver disease, pancreatitis, or recurrent infections. * Azathioprine is potent medicine. Your doctor will want to monitor your therapy carefully with blood tests, so that you take the least amount of the drug possible. * Do not stop taking this medication unless you first check with your doctor. Stopping therapy with this drug abruptly may lead to a worsening of your condition. Your doctor may, therefore, want to start you on another drug before therapy with azathioprine is stopped. * There is a chance that azathioprine may cause unwanted effects months or years later. These delayed effects may include certain types of cancer. Be sure to discuss these possible effects with your doctor. * Azathioprine can increase your susceptibility to infections. It is, therefore, important to contact your doctor at the first sign of infection. Your dose of azathioprine may need to be adjusted. * Be sure to tell your doctor if you are pregnant. Birth defects have been reported in the offspring of animals that received large doses of azathioprine during pregnancy. This drug also has the potential for producing birth defects in human offspring. Use of this drug is not recommended during pregnancy. There is a possibility that birth defects may occur in the offspring if either the male or female is using this drug at the time of conception. Use of birth control is recommended while taking this drug. Also, tell your doctor if you are breast-feeding an infant. It is not known whether azathioprine passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. azathioprine), e pagetitle azathioprine 03043.TXT Copyright (C) 1993 Publications International, Ltd. azithromycin _________________________ BRAND NAME (Manufacturer) Zithromax (Pfizer) TYPE OF DRUG Antibiotic INGREDIENT azithromycin DOSAGE FORM Capsules (250 mg) STORAGE This product should be stored at room temperature in a closed, light-resistant container. Azithromycin is used to treat a wide variety of bacterial infections, including those of the upper and lower respiratory tracts and skin and certain sexually transmitted diseases. This medicine acts by preventing bacteria from manufacturing protein and thereby preventing their growth. Azithromycin kills certain bacteria but is not effective against viruses, parasites, or fungi. TREATMENT It is best to take azithromycin on an empty stomach (one hour before and two hours after a meal). Azithromycin works best when the level of medicine in your bloodstream is kept constant. Therefore, it is best to take the doses at the same time every day. If you miss a dose, take it immediately. However, if you don't remember to take your scheduled dose until the next day, skip the missed dose and go back to your regular dosing schedule. Do not double the next dose. It is important to continue to take this medicine for the entire time period prescribed by the doctor (usually five days), even if the symptoms disappear before the end of that period. If you stop taking this drug too soon, resistant bacteria (bacteria that will not be killed by the antibiotic) are given a chance to continue to grow and infection could recur. SIDE EFFECTS Minor. Diarrhea, nausea, vomiting, headache, dizziness, abdominal pain. These effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about fever, palpitations, rash, shortness of breath, swelling of the face or neck, sore throat, rectal or vaginal itching, unusual bruising or bleeding, or yellowing of the eyes or skin. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Azithromycin interacts with several medications: 1. Azithromycin potentially can increase blood levels of aminophylline, theophylline, carbamazepine, cyclosporin, phenytoin, digoxin, triazolam, phenobarbital, ergotamine, dihydroergotamine, or oral anticoagulants (blood thinners, such as warfarin); this may lead to serious side effects. 2. Antacids containing aluminum and magnesium will decrease the efficacy of azithromycin. Take antacids one hour before, or two hours after your dose of azithromycin. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about any unusual reactions you have to any medications, especially to azithromycin, erythromycin, or clarithromycin. * Tell you doctor if you have or ever had kidney disease, liver disease, or heart disease. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medication to other people or use it for other infections, unless your doctor specifically directs you to do so. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist you are taking azithromycin. * Be sure to tell your doctor if you are pregnant. The effects of this medicine during pregnancy have not been thoroughly studied in humans. Also, tell your doctor if you are breast-feeding an infant. It is not known if azithromycin passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. azithromycinse t pagetitle azithromycin 03044.TXT Copyright (C) 1993 Publications International, Ltd. baclofen _________________________ BRAND NAME (Manufacturer) Lioresal (Geigy) TYPE OF DRUG Muscle relaxant INGREDIENT baclofen DOSAGE FORM Tablets (10 mg and 20 mg) STORAGE Baclofen should be stored at room temperature in a tightly closed container. This medication is used to relieve muscle spasms. It is unclear exactly how baclofen works to relieve spasticity, but it is known that the drug acts on the central nervous system (brain and spinal cord). TREATMENT Baclofen can be taken either on an empty stomach or with food or a full glass of milk or water. If you miss a dose of this medication and remember within an hour, take the missed dose immediately. If more than an hour has passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, constipation, diarrhea, dizziness, drowsiness, dry mouth, fatigue, headache, insomnia, loss of appetite, nasal congestion, vomiting, or weight gain. These side effects should disappear as your body adjusts to the medication. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or lying position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum or suck on ice chips or a piece of hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, confusion, convulsions, depression, fainting, false sense of well-being, hallucinations, muscle pain, palpitations, ringing in the ears, slurred speech, tremors, or visual disturbances. INTERACTIONS Concurrent use of baclofen with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medicines) or with tricyclic antidepressants can lead to extreme drowsiness. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Be sure to tell your doctor about any unusual or allergic reactions you have had to any drugs, especially to baclofen. * Before starting to take baclofen, be sure to tell your doctor if you now have or if you have ever had diabetes mellitus, epilepsy, kidney disease, mental disorders, or a stroke. * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires alertness, such as driving a car. * Do not stop taking this medication unless you have first checked with your doctor. Stopping therapy with this medication abruptly can lead to hallucinations, nervousness, convulsions, and mood changes. Your doctor may, therefore, want to reduce your dosage of this medication gradually. * Be sure to tell your doctor if you are pregnant. Although baclofen appears to be safe in humans, birth defects have been reported in the offspring of animals that received large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether baclofen passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. baclofen do pagetitle baclofen 03045.TXT Copyright (C) 1993 Publications International, Ltd. bendroflumethiazide _________________________ BRAND NAME (Manufacturer) Naturetin (Princeton) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT bendroflumethiazide DOSAGE FORM Tablets (5 mg and 10 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Bendroflumethiazide is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. This medication reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. TREATMENT To decrease stomach irritation, you can take this medication with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 P.M.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or upset stomach. As your body adjusts to the medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, itching, joint pain, mood changes, muscle pain or spasms, nausea, palpitations, skin rash, sore throat, tingling in the fingers or toes, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS This drug interacts with several other drugs: 1. It may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 2. Fenfluramine can increase the blood-pressure-lowering effects of bendroflumethiazide (which can be dangerous). 3. Indomethacin can decrease the blood-pressure-lowering effects of bendroflumethiazide, thereby counteracting the desired effects. 4. Cholestyramine and colestipol decrease the absorption of this medication from the gastrointestinal tract. Bendroflumethiazide should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications). 5. The side effects of amphotericin B, calcium, cortisone-like steroids (such as cortisone, dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D may be increased by bendroflumethiazide. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to diuretics or any other sulfa drugs, including oral antidiabetic medications or sulfonamide antibiotics. * Before you start taking bendroflumethiazide, tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreatic disease, or systemic lupus erythematosus. * Bendroflumethiazide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help avoid potassium loss, take this drug with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or use a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. Your doctor may want you to have blood tests performed periodically in order to monitor your potassium levels. * Limit your intake of alcoholic beverages while taking this medication, in order to prevent dizziness and light-headedness. * If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, cough, cold, or sinus problems unless your doctor directs you to do so. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar in diabetic patients. Therefore, blood sugar levels should be carefully monitored by blood or urine tests when this medication is being taken. * This product contains the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (rash, fainting, difficulty in breathing) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Bendroflumethiazide can cross the placenta and may cause adverse effects in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of this drug can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. bendroflumethiazide pagetitle bendroflumethiazide 03046.TXT Copyright (C) 1993 Publications International, Ltd. benzthiazide _________________________ BRAND NAMES (Manufacturers) benzthiazide (various manufacturers) Exna (Robins) Hydrex (Trimen) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT benzthiazide DOSAGE FORM Tablets (50 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Benzthiazide is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. This medication reduces fluid accumulation by increasing the elimination of sodium and water through the kidneys. TREATMENT To decrease stomach irritation, you can take this medication with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 P.M.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the next dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or upset stomach. These side effects should disappear as your body adjusts to the medication. This medication can cause increased sensitivity to sunlight. It is, therefore, important to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain cereals and breads) and exercise (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, itching, joint pain, mood changes, muscle pain or spasms, nausea, palpitations, skin rash, sore throat, tingling in the fingers or toes, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS Benzthiazide interacts with several other types of medications: 1. It may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 2. Fenfluramine can increase the blood-pressure-lowering effects of benzthiazide, which can be dangerous. 3. Indomethacin can decrease the blood-pressure-lowering effects of benzthiazide, thereby counteracting the desired effects. 4. Cholestyramine and colestipol decrease the absorption of this medication from the gastrointestinal tract. Benzthiazide should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications). 5. The side effects of amphotericin B, calcium, cortisone-like steroids (such as cortisone, dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D may be increased by benzthiazide. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to diuretics or any other sulfa drugs, including oral antidiabetic medications or sulfonamide antibiotics. * Before you start taking benzthiazide, tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreatic disease, or systemic lupus erythematosus. * Benzthiazide can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help avoid potassium loss, take this drug with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet or take a salt substitute, however, before discussing it with your doctor. Too much potassium can also be dangerous. Your doctor may want to have blood tests performed periodically in order to monitor your potassium levels. * Limit your intake of alcoholic beverages while taking this medication, in order to prevent dizziness and light-headedness. If you have high blood pressure, do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, cough, cold, or sinus problems unless your doctor directs you to do so. * To prevent dehydration (severe water loss) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar in diabetic patients. Therefore, blood sugar levels should be carefully monitored by blood or urine tests when this medication is being taken. Some of these products contain the color additive FD&C Yellow No. 5 (tartrazine), which can cause allergic-type reactions (wheezing, rash, fainting, difficulty in breathing) in certain susceptible individuals. * Be sure to tell your doctor if you are pregnant. Benzthiazide can cross the placenta and may cause adverse effects in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of this drug can pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. benzthiazideNAME pagetitle benzthiazide 03047.TXT Copyright (C) 1993 Publications International, Ltd. benztropine _________________________ BRAND NAMES (Manufacturers) benztropine (various manufacturers) Cogentin (Merck Sharp & Dohme) TYPE OF DRUG Anticholinergic and antiparkinsonism agent INGREDIENT benztropine DOSAGE FORM Tablets (0.5 mg, 1 mg, and 2 mg) STORAGE Benztropine tablets should be stored at room temperature in a tightly closed container. Benztropine is used to treat the symptoms of Parkinson's disease or to control the side effects of phenothiazine tranquilizers. It is not understood how this medication works, but it may act by balancing certain chemicals in the brain. TREATMENT In order to reduce stomach irritation, you can take benztropine tablets with food or just after a meal. Antacids and antidiarrheal medicines prevent the absorption of this medication, so at least one hour should separate doses of benztropine and one of these medicines. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is within two hours of your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Bloating; blurred vision; constipation; dizziness; drowsiness; dry mouth, throat, and nose; false sense of well-being; headache; increased sensitivity of the eyes to light; muscle cramps; nausea; nervousness; reduced sweating; or weakness. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. Wear sunglasses if your eyes become sensitive to light. To avoid dizziness and light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about depression, difficulty sleeping, difficulty in urinating, hallucinations, involuntary muscle movements, loss of balance, memory loss, mood changes, numbness of the fingers, palpitations, or unusual excitement. Some side effects may occur for a short time after discontinuing this drug. Consult your doctor if they become bothersome. INTERACTIONS Benztropine can interact with several other types of medications: 1. It can cause extreme drowsiness when combined with alcohol or other central nervous system depressants (such as antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications) or with tricyclic antidepressants. 2. Amantadine, antihistamines, haloperidol, monoamine oxidase (MAO) inhibitors, phenothiazine tranquilizers, procainamide, quinidine, and tricyclic antidepressants can increase the side effects of benztropine. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications, especially to benztropine. * Tell your doctor if you now have or if you have ever had achalasia, glaucoma, heart disease, high blood pressure, kidney disease, liver disease, myasthenia gravis, blockage of the intestinal tract or urinary tract, enlarged prostate gland, stomach ulcers, or thyroid disease. * If this drug makes you dizzy or drowsy, be sure to avoid any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Be careful on stairs, and avoid getting up suddenly from a lying or sitting position. * This medication can decrease sweating and heat release from the body. You should, therefore, avoid getting overheated by strenuous exercise in hot weather and should avoid taking hot baths, showers, and saunas. * Elderly patients are more sensitive to the effects of benztropine. Contact your doctor if confusion, disorientation, agitation, or hallucinations occur. * Be sure to tell your doctor if you are pregnant. Extensive studies of the use of benztropine during pregnancy have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Cogentin 0304701.scf benztropine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle benztropine 03048.TXT !m!Copyright (C) 1993 Publications International, Ltd. betamethasone (systemic) _________________________ BRAND NAME (Manufacturer) Celestone (Schering) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT betamethasone DOSAGE FORMS Tablets (0.6 mg) Oral syrup (0.6 mg per 5-ml spoonful, with less than 1% alcohol) STORAGE Betamethasone should be stored at room temperature in a tightly closed container. Carefully dispose of any outdated medication or any medication that is no longer necessary. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Betamethasone belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to treat a variety of disorders, including endocrine and rheumatic disorders; asthma; blood diseases; certain cancers; eye disorders; gastrointestinal disturbances, such as ulcerative colitis; respiratory diseases; and inflammations such as arthritis, dermatitis, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT In order to prevent stomach irritation, you can take betamethasone with food or milk. The oral syrup form of this medication should be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you are taking only one dose of this medication each day, try to take it before 9:00 A.M. This will mimic the body's normal production of this type of chemical. It is important to try not to miss any doses of betamethasone. However, if you do miss a dose of this medication, follow these guidelines: 1. If you are taking it more than once a day, take the missed dose as soon as possible, and return to your regular schedule. If it is already time for the next dose, double the dose. 2. If you are taking this medication once a day, take the dose you missed as soon as possible, unless you don't remember until the next day. In that case, do not take the missed dose at all; just follow your regular schedule. Do not double the next dose. 3. If you are taking this drug every other day, take it as soon as you remember. If you missed the scheduled time by a whole day, take it when you remember; then skip a day before you take the next dose. Do not double the dose. If you miss more than one dose of betamethasone, CONTACT YOUR DOCTOR. SIDE EFFECTS Minor. Dizziness, false sense of well-being, increased appetite, increased susceptibility to infections, increased sweating, indigestion, menstrual irregularities, muscle weakness, nausea, reddening of the skin on the face, restlessness, sleep disorders, or weight gain. These effects should disappear as you adjust to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about abdominal enlargement; acne or other skin problems; back or rib pain; bloody or black, tarry stools; blurred vision; convulsions; fever and sore throat; glaucoma; growth impairment (in children); headaches; impaired healing of wounds; increased thirst and urination; menstrual irregularities; mental depression; mood changes; muscle wasting; nightmares; peptic ulcers; puffiness of the face; rapid weight gain (three to five pounds within a week); rash; shortness of breath; thinning of the skin; unusual bleeding or bruising; or unusual weakness. INTERACTIONS Betamethasone interacts with several other types of drugs: 1. Alcohol, aspirin, and anti-inflammatory medications (diflunisal, ibuprofen, indomethacin, ketoprofen, mefenamic acid, meclofenamate, naproxen, piroxicam, sulindac, tolmetin) aggravate the stomach problems that are common with use of this medication. 2. The dosage of oral anticoagulants (blood thinners, such as warfarin), oral antidiabetic drugs, or insulin may need to be altered when this medication is started or stopped. 3. The loss of potassium caused by betamethasone can lead to serious side effects in individuals taking digoxin. Thiazide diuretics (water pills) can increase the potassium loss caused by betamethasone. 4. Phenobarbital, phenytoin, rifampin, and ephedrine can increase the elimination of betamethasone from the body, thereby decreasing its effectiveness. 5. Oral contraceptives (birth control pills) and estrogen-containing drugs may decrease the elimination of this drug from the body, which can lead to an increase in side effects. 6. Betamethasone can increase the elimination of aspirin and isoniazid, thereby decreasing the effectiveness of these two medications. 7. Cholestyramine and colestipol can chemically bind this medication in the stomach and gastrointestinal tract and prevent its absorption. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to betamethasone or other adrenocorticosteroids (such as cortisone, dexamethasone, hydrocortisone, methylprednisolone, paramethasone, prednisolone, prednisone, and triamcinolone). * Be sure to tell your doctor if you now have or if you have ever had bone disease, diabetes mellitus, emotional instability, glaucoma, fungal infections, heart disease, high blood pressure, high cholesterol levels, myasthenia gravis, peptic ulcers, osteoporosis, thyroid disease, tuberculosis, ulcerative colitis, kidney disease, or liver disease. * To help avoid potassium loss while using this drug, take your dose with a glass of fresh or frozen orange juice, or eat a banana each day. The use of a salt substitute also helps to prevent potassium loss. Discuss this with your doctor. * If you are using this medication for longer than a week, you may need to receive higher dosages if you are subjected to stress, such as serious infections, injury, or surgery. Discuss this with your doctor. * If you have been taking this drug for more than a week, do not stop taking it suddenly. If it is stopped suddenly, you may experience abdominal or back pain, dizziness, fainting, fever, muscle or joint pain, nausea, vomiting, shortness of breath, or extreme weakness. Your doctor may, therefore, want to reduce the dosage gradually. Never increase the dose or take the drug for longer than the prescribed time, unless you first consult your doctor. * While you are taking this drug, you should not be vaccinated or immunized. This medication decreases the effectiveness of vaccines and can lead to overwhelming infection if a live-virus vaccine is administered. * Before having skin tests, surgery, or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking betamethasone. * Because this drug can cause glaucoma and cataracts with long-term use, your doctor may want you to have your eyes examined by an ophthalmologist periodically during treatment. If you are taking this medication for prolonged periods, you should wear or carry an identification card or notice stating that you are taking an adrenocorticosteroid. * This medication can raise blood sugar levels in diabetic patients. Blood sugar should, therefore, be monitored carefully with blood tests when this medication is being taken. If you notice a change in your blood sugar levels, contact your doctor. * Be sure to tell your doctor if you are pregnant. This type of drug crosses the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this type of drug pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. betamethasone (systemic)Carb "pagetitle betamethasone (systemic) 03049.TXT Copyright (C) 1993 Publications International, Ltd. betamethasone dipropionate (topical) _________________________ BRAND NAMES (Manufacturers) Alphatrex (Savage) betamethasone dipropionate (various manufacturers) Diprolene (Schering) Diprosone (Schering) Maxivate (Westwood) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT betamethasone DOSAGE FORMS Ointment (0.05%) Cream (0.05%) Lotion (0.05%) Aerosol (0.1%) STORAGE Betamethasone dipropionate ointment, cream, and lotion should be stored at room temperature in tightly closed containers. This medication should never be frozen. The aerosol form of this medication is packaged under pressure. It should not be stored near heat or an open flame or in direct sunlight, and the container should never be punctured. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Betamethasone dipropionate belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve the skin inflammation (redness, swelling, itching, and discomfort) associated with conditions such as dermatitis, eczema, and poison ivy. How betamethasone dipropionate acts to relieve these disorders is not completely understood. TREATMENT Before applying this medication, wash your hands. Then, unless your doctor gives you different instructions, gently wash the area of the skin where the medication is to be applied. With a clean towel, pat the area almost dry; it should be slightly damp when you put the medicine on. If you are using the lotion form of this medication, shake it well before pouring it out. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Apply a small amount of the medication to the affected area in a thin layer. Do not bandage the area unless your doctor tells you to do so. If you are to apply an occlusive dressing (like kitchen plastic wrap), be sure you understand the instructions. Wash your hands again after application. Shake the aerosol spray form of this medication in order to disperse the medication evenly. Hold the can upright, six to eight inches from the area to be sprayed, and spray the area for one to three seconds. DO NOT SMOKE while you are using the aerosol spray; the contents are under pressure and may explode when exposed to heat or flames. Avoid applying this medication to areas with cuts or open wounds. If you miss a dose of this medication, apply the dose as soon as possible, unless it is almost time for the next application. In that case, do not apply the missed dose; just return to your regular schedule. Do not put twice as much of the medication on your skin at the next application. SIDE EFFECTS Minor. Acne, burning sensation, itching, skin dryness, or rash. If the affected area is extremely dry or scaling, the skin may be moistened before applying the medication by soaking in water or by applying water with a clean cloth. The ointment form is probably better for dry skin. A mild, temporary stinging sensation may occur after this medication is applied. If this persists, contact your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, irritation of the affected area, loss of skin color, secondary infection in the area being treated, or thinning of the skin with easy bruising. INTERACTIONS This medication should not interact with any other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to betamethasone dipropionate or any other adrenocorticosteroid (such as amcinonide, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, flurandrenolide, halcinonide, hydrocortisone, methylprednisolone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had blood vessel disease, chicken pox, diabetes mellitus, fungal infection, peptic ulcer, shingles, tuberculosis, tuberculosis of the skin, vaccinia, or any other type of infection, especially at the site currently being treated. * If irritation develops while using this drug, immediately discontinue its use and notify your doctor. * This product is not for use in the eyes or on mucous membranes; contact may result in side effects. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of this drug is increased if extensive areas of the body are treated, particularly if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctor's instructions exactly; do not leave the wrap in place longer than specified. * If you are using this medication on a child's diaper area, do not put tight-fitting diapers or plastic pants on the child. This may lead to increased systemic absorption of the drug and a possible increase in side effects. * Elderly patients and younger children have naturally thinner skin, and, therefore, betamethasone dipropionate is more likely to be absorbed. Be sure to report any adverse effects to your doctor. * In order to avoid freezing skin tissue when using the aerosol form of betamethasone dipropionate, make sure that you do not spray for more than three seconds, and hold the container at least six inches from the skin. * When using the aerosol form of this medication on the face, cover your eyes and do not inhale the spray. * Use this medication only for your current condition. Do not use it for another problem later or give it to other people to use. * Tell your doctor if you are pregnant. If large amounts of this drug are applied for prolonged periods, some of it may cross the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large oral doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the skin small amounts of the drug may pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. betamethasone dipropionate (topical)th l pagetitle betamethasone dipropionate (topical) 03050.TXT Copyright (C) 1993 Publications International, Ltd. betamethasone dipropionate and clotrimazole combination (topical) _________________________ BRAND NAME (Manufacturer) Lotrisone (Schering) TYPE OF DRUG Adrenocorticosteroid hormone and antifungal INGREDIENTS betamethasone dipropionate and clotrimazole DOSAGE FORM Topical cream (0.05% betamethasone dipropionate and 1% clotrimazole) STORAGE This medication should be stored at room temperature (never frozen) in a tightly closed container. Discard any outdated or unneeded medication. Betamethasone dipropionate and clotrimazole combination is used to treat fungal infections of the skin. Clotrimazole is an antifungal agent that prevents the growth and multiplication of a wide range of fungi and yeast, including Candida. Betamethasone dipropionate belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body. Betamethasone dipropionate is added to this combination to relieve skin inflammation (redness, swelling, itching, and discomfort). TREATMENT Before applying betamethasone dipropionate and clotrimazole combination, you should wash your hands. Then, unless your doctor tells you to do otherwise, cleanse the affected area with soap and water. Pat the skin with a clean towel until it is almost dry. Gently massage a small amount of the cream over the entire area that is affected and the skin immediately surrounding this area. Avoid applying the medication to areas with cuts or open wounds. Don't bandage or cover the area after applying the medication, unless your doctor instructs you to do so. Wash your hands again after application. Improvement in your condition may not become apparent for as long as a week after you begin treatment with this drug. However, you should be sure to complete the full course of medication. If you stop using this drug too soon, resistant fungi are given a chance to continue growing, and the infection could recur. If your condition has not improved after four weeks, CONTACT YOUR DOCTOR. Clotrimazole may not be effective against the organism causing your infection. If you miss a dose of this drug, apply the dose as soon as possible, unless it is almost time for the next application. In that case, do not apply the missed dose; just return to your regular schedule. Do not put twice as much of the drug on your skin at the next application. SIDE EFFECTS Minor. Acne and burning sensation. You may also experience some burning, itching, redness, or stinging when this drug is applied to the skin. These side effects should disappear as your body adjusts to this medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, irritation, loss of skin color, peeling of the skin, swelling, or thinning of the skin with easy bruising. INTERACTIONS Betamethasone dipropionate and clotrimazole combination should not interact with other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to betamethasone dipropionate or other adrenocorticosteroids (amcinonide, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, flurandrenolide, halcinonide, hydrocortisone, methylprednisolone, prednisolone, prednisone, and triamcinolone) or to clotrimazole. * Tell your doctor if you now have or if you have ever had blood vessel disease, chicken pox, diabetes mellitus, fungal infection, peptic ulcers, pulmonary tuberculosis, shingles, tuberculosis of the skin, vaccinia, or any other type of infection, especially at the site being treated. * If irritation develops while using this drug, immediately discontinue its use and notify your doctor. * This product is not for use in the eyes or on mucous membranes; contact may result in side effects. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of this drug is increased if extensive areas of the body are treated, particularly if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctor's instructions exactly; do not leave the wrap in place longer than specified. * If you are using this medication on a child's diaper area, do not put tight-fitting diapers or plastic pants on the child. This may lead to increased systemic absorption of the drug and a possible increase in side effects. * Elderly patients and younger children have naturally thinner skin, and, therefore, the drug is more likely to be absorbed. Report any adverse effects to your doctor. * This medication has been prescribed for your current infection only. A subsequent infection, or one that someone else has, may require a different medication. Therefore, you should not give your medicine to other people or use it for other infections, unless directed to do so by your doctor. * In order to avoid reinfection, keep the affected area clean and dry, wear freshly laundered clothing, and avoid wearing tight-fitting clothes. * Be sure to tell your doctor if you are pregnant. If large amounts of this drug are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large oral doses of adrenocorticosteroids during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this type of drug may pass into breast milk and cause growth suppression or a decrease in adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. betamethasone dipropionate and clotrimazole combi...ion (topical) pagetitle betamethasone dipropionate and clotrimazole combination (topical) 03051.TXT Copyright (C) 1993 Publications International, Ltd. betamethasone valerate (topical) _________________________ BRAND NAMES (Manufacturers) betamethasone valerate (various manufacturers) Betatrex (Savage) Beta-Val (Lemmon) Valisone (Schering) Valisone Reduced Strength (Schering) TYPE OF DRUG Adrenocorticosteroid hormone INGREDIENT betamethasone DOSAGE FORMS Cream (0.01% and 0.1%) Ointment (0.1%) Lotion (0.1%) STORAGE This medication should be stored at room temperature (never frozen) in a tightly closed container. Your adrenal glands naturally produce certain cortisone-like chemicals. These chemicals are involved in various regulatory processes in the body (such as those involving fluid balance, temperature, and reaction to inflammation). Betamethasone valerate belongs to a group of drugs known as adrenocorticosteroids (or cortisone-like medications). It is used to relieve the skin inflammation (redness, swelling, itching, and discomfort) associated with conditions such as dermatitis, eczema, and poison ivy. How this drug acts to relieve these disorders is not completely understood. TREATMENT Before applying this medication, wash your hands. Then, unless your doctor gives you different instructions, gently wash the area of the skin where the medication is to be applied. With a clean towel, pat the area almost dry; it should be slightly damp when you put the medicine on. If you are using the lotion form of this drug, shake it well before pouring out the medicine to distribute the ingredients evenly and equalize the doses. Apply a small amount of the medication to the affected area in a thin layer. Avoid applying medication to cuts or open wounds. Do not bandage the area unless your doctor tells you to do so. If you are to apply an occlusive dressing (like kitchen plastic wrap), be sure you understand the instructions. Wash your hands again after application. If you miss a dose of this medication, apply the dose as soon as possible, unless it is almost time for the next application. In that case, do not apply the missed dose; just return to your regular dosing schedule. Do not put twice as much on your skin at the next application. SIDE EFFECTS Minor. Acne, burning sensation, itching, rash, or skin dryness. If the affected area is extremely dry or scaling, the skin may be moistened before applying the medication by soaking in water or by applying water with a clean cloth. The ointment form is probably better for dry skin. A mild, temporary stinging sensation may occur after this medication is applied. If this persists, contact your doctor. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blistering, increased hair growth, irritation of the affected area, loss of skin color, secondary infection of the area being treated, or thinning of the skin with easy bruising. INTERACTIONS This medication should not interact with any other medications as long as it is used according to directions. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to betamethasone valerate or other adrenocorticosteroids (such as amcinonide, clocortolone, cortisone, desonide, desoximetasone, dexamethasone, diflorasone, flumethasone, fluocinolone, fluocinonide, fluorometholone, flurandrenolide, halcinonide, hydrocortisone, methylprednisolone, prednisolone, prednisone, and triamcinolone). * Tell your doctor if you now have or if you have ever had blood vessel disease, chicken pox, diabetes mellitus, fungal infection, peptic ulcers, shingles, tuberculosis, tuberculosis of the skin, vaccinia, or any other type of infection, especially at the site currently being treated. * If irritation develops while using this drug, immediately discontinue its use and notify your doctor. * This product is not for use in the eyes or on mucous membranes; contact may result in side effects. * Use this drug only for your current condition. Do not use it for another problem or give it to others to use. * Do not use this product with an occlusive wrap unless your doctor directs you to do so. Systemic absorption of this drug is increased if extensive areas of the body are treated, particularly if occlusive bandages are used. If it is necessary for you to use this drug under a wrap, follow your doctor's instructions exactly. * If you are using this medication on a child's diaper area, do not put tight-fitting diapers or plastic pants on the child. This may lead to increased systemic absorption of the drug and a possible increase in side effects. * Elderly patients and younger children have naturally thinner skin, and, therefore, the drug is more likely to be absorbed. Report any adverse effects. * Be sure to tell your doctor if you are pregnant. If large amounts of this drug are applied for prolonged periods, some of it will be absorbed and may cross the placenta. Although studies in humans have not been conducted, birth defects have been observed in the offspring of animals that were given large oral doses of this type of drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. If absorbed through the skin, small amounts of this type of drug pass into breast milk and may cause growth suppression or a decrease in natural adrenocorticosteroid production in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. betamethasone valerate (topical)s ofM pagetitle betamethasone valerate (topical) 03052.TXT Copyright (C) 1993 Publications International, Ltd. betaxolol (ophthalmic) _________________________ BRAND NAMES (Manufacturers) Betoptic (Alcon) Betoptic S (Alcon) TYPE OF DRUG Antiglaucoma ophthalmic solution INGREDIENT betaxolol DOSAGE FORM Ophthalmic drops (0.25% and 0.5% betaxolol) STORAGE Store at room temperature in a tightly closed container. Discard any outdated medication. Betaxolol is used to reduce pressure in the eye caused by glaucoma or other eye conditions. This medication belongs to a group of drugs known as beta blockers. When applied to the eye, betaxolol reduces pressure within the eye, perhaps by decreasing eye fluid (aqueous humor) production and by increasing the outflow of fluid from the eye. TREATMENT Wash your hands with soap and water before applying this drug. To avoid contamination of the drops, do not touch the tube portion of the dropper or let it touch your eye; do not wipe off or rinse the dropper after use. To apply the drops, tilt your head back and pull down your lower eyelid with one hand to make a pouch below the eye. Drop the prescribed amount of medicine into this pouch and slowly close your eyes. Try not to blink. Keep your eyes closed, and place one finger at the corner of the eye next to your nose for a minute or two, applying slight pressure (this is done to prevent loss of medication into the nose and throat canal). Then wipe away any excess with a clean tissue. Since administering the drug is somewhat difficult, you may want to have someone else apply the drops for you. If you miss a dose of this medication, apply the missed dose as soon as possible, then return to your regular dosing schedule. However, if it is almost time for the next dose, skip the dose you missed. Do not double the next dose. SIDE EFFECTS Minor. When you first apply this medication, it may sting or burn your eyes. This should stop in a few minutes. You may also notice sensitivity of your eyes to bright lights or sunlight. Wearing sunglasses and avoiding excessive exposure to sunlight may help relieve this sensitivity. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about hives, irritation of the eye that lasts more than a few minutes after application, itching, or skin rash. Major side effects are rare when this product is used correctly. However, depression, fluid accumulation, insomnia, shortness of breath, or swelling of the feet may occur with this drug. If you have any of these symptoms, contact your doctor. INTERACTIONS Betaxolol may increase the side effects of reserpine and oral beta blockers. TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to betaxolol or to any other beta blocker (acebutolol, atenolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, and timolol). * Be sure to tell your doctor if you now have or if you have ever had asthma, diabetes mellitus, heart failure, lung disease, slow or abnormal heartbeat, or thyroid disease. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking this medication. Your doctor or dentist may want to gradually withdraw this medication prior to the procedure. * Be sure to tell your doctor if you are pregnant. Although betaxolol appears to be safe in animals, studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of betaxolol will pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. betaxolol (ophthalmic)eciaC pagetitle betaxolol (ophthalmic) 03053.TXT Copyright (C) 1993 Publications International, Ltd. betaxolol (systemic) _________________________ BRAND NAME (Manufacturer) Kerlone (Searle) TYPE OF DRUG Beta-adrenergic blocking agent INGREDIENT betaxolol DOSAGE FORM Tablets (10 mg and 20 mg) STORAGE Betaxolol should be stored at room temperature in a tightly closed container. Betaxolol is prescribed for the treatment of high blood pressure. Betaxolol belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. These drugs work by controlling impulses along certain nerve pathways. This results in a decreased workload for the heart. TREATMENT Betaxolol can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach, depending on your doctor's instructions. It is important that you try to take the medication at the same time(s) each day. Try not to miss any doses of this medication. If you do miss a dose of the medication, take the missed dose as soon as possible. However, if the next scheduled dose is within eight hours (if you are taking this medication only once a day) or within four hours (if you are taking this medication more than once a day), do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of the medication. It is important to remember that betaxolol does not cure high blood pressure. SIDE EFFECTS Minor. Decreased sexual ability, diarrhea, fatigue, headache, indigestion, or nausea. These side effects should diminish as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breathing difficulty or wheezing; cold hands or feet due to decreased blood circulation to the skin, fingers, and toes; confusion; dizziness; fever and sore throat; hair loss; hallucinations; light-headedness; mental depression; nightmares; reduced alertness; skin rash; swelling of the ankles, feet, or lower legs; or unusual bleeding or bruising. INTERACTIONS Betaxolol interacts with a number of other medications: 1. Indomethacin, other nonsteroidal anti-inflammatory agents, aspirin, or other salicylates may decrease the blood-pressure-lowering effects of beta blockers. 2. Calcium channel blockers (nifedipine, verapamil, and diltiazem) may be used with beta blockers such as betaxolol unless the patient has heart trouble. Very low blood pressure and heart failure have been observed in patients with impaired heart function who take beta blockers. 3. Side effects may also be increased if beta blockers are taken with epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, reserpine, clonidine, prazosin, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of a beta blocker and the use of an MAO inhibitor. 4. Beta blockers may antagonize (work against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 5. Beta blockers can also interact with insulin or oral antidiabetic agents--raising or lowering blood sugar levels or masking symptoms of low blood sugar. 6. The action of beta blockers may be increased if they are used with furosemide or hydralazine, which could have a negative effect. 7. Alcohol, barbiturates, and rifampin can decrease blood concentrations of this drug, which can result in a decrease in effectiveness. 8. If you are on both betaxolol and clonidine, and both of these medications are to be discontinued, it is recommended that the betaxolol be tapered off over several days before the gradual reduction of clonidine. 9. In patients who have congestive heart failure treated with digitalis glycosides (for example, digoxin or digitoxin), caution should be used as both betaxolol and digitalis products may slow heart conduction. Before starting to take betaxolol, BE SURE TO TELL YOUR DOCTOR about any medications you are already taking, especially any of the medications listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to any medications, especially to betaxolol or any other beta blocker (acebutolol, atenolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, and timolol). * Tell your doctor if you now have or if you have ever had asthma, bronchitis, diabetes mellitus, heart block, heart failure, kidney disease, liver disease, peripheral vascular disease (poor circulation in the fingers or toes), severe bradycardia (slowed heart rate), or thyroid disease. * Betaxolol therapy may increase the risk of cardiac failure in some patients. Report any abnormal heart function to your doctor. * Patients with severe bronchospastic disease (such as asthma) should, in general, not receive beta blockers. Inform your physician if you experience breathing difficulties. * In diabetics, betaxolol may block some of the warning signs of low blood sugar (hypoglycemia), such as rapid pulse rate, but not others, such as dizziness or sweating. * You may want to check your pulse while taking this drug. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse that is too slow may cause circulation problems. * This medication may affect your body's response to exercise. Ask your doctor what an appropriate amount of exercise would be for you. * It is important that you do not stop taking this drug, without first checking with your doctor. Some conditions such as angina pectoris may become worse when the drug is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may want you to gradually reduce the amount of the drug you take before stopping completely. Make sure that you have enough medication on hand to last through vacations, and holidays. * Tell your doctor or dentist that you are taking this drug before having surgery or any other medical or dental treatment. Often, this medication will be discontinued 48 hours prior to any major surgery. * While taking this drug, do not use any over-the-counter (nonprescription) allergy, asthma, cough, cold, sinus, or diet preparations without first checking with your doctor or pharmacist. The combination of these medications with a beta blocker can result in high blood pressure. * Betaxolol may reduce intraocular pressure and give a misleading negative glaucoma test. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. Adequate studies have not been conducted in humans, but there has been some association between beta blockers used during pregnancy and low birth weight, breathing problems, and slow heart rate in the newborn. Also, tell your doctor if you are breast-feeding an infant. Although this medication has not been shown to cause problems in breast-fed infants, it may pass into breast milk, so caution is warranted. * The safety of this medication has not been established in children. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. betaxolol (systemic) pagetitle betaxolol (systemic) 03054.TXT Copyright (C) 1993 Publications International, Ltd. bethanechol _________________________ BRAND NAMES (Manufacturers) bethanechol chloride (various manufacturers) Duvoid (Roberts) Myotonachol (Glenwood) Urabeth (Major) Urecholine (Merck Sharp & Dohme) TYPE OF DRUG Cholinergic INGREDIENT bethanechol DOSAGE FORM Tablets (5 mg, 10 mg, 25 mg, and 50 mg) STORAGE Bethanechol should be stored at room temperature in a tightly closed container. Bethanechol is used to relieve retention of urine in the bladder. It acts on the nerves of the bladder to cause emptying. TREATMENT Bethanechol should be taken on an empty stomach one hour before or two hours after a meal. If it is taken soon after eating, nausea and vomiting may occur. If you miss a dose and remember within an hour, take the missed dose immediately. If more than an hour has passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal cramps, belching, diarrhea, dizziness, excessive salivation, flushing of the skin, headache, nausea, sweating, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, feeling faint, or shortness of breath. INTERACTIONS Bethanechol interacts with several other types of drugs: 1. Procainamide and quinidine can decrease the therapeutic effects of bethanechol. 2. Concurrent use of bethanechol and mecamylamine or trimethaphan can lead to a serious drop in blood pressure. Before starting to take bethanechol, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to bethanechol. * Before starting to take this medication, be sure to tell your doctor if you have ever had any of the following disorders: asthma, epilepsy, heart disease, high or low blood pressure, Parkinson's disease, stomach ulcers, thyroid disease, or an obstruction of the intestine or bladder. * If this drug makes you dizzy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Be sure to tell your doctor if you are pregnant. Although bethanechol appears to be safe during pregnancy, extensive studies in humans have not been conducted. Thus, bethanechol should only be administered during pregnancy if the benefits to the mother clearly outweigh potential risks to the fetus. Also, tell your doctor if you are breast-feeding. It is not known if small amounts of bethanechol pass into breast milk, so cautious use is warranted in nursing women. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem..s Urecholine 0305401.scf bethanechol logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle bethanechol 03055.TXT Copyright (C) 1993 Publications International, Ltd. bromocriptine _________________________ BRAND NAMES (Manufacturers) Parlodel (Sandoz) Parlodel SnapTabs (Sandoz) TYPE OF DRUG Dopamine agonist and antiparkinsonism agent INGREDIENT bromocriptine DOSAGE FORMS Tablets (2.5 mg) Capsules (5 mg) STORAGE Bromocriptine should be stored at room temperature in a tightly closed, light-resistant container. This medication is used to treat the symptoms of Parkinson's disease and to decrease milk production in women who choose not to breast-feed their infants. Bromocriptine relieves the symptoms of Parkinson's disease by replacing a chemical (dopamine) that is diminished in the brains of these patients. Bromocriptine prevents milk production by blocking the action of the responsible hormone (prolactin). TREATMENT In order to avoid stomach irritation during therapy with bromocriptine, you can take the medication with food or with a full glass of water or milk. If you miss a dose of this medication and remember within four hours, take the missed dose immediately. If more than four hours have passed, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal pain, constipation, diarrhea, dizziness, drowsiness, fatigue, headache, insomnia, light-headedness, loss of appetite, nasal congestion, nausea, or vomiting. These should disappear as your body adjusts to the drug. Dizziness or fainting may occur, especially following the first dose. It is best, therefore, to take the first dose while lying down. If you feel dizzy or light-headed with later doses, sit or lie down; get up slowly; and be careful on stairs. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO REPORT about abnormal, involuntary movements; anxiety; confusion; convulsions; depression; difficulty in swallowing; fainting; fluid retention; hallucinations; nervousness; nightmares; skin rash; shortness of breath; tingling in the hands or feet; or visual disturbances. INTERACTIONS Bromocriptine interacts with several other types of medications: 1. Phenothiazine tranquilizers, methyldopa, haloperidol, metoclopramide, reserpine, and monoamine oxidase (MAO) inhibitors decrease the beneficial effects of bromocriptine. 2. Dosages of antihypertensive medications may require adjustment when bromocriptine is started. Before starting to take bromocriptine, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially if you are taking any of those medications listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to bromocriptine or ergotamine. * Before starting treatment with this medication, be sure to tell your doctor if you now have or have ever had heart or blood vessel disease, kidney disease, liver disease, or mental disorders. * If this drug makes you dizzy or drowsy, avoid tasks that require alertness, such as driving a car. * Do not stop taking bromocriptine unless you first check with your doctor. Stopping the drug abruptly may lead to a worsening of your condition. Your doctor may want to reduce your dosage gradually to prevent this from occurring. * Be sure to tell your doctor if you are pregnant. It is generally recommended that bromocriptine not be used during pregnancy because there have been reports of birth defects in both animals and humans whose mothers received the drug during pregnancy. Also, be sure to tell your doctor if you are breast-feeding an infant. Bromocriptine blocks milk production. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Parlodel SnapTabs 0305501.scfU bromocriptine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle bromocriptine 03024.TXT Copyright (C) 1993 Publications International, Ltd. amoxicillin _________________________ BRAND NAMES (Manufacturers) amoxicillin (various manufacturers) Amoxil (Beecham) Polymox (Bristol) Trimox (Squibb) Utimox (Parke-Davis) Wymox (Wyeth) TYPE OF DRUG Antibiotic INGREDIENT amoxicillin DOSAGE FORMS Capsules (250 mg and 500 mg) Chewable tablets (125 mg and 250 mg) Oral suspension (125 mg and 250 mg per 5-ml spoonful) Oral suspension drops (50 mg per ml) STORAGE Amoxicillin tablets and capsules should be stored at room temperature in tightly closed containers. The oral suspension should be stored in the refrigerator in a tightly closed container. Any unused portion of the suspension should be discarded after 14 days because the drug loses its potency after that time. This medication should never be frozen. Amoxicillin antibiotic is used to treat a wide variety of bacterial infections, including infections in the middle ear, skin, upper and lower respiratory tracts, and urinary tract. Amoxicillin acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Amoxicillin kills susceptible bacteria but is not effective against viruses, parasites, or fungi. TREATMENT Amoxicillin can be taken either on an empty stomach or with food or milk (in order to prevent stomach upset). The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon or the 1-ml dropper provided, as directed by your doctor or pharmacist. An ordinary kitchen teaspoon is not accurate enough. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms of infection disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given the chance to continue growing, and the infection could recur. Amoxicillin works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses at evenly spaced intervals day and night. For example, if you are to take three doses a day, the doses should be spaced eight hours apart. If you miss a dose of this drug, take the missed dose immediately. However, if you don't remember to take the missed dose until it is almost time for your next dose, take it; space the next dose about halfway through the regular interval between doses; then return to your regular schedule. Do not skip any doses. SIDE EFFECTS Minor. Diarrhea, heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to the drug. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloating, chills, cough, darkened tongue, difficulty in breathing, fever, irritation of the mouth, muscle aches, rash, rectal or vaginal itching, severe or bloody diarrhea, or sore throat. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Amoxicillin interacts with other types of medications: 1. Probenecid can increase the blood concentration of this medication. 2. Amoxicillin may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking this medication. Discuss this with your doctor. 3. The concurrent use of amoxicillin and allopurinol can increase the risk of developing a rash. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to amoxicillin, ampicillin, or penicillin or to cephalosporin antibiotics, penicillamine, or griseofulvin. * Tell your doctor if you now have or if you have ever had kidney disease, asthma, or allergies. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. You should not give your medicine to other people or use it for other infections, unless your doctor specifically directs you to do so. * Diabetics taking amoxicillin should know that this drug may cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking amoxicillin, you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although amoxicillin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Amoxil 250 mg,Amoxil 500 mg,Trimox,Wymox 250 mg,Wymox 500 mg 0302401.scf,0302402.scf,0302403.scf,0302404.scf,0302405.scf amoxicillin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle amoxicillin 03025.TXT Copyright (C) 1993 Publications International, Ltd. amoxicillin and clavulanic acid combination _________________________ BRAND NAME (Manufacturer) Augmentin (SK-Beecham) TYPE OF DRUG Antibiotic INGREDIENTs amoxicillin and clavulanic acid DOSAGE FORMS Tablets (500 mg amoxicillin and 125 mg clavulanic acid; 250 mg amoxicillin and 125 mg clavulanic acid) Chewable tablets (125 mg amoxicillin and 31.25 mg clavulanic acid; 250 mg amoxicillin and 62.5 mg clavulanic acid) Oral suspension (125 mg amoxicillin and 31.25 mg clavulanic acid per 5-ml spoonful; 250 mg amoxicillin and 62.5 mg clavulanic acid per 5-ml spoonful) STORAGE Amoxicillin and clavulanic acid tablets should be stored at room temperature in a tightly closed container. The oral suspension should be stored in the refrigerator in a tightly closed container. Any unused portion of the suspension should be discarded after ten days because the drug loses its potency after that time. This drug should never be frozen. Amoxicillin and clavulanic acid combination is used to treat a wide variety of bacterial infections, including infections of the middle ear, skin, sinuses, lower respiratory tract, and urinary tract. Amoxicillin is an antibiotic that acts by severely injuring the cell membranes of infecting bacteria, thereby preventing them from growing and multiplying. Clavulanic acid has no antibacterial activity. It acts to prevent the breakdown of amoxicillin in the body. Amoxicillin and clavulanic acid combination kills susceptible bacteria, but it is not effective against viruses, parasites, or fungi. TREATMENT Amoxicillin and clavulanic acid combination can be taken either on an empty stomach or with food or milk in order to prevent stomach upset. The suspension form of this medication should be shaken well just before measuring each dose. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and to equalize the doses. Each dose should then be measured carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. It is important to continue to take this medication for the entire time prescribed by your doctor (usually seven to ten days), even if the symptoms of infection disappear before the end of that period. If you stop taking the drug too soon, resistant bacteria are given the chance to continue growing, and the infection could recur. Amoxicillin and clavulanic acid combination works best when the level of medicine in your bloodstream is kept constant. It is best, therefore, to take the doses of this medication at evenly spaced intervals throughout the day and night. For example, if you are to take three doses a day, the doses should be spaced eight hours apart. If you miss a dose of amoxicillin and clavulanic acid combination, take the missed dose of this medication immediately. However, if you do not remember to take the missed dose until it is almost time for your next dose, take the missed dose; space the next dose about halfway through the regular interval between doses; and then return to your regular schedule. Try not to skip any doses of this medication. SIDE EFFECTS Minor. Abdominal discomfort, bloating, diarrhea, gas, headache, heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to this medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or prolonged diarrhea, chills, cough, darkened tongue, difficulty in breathing, fever, irritation of the mouth, itching, muscle aches, rash, rectal or vaginal itching, sore throat, or unusual bleeding or bruising. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS Amoxicillin and clavulanic acid can interact with several other types of medications: 1. Probenecid can increase the blood concentration of amoxicillin. 2. Amoxicillin may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking this medication. Discuss this with your doctor. 3. Amoxicillin and clavulanic acid can increase the risk of side effects with disulfiram (Antabuse). 4. The risk of skin rash is increased when amoxicillin and allopurinol are taken concurrently. Before starting this medication, BE SURE TO TELL YOUR DOCTOR about all of the medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to penicillin, amoxicillin, ampicillin, cephalosporin antibiotics, penicillamine, griseofulvin, or clavulanic acid. * Tell your doctor if you now have or if you have ever had allergies, asthma, kidney disease, or mononucleosis. * This medication has been prescribed for your current infection only. A subsequent infection, or one that someone else has, may require a different medication. You should not give your medicine to other people for their use or use it to treat other infections, unless your doctor specifically directs you to do so. * Diabetics taking amoxicillin should know that this drug may cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking amoxicillin, you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although amoxicillin and clavulanic acid combination appears to be safe during pregnancy, studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause diarrhea in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Augmentin 0302501.scfM amoxicillin and clavulanic acid combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials cial; pagetitle amoxicillin and clavulanic acid combination 03026.TXT Copyright (C) 1993 Publications International, Ltd. amphetamine _________________________ BRAND NAME (Manufacturer) Amphetamine Sulfate (Lannett) TYPE OF DRUG Amphetamine INGREDIENT amphetamine DOSAGE FORM Tablets (5 mg and 10 mg) STORAGE Store at room temperature in a tightly closed container. This medication is a central nervous system stimulant that increases mental alertness and decreases fatigue. It is used to treat narcolepsy (a disorder involving uncontrollable desires to sleep or actual sleep attacks that occur in a rapid and unpredictable manner) and abnormal behavioral syndrome in children (hyperkinetic syndrome or attention deficit disorder). The way this medication acts to control abnormal behavioral syndrome in children is not clearly understood. Amphetamine is also used as an appetite suppressant during the first few weeks of dieting (while you are trying to establish new eating habits). It is thought to relieve hunger by altering nerve impulses to the appetite control center in the brain. Its effectiveness as an appetite suppressant lasts only for short periods (three to 12 weeks), however. TREATMENT In order to avoid stomach upset, you can take amphetamine with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). If this medication is being used to treat narcolepsy or abnormal behavioral syndrome in children, the first dose each day should be taken soon after awakening. Subsequent doses should be spaced at four- to six-hour intervals. If this medication has been prescribed as a diet aid, it should be taken one hour before each meal. In order to avoid difficulty in falling asleep, the last dose of this medication each day should be taken four to six hours before bedtime. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all, just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Abdominal cramps, constipation, diarrhea, dizziness, dry mouth, false sense of well-being, insomnia, irritability, loss of appetite, nausea, overstimulation, restlessness, unpleasant taste in the mouth, or vomiting. These side effects should disappear as your body adjusts to the medication. In order to prevent constipation while taking this medication, increase the amount of fiber in your diet (bran, fresh fruits and vegetables, salads, wholegrain cereals and breads), drink more water, and exercise more (unless your doctor directs you to do otherwise). Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. If you feel dizzy, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, confusion, fatigue, headaches, impotence, mental depression, palpitations, rash, sweating, tightness in the chest, tremors, uncoordinated movements, or unusual bleeding or bruising. INTERACTIONS Amphetamine interacts with several other types of medications: 1. The concurrent use of amphetamine and a monoamine oxidase (MAO) inhibitor (isocarboxazid, pargyline, phenelzine, tranylcypromine) should be avoided, since the combination may result in convulsions, high blood pressure, or high fever. At least 14 days should separate the use of amphetamine and the use of an MAO inhibitor. 2. Barbiturate medications, phenothiazine tranquilizers (especially chlorpromazine), and tricyclic antidepressants can antagonize (act against) this medication. 3. Amphetamine can decrease the blood-pressure-lowering effects of antihypertensive medications (especially guanethidine) and may alter insulin and oral antidiabetic medication dosage requirements in diabetic patients. 4. The side effects of other central nervous system stimulants, such as caffeine, over-the-counter (nonprescription) appetite suppressants, and cough, cold, allergy, asthma, or sinus preparations, may be increased by amphetamine. 5. Acetazolamide and sodium bicarbonate can decrease the elimination and prolong the duration of action of the amphetamines. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to amphetamine or other central nervous system stimulants (albuterol, dextroamphetamine, ephedrine, epinephrine, isoproterenol, metaproterenol, norepinephrine, phenylephrine, phenylpropanolamine, pseudoephedrine, terbutaline). * Tell your doctor if you have a history of drug abuse, or if you have ever had problems with agitation, diabetes mellitus, glaucoma, heart or blood vessel disease, high blood pressure, or thyroid disease. * Amphetamine can mask the symptoms of extreme fatigue and can cause dizziness. Your ability to perform hazardous tasks, such as driving a car or operating potentially dangerous machinery, may be decreased. Appropriate caution should, therefore, be taken. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Amphetamine may be habit-forming when taken for long periods of time (both physical and psychological dependence can occur). Therefore, you should not increase the dose of this medication or take it for longer than 12 weeks unless you first consult your doctor. It is also important that you not stop taking this medication abruptly--fatigue, sleep disorders, mental depression, nausea, vomiting, stomach cramps, or pain can occur. Your doctor may, therefore, want to decrease the dose gradually in order to prevent these side effects. * Be sure to tell your doctor if you are pregnant. Although studies have not been done in humans, some of the amphetamines have caused heart, brain, and biliary tract abnormalities in the fetuses of animals who received large doses of these drugs during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. amphetamine pagetitle amphetamine 03027.TXT Copyright (C) 1993 Publications International, Ltd. ampicillin _________________________ BRAND NAMES (Manufacturers) ampicillin (various manufacturers) D-Amp (Dunhall) Omnipen (Wyeth-Ayerst) Polycillin (Apothecon) Principen (Apothecon) Totacillin (SK-Beecham) TYPE OF DRUG Antibiotic INGREDIENT ampicillin DOSAGE FORMS Capsules (250 mg and 500 mg) Oral suspension (125 mg and 250 mg per 5-ml spoonful) Oral suspension drops (100 mg per ml) STORAGE Ampicillin capsules should be stored at room temperature; ampicillin liquid suspension and drops should be refrigerated but should never be frozen. Do not keep any of these medications beyond the expiration date written on the container. All containers should be closed tightly to keep out moisture. Ampicillin is used to treat a wide variety of bacterial infections, including middle ear infections in children and infections of the respiratory, urinary, and gastrointestinal tracts. This type of antibiotic acts by severely injuring the cell walls of the infecting bacteria, thereby preventing them from growing and multiplying. Ampicillin kills susceptible bacteria but is not effective against viruses, parasites, or fungi. TREATMENT It is best to take ampicillin on an empty stomach (one hour before or two hours after a meal) with a full glass of water (not juice or soda pop). Always follow your doctor's directions. If you have been prescribed the liquid suspension form of this drug, be sure to shake the bottle well before taking this medication. The contents tend to settle on the bottom of the bottle, so it is necessary to shake the container to distribute the ingredients evenly and equalize the doses. Be sure to use specially marked droppers or spoons to accurately measure the correct amount of liquid. Household teaspoons vary in size and may not give you the correct dosage. Ampicillin works best when the level of medicine in your bloodstream is kept constant. It is, therefore, best to take the doses at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. If you miss a dose, take it as soon as possible. If it is already time for the next dose, take it; space the next two doses at half the normal time interval (for example, if you were supposed to take one tablet every six hours, take your next two doses every three hours); then resume your normal dosing schedule. Please remember that it is very important that you continue to take this medication for the entire duration prescribed to you by your doctor (usually ten days), even if the symptoms are no longer apparent before the end of that period. If you stop taking this medication too soon, resistant bacteria are given a chance to continue growing, and the infection could recur. SIDE EFFECTS Minor. Diarrhea, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about darkened tongue, difficulty in breathing, fever, joint pain, mouth sores, rash, rectal or vaginal itching, severe or bloody diarrhea, or sore throat. Also, if your symptoms of infection seem to be getting worse rather than improving, you should contact your doctor. INTERACTIONS This drug interacts with other types of medications: 1. Ampicillin interacts with allopurinol, chloramphenicol, erythromycin, paromomycin, tetracycline, and troleandomycin. 2. Ampicillin may decrease the effectiveness of oral contraceptives (birth control pills), and pregnancy could result. You should, therefore, use a different or additional form of birth control while taking ampicillin. BE SURE TO TELL YOUR DOCTOR about any medications you are taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to penicillin, ampicillin, amoxicillin, cephalosporin antibiotics, penicillamine, or griseofulvin. * Tell your doctor if you have or have ever had liver or kidney disease, asthma, hay fever, or other allergies. * This medication has been prescribed for your current infection only. Another infection later on, or one that someone else has, may require a different medicine. Do not give your medicine to other people or use it for other infections, unless your doctor directs you to do so. * Diabetics taking ampicillin should know that this drug may cause a false-positive sugar reaction with a Clinitest urine glucose test. To avoid this problem while taking ampicillin, you should switch to Clinistix or Tes-Tape to test your urine for sugar. * Be sure to tell your doctor if you are pregnant. Although ampicillin appears to be safe during pregnancy, extensive studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may temporarily alter the bacterial balance in the intestinal tract of the nursing infant, resulting in diarrhea. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Omnipen 250 mg,Omnipen 500 mg 0302701.scf,0302702.scfm ampicillin logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle ampicillin 03028.TXT Copyright (C) 1993 Publications International, Ltd. antipyrine, benzocaine, oxyquinoline, and glycerin combination _________________________ BRAND NAMES (Manufacturers) Allergen (Goldline) Auralgan (Ayerst) Auromid (Vangard) Auroto Otic (Barre) Earocol (Mallard) Oto (Vortech) TYPE OF DRUG Otic analgesic and anesthetic INGREDIENTS antipyrine, benzocaine, oxyquinoline, and glycerin DOSAGE FORM Otic solution (5.4% antipyrine, 1.4% benzocaine, oxyquinoline in glycerin) STORAGE This medication should be stored at room temperature in a tightly closed container. If the solution changes color or consistency, do not use it any longer. Never add water to the solution; it may lose its effectiveness. Antipyrine, benzocaine, oxyquinoline, and glycerin combination is used to relieve congestion, pain, and inflammation caused by an ear infection. It can also be used to help remove excess wax from the ear. Antipyrine is an analgesic (pain-reliever); benzocaine is a local anesthetic (deadens the nerve endings); and glycerin provides a drying effect. TREATMENT For accuracy, and in order to avoid contamination, another person should administer the ear drops if possible. If you want to warm the ear drops before administration, roll the bottle back and forth between your hands. It is very important that you DO NOT place the bottle in boiling water. To administer, tilt the head to one side with the affected ear turned upward. Grasp the earlobe and gently pull it upward and back to straighten the ear canal. (If administering ear drops to a child, gently pull the earlobe downward and back.) Fill the dropper and place the prescribed number of drops into the ear. Do not to touch the dropper to the ear canal. Keep the ear tilted upward for about five minutes. Your doctor may want you to put a piece of cotton soaked with the drug into your ear to keep the drug from leaking out. DO NOT wash or wipe the dropper after use. If you miss a dose, use the drops as soon as possible, unless it is almost time for the next dose. In that case, do not use the missed dose; return to your regular schedule. SIDE EFFECTS Minor. Burning or itching immediately upon application. The burning or itching should last for only a few minutes. Major. Be sure to tell your doctor about any severe or persistent burning or itching. INTERACTIONS This medication should not interact with other medications as long as it is used according to directions. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to medications, especially to antipyrine, benzocaine, or any local anesthetic or to oxyquinoline or glycerin. * Before taking this medication, it is very important to tell your doctor if you have ever had a perforated eardrum or ear discharge. * Be sure to tell your doctor if you are pregnant. The effects of antipyrine, benzocaine, oxyquinoline, and glycerin during pregnancy have not been studied. Also, tell your doctor if you are breast-feeding an infant. It is not known if this drug passes into human breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. antipyrine, benzocaine, oxyquinoline, and glycerin ...bination pagetitle antipyrine, benzocaine, oxyquinoline, and glycerin combination 03029.TXT Copyright (C) 1993 Publications International, Ltd. aspirin _________________________ BRAND NAMES (Manufacturers) A.S.A. Enseals [*] (Lilly) aspirin [*] (various manufacturers) Bayer [*] (Glenbrook) Bayer Children's [*] (Glenbrook) Easprin (Parke-Davis) Ecotrin [*] (SK-Beecham) Empirin [*] (Burroughs Wellcome) Measurin [*] (Winthrop Pharmaceuticals) ZORprin (Boots) * Available over-the-counter (without a prescription) TYPE OF DRUG Analgesic and anti-inflammatory INGREDIENT aspirin DOSAGE FORMS Tablets (65 mg, 81 mg, 325 mg, and 500 mg) Chewable tablets (81 mg) Enteric-coated tablets (325 mg, 500 mg, 650 mg, and 975 mg) Sustained-release tablets (650 mg and 800 mg) Caplets (325 mg and 500 mg) Suppositories (60 mg, 120 mg, 130 mg, 195 mg, 200 mg, 300 mg, 325 mg, 600 mg, 650 mg, and 1.2 g) STORAGE Store at room temperature in a tightly closed container. Moisture causes aspirin to decompose. Discard the medicine if it has a vinegary odor. Aspirin is used to treat mild to moderate pain, fever, and inflammatory conditions, such as rheumatic fever, rheumatoid arthritis, and osteoarthritis. Because it prevents the formation of blood clots, aspirin has also been shown to be effective in reducing the risk of transient ischemic attacks (small strokes) and to have a protective effect against heart attacks in men with angina (chest pain). Aspirin is a useful medication that is utilized in the treatment of a wide variety of diseases. Because it is so common and so readily available, you may not think of it as "real medicine." This is a common misconception; aspirin certainly is "real medicine." If your doctor prescribes or recommends aspirin for your condition, it is for a good reason. FOLLOW YOUR DOCTOR'S DIRECTIONS CAREFULLY! TREATMENT To avoid stomach irritation, you should take aspirin with food or with a full glass of water or milk. Chewable aspirin tablets may be chewed, dissolved in fluid, or swallowed whole. Swallow the sustained-release or enteric-coated tablets whole. Crushing, chewing, or breaking these tablets destroys their sustained-release activity and increases side effects. To use the suppository, remove the foil wrapper and moisten the suppository with water (if it is too soft to insert, refrigerate the suppository for half an hour or run cold water over it before you remove the wrapper). Lie on your left side with your right knee bent. Push the suppository into the rectum, pointed end first. Lie still for a few minutes. Avoid having a bowel movement for at least an hour to give the drug time to be absorbed. If you are using aspirin to treat an inflammatory condition, it may take two or three weeks until the full benefits are observed. If you are taking aspirin on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Heartburn, nausea, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about any loss of hearing or ringing in the ears; bloody or black, tarry stools; confusion; difficult or painful urination; difficulty in breathing; dizziness; severe stomach pain; skin rash; or unusual weakness. INTERACTIONS Aspirin interacts with a number of other types of medications: 1. Aspirin can increase the effects of anticoagulants (blood thinners), such as warfarin, leading to bleeding complications. 2. The antigout effects of probenecid and sulfinpyrazone may be blocked by aspirin. 3. Aspirin can increase the gastrointestinal side effects of nonsteroidal anti-inflammatory drugs, alcohol, phenylbutazone, and adrenocorticosteroids (cortisone-like medicines). 4. Ammonium chloride, methionine, and furosemide can increase the side effects of aspirin. 5. Acetazolamide, methazolamide, antacids, and phenobarbital can decrease the effectiveness of aspirin. 6. Aspirin can increase the side effects of methotrexate, penicillin, thyroid hormone, phenytoin, sulfinpyrazone, naproxen, valproic acid, insulin, and oral antidiabetic medications. 7. Aspirin can decrease the effects of spironolactone. Before starting to take aspirin, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to aspirin, methyl salicylate (oil of wintergreen), tartrazine, diclofenac, diflunisal, flurbiprofen, fenoprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, or tolmetin. * Before starting to take aspirin, be sure to tell your doctor if you now have or if you have ever had asthma, bleeding disorders, congestive heart failure, diabetes, glucose-6-phosphate dehydrogenase (G6PD) deficiency, gout, hemophilia, high blood pressure, kidney disease, liver disease, nasal polyps, peptic ulcers, or thyroid disease. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking aspirin. Aspirin is usually discontinued five to seven days before surgery, in order to prevent bleeding complications. * The use of aspirin in children (about 16 years of age or less) with the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Aspirin should, therefore, not be given to children with signs of an infection. * Large doses of aspirin (greater than eight 325-mg tablets per day) can cause erroneous urine glucose test results. Diabetics should, therefore, check with their doctor before changing insulin doses while taking this medication. * Additional medications that contain aspirin should not be taken without your doctor's approval. Be sure to check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold preparations to see if they contain aspirin. * Be sure to tell your doctor if you are pregnant. Aspirin has been shown to cause birth defects in the offspring of animals that received large doses during pregnancy. Large doses of aspirin given to a pregnant woman close to term can prolong labor and cause bleeding complications in the mother and heart problems in the infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of aspirin pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. aspirin pagetitle aspirin 03030.TXT Copyright (C) 1993 Publications International, Ltd. aspirin and codeine combination _________________________ BRAND NAME (Manufacturer) aspirin with codeine (various manufacturers) Empirin with Codeine (Burroughs Wellcome) TYPE OF DRUG Analgesic combination INGREDIENTS aspirin and codeine DOSAGE FORM Tablets (325 mg aspirin with 15 mg, 30 mg, or 60 mg of codeine) Note that on the label of the vial of tablets, the name of this drug is followed by a number. This number refers to the amount of codeine: #2 contains 1/4 grain (15 mg) codeine, #3 has 1/2 grain (30 mg) codeine, and #4 contains 1 grain (60 mg) codeine. STORAGE Aspirin and codeine combination tablets should be stored at room temperature in a tightly closed container. Care should be taken to prevent moisture from entering the container, as it will cause the aspirin in this product to decompose. Discard the medicine if it has a vinegary odor. This medication is used to relieve tension headaches and mild to severe pain. Codeine is a narcotic analgesic that acts on the central nervous system to relieve pain. TREATMENT In order to avoid stomach upset, you can take this medication with food or milk. This medication works best if you take it at the onset of pain, rather than when the pain becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, indigestion, light-headedness, loss of appetite, nausea, sweating, and vomiting. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), drink more water, and exercise (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about severe abdominal pain; bloody or black, tarry stools; chest tightness; difficult or painful urination; difficulty in breathing; fatigue; itching; palpitations; rash; ringing in the ears; tremors; or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of it with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. The concurrent use of aspirin and codeine combination and monoamine oxidase (MAO) inhibitors should be avoided. At least 14 days should separate the use of aspirin and codeine combination and the use of an MAO inhibitor. 3. Alcohol and anti-inflammatory medication can increase the gastrointestinal side effects of this medication. 4. The side effects of anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, phenytoin, and methotrexate may be increased by the aspirin in this product. 5. Large doses of antacids increase the elimination of the aspirin portion of this medication from the body and decrease its effectiveness. 6. Aspirin may decrease the antigout effects of probenecid and sulfinpyrazone. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to aspirin, methyl salicylate (oil of wintergreen), diclofenac, diflunisal, flurbiprofen, fenoprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, and tolmetin or to codeine or other narcotic analgesics (such as hydrocodone, hydromorphone, meperidine, methadone, morphine, oxycodone, and propoxyphene). * Tell your doctor if you now have or if you have ever had abdominal disease, Addison's disease, bleeding or blood disorders, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, hemophilia, kidney disease, liver disease, lung disease, peptic ulcers, porphyria, enlarged prostate gland, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. Aspirin-containing medication is usually discontinued five to seven days before surgery, to prevent bleeding complications. * The use of aspirin in children (about 16 years of age or less) in an attempt to treat the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Aspirin-containing products should, therefore, not be given to children with signs of infection. * Because this drug contains codeine, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually. * Because this product contains aspirin, additional medications that contain aspirin should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold products to see if they contain aspirin. * Diabetic patients should be aware that large doses of aspirin (more than eight 325-mg tablets per day) may interfere with urine sugar testing. Diabetics should, therefore, check with their doctor before changing their insulin dose. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Codeine, used regularly in large doses during pregnancy, may result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Large amounts of aspirin taken close to the end of pregnancy may prolong labor and cause bleeding problems in the mother and heart problems in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Empirin with Codeine #2 0303001.scf aspirin and codeine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials "pagetitle aspirin and codeine combination 03031.TXT Copyright (C) 1993 Publications International, Ltd. aspirin and oxycodone combination _________________________ BRAND NAMES (Manufacturers) Codoxy (Halsey) oxycodone hydrochloride, oxycodone terephthalate, and aspirin (various manufacturers) Percodan (DuPont) Percodan-Demi (DuPont) TYPE OF DRUG Analgesic combination INGREDIENTS aspirin and oxycodone DOSAGE FORM Tablets (325 mg aspirin with 2.25 mg oxycodone hydrochloride and 0.19 mg oxycodone terephthalate; 325 mg aspirin with 4.5 mg oxycodone hydrochloride and 0.38 mg oxycodone terephthalate) STORAGE Store at room temperature in a tightly closed container. Moisture causes the aspirin in this product to decompose. Discard the medicine if it has a vinegary odor. This combination medication is used to relieve moderate to severe pain. Oxycodone is a narcotic analgesic that acts on the central nervous system to relieve pain. TREATMENT In order to avoid stomach upset, you can take this medication with food or milk. This medication works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, indigestion, light-headedness, loss of appetite, nausea, sweating, or vomiting. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), drink more water, and exercise (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy, light-headed, or nauseated, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; chest tightness; difficult or painful urination; difficulty in breathing; fatigue; itching; palpitations; rash; ringing in the ears; severe abdominal pain; tremors; or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. The concurrent use of aspirin and oxycodone combination and monoamine oxidase (MAO) inhibitors should be avoided. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. Alcohol and anti-inflammatory medications can increase the gastrointestinal side effects of this medication. 4. The side effects of anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, phenytoin, and methotrexate may be increased by the aspirin in this product. 5. Large doses of antacids increase the elimination of the aspirin portion of this medication from the body and decrease its effectiveness. 6. The aspirin portion of this medication may decrease the antigout effects of probenecid and sulfinpyrazone. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to aspirin, methyl salicylate (oil of wintergreen), diclofenac, diflunisal, flurbiprofen, fenoprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, or tolmetin or to oxycodone or other narcotic analgesics (such as codeine, hydrocodone, hydromorphone, meperidine, methadone, morphine, or propoxyphene). * Tell your doctor if you now have or if you have ever had abdominal disease, Addison's disease, bleeding or blood disorders, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, hemophilia, kidney disease, liver disease, lung disease, peptic ulcers, porphyria, enlarged prostate gland, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking this drug. Aspirin-containing medications are usually stopped five to seven days before surgery, in order to prevent complications. * The use of aspirin in children (about 16 years of age or less) with the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Aspirin-containing products should, therefore, not be given to children who have any signs of infection. * Because this drug contains oxycodone, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. * If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually to prevent or minimize this response. * Because this product contains aspirin, additional medications that contain aspirin should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold products to see if they contain aspirin. * Diabetic patients should be aware that large doses of aspirin (more than eight 325-mg tablets per day) may interfere with urine sugar testing. Diabetics should, therefore, check with their doctor before changing their insulin dose. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Oxycodone, used regularly in large doses during pregnancy, may result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Large amounts of aspirin taken close to the end of pregnancy may prolong labor and cause bleeding problems in the mother and heart problems in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Percodan 0303101.scf aspirin and oxycodone combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials R"pagetitle aspirin and oxycodone combination 03032.TXT Copyright (C) 1993 Publications International, Ltd. aspirin, caffeine, and butalbital combination _________________________ BRAND NAMES (Manufacturers) B-A-C (Mayrand) butalbital with aspirin and caffeine (various manufacturers) Fiorgen PF (Goldline) Fiorinal (Sandoz) Isollyl Improved (Rugby) Lanorinal (Lannett) Marnal (Vortech) TYPE OF DRUG Analgesic combination and sedative INGREDIENTS aspirin, caffeine, and butalbital DOSAGE FORMS Tablets (325 mg aspirin, 40 mg caffeine, and 50 mg butalbital; 650 mg aspirin, 40 mg caffeine, and 50 mg butalbital) Capsules (325 mg aspirin, 40 mg caffeine, and 50 mg butalbital) STORAGE Aspirin, caffeine, and butalbital combination tablets and capsules should be stored at room temperature in tightly closed containers. Moisture causes the aspirin in this product to decompose. Discard the medicine if it has a vinegary odor. This combination medication is used to relieve tension headaches and mild to moderate pain. Butalbital belongs to a group of drugs known as barbiturates. The barbiturates act on the central nervous system (brain and spinal cord) to produce relaxation. Caffeine is a central nervous system stimulant. It constricts blood vessels in the head, which may help to relieve headaches. TREATMENT To avoid stomach upset, take this drug with food or milk. This drug works most effectively if you take it at the onset of pain, rather than waiting until the pain is intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Dizziness, drowsiness, gas, loss of appetite, nausea, nervousness, sleeping disorders, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; chest tightness; confusion; difficult or painful urination; light-headedness; loss of coordination; palpitations; rash; ringing in the ears; shortness of breath; severe abdominal pain; sore throat and fever; or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Alcohol and anti-inflammatory medications can increase the gastrointestinal side effects of this medication. 3. The side effects of anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, phenytoin, and methotrexate may be increased by the aspirin in this product. 4. Large doses of antacids increase the elimination of the aspirin portion of this medication from the body and decrease its effectiveness. 5. Aspirin may decrease the antigout effects of probenecid and sulfinpyrazone. 6. Butalbital can increase the elimination from the body of oral contraceptives (birth control pills), carbamazepine, adrenocorticosteroids (cortisone-like drugs), digoxin, doxycycline, tricyclic antidepressants, griseofulvin, metronidazole, theophylline, aminophylline, and quinidine, thereby decreasing the effectiveness of these medications. 7. The side effects of cyclophosphamide may be increased by butalbital. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to aspirin, methyl salicylate (oil of wintergreen), diclofenac, diflunisal, flurbiprofen, fenoprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, or tolmetin; to caffeine; or to butalbital or other barbiturates (such as phenobarbital, pentobarbital, or secobarbital). * Tell your doctor if you now have or if you have ever had bleeding problems, blood disorders, diabetes mellitus, heart disease, hemophilia, hyperactivity, kidney disease, liver disease, mental depression, peptic ulcers, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. Aspirin-containing medication is usually discontinued five to seven days before surgery to prevent bleeding complications. * The use of aspirin in children (about 16 years of age or less) in an attempt to treat the symptoms of the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Therefore, it is very important that aspirin-containing products should, not be given to children with the signs of these infections. * Because this drug contains butalbital, it has the potential for abuse and must be used with caution. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, convulsions, sleep disorders, nervousness, irritability, or weakness). Your doctor may, therefore, want to reduce the dosage gradually. * Because this product contains aspirin, additional medications that contain aspirin should not be taken without your physician's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold products to see if they contain aspirin. * You should not take more than six tablets or capsules of this drug in one day, unless your doctor specifically directs you to do so. * Diabetic patients should be aware that large doses of aspirin (more than eight 325-mg tablets or capsules per day) may interfere with urine sugar testing. Diabetics should, therefore, check with their doctor before changing their insulin dose. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Butalbital, used regularly in large doses during pregnancy, may result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Large amounts of aspirin taken close to the end of pregnancy may prolong labor and cause bleeding problems in the mother and heart problems in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. aspirin, caffeine, and butalbital combination pagetitle aspirin, caffeine, and butalbital combination 03033.TXT Copyright (C) 1993 Publications International, Ltd. aspirin, caffeine, and dihydrocodeine combination _________________________ BRAND NAME (Manufacturer) Synalgos-DC (Ives) TYPE OF DRUG Analgesic combination INGREDIENTS aspirin, caffeine, and dihydrocodeine DOSAGE FORM Capsules (356.4 mg aspirin, 30 mg caffeine, and 16 mg dihydrocodeine) STORAGE This medication should be stored at room temperature in a tightly closed container. Moisture causes the aspirin in this product to decompose. Aspirin, caffeine, and dihydrocodeine combination is used to relieve mild to moderate pain. Dihydrocodeine is a narcotic analgesic that acts on the central nervous system (brain and spinal cord) to relieve pain. Caffeine is a central nervous system stimulant. It constricts the blood vessels in the head, which may help to relieve headaches. TREATMENT In order to avoid stomach upset, you can take this medication with food or milk. This medication works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. If you are taking this drug on a schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, headache, indigestion, loss of appetite, nausea, nervousness, restlessness, sleep disorders, sweating, or vomiting. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), drink more water, and exercise (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about black, tarry stools; blurred vision; chest tightness; difficult or painful urination; difficulty in breathing; fainting; itching; light-headedness; loss of coordination; palpitations; ringing in the ears; severe abdominal pain; skin rash; sore throat and fever; or unusual bleeding or bruising. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Concurrent use of this drug and monoamine oxidase (MAO) inhibitors should be avoided. At least 14 days should separate the use of aspirin, caffeine, and dihydrocodeine combination and the use of an MAO inhibitor. 3. Alcohol and anti-inflammatory medication can increase the gastrointestinal side effects of this medication. 4. The aspirin in this product may increase the side effects of anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, phenytoin, and methotrexate. 5. Large doses of antacids increase the elimination of the aspirin portion of this medication from the body and decrease its effectiveness. 6. The aspirin portion of this medication may decrease the antigout effects of probenecid and sulfinpyrazone. BE SURE TO TELL YOUR DOCTOR about any medications that you are currently taking, especially any of the medications that are listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to aspirin, methyl salicylate (oil of wintergreen), diclofenac, diflunisal, flurbiprofen, fenoprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, or tolmetin; to dihydrocodeine or other narcotic analgesics (such as codeine, hydrocodone, hydromorphone, meperidine, methadone, morphine, oxycodone, and propoxyphene); or to caffeine. * Tell your doctor if you now have or if you have ever had abdominal disease, Addison's disease, bleeding or blood disorders, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, hemophilia, kidney disease, liver disease, lung disease, peptic ulcers, prostate disease, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. Aspirin-containing medication is usually discontinued five to seven days before surgery, to prevent bleeding complications. * The use of aspirin in children (about 16 years of age or less) in an attempt to treat the symptoms of the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Therefore, it is very important that aspirin-containing products should, not be given to children with the signs of these infections. * Because this drug contains dihydrocodeine, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually. * Because this product contains aspirin, additional medications that contain aspirin should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold products to see if they contain aspirin. * Diabetics should be aware that large doses of aspirin (more than eight 325-mg tablets of aspirin per day) may interfere with urine sugar testing and should, therefore, check with their doctor before changing their insulin dose. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Dihydrocodeine, used regularly in large doses during pregnancy, may result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Large amounts of aspirin taken close to the end of pregnancy may prolong labor and cause bleeding problems in the mother and heart problems in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. aspirin, caffeine, and dihydrocodeine combination pagetitle aspirin, caffeine, and dihydrocodeine combination 03034.TXT Copyright (C) 1993 Publications International, Ltd. aspirin, caffeine, and propoxyphene combination _________________________ BRAND NAMES (Manufacturers) Darvon Compound (Lilly) Dolene Compound-65 (Lederle) Doxaphene Compound (Major) propoxyphene hydrochloride compound (various manufacturers) TYPE OF DRUG Analgesic combination INGREDIENTS aspirin, caffeine, and propoxyphene DOSAGE FORM Capsules (389 mg aspirin, 32.4 mg caffeine, and 32 mg propoxyphene; 389 mg aspirin, 32.4 mg caffeine, and 65 mg propoxyphene) STORAGE Aspirin, caffeine, and propoxyphene capsules should be stored at room temperature in a tightly closed container. Moisture causes the aspirin to decompose. Discard the medicine if it has a vinegary odor. Aspirin, caffeine, and propoxyphene combination is used to relieve mild to moderate pain. Propoxyphene is a narcotic analgesic that acts on the central nervous system (brain and spinal cord) to relieve pain. Caffeine is a central nervous system stimulant. It constricts blood vessels in the head, which may help to relieve headaches. TREATMENT In order to avoid stomach upset, you can take this medication with food or milk. This medication works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, indigestion, loss of appetite, nausea, sweating, or vomiting. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), drink more water, and exercise (unless your doctor directs you to do otherwise). If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about severe abdominal pain; bloody or black, tarry stools; chest tightness; difficult or painful urination; difficulty in breathing; fatigue; itching; lightheadedness; palpitations; rash; ringing in the ears; tremors; or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, or phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Concurrent use of this medication and monoamine oxidase (MAO) inhibitors should be avoided. At least 14 days should separate the use of aspirin, caffeine, and propoxyphene combination and the use of an MAO inhibitor. 3. Alcohol and anti-inflammatory medication can increase the gastrointestinal side effects of this medication. 4. The aspirin in this product may increase the side effects of anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, phenytoin, and methotrexate. 5. Large doses of antacids increase the elimination of the aspirin portion of this medication from the body and decrease its effectiveness. 6. The aspirin portion of this medication may decrease the antigout effects of probenecid and sulfinpyrazone. 7. The propoxyphene portion of this medication can decrease the elimination of carbamazepine from the body, which can lead to an increase in side effects. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to aspirin, methyl salicylate (oil of wintergreen), diclofenac, diflunisal, flurbiprofen, fenoprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, or tolmetin; to propoxyphene or other narcotic analgesics (such as codeine, hydrocodone, hydromorphone, meperidine, methadone, morphine, and oxycodone); or to caffeine. * Tell your doctor if you now have or if you have ever had abdominal disease, Addison's disease, bleeding or blood disorders, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, hemophilia, kidney disease, liver disease, lung disease, peptic ulcer, prostate disease, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having any surgery or other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. Aspirin-containing medication is usually discontinued five to seven days before surgery, to prevent bleeding complications. * The use of aspirin in children (about 16 years of age or less) with the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Aspirin-containing products should, therefore, not be given to children with signs of infection. * Because this drug contains propoxyphene, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually. * Because this product contains aspirin, additional medications that contain aspirin should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold products to see if they contain aspirin. * You should not take more than six capsules of this drug in one day, unless your doctor specifically directs you to take more than six. * Diabetics should be aware that large doses of aspirin (more than eight 325-mg tablets of aspirin per day) may interfere with urine sugar testing. Diabetics should, therefore, check with their doctor before changing their insulin dose. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Propoxyphene, used regularly in large doses during pregnancy, may result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Large amounts of aspirin taken close to the end of pregnancy may prolong labor and cause bleeding problems in the mother and heart problems in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Darvon Compound-65 0303401.scf aspirin, caffeine, and propoxyphene combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials #pagetitle aspirin, caffeine, and propoxyphene combination 03035.TXT `"B"Copyright (C) 1993 Publications International, Ltd. aspirin, caffeine, butalbital, and codeine combination _________________________ BRAND NAMES (Manufacturers) B-A-C #3 (Mayrand) Fiorinal with Codeine (Sandoz) TYPE OF DRUG Analgesic combination and sedative INGREDIENTS aspirin, caffeine, butalbital, and codeine DOSAGE FORMS Tablets (325 mg aspirin, 40 mg caffeine, 50 mg butalbital, and 30 mg codeine) Capsules (325 mg aspirin, 40 mg caffeine, 50 mg butalbital, and 7.5 mg, 15 mg, or 30 mg codeine) Note that on the label of the vial of tablets or capsules the name of this drug is followed by a number. This number refers to the amount of codeine present (#1 contains 7.5 mg codeine, #2 has 15 mg codeine, and #3 contains 30 mg codeine). STORAGE Aspirin, caffeine, butalbital, and codeine combination tablets and capsules should be stored at room temperature in tightly closed containers. Moisture causes the aspirin in this product to decompose. Discard the medicine if it has a vinegary odor. This combination medication is used to relieve tension headaches and mild to moderate pain. Codeine is a narcotic analgesic that acts on the central nervous system (brain and spinal cord) to relieve pain. Butalbital belongs to a group of drugs known as barbiturates. The barbiturates act on the central nervous system to produce relaxation. Caffeine is a central nervous system stimulant. It constricts blood vessels in the head, which may help to relieve headaches. TREATMENT In order to avoid stomach upset, you can take this medication with food or milk. This medication works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, flushing, headache, indigestion, loss of appetite, nausea, nervousness, sleep disorders, sweating, tiredness, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), drink more water, and exercise (unless your doctor directs you to do otherwise). Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about bloody or black, tarry stools; blurred vision; chest tightness; confusion; difficult or painful urination; loss of coordination; palpitations; rash; ringing in the ears; shortness of breath; severe abdominal pain; sore throat and fever; or yellowing of the eyes or skin. INTERACTIONS This combination medication interacts with several other types of drugs: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, or phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. Alcohol and anti-inflammatory medications can increase the gastrointestinal side effects of this medication. 3. The side effects of anticoagulants (blood thinners, such as warfarin), oral antidiabetic agents, phenytoin, and methotrexate may be increased by the aspirin content. 4. Large doses of antacids increase the elimination of the aspirin portion of this medication from the body and decrease its effectiveness. 5. Aspirin may decrease the antigout effects of probenecid and sulfinpyrazone. 6. Butalbital can increase the elimination from the body of oral contraceptives (birth control pills), carbamazepine, adrenocorticosteroids (cortisone-like drugs), digoxin, doxycycline, tricyclic antidepressants, griseofulvin, metronidazole, theophylline, aminophylline, and quinidine, thereby decreasing the effectiveness of these medications. 7. The side effects of cyclophosphamide may be increased by butalbital. 8. This medication may interact with monoamine oxidase (MAO) inhibitors. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to aspirin, methyl salicylate (oil of wintergreen), diclofenac, diflunisal, flurbiprofen, fenoprofen, ibuprofen, indomethacin, ketoprofen, meclofenamate, mefenamic acid, naproxen, piroxicam, sulindac, or tolmetin; to codeine or other narcotic analgesics (such as hydrocodone, hydromorphone, meperidine, methadone, morphine, oxycodone, and propoxyphene); to caffeine; or to butalbital or other barbiturates (such as phenobarbital, pentobarbital, and secobarbital). * Tell your doctor if you now have or if you have ever had abdominal disease, Addison's disease, bleeding or blood disorders, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, hemophilia, kidney disease, liver disease, lung disease, peptic ulcers, porphyria, prostate disease, or thyroid disease. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. Aspirin-containing medication is usually discontinued five to seven days before surgery, to prevent bleeding complications. * The use of aspirin in children (about 16 years of age or less) with the flu or chicken pox has been associated with a rare, life-threatening condition called Reye's syndrome. Aspirin-containing products should, therefore, not be given to children with signs of infection. * Because this drug contains codeine and butalbital, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly, unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually. * Because this product contains aspirin, additional medications that contain aspirin should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, cough, and cold products to see if they contain aspirin. * You should not take more than six tablets or capsules of this drug in one day, unless your doctor specifically directs you to do so. * Diabetic patients should be aware that large doses of aspirin (more than eight 325-mg tablets or capsules per day) may interfere with urine sugar testing. Diabetics should, therefore, check with their doctor before changing their insulin dose. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Codeine and butalbital, used regularly in large doses during pregnancy, may result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Large amounts of aspirin taken close to the end of pregnancy may prolong labor and cause bleeding problems in the mother and heart problems in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Fiorinal with Codeine #3 0303501.scf aspirin, caffeine, butalbital, and codeine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField r&J&o& Additional Materials &pagetitle aspirin, caffeine, butalbital, and codeine combination 03036.TXT Copyright (C) 1993 Publications International, Ltd. astemizole _________________________ BRAND NAME (Manufacturer) Hismanal (Janssen) TYPE OF DRUG Antihistamine INGREDIENT astemizole DOSAGE FORM Tablets (10 mg) STORAGE Store this medication in a tightly closed container in a cool, dry place, away from heat or direct light, and out of the reach of children. Astemizole is indicated for the treatment of the allergic symptoms of conditions such as hay fever or hives. It belongs to a group of drugs known as antihistamines, which act by blocking the action of histamine, a chemical that is released by the body during an allergic reaction. It may be useful in patients unable to tolerate side effects, such as sedation, that other antihistamines may produce. TREATMENT Astemizole should be taken only as needed, and the prescribed dose should not be exceeded. Because food significantly impairs the absorption of this medication, the drug should be taken on an empty stomach, at least two hours after a meal. No additional food should be taken for at least an hour after a dose is taken. It may take up to two days for astemizole to achieve its full therapeutic effect. SIDE EFFECTS Minor. Abdominal pain, diarrhea, drowsiness, dry mouth, gas, headache, increased appetite, nervousness, increased sensitivity to sunlight, or weight gain. To relieve mouth dryness, chew sugarless gum or suck on ice chips or hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. It is ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about symptoms of a hypersensitivity reaction such as shortness of breath or rash. INTERACTIONS Although clinical studies with astemizole have not shown significant interactions with central nervous system depressants, such as alcohol or diazepam, it is important to be aware of the possibility of interactions. BE SURE TO TELL YOUR DOCTOR about all medications you are taking before starting astemizole. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medication, especially to astemizole. * Although astemizole is a less-sedating antihistamine, some patients may be more sensitive to its effects. Until you are familiar with how astemizole affects you, be especially cautious in performing tasks that require alertness. * Tell your physician of any known liver ailments. Patients with diseases of the liver may not eliminate astemizole as rapidly as those with normal liver function. * Be sure to tell your doctor if you are pregnant or plan to become pregnant. The safety of astemizole in pregnant women has not been established. In animal studies in which administered doses of astemizole exceeded dosage levels used in humans, an increased incidence of low birth weight and risk of infant death was noted. Since breakdown products of the drug may remain in the body for up to four months after use, this fact should be taken into consideration if pregnancy is being planned. * Because babies are more sensitive to the side effects of antihistamines, such as excitement or irritability, astemizole is not recommended in nursing mothers until its effects upon infants are more fully established. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. astemizole of W pagetitle astemizole 03037.TXT Copyright (C) 1993 Publications International, Ltd. atenolol _________________________ BRAND NAMES (Manufacturers) atenolol (various manufacturers) Tenormin (ICI Pharma) TYPE OF DRUG Beta-adrenergic blocking agent INGREDIENT atenolol DOSAGE FORM Tablets (25 mg, 50 mg, and 100 mg) STORAGE Atenolol should be stored at room temperature in a tightly closed, light-resistant container. Atenolol is used to treat high blood pressure and angina (chest pain). It belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. These drugs work by controlling impulses along certain nerve pathways. The result is a decreased workload for the heart. TREATMENT Atenolol can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach, depending on your doctor's instructions. Try to take the medication at the same time(s) each day. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible. However, if the next scheduled dose is within eight hours (if you are taking this medicine only once a day) or within four hours (if you are taking this medicine more than once a day), do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. It is important to remember that atenolol does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Anxiety; constipation; decreased sexual ability; diarrhea; difficulty in sleeping; drowsiness; dryness of the eyes, mouth, and skin; headache; nausea; nervousness; stomach discomfort; tiredness; or weakness. These side effects should disappear as your body adjusts to the medicine. If you are extra-sensitive to the cold, be sure to dress warmly during cold weather. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), and drink more water (unless your doctor directs you to do otherwise). Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. Sucking on ice chips or chewing sugarless gum helps relieve mouth or throat dryness. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about breathing difficulty or wheezing; cold hands or feet (due to decreased blood circulation to skin, fingers, and toes); confusion; dizziness; fever and sore throat; hair loss; hallucinations; light-headedness; mental depression; nightmares; reduced alertness; skin rash; swelling of the ankles, feet, or lower legs; or unusual bleeding or bruising. INTERACTIONS Atenolol interacts with a number of other medications: 1. Indomethacin has been shown to decrease the blood-pressure-lowering effects of the beta blockers. This may also happen with aspirin or other salicylates. 2. Concurrent use of beta blockers and calcium channel blockers (diltiazem, nifedipine, and verapamil) or disopyramide can lead to heart failure or very low blood pressure. 3. Cimetidine and oral contraceptives (birth control pills) can increase the side effects of beta blockers. 4. Side effects may also be increased when beta blockers are taken with clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of a beta blocker and the use of an MAO inhibitor. 5. Alcohol, barbiturates, and rifampin can decrease the effectiveness of atenolol. 6. Beta blockers may antagonize (work against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 7. Beta blockers can also interact with insulin or oral antidiabetic agents--raising or lowering blood sugar levels or masking the symptoms of low blood sugar. 8. The action of beta blockers may be increased if they are used with chlorpromazine, furosemide, or hydralazine, which may have a negative effect. 9. In patients who have congestive heart failure treated with digitalis glycosides (for example, digoxin or digitoxin), caution should be used as both betaxolol and digitalis products may slow heart conduction. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Before starting to take this medication, it is important to tell your doctor if you have ever had unusual or allergic reactions to any beta blocker (acebutolol, atenolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, and timolol). * Tell your doctor if you now have or if you have ever had allergies, asthma, hay fever, eczema, slow heartbeat, bronchitis, diabetes mellitus, emphysema, heart or blood vessel disease, kidney disease, liver disease, thyroid disease, or poor circulation in the fingers or toes. * In diabetics, atenolol may block some of the warning signs of low blood sugar (hypoglycemia), such as rapid pulse rate, but not others, such as dizziness or sweating. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor. A pulse rate that is too slow may cause circulation problems. * Atenolol may affect your body's response to exercise. Make sure you discuss with your doctor a safe amount of exercise for your medical condition. * It is important that you do not stop taking this medicine without first checking with your doctor. Some conditions may become worse when the medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may want you to gradually reduce the amount of medicine you take before stopping completely. Make sure that you have enough medicine on hand to last through vacations, and holidays. * Before having surgery or any other medical or dental treatment, tell the physician or dentist that you are taking this medicine. Often, this medication will be discontinued 48 hours prior to any major surgery. * This medicine can cause dizziness, drowsiness, light-headedness, or decreased alertness. Therefore, exercise caution while driving a car or using any potentially dangerous equipment. * While taking this medicine, do not use any over-the-counter (nonprescription) asthma, allergy, cough, cold, sinus, or diet preparations unless you first check with your pharmacist or doctor. Some of these medicines can cause high blood pressure when taken at the same time as a beta blocker. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. Adequate studies have not been done in humans, but there has been some association between beta blockers used during pregnancy and low birth weight, as well as breathing problems and slow heart rate in the newborn infants. However, other reports have shown no effects on newborn infants. Also, tell your doctor if you are breast-feeding an infant. Small amounts of atenolol may pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Tenormin 50 mg,Tenormin 100 mg 0303701.scf,0303702.scf atenolol5 logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials "pagetitle atenolol 03038.TXT `,Y,Copyright (C) 1993 Publications International, Ltd. atenolol and chlorthalidone combination _________________________ BRAND NAME (Manufacturer) Tenoretic (ICI Pharma) TYPE OF DRUG Beta-adrenergic blocking agent and diuretic INGREDIENTS atenolol and chlorthalidone DOSAGE FORM Tablets (50 mg atenolol and 25 mg chlorthalidone; 100 mg atenolol and 25 mg chlorthalidone) STORAGE Atenolol and chlorthalidone combination tablets should be stored at room temperature in a tightly closed, light-resistant container. The tablets should be protected from moisture during storage. Atenolol and chlorthalidone combination is prescribed to treat high blood pressure. Chlorthalidone is a diuretic, which reduces fluid accumulation in the body by increasing the elimination of salt and water through the kidneys. Atenolol belongs to a group of medicines known as beta-adrenergic blocking agents or, more commonly, beta blockers. They work by controlling impulses along certain nerve pathways, thereby decreasing the workload on the heart and lowering blood pressure. TREATMENT This medication can be taken with a glass of water, with meals, immediately following meals, or on an empty stomach, depending on your doctor's instructions. Try to take the medication at the same time(s) each day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. Atenolol and chlorthalidone combination does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Anxiety, constipation, cramps, decreased sexual ability, diarrhea, difficulty in sleeping, dizziness, drowsiness, dryness of the eyes and skin, gas, headache, heartburn, loss of appetite, nervousness, restlessness, stomach discomfort, sweating, or tiredness. These side effects should disappear as your body adjusts to the medication. Chlorthalidone can cause increased sensitivity to sunlight. It is important, therefore, to avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and sunglasses, and use an effective sunscreen. If you become extra-sensitive to the cold, be sure to dress warmly during cold weather. Plain, nonmedicated eye drops (artificial tears) may help to relieve eye dryness. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) unless your doctor directs you to do otherwise. Sucking on ice chips or chewing sugarless gum helps to relieve mouth and throat dryness. To avoid dizziness or light-headedness when you stand that may be a result of taking atenolol and chorthalidone combination, contract and relax the muscles of your legs for a few moments before rising. Do this by alternately pushing one foot against the floor while raising the other foot slightly, so that you are "pumping" your legs in a pedaling motion. This will increase the blood flow through your body. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, cold hands and feet, confusion, depression, difficulty in breathing, dry mouth, excessive thirst, excessive weakness, fever, hair loss, hallucinations, itching, joint pain, mood changes, muscle pain or spasms, nausea, nightmares, numbness or tingling in the fingers or toes, palpitations, rapid weight gain (three to five pounds within a week), reduced alertness, ringing in the ears, skin rash, sore throat, swelling, unusual bleeding or bruising, vomiting, or yellowing of the eyes or skin. INTERACTIONS Atenolol and chlorthalidone combination can interact with other types of medications: 1. Indomethacin, aspirin, and other salicylates may decrease the blood-pressure-lowering effects of beta blockers. 2. Concurrent use of atenolol and calcium channel blockers (diltiazem, nifedipine, verapamil) or disopyramide can lead to heart failure or very low blood pressure. 3. Cimetidine can increase blood levels of atenolol, resulting in greater side effects. Side effects may also be increased when atenolol is taken with clonidine, digoxin, epinephrine, phenylephrine, phenylpropanolamine, phenothiazine tranquilizers, prazosin, reserpine, oral contraceptives (birth control pills), or monoamine oxidase (MAO) inhibitors. At least 14 days should separate the use of atenolol and the use of an MAO inhibitor. 4. Atenolol can antagonize (act against) the effects of theophylline, aminophylline, albuterol, isoproterenol, metaproterenol, and terbutaline. 5. Alcohol, barbiturates, and rifampin can decrease blood levels of beta blockers, resulting in decreased effectiveness. 6. The action of beta blockers may be increased if they are used with chlorpromazine, furosemide, or hydralazine, which may have a negative effect. 7. Atenolol and chlorthalidone can interact with insulin and oral antidiabetic agents--raising or lowering blood sugar levels and masking the symptoms of low blood sugar. 8. Chlorthalidone can decrease the effectiveness of oral anticoagulants (blood thinners, such as warfarin), antigout medications, and methenamine. 9. Fenfluramine may increase the blood-pressure-lowering effects of this drug, which can be dangerous. 10. Cholestyramine and colestipol can decrease the absorption of chlorthalidone from the gastrointestinal tract. Chlorthalidone should, therefore, be taken one hour before or four hours after a dose of cholestyramine or colestipol (if you have also been prescribed one of these medications). 11. Chlorthalidone may increase the side effects of amphotericin B, calcium supplements, cortisone-like steroids (such as cortisone, dexamethasone, hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D. BE SURE TO TELL YOUR DOCTOR about all of the medications you are currently taking, especially any of the ones listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to atenolol or any other beta blocker (acebutolol, betaxolol, carteolol, esmolol, labetalol, metoprolol, nadolol, penbutolol, pindolol, propranolol, and timolol), to chlorthalidone or other diuretics (such as bendroflumethiazide, benzthiazide, chlorothiazide, cyclothiazide, hydrochlorothiazide, hydroflumethiazide, methyclothiazide, metolozone, polythiazide, quinethazone, trichlormethiazide, and furosemide), or to any sulfa drug, including oral antidiabetic medications and sulfonamide antibiotics. * Tell your doctor if you now have or if you have ever had asthma, diabetes mellitus, heart disease, gout, kidney disease or problems with urination, liver disease, lung disease, pancreatitis, poor circulation in the fingers or toes, systemic lupus erythematosus, or thyroid disease. * Chlorthalidone can cause potassium loss. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, call your doctor. To help prevent this problem, your doctor may have blood tests performed periodically to monitor your potassium levels. To help avoid potassium loss, take this medication with a glass of fresh or frozen orange juice or cranberry juice, or eat a banana every day. The use of a salt substitute also helps to prevent potassium loss. Do not change your diet, until you discuss it with your doctor. Too much potassium may also be dangerous. * While taking this medication, limit your intake of alcohol in order to prevent dizziness and light-headedness. * Do not take any over-the-counter (nonprescription) medications for weight control or for allergy, asthma, cough, cold, or sinus problems unless you first check with your doctor. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This medication can raise blood sugar levels in diabetic patients. Blood sugar should be monitored carefully with blood or urine tests when this medication is being taken. * You may want to check your pulse while taking this medication. If your pulse is much slower than your usual rate (or if it is less than 50 beats per minute), check with your doctor; a pulse rate that slow may cause circulation problems. * Atenolol can affect your body's response to exercise. Make sure that you ask your doctor what an appropriate amount of exercise would be for you, taking into account your medical condition. * Before having surgery or any other medical or dental treatment, tell your doctor or dentist that you are taking this medicine. Often, this medication will be discontinued 48 hours prior to any major surgery. * This medication can cause dizziness, drowsiness, light-headedness, or decreased alertness. Therefore, exercise caution whenever driving a car or operating potentially dangerous equipment. * A doctor does not usually prescribe a "fixed-dose" drug like this as the first choice in the treatment of high blood pressure. Usually the patient first receives each ingredient singly. If there is an adequate response to the fixed dose contained in this product, it can then be substituted. The advantage of a combination product is increased convenience and (often) decreased cost. * It is important that you do not stop taking this medicine unless you first check with your doctor. Some conditions worsen when this medicine is stopped suddenly, and the danger of a heart attack is increased in some patients. Your doctor may, therefore, want you to gradually reduce the amount of medicine you take before stopping completely. Make sure that you have enough medicine on hand to last through vacations, holidays, and weekends. * Be sure to tell your doctor if you are pregnant. Animal studies have shown that some beta blockers can cause problems in pregnancy when used at very high doses. Studies have not been conducted in humans, but there has been some association between use of beta blockers during pregnancy and low birth weight, as well as breathing problems and slow heart rate in newborn infants. However, other reports have shown no effects on newborn infants. Also, tell your doctor if you are breast-feeding an infant. Although problems in humans have not been reported, small amounts of this medication may pass into breast milk, so caution is warranted. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. atenolol and chlorthalidone combination v-pagetitle atenolol and chlorthalidone combination 03039.TXT Copyright (C) 1993 Publications International, Ltd. atropine, scopolamine, hyoscyamine, and phenobarbital combination _________________________ BRAND NAMES (Manufacturers) Barophen (various manufacturers) belladonna alkaloids with phenobarbital (various manufacturers) Donnamor (H.L. Moore) Donna-Sed (Vortech) Donnatal (Robins) Hyosophen (Rugby) Kinesed (Stuart) Malatal (Mallard) Relaxadon (Geneva Generics) Spasmolin (various manufacturers) Spasmophen (Lannett) Spasquid (Geneva Generics) Susano (Halsey) TYPE OF DRUG Anticholinergic and sedative INGREDIENTS atropine, scopolamine, hyoscyamine, and phenobarbital DOSAGE FORMS Tablets (0.0194 mg atropine, 0.0065 mg scopolamine, 0.1037 mg hyoscyamine, and 16.2 mg phenobarbital) Capsules (0.0194 mg atropine, 0.0065 mg scopolamine, 0.1037 mg hyoscyamine, and 16.2 mg phenobarbital) Oral elixir (0.0194 mg atropine, 0.0065 mg scopolamine, 0.1037 mg hyoscyamine, and 16.2 mg phenobarbital, with 23% alcohol) STORAGE The medication should be stored at room temperature (never frozen) in a tightly closed, light-resistant container. Atropine, scopolamine, hyoscyamine, and phenobarbital combination is used to treat stomach and intestinal disorders, motion sickness, lack of bladder control, and premenstrual tension. Atropine, scopolamine, and hyoscyamine belong to a group of drugs known as belladonna alkaloids or anticholinergic agents. These drugs block certain nerve pathways, thereby slowing the gastrointestinal tract and decreasing urination. Phenobarbital is a sedative that acts directly on the brain to slow the activity of the nervous system. TREATMENT Take this medication 30 minutes to one hour before meals (unless your doctor says otherwise). To reduce stomach upset, take it with food or with a glass of water or milk. At least one hour should separate doses of this medication combination and either antacids or antidiarrheal medications--they may prevent gastrointestinal absorption of this drug. Measure the liquid form of this medication carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough. If you miss a dose, don't take the missed dose; just return to your regular dosing schedule. Don't double the next dose. SIDE EFFECTS Minor. Confusion; constipation; decreased sexual desire; dizziness; drowsiness; dry mouth, nose, and throat; headache; insomnia; loss of taste; muscle pain; nausea; nervousness; reduced sweating; sensitivity of eyes to sunlight; vomiting; or weakness. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Chew sugarless gum or suck on ice chips or a piece of hard candy to reduce mouth dryness. Wear sunglasses if your eyes become sensitive to light. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by pushing one foot against the floor while raising the other foot slightly, alternating feet so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, difficulty in breathing, difficulty in urinating, hallucinations, hot and dry skin, palpitations, rash, slurred speech, sore throat, or yellowing of the eyes or skin. INTERACTIONS Atropine, scopolamine, hyoscyamine, and phenobarbital combination interacts with several other types of drugs: 1. This medication can cause extreme drowsiness when combined with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, and pain medications) or with tricyclic antidepressants. 2. Amantadine, antihistamines, haloperidol, monoamine oxidase (MAO) inhibitors, phenothiazine tranquilizers, procainamide, quinidine, and tricyclic antidepressants can increase the side effects of the belladonna alkaloids. At least 14 days should separate the use of this drug and the use of an MAO inhibitor. 3. The phenobarbital content in this drug can decrease the effectiveness of oral anticoagulants (blood thinners, such as warfarin), cortisone-like medications, digoxin, griseofulvin, doxycycline, metronidazole, phenytoin, and tricyclic antidepressants. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to atropine, scopolamine, hyoscyamine, phenobarbital, or to other barbiturates (such as butalbital, primidone, pentobarbital, and secobarbital). * Tell your doctor if you now have or if you have ever had glaucoma, heart disease, hiatal hernia, high blood pressure, internal bleeding, kidney disease, liver disease, lung disease, myasthenia gravis, porphyria, enlarged prostate gland, obstructed bladder, obstructed intestine, ulcerative colitis, or thyroid disease. * If this medication makes you dizzy or drowsy or blurs your vision, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. Be careful on stairs, and avoid getting up from a lying or sitting position suddenly. * This medication can decrease sweating and heat release from the body. Avoid strenuous exercise in hot weather, and avoid taking hot baths, showers, and saunas. * Before having surgery or any other medical or dental treatment, tell the doctor or dentist that you are taking this drug. * Be sure to tell your doctor if you are pregnant. This medication crosses the placenta. Phenobarbital given to the mother close to term can cause breathing problems and bleeding complications in the newborn infant. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication pass into breast milk and may cause excessive drowsiness or irritability in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Donnatal 0303901.scf atropine, scopolamine, hyoscyamine, and phenobarb...l combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle atropine, scopolamine, hyoscyamine, and phenobarbital combination 03008.TXT Copyright (C) 1993 Publications International, Ltd. acetaminophen and codeine combination _________________________ BRAND NAMES (Manufacturers) acetaminophen with codeine (various manufacturers) Aceta with Codeine (Century) Capital with Codeine (Carnrick) Phenaphen-650 with Codeine (Robins) Phenaphen with Codeine (Robins) Tylenol with Codeine (McNeil) Ty-tabs (Major) TYPE OF DRUG Analgesic combination INGREDIENTS acetaminophen and codeine DOSAGE FORMS Tablets (300 mg acetaminophen with 7.5 mg, 15 mg, 30 mg, or 60 mg codeine; 325 mg acetaminophen with 30 mg or 60 mg codeine; 650 mg acetaminophen with 30 mg codeine) Capsules (325 mg acetaminophen with 15 mg, 30 mg, or 60 mg codeine) Oral elixir (120 mg acetaminophen and 12 mg codeine per 5-ml spoonful, with 7% alcohol) On the label of the vial of tablets or capsules, the name of this drug is followed by a number that refers to the amount of codeine present (#1 has 7.5 mg codeine, #2 has 15 mg codeine, #3 has 30 mg codeine, and #4 has 60 mg codeine). STORAGE This medication should be stored at room temperature. It should never be frozen. Acetaminophen and codeine combination is used to relieve mild to severe pain (formulations of this medication with higher codeine contents are used to relieve more severe pain). Codeine is a narcotic analgesic that acts upon on the central nervous system (brain and spinal cord) to relieve pain. TREATMENT In order to avoid stomach upset, you can take this medication with food or milk. This medication works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. Measure the dose of the liquid form of this medication carefully with a specially designed 5-ml measuring spoon. An ordinary kitchen teaspoon is not accurate enough for measuring the dosage. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, painful or difficult urination, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum or suck on ice chips or hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, difficulty in breathing, excitation, fatigue, palpitations, rash, restlessness, sore throat and fever, tremors, unusual bleeding or bruising, weakness, or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. 3. Long-term use and high doses of the acetaminophen portion of this medication can increase the effects of oral anticoagulants (blood thinners, such as warfarin); this combination may lead to bleeding complications. 4. Anticonvulsants (antiseizure medications), barbiturates, and alcohol can increase the liver toxicity caused by large doses of the acetaminophen portion of this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to acetaminophen, codeine, or other narcotic analgesics (such as hydrocodone, hydromorphone, meperidine, methadone, morphine, oxycodone, and propoxyphene). * Tell your doctor if you now have or if you have ever had an acute abdominal condition, asthma, a blood disorder, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, prostate disease, thyroid disease, or urethral strictures. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this product contains codeine, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (diarrhea, excessive yawning, gooseflesh, irritability, muscle aches, nausea, runny nose, shivering, sleep disorders, stomach cramps, sweating, trembling, vomiting, or weakness). Your doctor may, therefore, want to reduce the dosage gradually. * Because this product contains acetaminophen, additional drugs that contain acetaminophen should not be taken without your doctor's approval. Be sure to check the labels on over-the-counter pain, sinus, allergy, asthma, diet, cough, and cold products before you use them in order to see if they contain acetaminophen. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Codeine used regularly in large doses during pregnancy can result in addiction of the fetus, leading to withdrawal symptoms (diarrhea, excessive crying, excessive yawning, irritability, fever, sneezing, tremors, or vomiting) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug may pass into breast milk and cause drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Phenaphen with Codeine #3,Tylenol #1,Tylenol #2,Tylenol #3,Tylenol #4 0300801.scf,0300802.scf,0300803.scf,0300804.scf,0300805.scf acetaminophen and codeine combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField ^ 6 [ Additional Materials pagetitle acetaminophen and codeine combination 03009.TXT Copyright (C) 1993 Publications International, Ltd. acetaminophen and hydrocodone combination _________________________ BRAND NAMES (Manufacturers) Amacodone (Trimen) Bancap HC (Forest) Co-Gesic (Central) Damacet-P (Mason) Dolacet (Hauck) Duradyne DHC (Forest) Hydrogesic (Edwards) Hy-Phen (Ascher) Lortab 5 (Russ) [*] T-Gesic (T.E. Williams) Vicodin (Knoll) Zydone (DuPont) * Available in different strengths TYPE OF DRUG Analgesic combination INGREDIENTS acetaminophen and hydrocodone DOSAGE FORMS Tablets (500 mg acetaminophen with 2.5 mg, 5 mg, or 7.5 mg hydrocodone; 650 mg acetaminophen with 7.5 mg hydrocodone; 750 mg acetaminophen with 7.5 mg hydrocodone) Capsules (500 mg acetaminophen with 5 mg hydrocodone) Liquid (120 mg acetaminophen with 2.5 mg hydrocodone per 5-ml spoonful, with 7% alcohol) STORAGE Acetaminophen and hydrocodone combination tablets, capsules, and liquid should be stored at room temperature in tightly closed, light-resistant containers. This medication is used to relieve moderate to severe pain. Hydrocodone is a narcotic analgesic that acts on the central nervous system (brain and spinal cord) to relieve pain. TREATMENT To avoid stomach upset, take this drug with food or milk. Each dose of the oral liquid form of this medication should be measured carefully with a specially designed 5-ml measuring spoon, not with an ordinary kitchen teaspoon. This medication works most effectively if you take it at the onset of pain, rather than waiting until it becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, painful or difficult urination, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum or suck on ice chips or hard candy. If you feel dizzy, sit or lie down for a while; get up from a sitting or reclining position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, difficulty in breathing, excitation, fatigue, palpitations, rash, restlessness, sore throat and fever, tremors, unusual bleeding or bruising, weakness, or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this drug can lead to severe side effects. 3. Long-term use and high doses of the acetaminophen portion of this medication can increase the effects of oral anticoagulants (blood thinners, such as warfarin); this combination may lead to bleeding complications. 4. Anticonvulsants (antiseizure medications), barbiturates, and alcohol can increase the liver toxicity caused by large doses of the acetaminophen portion of this medication. TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to acetaminophen, hydrocodone, or other narcotic analgesics (such as codeine, hydromorphone, meperidine, methadone, morphine, oxycodone, and propoxyphene). * Tell your doctor if you now have or if you have ever had acute abdominal conditions, asthma, blood disorders, brain disease, colitis, epilepsy, gallstones or gallbladder disease, a head injury, heart disease, kidney disease, liver disease, lung disease, mental illness, prostate disease, thyroid disease, or urethral strictures. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires you to remain alert, such as driving an automobile or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this product contains hydrocodone, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (diarrhea, excessive yawning, gooseflesh, irritability, muscle aches, nausea, runny nose, shivering, sleep disorders, stomach cramps, sweating, trembling, vomiting, or weakness). Your doctor may, therefore, want to reduce the dosage gradually. * Because this product contains acetaminophen, additional medications that contain acetaminophen should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, diet, cough, and cold products to see if they contain acetaminophen. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Regular use of hydrocodone in large doses during pregnancy can result in addiction of the fetus, leading to withdrawal symptoms (diarrhea, excessive crying, excessive yawning, fever, irritability, sneezing, tremors, or vomiting) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Vicodin 0300901.scf acetaminophen and hydrocodone combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle acetaminophen and hydrocodone combination 03010.TXT Copyright (C) 1993 Publications International, Ltd. acetaminophen and oxycodone combination _________________________ BRAND NAMES (Manufacturers) oxycodone hydrochloride with acetaminophen (various manufacturers) Percocet (DuPont) Tylox (McNeil-CPC) TYPE OF DRUG Analgesic combination INGREDIENTS acetaminophen and oxycodone DOSAGE FORM Tablets (325 mg acetaminophen with 5 mg oxycodone; 500 mg acetaminophen with 5 mg oxycodone) STORAGE Acetaminophen and oxycodone tablets should be stored at room temperature in a tightly closed container. Acetaminophen and oxycodone combination is used to relieve moderate to severe pain. Oxycodone is a narcotic analgesic that acts on the central nervous system (brain and spinal cord) to relieve pain. TREATMENT In order to avoid stomach upset, you can take this medication with food or milk. This medication works most effectively if you take it at the onset of pain, rather than waiting until the pain becomes intense. If you are taking this medication on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless it is almost time for your next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, painful or difficult urination, or sweating. These side effects should disappear as your body adjusts to the medication. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce mouth dryness, chew sugarless gum or suck on ice chips or hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or reclining position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, difficulty in breathing, excitation, fatigue, palpitations, rash, restlessness, sore throat and fever, tremors, unusual bleeding or bruising, weakness, or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of this medication with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. 3. Long-term use and high doses of the acetaminophen portion of this medication can increase the effects of oral anticoagulants (blood thinners, such as warfarin); this combination may lead to bleeding complications. 4. Anticonvulsants (antiseizure medications), barbiturates, and alcohol can increase the liver toxicity caused by large doses of the acetaminophen portion of this medication. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to acetaminophen, oxycodone, or other narcotic analgesics (such as codeine, hydrocodone, hydromorphone, meperidine, methadone, morphine, and propoxyphene). * Tell your doctor if you now have or if you have ever had an acute abdominal condition, asthma, blood disorders, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, prostate disease, thyroid disease, or urethral strictures. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this product contains oxycodone, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually. * Because this product contains acetaminophen, additional medications that contain acetaminophen should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, diet, cough, and cold products to see if they contain acetaminophen. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Oxycodone, used regularly in large doses during pregnancy, can result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Percocet,Tylox 0301001.scf,0301002.scf acetaminophen and oxycodone combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle acetaminophen and oxycodone combination 03011.TXT Copyright (C) 1993 Publications International, Ltd. acetaminophen and propoxyphene combination _________________________ BRAND NAMES (Manufacturers) Darvocet-N 50 (Lilly) Darvocet-N 100 (Lilly) Dolene AP-65 (Lederle) Genagesic (Goldline) Propacet 100 (Lemmon) propoxyphene hydrochloride with acetaminophen (various manufacturers) propoxyphene napsylate with acetaminophen (various manufacturers) Wygesic (Wyeth) TYPE OF DRUG Analgesic combination INGREDIENTS acetaminophen and propoxyphene DOSAGE FORMS Tablets (325 mg acetaminophen with 50 mg propoxyphene napsylate; 650 mg acetaminophen with 100 mg propoxyphene napsylate; 650 mg acetaminophen with 6 mg propoxyphene hydrochloride) Capsules (650 mg acetaminophen with 65 mg propoxyphene hydrochloride) STORAGE Acetaminophen and propoxyphene combination tablets and capsules should be stored at room temperature in tightly closed containers. This medication is used to relieve moderate to severe pain. Propoxyphene is a narcotic analgesic that acts on the central nervous system (brain and spinal cord) to relieve pain. TREATMENT In order to avoid stomach upset, you can take this medication with food or milk. This medication works best if you take it at the onset of pain, rather than waiting until the pain becomes intense. If you are taking this acetaminophen and propoxyphene combination on a regular schedule and you miss a dose, take the missed dose as soon as possible, unless you are nearing the time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. It is important that you do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, drowsiness, dry mouth, false sense of well-being, flushing, light-headedness, loss of appetite, nausea, painful or difficult urination, or sweating. These side effects should disappear as your body adjusts to the drug. If you are constipated, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To reduce excessive mouth dryness, you may want to chew sugarless gum or you may want to suck on ice chips or hard candy. If you feel dizzy or light-headed, sit or lie down for a while; get up from a sitting or lying position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, difficulty in breathing, excitation, fatigue, palpitations, rash, restlessness, sore throat and fever, tremors, unusual bleeding or bruising, weakness, or yellowing of the eyes or skin. INTERACTIONS This medication interacts with several other types of drugs: 1. Concurrent use of acetaminophen and propoxyphene combination with other central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, and phenothiazine tranquilizers) or with tricyclic antidepressants can possibly cause extreme drowsiness. 2. A monoamine oxidase (MAO) inhibitor taken within 14 days of this medication can lead to unpredictable and severe side effects. 3. Long-term use and high doses of acetaminophen can increase the effects of oral anticoagulants (blood thinners, such as warfarin), which may lead to bleeding complications. 4. Anticonvulsants (antiseizure medication), barbiturates, and alcohol can increase the liver toxicity caused by large doses of the acetaminophen portion of this medication. 5. The propoxyphene portion of this medication decreases the elimination of carbamazepine from the body, which can lead to an increase in side effects. Before starting to take this medication, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to acetaminophen, propoxyphene, or other narcotic analgesics (such as codeine, hydrocodone, hydromorphone, meperidine, methadone, morphine, and oxycodone). * Tell your doctor if you now have or if you have ever had an acute abdominal condition, asthma, blood disorders, brain disease, colitis, epilepsy, gallstones or gallbladder disease, head injuries, heart disease, kidney disease, liver disease, lung disease, mental illness, prostate disease, thyroid disease, or urethral strictures. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car. * Before having surgery or any other medical or dental treatment, be sure to tell your doctor or dentist that you are taking this medication. * Because this product contains propoxyphene, it has the potential for abuse and must be used with caution. Usually, it should not be taken on a regular schedule for longer than ten days at a time. Tolerance develops quickly; do not increase the dosage or stop taking the drug abruptly unless you first consult your doctor. If you have been taking large amounts of this medication for long periods, you may experience a withdrawal reaction (muscle aches, diarrhea, gooseflesh, runny nose, nausea, vomiting, shivering, trembling, stomach cramps, sleep disorders, irritability, weakness, excessive yawning, or sweating). Your doctor may, therefore, want to reduce the dosage gradually to prevent or minimize this response. * Because this product contains acetaminophen, additional medications that contain acetaminophen should not be taken without your doctor's approval. Check the labels on over-the-counter (nonprescription) pain, sinus, allergy, asthma, diet, cough, and cold products to see if they contain acetaminophen. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans. Propoxyphene used regularly in large doses during pregnancy can result in addiction of the fetus, leading to withdrawal symptoms (irritability, excessive crying, tremors, fever, vomiting, diarrhea, sneezing, or excessive yawning) at birth. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this medication may pass into breast milk and cause excessive drowsiness in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Darvocet-N 50 0301101.scf1 acetaminophen and propoxyphene combination logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle acetaminophen and propoxyphene combination 03012.TXT Copyright (C) 1993 Publications International, Ltd. acetazolamide _________________________ BRAND NAMES (Manufacturers) acetazolamide (various manufacturers) AK-Zol (Akorn) Dazamide (Major) Diamox (Lederle) Diamox Sequels (Lederle) TYPE OF DRUG Carbonic anhydrase inhibitor INGREDIENT acetazolamide DOSAGE FORMS Tablets (125 mg and 250 mg) Sustained-release capsules (500 mg) STORAGE Acetazolamide tablets and capsules should be stored at room temperature in tightly closed containers. This medication is used to treat glaucoma, epilepsy, and edema (fluid retention) and to prevent or treat the symptoms of mountain sickness. TREATMENT In order to avoid stomach irritation, you can take acetazolamide with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). The sustained-release form of this medication should be swallowed whole. Chewing, crushing, or breaking these capsules destroys their sustained-release activity and possibly increases the side effects. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Confusion, drowsiness, increased urination, loss of appetite, or a tingling feeling. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about back pain; bloody or black, tarry stools; blurred vision; convulsions; difficult or painful urination; fever; rash; unusual bleeding or bruising; or yellowing of the eyes or skin. INTERACTIONS Acetazolamide interacts with other types of medications: 1. Acetazolamide can decrease the excretion through the kidneys of amphetamines, ephedrine, flecainide, mexiletine, pseudoephedrine, tocainide, and quinidine, which can lead to an increased risk of side effects with these medications. Acetazolamide can also increase the side effects (to the bones) of phenobarbital, phenytoin, and primidone. 2. Dosage adjustments of insulin or oral antidiabetic medications may be necessary when this medication is started. 3. The therapeutic benefits of methenamine, methotrexate, lithium, or large doses of aspirin may be decreased by acetazolamide. Before starting to take acetazolamide tablets or capsules, BE SURE TO TELL YOUR DOCTOR about any medications that you are currently taking, especially any of the medications that are listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to acetazolamide, methazolamide, sulfonamide antibiotics, diuretics (water pills), oral antidiabetics, dapsone, sulfone, or sulfoxone. * Before starting to take this medication, be sure to tell your doctor if you now have or if you have ever had acidosis, Addison's disease (underactive adrenal gland), chronic lung disease, diabetes mellitus, electrolyte disorders, gout, kidney disease, or liver disease. * If this drug makes you dizzy or drowsy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Although several generic versions of this drug are available, you should not switch from one brand to another without your doctor's or pharmacist's approval. Not all of these products are equivalent. * Tolerance to this drug can develop quickly. Check with your doctor if you feel this drug is losing effectiveness. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe in humans, birth defects have been reported in the offspring of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known whether acetazolamide passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. acetazolamide pagetitle acetazolamide 03013.TXT Copyright (C) 1993 Publications International, Ltd. acetohexamide _________________________ BRAND NAMES (Manufacturers) acetohexamide (various manufacturers) Dymelor (Lilly) TYPE OF DRUG Oral antidiabetic INGREDIENT acetohexamide DOSAGE FORM Tablets (250 mg and 500 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Acetohexamide is used for the treatment of diabetes mellitus (sugar diabetes) that appears in adulthood and cannot be managed by control of diet alone. This type of diabetes is known as non-insulin-dependent diabetes (sometimes called maturity-onset or Type II diabetes). Acetohexamide lowers blood sugar by increasing the release of insulin from the pancreas. TREATMENT In order for this medication to work correctly, it must be taken as directed by your doctor. It is best to take this medicine at the same time each day in order to maintain a constant blood sugar level. It is important, therefore, to try not to miss any doses of this medication. If you do miss a dose, take it as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. Tell your doctor if you feel any side effects from missing a dose of this drug. Diabetics who are taking oral antidiabetic medication may need to be switched to insulin if they develop diabetic coma, have a severe infection, are scheduled for major surgery, or become pregnant. SIDE EFFECTS Minor. Diarrhea, headache, heartburn, loss of appetite, nausea, vomiting, or stomach pain or discomfort. These side effects usually disappear during treatment, as your body adjusts to the medication. Acetohexamide may increase your sensitivity to sunlight. It is, therefore, important to use caution during exposure to the sun. You may want to wear protective clothing and sunglasses. Use an effective sunscreen, and avoid exposure to sunlamps. Major. If any of the side effects you experience are persistent or particularly bothersome, it is important to notify your doctor. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about dark urine, fatigue, itching of the skin, light-colored stools, rash, sore throat and fever, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Acetohexamide interacts with a number of other types of medications: 1. When combined with acetohexamide, chloramphenicol, fenfluramine, guanethidine, insulin, miconazole, monoamine oxidase (MAO) inhibitors, oxyphenbutazone, oxytetracycline, phenylbutazone, probenecid, aspirin or other salicylates, sulfinpyrazone, and sulfonamide antibiotics can lower blood sugar levels--sometimes to dangerously low levels. 2. When combined with acetohexamide, thyroid hormones, dextrothyroxine, epinephrine, phenytoin, thiazide diuretics (water pills), and cortisone-like medications (such as dexamethasone, hydrocortisone, and prednisone) can actually increase blood sugar levels. 3. Rifampin can decrease the blood concentrations of acetohexamide, which can lead to a decrease in its effectiveness. 4. Oral antidiabetic medications can increase the effects of warfarin, which can lead to bleeding complications. 5. Beta-blocking medications (such as acebutolol, atenolol, labetalol, metoprolol, nadolol, pindolol, propranolol, and timolol) combined with acetohexamide can result in either high or low blood sugar levels. Beta blockers can also mask the symptoms of low blood sugar, which can be dangerous. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * It is important to tell your doctor if you have ever had an unusual or allergic reaction to this medicine or to any other medications, particularly acetazolamide, sulfonamide antibiotics, diuretics (water pills), and other oral antidiabetics. * It is also important to tell your doctor if you now have or have ever had kidney disease, liver disease, severe infection, or thyroid disease. * Follow the special diet that your doctor gave you. This is an important part of controlling your blood sugar and is necessary in order for this medicine to work properly. * Avoid drinking alcoholic beverages while taking this medication (unless otherwise directed by your doctor). Some patients who take this medicine suffer nausea, vomiting, dizziness, stomach pain, pounding headache, sweating, and redness of the face and skin when they drink alcohol. Also, large amounts of alcohol can lower blood sugar to dangerously low levels. * Be sure to tell your doctor or dentist that you are taking this medicine before having surgery or any other medical or dental treatment. * Test for sugar in your urine as directed by your doctor. It is a convenient way to determine whether your diabetes is being controlled by this medicine. * Eat or drink something containing sugar right away if you experience any symptoms of low blood sugar (anxiety, chills, cold sweats, cool or pale skin, drowsiness, excessive hunger, headache, nausea, nervousness, rapid heartbeat, shakiness, unusual tiredness, weakness). It is important that your family and friends know how to recognize the symptoms of low blood sugar and know what to do if they should observe any of these symptoms occuring in you. Even if the symptoms of low blood sugar are corrected by eating or drinking sugar, it is important to contact your doctor as soon as possible after experiencing them. The blood-sugar-lowering effects of this medicine can last for hours, and the symptoms of low blood sugar may return during this period. Good sources of sugar are orange juice, corn syrup, honey, sugar cubes, and ordinary table sugar. You are at greatest risk of developing low blood sugar if you skip or delay meals, if you exercise more than usual, if you cannot eat because you are experiencing nausea or vomiting, or if you drink large amounts of alcoholic beverages. * Be sure to tell your doctor if you are pregnant. Studies in animals have shown that this type of medicine can cause birth defects. Studies have not been conducted in humans, however. It is also important to tell your doctor if you are breast-feeding an infant. Small amounts of acetohexamide may pass into your breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Dymelor 0301301.scf acetohexamide logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle acetohexamide 03014.TXT Copyright (C) 1993 Publications International, Ltd. acyclovir (topical) _________________________ BRAND NAME (Manufacturer) Zovirax (Burroughs Wellcome) TYPE OF DRUG Antiviral INGREDIENT acyclovir DOSAGE FORM Ointment (5%) STORAGE Acyclovir ointment should be stored in a cool, dry place. Acyclovir is used to treat genital herpes and herpes infections of the skin. Acyclovir prevents the growth and multiplication of the Herpes virus. This drug does not cure a herpes infection, but may relieve the pain associated with the viral infection and may shorten its duration. TREATMENT Apply acyclovir as soon as possible after the symptoms of a herpes infection appear. Wash the infected area with soap and water, and allow it to dry. To avoid spreading the infection, use a rubber glove or a finger cot to apply the ointment. Apply enough acyclovir to cover the entire area of the infection. Complete the full course of therapy (usually about ten days), even if your symptoms disappear sooner. If you miss a dose of this medication, apply the missed dose as soon as possible. However, if you do not remember until it is almost time for the next dose, do not apply the missed dose at all; just return to your regular dosing schedule. Do not use a double dose of the medication at the next application. SIDE EFFECTS Minor. You may experience temporary pain, burning, stinging, itching, or rash when this medication is applied. This sensation should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. INTERACTIONS Acyclovir should not interact with other medications if it is used according to directions. WARNINGS * Be sure to tell your doctor about unusual or allergic reactions you have had to any medications. * Acyclovir ointment is intended for use on the skin only; it should not be used in or around the eyes. * Try to avoid sexual activity while you have signs or symptoms of genital herpes; this medication does not prevent the transmission of herpes to other individuals, nor does it prevent recurrences. * This medication has been prescribed for your current infection only. A subsequent infection, or one that someone else has, may require a different medication. Do not use your medication to treat other infections, unless your doctor directs you to do so. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe in animals, studies in humans during pregnancy have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether acyclovir passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. acyclovir (topical) pagetitle acyclovir (topical) 03015.TXT Copyright (C) 1993 Publications International, Ltd. albuterol _________________________ BRAND NAMES (Manufacturers) Albuterol Sulfate (Copley) Proventil (Schering) Ventolin (Glaxo) TYPE OF DRUG Bronchodilator INGREDIENT albuterol DOSAGE FORMS Tablets (2 mg and 4 mg) Inhalation aerosol (each spray delivers 90 mcg) Inhalation solution (0.5%) Oral syrup (2 mg per 5-ml spoonful) STORAGE Albuterol tablets and oral syrup should be stored at room temperature in a tightly closed, light-resistant container. The inhalation aerosol should be stored away from excessive heat--the contents are pressurized and can explode if heated. Albuterol is used to relieve wheezing and shortness of breath caused by lung diseases such as asthma, bronchitis, and emphysema. This drug acts directly on the muscles of the bronchi (breathing tubes) to relieve bronchospasms (muscle contractions of the bronchi), which allows air to move more freely to and from the lungs. TREATMENT To lessen stomach upset, take albuterol tablets and oral syrup with food (unless your doctor directs you to do otherwise). Each dose of oral syrup should be measured carefully with a 5-ml measuring spoon designed for that purpose. Ordinary kitchen teaspoons are not accurate enough. The inhalation aerosol form of this medication is usually packaged with an instruction sheet. Read the directions carefully before using this medication. You may wish to consult your doctor or pharmacist about the proper administration of this drug. The container should be shaken well just before each use. The contents tend to settle on the bottom, so it is necessary to shake the bottle in order to distribute the ingredients evenly and equalize the doses. If more than one inhalation is necessary, wait at least one full minute between doses, in order to receive the full benefit of the first dose. If you miss a dose of this medication and remember within an hour, take the missed dose immediately; then follow your regular dosing schedule for the next dose. If you miss the dose by more than an hour, just wait until the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Anxiety, dizziness, flushing, headache, insomnia, irritability, loss of appetite, muscle cramps, nausea, nervousness, restlessness, sweating, tremors, vomiting, weakness, or dryness or irritation of the mouth or throat (from the inhalation aerosol). These side effects should disappear as your body adjusts to the medication. To help prevent dryness or irritation of the mouth or throat, rinse your mouth with water after each dose of the inhalation aerosol. In order to avoid difficulty in falling asleep, check with your doctor to see if you can take the last dose of this medication several hours before bedtime each day. If you feel dizzy, sit or lie down for a while; get up from a sitting or reclining position slowly, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about chest pain, difficult or painful urination, itching, palpitations, or rash. INTERACTIONS Albuterol interacts with several other types of drugs: 1. The beta blockers (acebutolol, atenolol, labetalol, metoprolol, nadolol, pindolol, propranolol, timolol) antagonize (act against) this medication, decreasing its effectiveness. 2. Monoamine oxidase (MAO) inhibitors, tricyclic antidepressants, antihistamines, levothyroxine, and over-the-counter (nonprescription) cough, cold, asthma, allergy, diet, and sinus medications may increase the side effects of this medication. 3. There may be a change in the dosage requirements of insulin or oral antidiabetic medications when albuterol is started. 4. The blood-pressure-lowering effects of guanethidine may be decreased by this medication. 5. The use of albuterol with other bronchodilator drugs (either oral or inhalant drugs) can have additive side effects. Discuss this with your doctor. BE SURE TO TELL YOUR DOCTOR about any medications you are taking, especially any listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to medications, especially to albuterol or any related drug (metaproterenol, terbutaline, amphetamines, ephedrine, epinephrine, isoproterenol, norepinephrine, phenylephrine, phenylpropanolamine, pseudoephedrine). * Tell your doctor if you now have or if you have ever had diabetes mellitus, an enlarged prostate gland, epilepsy, glaucoma, heart disease, high blood pressure, or thyroid disease. * This medication can cause dizziness. Your ability to perform tasks that require alertness, such as driving a car or operating potentially dangerous equipment, may be decreased. Appropriate caution should, therefore, be taken. * Before having surgery or any other medical or dental treatment, be sure to tell the doctor or dentist that you are taking this medication. * Do not exceed the recommended dosage of this medication; excessive use may lead to an increase in side effects or a loss of effectiveness. * Avoid contact of the aerosol inhalation with your eyes. * Do not puncture, break, or burn the aerosol container. The contents are under pressure and may explode. * Contact your doctor if you do not respond to the usual dose of this medication. It may be a sign of worsening asthma, which may require additional therapy. * Be sure to tell your doctor if you are pregnant. The effects of this medication during pregnancy have not been thoroughly studied in humans, but it has caused side effects in the offspring of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. It is not known if albuterol passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Proventil 2 mg,Proventil 4 mg,Ventolin 2 mg,Ventolin 4 mg 0301501.scf,0301502.scf,0301503.scf,0301504.scfA albuterol logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle albuterol 03016.TXT Copyright (C) 1993 Publications International, Ltd. allopurinol _________________________ BRAND NAMES (Manufacturers) allopurinol (various manufacturers) Lopurin (Boots) Zurinol (Major) Zyloprim (Burroughs Wellcome) TYPE OF DRUG Antigout INGREDIENT allopurinol DOSAGE FORM Tablets (100 mg and 300 mg) STORAGE Allopurinol tablets should be stored at room temperature in a tightly closed container. This medication is used to treat chronic gout and to lower blood uric acid levels. Allopurinol blocks the body's production of uric acid. Allopurinol should not be used to treat acute gout attacks. TREATMENT In order to avoid stomach irritation, you can take allopurinol with food or with a full glass of water or milk. It may take one to three weeks before the full effects of this medication are observed. Drink at least ten to 12 glasses (eight ounces each) of fluids per day while taking this medication in order to prevent the formation of kidney stones. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Diarrhea, drowsiness, nausea, stomach upset, or vomiting. These side effects should disappear as your body adjusts to the medication. Major. Tell your doctor about any side effects that are persistent or particularly bothersome that may be the result of this medication. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred vision, chills, difficult or painful urination, fatigue, fever, loss of hair, muscle aches, numbness or tingling sensations, paleness, rash, sore throat, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Allopurinol interacts with several other types of drugs: 1. Alcohol, diuretics (water pills), and pyrazinamide can increase blood uric acid levels, thus decreasing the effectiveness of allopurinol. 2. Allopurinol can increase the body's store of iron salts, which can lead to iron toxicity. 3. When combined with allopurinol, ampicillin can increase the chance of skin rash; thiazide diuretics and captopril can increase the chance of allergic reactions; and cyclophosphamide can increase the chance of blood disorders. Allopurinol can also increase the blood levels and side effects of mercaptopurine, azathioprine, oral anticoagulants (blood thinners, such as warfarin), and theophylline. 4. Vitamin C can make the urine acidic, which can increase the risk of kidney stone formation with allopurinol. Before starting to take allopurinol, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to allopurinol. * Tell your doctor if you now have or if you have ever had blood disorders, kidney disease, or liver disease. Also, tell your doctor if you have a relative with idiopathic hemochromatosis (a disorder of iron metabolism). * This drug may cause dizziness or drowsiness. Do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Be sure to tell your doctor if you are pregnant. Although this drug appears to be safe in animals, studies in pregnant women have not been conducted. Also, tell your doctor if you are breast-feeding an infant. It is not known whether allopurinol passes into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Zyloprim 100 mg,Zyloprim 300 mg 0301601.scf,0301602.scf/ allopurinol logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle allopurinol 03017.TXT Copyright (C) 1993 Publications International, Ltd. alprazolam _________________________ BRAND NAME (Manufacturer) Xanax (Upjohn) TYPE OF DRUG Benzodiazepine sedative/hypnotic INGREDIENT alprazolam DOSAGE FORM Tablets (0.25 mg, 0.5 mg, 1 mg, and 2 mg) STORAGE This medication should be stored at room temperature in a tightly closed, light-resistant container. Alprazolam is prescribed to treat symptoms of anxiety and anxiety associated with depression. It may work by acting as a depressant of the central nervous system. This drug is currently used by many people to relieve nervousness. It is effective for this purpose for short periods, but it is important to try to remove the cause of the anxiety as well. TREATMENT This drug should be taken exactly as directed by your doctor. It can be taken with food or a full glass of water if stomach upset occurs. Do not take this drug with antacids, as they may retard its absorption from the gastrointestinal tract. If you are taking this medication regularly and you miss a dose, take the missed dose immediately if you remember within an hour of the scheduled dose. If more than an hour has passed, skip the dose you missed and wait for the next scheduled dose. Do not double the dose. SIDE EFFECTS Minor. Bitter taste in mouth, constipation, diarrhea, dizziness, drowsiness (after a night's sleep), dry mouth, excessive salivation, fatigue, flushing, headache, heartburn, loss of appetite, nausea, nervousness, sweating, or vomiting. As you adjust to the drug, these effects should disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips. If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about blurred or double vision, chest pain, severe depression, difficulty in urinating, fainting, falling, fever, hallucinations, joint pain, mouth sores, nightmares, palpitations, rash, shortness of breath, slurred speech, sore throat, uncoordinated movements, unusual excitement, unusual tiredness, or yellowing of the eyes or skin. INTERACTIONS Alprazolam interacts with several other types of drugs: 1. To prevent oversedation, this drug should not be taken with alcohol, other sedative drugs, central nervous system depressants (such as antihistamines, barbiturates, muscle relaxants, pain medications, narcotics, medicines for seizures, and phenothiazine tranquilizers), or antidepressant medications. 2. This medication may decrease the effectiveness of carbamazepine, levodopa, and oral anticoagulants (blood thinners) and may increase the side effects of phenytoin. 3. Disulfiram, oral contraceptives (birth control pills), isoniazid, and cimetidine can increase the blood levels of alprazolam, which can lead to toxic effects. 4. Concurrent use of rifampin may decrease the effectiveness of alprazolam. Before starting to take alprazolam, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to alprazolam or other benzodiazepine tranquilizers (such as chlordiazepoxide, clorazepate, diazepam, flurazepam, halazepam, lorazepam, oxazepam, prazepam, temazepam, or triazolam). * Tell your doctor if you now have or if you have ever had liver disease, kidney disease, epilepsy, lung disease, myasthenia gravis, narrow-angle glaucoma, porphyria, mental depression, mental illness, or sleep apnea. * This medicine can cause drowsiness. Avoid tasks that require mental alertness, such as driving a car or using potentially dangerous equipment. * This medication has the potential for abuse and must be used with caution. Tolerance may develop quickly; do not increase the dosage of the drug without first consulting your doctor. It is also important not to stop this drug suddenly if you have been taking it in large amounts or if you have used it for several weeks. Your doctor may want to reduce the dosage gradually. * This is a safe drug when used properly. When it is combined with other sedative drugs or alcohol, however, serious side effects can develop. * Be sure to tell your doctor if you are pregnant. This medicine may increase the chance of birth defects if it is taken during the first three months of pregnancy. In addition, too much use of this medicine during the last six months of pregnancy may result in addiction of the fetus--leading to withdrawal side effects in the newborn. Also, use of this medicine during the last weeks of pregnancy may cause drowsiness, slowed heartbeat, and breathing difficulties in the infant. Also, tell your doctor if you are breast-feeding an infant. This medicine can pass into breast milk and cause excessive drowsiness, slowed heartbeat, and breathing difficulties in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Xanax .25 mg,Xanax .5 mg,Xanax 1 mg 0301701.scf,0301702.scf,0301703.scf alprazolam' logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle alprazolam 03018.TXT Copyright (C) 1993 Publications International, Ltd. amantadine _________________________ BRAND NAMES (Manufacturers) amantadine hydrochloride (various manufacturers) Symadine (Reid-Rowell) Symmetrel (DuPont) TYPE OF DRUG Antiparkinsonism agent and antiviral INGREDIENT amantadine DOSAGE FORMS Capsules (100 mg) Oral syrup (50 mg per 5-ml spoonful) STORAGE Amantadine should be stored at room temperature (never frozen) in a tightly closed container. This medication should never be frozen. Amantadine is used to treat the symptoms of Parkinson's disease and to prevent or treat respiratory tract infections caused by influenza A virus. It is thought to relieve the symptoms of Parkinson's by increasing the levels of dopamine, an important chemical in the brain, which is lacking in these patients. Amantadine is also an antiviral agent that slows the growth of the influenza virus. TREATMENT Amantadine can be taken on an empty stomach or with food or milk. Each dose of the oral syrup should be measured carefully with a specially designed 5-ml measuring spoon. If you are taking amantadine to treat a viral infection, you should start taking it as soon as possible after exposure to the infection. Continue to take this medication for the entire time prescribed by your doctor (usually seven to 14 days), even if the symptoms of infection disappear before the end of that period. If you stop taking the drug too soon, the virus is given a chance to continue growing and the infection could recur. Amantadine works best when the level of medicine in your bloodstream is kept constant. Therefore, take the doses at evenly spaced intervals day and night. For example, if you are to take two doses a day, the doses should be spaced 12 hours apart. If you are taking amantadine to treat Parkinson's disease, you should know that the full effects of this medication may not become apparent for several weeks. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, don't take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose. SIDE EFFECTS Minor. Constipation, dizziness, dry mouth, fatigue, headache, insomnia, loss of appetite, nausea, or vomiting. These side effects should gradually disappear. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). If you feel dizzy, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. To relieve mouth dryness, chew sugarless gum or suck on ice chips or hard candy. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety, confusion, convulsions, depression, difficulty urinating, fluid retention, hallucinations, purplish-red spots on the skin, shortness of breath, skin rash, slurred speech, or visual disturbances. INTERACTIONS Amantadine interacts with several other types of drugs: 1. Concurrent use of amantadine and alcohol can lead to dizziness, fainting, and confusion. 2. Phenothiazine tranquilizers and tricyclic antidepressants in combination with amantadine can lead to confusion, hallucinations, and nightmares. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to amantadine. * Before starting to take amantadine, tell your doctor if you now have or if you have ever had epilepsy, heart or blood vessel disease, kidney disease, liver disease, mental disorders, or stomach ulcers. * If this drug makes you dizzy, avoid taking part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * If you are taking amantadine to treat Parkinson's disease, do not stop taking the medication unless you first consult your doctor. Stopping the drug abruptly may lead to a worsening of the disease. Your doctor may, therefore, want to reduce your dosage gradually to prevent this from occurring. In addition, tolerance to the benefits of amantadine can develop in several months. If you notice a loss of effectiveness, CONTACT YOUR DOCTOR. * Be sure to tell your doctor if you are pregnant. Although amantadine appears to be safe in humans, birth defects have been reported in the offspring of animals that received large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of amantadine pass into breast milk and can cause side effects in the nursing infant. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Symmetrel 0301801.scf- amantadineu logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle amantadine 03019.TXT Copyright (C) 1993 Publications International, Ltd. amiloride _________________________ BRAND NAMES (Manufacturers) amiloride (various manufacturers) Midamor (Merck Sharp & Dohme) TYPE OF DRUG Diuretic and antihypertensive INGREDIENT amiloride DOSAGE FORM Tablets (5 mg) STORAGE Amiloride should be stored at room temperature in a tightly closed container. Amiloride is often prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by chronic conditions such as heart failure, cirrhosis of the liver, kidney disease, and the long-term use of some medications. Amiloride reduces fluid accumulation in your body by increasing the elimination of salt and water through the kidneys. It may also be used in conjunction with other diuretics to prevent potassium loss. TREATMENT To decrease stomach irritation, you can take amiloride with a glass of milk or with a meal (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this drug, take the missed dose as soon as possible, unless it is almost time for the next one. In that case, do not take the missed dose at all; just wait until the next scheduled dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you continue to take it. SIDE EFFECTS Minor. Constipation, diarrhea, dizziness, dry mouth, gas, headache, heartburn, loss of appetite, nasal congestion, nausea, sleeping problems, stomach upset, or vomiting. These side effects should disappear in time. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). Dry mouth can be relieved by sucking on ice chips or a piece of hard candy or by chewing sugarless gum. To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising from a sitting position. Do this by alternately pushing one foot against the floor while raising the other foot slightly. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety; black, tarry stools; chest pain; confusion; cough; extreme tiredness or weakness; hair loss; impotence; itching; joint pain; mental depression; muscle aches; muscle cramps; nervousness; palpitations; rash; ringing in the ears; shakiness; shortness of breath; tingling in the fingers, lips, or toes; visual disturbances; or yellowing of the eyes or skin. INTERACTIONS Amiloride interacts with several other types of medications and certain foods: 1. Concurrent use of this medication with spironolactone, triamterene, potassium salts, low-salt milk, salt substitutes, captopril, enalapril, lisinopril, or laxatives may cause serious side effects from hyperkalemia (high levels of potassium in the blood). Check with your physician before using any of these medications or products. 2. Amiloride may increase the side effects of lithium and digoxin. 3. Amiloride may decrease the effectiveness of oral anticoagulants and antigout medications. Before starting to take amiloride, BE SURE TO TELL YOUR DOCTOR about any medications. WARNINGS * Be sure to tell your doctor if you have ever had unusual or allergic reactions to medications, especially to amiloride or any other diuretic. * Tell your doctor if you now have or if you have ever had kidney disease or urination problems, hyperkalemia, diabetes mellitus, liver disease, or acidosis. * Amiloride can cause hyperkalemia (high levels of potassium in the blood). Signs of hyperkalemia include palpitations (rapid or irregular heartbeat); confusion; numbness or tingling in your hands, feet, or lips; anxiety; or unusual tiredness or weakness. In order to avoid this problem, do not alter your diet and do not use salt substitutes unless you first consult your doctor. * While taking this medication, limit your intake of alcoholic beverages in order to prevent dizziness and light-headedness. * Do not take any over-the-counter (nonprescription) medication for weight control or for cough, cold, allergy, asthma, or sinus problems, unless you first check with your doctor. * To prevent severe water loss (dehydration) while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * Be sure to tell your doctor if you are pregnant. This drug crosses the placenta. Although this drug appears to be safe in animals, studies in humans have not been conducted. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. amiloride pagetitle amiloride 03020.TXT Copyright (C) 1993 Publications International, Ltd. amiloride and hydrochlorothiazide combination _________________________ BRAND NAMES (Manufacturers) amiloride with hydrochlorothiazide (various manufacturers) Moduretic (Merck Sharp & Dohme) TYPE OF DRUG Diuretic and antihypertensive INGREDIENTS amiloride and hydrochlorothiazide DOSAGE FORM Tablets (5 mg amiloride and 50 mg hydrochlorothiazide) STORAGE Amiloride and hydrochlorothiazide combination should be stored at room temperature in a tightly closed container. Amiloride and hydrochlorothiazide combination is prescribed to treat high blood pressure. It is also used to reduce fluid accumulation in the body caused by conditions such as heart failure, cirrhosis of the liver, and kidney disease, and by the long-term use of some medications. This medication reduces fluid accumulation by increasing the elimination of salt and water through the kidneys. Amiloride is combined with hydrochlorothiazide to prevent potassium loss from the body. TREATMENT To avoid stomach upset, you can take this medication with food or with a full glass of milk or water (unless your doctor directs you to do otherwise). Try to take it at the same time every day. Avoid taking a dose after 6:00 p.m.; otherwise, you may have to get up during the night to urinate. If you miss a dose of this medication, take the missed dose as soon as possible, unless it is almost time for the next one. In that case, do not take the missed dose at all; just wait until the next scheduled dose. Do not double the dose. This medication does not cure high blood pressure, but it will help to control the condition as long as you take it. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, headache, heartburn, loss of appetite, restlessness, or upset stomach. As your body adjusts to this medication, these side effects should disappear. This medication can cause increased sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps, wear protective clothing, and use an effective sunscreen. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads) and exercise more (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by alternately pushing one foot against the floor while raising the other foot slightly, so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about anxiety; blurred vision; bruising; confusion; difficulty in breathing; dry mouth; excessive thirst; excessive weakness or tiredness; fever; impotence; itching; joint pain; mood changes; muscle spasms; nausea; nervousness; palpitations; skin rash; sore throat; tingling in your fingers, lips, or toes; unusual bleeding; vomiting; or yellowing of the eyes or skin. INTERACTIONS Amiloride and hydrochlorothiazide combination interacts with several other types of medications and certain foods: 1. Concurrent use with triamterene, spironolactone, potassium salts, low-salt milk, salt substitutes, captopril, enalapril, or laxatives can cause serious side effects from hyperkalemia (high levels of potassium in the blood). 2. This drug may decrease the effectiveness of oral anticoagulants, antigout medications, insulin, oral antidiabetic medicines, and methenamine. 3. Indomethacin may decrease the blood-pressure-lowering effects of this drug, which can be dangerous. 4. Fenfluramine may increase the blood-pressure-lowering effects of this drug, which can be dangerous. 5. Cholestyramine and colestipol can decrease the absorption of amiloride and hydrochlorothiazide from the gastrointestinal tract. Therefore, this drug should be taken one hour before or four hours after a dose of cholestyramine or colestipol. 6. The side effects of amphotericin B, calcium, cortisone and cortisone-like steroids (such as hydrocortisone, prednisone, and prednisolone), digoxin, digitalis, lithium, quinidine, sulfonamide antibiotics, and vitamin D may be increased when these drugs are taken concurrently with amiloride and hydrochlorothiazide. TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about unusual or allergic reactions you have had to any medications, especially to amiloride, hydrochlorothiazide, or any other diuretic or to any sulfa drug, including acetazolamide, oral antidiabetic medications, or sulfonamide antibiotics. * Tell your doctor if you now have or if you have ever had kidney disease or problems with urination, diabetes mellitus, gout, liver disease, asthma, pancreatic disease, systemic lupus erythematosus, acidosis, or hyperkalemia. * This drug can occasionally cause potassium loss from the body. Signs of potassium loss include dry mouth, thirst, weakness, muscle pain or cramps, nausea, and vomiting. If you experience any of these symptoms, be sure to call your doctor. * Amiloride can cause hyperkalemia (high levels of potassium in the blood). Signs of hyperkalemia include palpitations (rapid or irregular heartbeat); confusion; numbness or tingling in the hands, feet, or lips; anxiety; and unusual tiredness or weakness. In order to avoid this problem, do not alter your diet and do not use salt substitutes unless your doctor tells you to do so. * While taking this medication, limit your intake of alcoholic beverages in order to prevent dizziness. * Do not take any over-the-counter (nonprescription) medication for weight control or for cough, cold, asthma, allergy, or sinus problems unless you first check with your doctor. * To prevent dehydration while taking this medication, check with your doctor if you have any illness that causes severe or continuous nausea, vomiting, or diarrhea. * This drug can raise the blood sugar level in diabetic patients. Therefore, blood sugar levels should be monitored carefully with blood or urine tests when this drug is being taken. * A doctor does not usually prescribe this drug or other "fixed-dose" products as the first choice in the treatment of high blood pressure. Usually the patient first receives each ingredient singly. If the response is adequate to the fixed dose contained in this product, it can then be substituted. The advantage of a combination product is increased convenience and (often) decreased cost. * Be sure to tell your doctor if you are pregnant. Hydrochlorothiazide crosses the placenta and may cause adverse effects in the developing fetus. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug pass into breast milk. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. amiloride and hydrochlorothiazide combination pagetitle amiloride and hydrochlorothiazide combination 03021.TXT Copyright (C) 1993 Publications International, Ltd. aminophylline _________________________ BRAND NAMES (Manufacturers) aminophylline (various manufacturers) Amoline (Major) Phyllocontin (Purdue Frederick) Somophyllin (Fisons) Somophyllin-DF (Fisons) Truphylline (G & W) TYPE OF DRUG Bronchodilator INGREDIENT aminophylline (theophylline as the ethylenediamine salt) DOSAGE FORMS Tablets (100 mg and 200 mg) Controlled-release tablets (225 mg) Oral liquid (105 mg per 5-ml spoonful) Suppositories (250 mg and 500 mg) Rectal solution (300 mg per 5 ml) STORAGE Aminophylline tablets, liquid, and rectal solution should be stored at room temperature in tightly closed containers. This medication should never be frozen. The suppositories should be stored in a cool place. They can be refrigerated if they become too soft. Aminophylline is used to treat breathing problems (wheezing and shortness of breath) caused by asthma, bronchitis, or emphysema. It relaxes the smooth muscles of the bronchial airways (breathing tubes), thus opening the passages to the lungs and allowing air to move in and out more easily. TREATMENT Aminophylline should be taken on an empty stomach, 30 to 60 minutes before a meal or two hours after a meal. If this medication causes stomach irritation, however, you can take it with food or with a full glass of water or milk (unless your doctor directs you to do otherwise). Aminophylline works best when the level of the medication in your bloodstream is kept constant. It is best, therefore, to take it at evenly spaced intervals day and night. For example, if you are to take four doses a day, the doses should be spaced six hours apart. The controlled-release tablets should be swallowed whole (if the tablet is scored for breaking, you can break it along these lines). Chewing, crushing, or crumbling the tablets destroys their sustained-release activity and possibly increases the side effects. Doses of the oral liquid should be measured carefully with a 5-ml measuring spoon or a cup specially designed for that purpose. Ordinary kitchen spoons are not accurate enough. To use the suppository form of this medication, remove the foil wrapper and moisten the suppository with water (if it is too soft to insert, refrigerate it for half an hour or run cold water over it before removing the wrapper). Lie on your left side with your right knee bent. Push the suppository into the rectum, pointed end first. Lie still for a few minutes. Try to avoid having a bowel movement for at least an hour after inserting the suppository. Aminophylline suppositories can be irritating to rectal tissue. Therefore, they should not be used for prolonged periods. Aminophylline rectal solution is packaged with detailed patient instructions. Be sure to read the instructions before using this medication. If crystals appear in the solution, redissolve the crystals by partially immersing the bottle in warm water. The syringe should be washed after each application. To prevent rectal irritation, do not use this solution continuously for longer than 24 to 36 hours. Try not to miss any doses of this medication. If you do miss a dose, take the missed dose as soon as possible, unless it is almost time for the next dose. In that case, do not take the missed dose at all; just return to your regular dosing schedule. Do not double the next dose of this medication unless your doctor has directed you to do so. SIDE EFFECTS Minor. Diarrhea, dizziness, feeling faint, flushing, headache, heartburn, increased urination, insomnia, irritability, loss of appetite, nausea, nervousness, stomach pain, or vomiting. These side effects should disappear as your body adjusts to the medication. If you feel dizzy or light-headed, sit or lie down for a while; get up slowly from a sitting or reclining position, and be careful on stairs. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about black, tarry stools; confusion; convulsions; difficulty in breathing; muscle twitches; palpitations; rash; severe abdominal pain; or unusual weakness. INTERACTIONS Aminophylline interacts with several other types of medications: 1. It can increase the effects (increased urination) of furosemide. 2. Reserpine in combination with aminophylline can cause a rapid heart rate. 3. Beta blockers (acebutolol, atenolol, labetalol, metoprolol, nadolol, pindolol, propranolol, and timolol) can decrease the effectiveness of aminophylline. 4. Aminophylline can increase the side effects of the following products: over-the-counter (nonprescription) sinus, cough, cold, asthma, allergy, and diet preparations; digoxin; and oral anticoagulants (blood thinners, such as warfarin). 5. Aminophylline can decrease the effectiveness of phenytoin and lithium. 6. Phenobarbital, carbamazepine, and rifampin can increase the elimination of aminophylline from the body, thus decreasing its effectiveness. 7. Cimetidine, erythromycin, troleandomycin, oral contraceptives (birth control pills), allopurinol, and thiabendazole can decrease the elimination of aminophylline from the body, thus increasing its side effects. 8. Antidiarrheal medications prevent the absorption of aminophylline. Therefore, at least one hour should separate doses of these two types of medications. Before starting to take aminophylline, BE SURE TO TELL YOUR DOCTOR about any of the medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor about any unusual or allergic reactions you have had to medications, especially to aminophylline, theophylline, caffeine, dyphylline, oxtriphylline, or theobromine. * Tell your doctor if you now have or if you have ever had an enlarged prostate gland, fibrocystic breast disease, heart disease, kidney disease, low or high blood pressure, liver disease, stomach ulcers, or thyroid disease. * Cigarette or marijuana smoking may affect the action of this drug. Be sure to tell your doctor if you smoke. Also, do not suddenly stop smoking without informing your doctor. * High fever, diarrhea, the flu, and influenza vaccinations can affect the action of this drug. You should tell your doctor about episodes of high fever or prolonged diarrhea. Before having any vaccinations, especially those to prevent the flu, tell your doctor that you are taking this medication. * Avoid drinking large amounts of caffeine-containing beverages (coffee, cocoa, tea, and cola drinks) and avoid eating large amounts of chocolate. These products may increase the side effects of aminophylline. * Do not change your diet without first consulting your doctor. Eating charbroiled foods or a high-protein, low-carbohydrate diet can affect the action of this drug. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Before taking any over-the-counter (nonprescription) asthma, allergy, cough, cold, sinus, or diet products, ask your doctor or pharmacist. These products may add to the side effects of aminophylline. * Be sure to tell your doctor if you are pregnant. Although aminophylline appears to be safe during pregnancy, studies in humans have not been conducted. Birth defects have been observed in the offspring of animals that received large doses of this drug during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of aminophylline pass into breast milk and may cause irritability, fretfulness, or insomnia in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. aminophylline !pagetitle aminophylline 03022.TXT Copyright (C) 1993 Publications International, Ltd. amitriptyline _________________________ BRAND NAMES (Manufacturers) Amitril (Park Davis) amitriptyline hydrochloride (various manufacturers) Elavil (Stuart) Endep (Roche) Enovil (Hauck) TYPE OF DRUG Tricyclic antidepressant INGREDIENT amitriptyline DOSAGE FORM Tablets (10 mg, 25 mg, 50 mg, 75 mg, 100 mg, and 150 mg) STORAGE Store at room temperature in a tightly closed container. Amitriptyline is used to relieve the symptoms of mental depression. This medication belongs to a group of drugs referred to as the tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals necessary for nerve transmission in the brain. TREATMENT This medication should be taken exactly as your doctor prescribes. It can be taken with water or with food to lessen the chance of stomach irritation, unless your doctor tells you to do otherwise. The effects of therapy with this medication may not become apparent for two or three weeks. If you miss a dose of this medication, take the missed dose as soon as possible, and then return to your regular dosing schedule. However, if the dose you missed was a once-a-day bedtime dose, do not take that dose in the morning; check with your doctor instead. If the dose is taken in the morning, it may cause some unwanted side effects. Never double the dose. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, dry mouth, fatigue, heartburn, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. As your body adjusts to the medication, these side effects should disappear. This medication may cause increased sensitivity to sunlight. You should, therefore, avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing and use an effective sunscreen. Amitriptyline may cause your urine to turn blue-green; this effect is harmless. Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips or hard candy. To relieve constipation, increase the amount of fiber in your diet (fresh fruits and vegetables, salads, bran, and whole-grain breads), exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by alternately pushing one foot against the floor while raising the other foot slightly, so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, anxiety, blurred vision, chest pain, confusion, convulsions, difficulty in urinating, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, headaches, impotence, mood changes, mouth sores, nervousness, nightmares, numbness in the fingers or toes, palpitations, ringing in the ears, seizures, skin rash, sleep disorders, sore throat, tremors, uncoordinated movements or balance problems, unusual bleeding or bruising, or yellowing of the eyes or skin. INTERACTIONS Amitriptyline interacts with a number of other types of medications: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants (such as alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications) or with other antidepressants. 2. Amitriptyline may decrease the effectiveness of antiseizure medications and may block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Oral contraceptives (birth control pills) or estrogen-containing drugs can increase the side effects and reduce the effectiveness of the tricyclic antidepressants (including amitriptyline). 4. Cimetidine can decrease the elimination of amitriptyline from the body, thus increasing the possibility of side effects. 5. Tricyclic antidepressants may increase the side effects of thyroid medication and of over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, and weight-control medications. 6. The concurrent use of tricyclic antidepressants and monoamine oxidase (MAO) inhibitors should be avoided because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of amitriptyline and the use of an MAO inhibitor. Before starting to take amitriptyline, BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to medications, especially to amitriptyline or any of the other tricyclic antidepressants (imipramine, doxepin, trimipramine, amoxapine, protriptyline, desipramine, maprotiline, nortriptyline). * Tell your doctor if you have a history of alcoholism, or if you have ever had asthma, diabetes, high blood pressure, liver or kidney disease, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Do not stop taking this drug suddenly. Abruptly stopping it can cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The effects of this medication may last as long as seven days after you have stopped taking it, so continue to observe all precautions during that period. * Be sure to tell your doctor if you are pregnant. Studies have not been done in humans; however, studies in animals have shown that this type of medication can cause side effects to the fetus when given to the mother in large doses during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug can pass into breast milk and may cause unwanted side effects, such as irritability or sleeping problems, in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Elavil,Endep 0302201.scf,0302202.scf amitriptyline logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle amitriptyline 03023.TXT Copyright (C) 1993 Publications International, Ltd. amoxapine _________________________ BRAND NAME (Manufacturer) Asendin (Lederle) TYPE OF DRUG Tricyclic antidepressant INGREDIENT amoxapine DOSAGE FORM Tablets (25 mg, 50 mg, 100 mg, and 150 mg) STORAGE This medication should be stored at room temperature in a tightly closed container. Amoxapine is used to relieve the symptoms of mental depression. This medication belongs to a group of drugs referred to as the tricyclic antidepressants. These medicines are thought to relieve depression by increasing the concentration of certain chemicals necessary for nerve transmission in the brain. TREATMENT This medication should be taken exactly as your doctor prescribes. It can be taken with water or with food to lessen the chance of stomach irritation, unless your doctor tells you to do otherwise. If you miss a dose of this medication, take the missed dose as soon as possible, then return to your regular dosing schedule. However, if the dose you missed was a once-a-day bedtime dose, do not take that dose in the morning; check with your doctor instead. If the dose is taken in the morning, it may cause some unwanted side effects. Never double the dose. SIDE EFFECTS Minor. Constipation, cramps, diarrhea, dizziness, drowsiness, dry mouth, fatigue, heartburn, loss of appetite, nausea, peculiar tastes in the mouth, restlessness, sweating, vomiting, weakness, or weight gain or loss. As your body adjusts to the medication, these side effects should disappear. This medication may cause increased sensitivity to sunlight. Avoid prolonged exposure to sunlight and sunlamps. Wear protective clothing, and use an effective sunscreen. Dry mouth can be relieved by chewing sugarless gum or by sucking on ice chips or hard candy. To relieve constipation, increase the amount of fiber (bran, salads, fresh vegetables and fruits, and whole-grain breads) in your diet, exercise, and drink more water (unless your doctor directs you to do otherwise). To avoid dizziness or light-headedness when you stand, contract and relax the muscles of your legs for a few moments before rising. Do this by alternately pushing one foot against the floor while raising the other foot slightly, so that you are "pumping" your legs in a pedaling motion. Major. Tell your doctor about any side effects that are persistent or particularly bothersome. IT IS ESPECIALLY IMPORTANT TO TELL YOUR DOCTOR about agitation, anxiety, blurred vision, chest pains, confusion, convulsions, difficulty in urinating, enlarged or painful breasts (in both sexes), fainting, fever, fluid retention, hair loss, hallucinations, headaches, impotence, mood changes, mouth sores, nervousness, nightmares, numbness in the fingers or toes, palpitations, ringing in the ears, seizures, skin rash, sleep disorders, sore throat, tremors, uncoordinated movements or balance problems, unusual bleeding, or yellowing of the eyes or skin. INTERACTIONS Amoxapine interacts with a number of other types of drugs: 1. Extreme drowsiness can occur when this medicine is taken with central nervous system depressants, including alcohol, antihistamines, barbiturates, benzodiazepine tranquilizers, muscle relaxants, narcotics, pain medications, phenothiazine tranquilizers, and sleeping medications, or with other antidepressants. 2. Amoxapine may decrease the effectiveness of antiseizure medications and may block the blood-pressure-lowering effects of clonidine and guanethidine. 3. Birth control pills or estrogen-containing drugs can increase the side effects and reduce the effectiveness of the tricyclic antidepressants (including amoxapine). 4. Cimetidine can decrease the elimination of amoxapine from the body, increasing the possibility of side effects. 5. Tricyclic antidepressants may increase the side effects of thyroid medication and over-the-counter (nonprescription) cough, cold, allergy, asthma, sinus, and diet medications. 6. The concurrent use of tricyclic antidepressants and monoamine oxidase (MAO) inhibitors should be avoided, because the combination may result in fever, convulsions, or high blood pressure. At least 14 days should separate the use of amoxapine and the use of an MAO inhibitor. BE SURE TO TELL YOUR DOCTOR about any medications you are currently taking, especially any of those listed above. WARNINGS * Tell your doctor if you have had unusual or allergic reactions to medications, especially to amoxapine or any of the other tricyclic antidepressants (amitriptyline, imipramine, doxepin, trimipramine, protriptyline, desipramine, maprotiline, nortriptyline). * Tell your doctor if you have a history of alcoholism, or if you now have or ever had asthma, high blood pressure, liver or kidney disease, heart disease, a heart attack, circulatory disease, stomach problems, intestinal problems, difficulty in urinating, enlarged prostate gland, epilepsy, glaucoma, thyroid disease, mental illness, or electroshock therapy. * If this drug makes you dizzy or drowsy, do not take part in any activity that requires alertness, such as driving a car or operating potentially dangerous equipment. * Before having surgery or other medical or dental treatment, tell your doctor or dentist you are taking this drug. * Do not stop taking this drug suddenly. Abruptly stopping it can cause nausea, headache, stomach upset, fatigue, or a worsening of your condition. Your doctor may want to reduce the dosage gradually. * The effects of this medication may last as long as seven days after you have stopped taking it, so continue to observe all precautions during that period. * Be sure to tell your doctor if you are pregnant. Studies have not been done in humans; however, studies in animals have shown that this type of medication can cause side effects to the fetus when large doses are given to the mother during pregnancy. Also, tell your doctor if you are breast-feeding an infant. Small amounts of this drug can pass into breast milk and may cause unwanted effects, such as irritability or sleeping problems, in nursing infants. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Asendin 50 mg,Asendin 100 mg 0302301.scf,0302302.scf amoxapine logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials pagetitle amoxapine 02440.TXT pagetitle A Resource About Breast Cancer: Resource List Copyright (c) 1991-92,1993 Tribune Media Services, Inc. A Resource About Breast Cancer: Resource List _________________________ With breast cancer still taking the lives of 44,500 American women each year, and the chances that one out of nine women will develop breast cancer in her lifetime, the fact that October is National Breast Cancer Awareness Month dictates that I make some special information available to you here. It is so important that every woman examine her breasts monthly and that woman over age 40 schedule a mammogram now, for it is the best way to early detection, which affords the best chances for successful treatment. The National Alliance of Breast Cancer Organizations (NABCO) has given me permission to offer you their Breast Cancer Resource List 1993 Edition. This tremendously impressive 37 page packet lists many publications, resource addresses and telephone numbers of immense importance to all. Please write and request your copy from NABCO, Dept. AB, 1180 Avenue of the Americas, Second Floor, New York, NY 10036. A one dollar contribution is requested to cover cost of postage. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem. Breast Self-Examination: Step 1,Breast Self-Examination: Step 2,Breast Self-Examination: Step 3,Breast Self-Examination: Step 4,Breast Self-Examination: Step 5,Breast Self-Examination: Step 6,Monthly Breast Self-Examination 0002602.scf,0002603.scf,0002604.scf,0002605.scf,0002606.scf,0002607.scf,0002608.scf' Breast Cancer: Resource List logField =& "," & mBounds addMaterials "Shows additional materials available" "statusField" FALSE NULL uttonDown mouseEnter buttonDown mouseLeave buttonDown addMaterials mBounds mouseEnter Shows additional materials available statusField mouseLeave statusField Additional Materials 02441.TXT Copyright (c) 1991-92,1993 Tribune Media Services, Inc. A Resource About Family Doctor Relationship _________________________ Before the winter season with its share of colds and accidents begins, now might be a good time to think through your relationship with your own family doctor. October has been designated "Family Health Month" by the 71,000 member American Association of Family Physicians (AAFP), the national association of family doctors. Establishing a good working relationship with your family physician could one day help you to remember "Family Health Month" as a time when your life took a turn for the better. Impossible to do, you say? I surely take a different point of view and offer you the help you may need to get these partnerships started. The AAFP has just published a wonderful new pamphlet that is yours for the asking. Its entitled "10 Tips for a Healthy Partnership with Your Family Physician" and it offers an approach that is both easy and simple. Just reading these bits of good counsel may be just the encouragement you need. Send your request, with a stamped self addressed envelope to "Ten Tips" Public Relations Department, AAFP, 8880 Ward Parkway, Kansas City, MO 64114. And if you are looking for a family doctor in your area, you may include that in your request, too. Just tell them Dr. Bruckheim sent you. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Family Doctor Relationshiper i pagetitle A Resource About Family Doctor Relationship 02442.TXT Copyright (c) 1991-92,1993 Tribune Media Services, Inc. A Resource About Alcohol and Medicines _________________________ Alcoholic beverages are a part of the social scene for most people, frequently imbibed without a second thought as part of a fine meal or business lunch. But when medications also form part of the regular health schedule of an individual, the combination of alcohol and certain medicines may result in undesirable effects. In some cases the action of the medication may be reduced, while in others the effects can be increased to potentially dangerous levels. In all there are about 100 prescription medicines that can produce unwanted effects when mixed with alcohol. That makes a new booklet produced by the National Council on Patient Information and Education (NCPIE) so important for you to read. It is entitled "Alcohol and Medicines: Ask Before You Mix" and it is part of this month's effort to get you to "Talk About Your Medicines". It contains an easy to understand chart that describes the effects of mixing alcohol with various types of medication, as well as the factors that determine how these affects occur. You can obtain your free copy of this brochure by sending your request along with a stamped self addressed business sized envelope to NCPIE, Department AB, 666 Eleventh Street NW, Suite 810, Washington, DC 20001. You will find the information most useful. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem. Alcohol and Medicines pagetitle A Resource About Alcohol and Medicines 02443.TXT Copyright (c) 1991-92,1993 Tribune Media Services, Inc. A Resource About Child Fire Safety _________________________ Each year about 1,200 children die and another 11,400 are injured in fires. Residential fires are the leading cause of death for children in 11 states and the leading danger to children in the home nationwide. The chances of dying in a home fire are cut in half with the presence of a working smoke detector. It is important to teach children fire safety because they do not react to fire like adults. Children are often found dead by fire fighters under beds and in closets, where they have been hiding thinking they were safe from fire. That's why the National SAFE KIDS Campaign has produced a remarkable "Kids Fire Safety Booklet" in a format that is sure to catch the attention of youngsters. It looks like a comic book, but is filled with games, fire facts, activities and tips that help get the message across. It makes great reading for parents and children alike, or, better yet, as a family activity that all can participate in. You can get your copy by sending $1.00 to; Kids' Fire Safety Booklet-SK9, National SAFE KIDS Campaign-PR, 111 Michigan Avenue, NW, Washington, DC 20010-2970. The National SAFE KIDS Campaign is a long term effort to prevent childhood injury, the number one killer of children. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Child Fire Safety pagetitle A Resource About Child Fire Safety 02444.TXT Copyright (c) 1991-92,1993 Tribune Media Services, Inc. A Resource About Medication Tampering _________________________ I still remember the chill that went through me at the first story about tampering with an over-the-counter medication. Everyone was at the mercy of an obviously sick mind, and we were not well prepared to defend ourselves. Panic seemed to spread through the nation, until we were all alerted to the signs and signals that might be observed to reveal that the medications in the package were not as they had been when they left the factory. Unfortunately, the fear of tampering with medication still rears it head from time to time. Much has been done to prevent the recurrence of these incidents. Over-the-counter medicines are now packaged in new and more secure ways that more easily display evidence when tampering occurs. However if you have forgotten all the tips you once knew, write for a free brochure entitled "Tips Against Tampering", USP Dept. of Professional Affairs, 12601 Twinbrook Parkway, Rockville, MD 20852. It contains important information that you need to know. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. Medication Tamperingsold pagetitle A Resource About Medication Tampering 02445.TXT Copyright (c) 1991-92,1993 Tribune Media Services, Inc. A Resource About Alzheimer's Disease _________________________ I recently had the great pleasure of speaking at the 11th Conference on Aging sponsored by the Cambria-Somerset Council for Education of Health Professionals. My topics included "Patient Education" and "Caring for the Care giver", and included many perspectives of these problems that you, my readers, have taught me. Some of the subject matter was based upon my own experiences, both as a physician, and as a son of two living parents. Though I was aware of the statistics, I was amazed at how many lives have been touched by the tragedy of Alzheimer's Disease. After the presentation, I was approached by one person after another, who shared intimate and personal experiences about coping with this disease that robs the mental abilities and treasured memories from loved ones. I know that many of you need more information, and so am calling once again, on my friends at The Will Rogers Institute. They will be happy to send you a most informative and easy to understand brochure "About Alzheimer's Disease". Just forward your request to: Alzheimer Booklet, The Will Rogers Institute, 785 Mamaroneck Ave. White Plains, NY 10605. It is a booklet that can help families who need this information, an will help overcome some of the feelings of desperation that we all share. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem. Alzheimer's Disease pagetitle A Resource About Alzheimer's Disease 02990.TXT @?-?Copyright (C) 1993 Publications International, Ltd. How Drugs Work, part I _________________________ Prescription drugs fall into a number of groups according to the conditions for which they are prescribed. In the following pages, we will provide you with a better understanding of the types of medications that are prescribed for different medical conditions. We'll describe the intended actions of drugs and the therapeutic effects you can expect from various types of medications. CARDIOVASCULAR DRUGS Antianginals Since the heart is a muscle that must work continuously, it requires a constant supply of nutrients and oxygen. The chest pain known as angina can occur when there is an insufficient supply of blood, and consequently of oxygen, to the heart. There are several types of antianginal drugs. These drugs include vasodilators (nitroglycerin, isosorbide dinitrate), calcium channel blockers (diltiazem, nifedipine, verapamil), and beta blockers (acebutolol, atenolol, labetalol, metoprolol, nadolol, pindolol, propranolol, timolol). All of these drugs act by increasing the amount of oxygen that reaches the heart muscle. Antiarrhythmics If the heart does not beat rhythmically or smoothly (a condition called arrhythmia), its rate of contraction must be regulated. Antiarrhythmic drugs (disopyramide, mexiletine, procainamide, propranolol, tocainide, quinidine) prevent or alleviate cardiac arrhythmias by altering nerve impulses within the heart. Antihypertensives Briefly, high blood pressure is a condition in which the pressure of the blood against the walls of the blood vessels is higher than what is considered normal. High blood pressure, or hypertension, which can eventually cause damage to the brain, eyes, heart, or kidneys, is controllable. If a medication for high blood pressure has been prescribed, it is very important that you continue to take it regularly, even if you don't notice any symptoms of hypertension. If hypertension is controlled, other damage can be prevented. Drugs that counteract or reduce high blood pressure can prolong a hypertensive patient's life. Several different drug actions produce an antihypertensive effect. Some drugs block nerve impulses that cause arteries to constrict; others slow the heart rate and decrease its force of contraction; still others reduce the amount of a certain hormone (aldosterone) in the blood that causes blood pressure to rise. The effect of any of these is to reduce blood pressure. The mainstay of antihypertensive therapy is often a diuretic, a drug that reduces body fluids. Examples of additional antihypertensive drugs include clonidine, hydralazine, methyldopa, prazosin, and reserpine. Diuretics Diuretic drugs, such as chlorothiazide, chlorthalidone, furosemide, hydrochlorothiazide, and spironolactone, promote the loss of water and salt from the body (this is why they are sometimes called "water pills"). This loss of water and salt results in lowering of blood pressure. They also lower blood pressure by increasing the diameter of blood vessels. Because many antihypertensive drugs cause the body to retain salt and water, they are often used concurrently with diuretics. Most diuretics act directly on the kidneys, but there are different types of diuretics, each with different actions. Thus, therapy for high blood pressure can be individualized for each patient's needs. Thiazide diuretics, such as chlorothiazide, chlorthalidone, and hydrochlorothiazide are the most commonly prescribed water pills available today. They are generally well tolerated and can be taken once or twice a day. Since patients do not develop a tolerance to their antihypertensive effect, they can be taken for prolonged periods. However, a major drawback to thiazide diuretics is that they often deplete the body of potassium. This depletion can be compensated for with a potassium supplement. Potassium-rich foods and liquids, such as bananas, apricots, and orange juice, can also be used to help correct the potassium deficiency. Salt substitutes are another source of potassium. Your doctor will direct you as to which source of potassium, if any, is appropriate for you to use. Loop diuretics, such as furosemide, act more vigorously than thiazide diuretics. (The term "loop" refers to the structures in the kidneys on which these medications act.) Loop diuretics promote more water loss but also deplete more potassium. To remove excess water from the body but retain its store of potassium, manufacturers developed potassium-sparing diuretics. Drugs such as spironolactone, triamterene, and amiloride are effective in treating potassium loss, heart failure, and hypertension. Potassium-sparing diuretics are combined with thiazide diuretics in medications such as spironolactone and hydrochlorothiazide combination, triamterene and hydrochlorothiazide combination, and amiloride and hydrochlorothiazide combination. Such combinations enhance the antihypertensive effect and reduce the loss of potassium. They are now among the most commonly used antihypertensive agents. Cardiac Glycosides Cardiac glycosides include drugs that are derived from digitalis (for example, digoxin and digitoxin). This type of drug slows the rate of the heart but increases its force of contraction. Cardiac glycosides, therefore, act as both heart depressants and stimulants and may be used to regulate irregular heart rhythm or to increase the volume of blood pumped by the heart in heart failure. Anticoagulants Drugs that prevent blood clotting are called anticoagulants (blood thinners). Anticoagulants fall into two categories. The first category contains only one drug, heparin. Heparin must be given by injection, so its use is generally restricted to hospitalized patients. The second category includes oral anticoagulants, principally derivatives of the drug warfarin. Warfarin may be used in the treatment of conditions such as stroke, heart disease, and abnormal blood clotting. It is also used to prevent the movement of a clot, which could cause serious problems. It acts by preventing the liver from manufacturing the proteins responsible for blood clot formation. Persons taking warfarin must avoid using many other drugs (including aspirin), because their interaction with the anticoagulant could cause internal bleeding. Patients taking warfarin should check with their pharmacist or physician before using any other medications, including over-the-counter products for coughs or colds. In addition, they must have their blood checked frequently by their physician to ensure that the drug is maintaining the correct degree of blood thinning. Antihyperlipidemics Drugs used to treat atherosclerosis (arteriosclerosis, or hardening of the arteries) act to reduce the serum (the liquified portion of blood) levels of cholesterol and triglycerides (fats), which form plaques (deposits) on the walls of arteries. Some antihyperlipidemics, such as cholestyramine and colestipol, bind to bile acids in the gastrointestinal tract, thereby decreasing the body's production of cholesterol. Clofibrate and probucol also decrease the body's production of cholesterol. Use of such drugs is generally recommended only after diet and lifestyle changes have failed to lower blood lipids to desirable levels. Even then, diet therapy should be continued. Vasodilators Vasodilating drugs cause the blood vessels to dilate (widen). Some of the antihypertensive agents, such as hydralazine and prazosin, lower blood pressure by dilating the arteries or veins. Other vasodilators are used in the treatment of stroke and diseases characterized by poor circulation. Ergoloid mesylates, for example, are used to reduce the symptoms of senility by increasing blood flow to the brain. Beta Blockers Beta-blocking drugs block the response of the heart and blood vessels to nerve stimulation, thereby slowing the heart rate and reducing high blood pressure. They are used in the treatment of a wide range of diseases including angina, hypertension, migraine headaches, and arrhythmias. Propranolol and metoprolol are two examples of beta blockers. Calcium Channel Blockers Calcium channel blockers (diltiazem, nifedipine, verapamil) are used for the prevention of angina (chest pain). Verapamil is also useful in correcting certain arrhythmias (heartbeat irregularities) and lowering blood pressure. This group of drugs is thought to prevent angina and arrhythmias by blocking or slowing calcium flow into muscle cells, which results in vasodilation (widening of the blood vessels) and greater oxygen delivery to the heart muscle. DRUGS FOR THE EARS For an ear infection, a physician usually prescribes an antibiotic and a steroid, or a medication that contains a combination of these. The antibiotic attacks the infecting bacteria, and the steroid reduces the inflammation and pain. Often, a local anesthetic, such as benzocaine or lidocaine, may also be prescribed to relieve pain. DRUGS FOR THE EYES Almost all drugs that are used to treat eye problems can be used to treat disorders of other parts of the body as well. Glaucoma is one of the major disorders of the eye, especially in people over 40 years of age, and results in increased pressure within the eyeball. Although glaucoma is sometimes treated surgically, pressure in the eye can usually be reduced, and blindness prevented, through use of eye drops. Two drugs frequently prescribed as eye drops are epinephrine and pilocarpine. Pilocarpine is a cholinergic drug. Cholinergic drugs act by stimulating parasympathetic nerve endings. Stimulation of these nerve endings alters the activity of many organs throughout the body. For example, a cholinergic drug can cause the heart rate to decrease, intestinal activity to increase, and the bronchioles within the lungs to constrict. When used in the eyes, pilocarpine causes constriction of the pupils and increases the flow of aqueous humor (fluid) out of the eye, thereby reducing the pressure. Epinephrine is a newer name for the body chemical called adrenaline. Epinephrine is secreted in the body when one must flee from danger, resist attack, or combat stress. Epinephrine has adrenergic properties, such as increasing the amount of sugar in the blood, accelerating the heartbeat, and dilating the pupils. The mechanism by which epinephrine lowers pressure within the eye is not completely understood, but it appears to involve both a decrease in the production of aqueous humor and an increase in the outflow of this fluid from the eye. Antibiotics are used to treat bacterial eye infections. Steroids can also be used to treat noninfectious eye inflammations, as long as these medications are not used for too long a period of time. Pharmacists carefully monitor requests for eye drop refills, particularly for drops that contain steroids, and may refuse to refill such medication until you have revisited your doctor because these products can cause further eye problems with long-term use. GASTROINTESTINAL DRUGS Antinauseants Antinauseants reduce the urge to vomit. One of the most effective antinauseants is the phenothiazine derivative prochlorperazine. This medication acts on the vomiting center in the brain. It is often administered rectally and usually alleviates nausea and vomiting within a few minutes to an hour. Antihistamines are also commonly used to prevent nausea and vomiting, especially when those symptoms are due to motion sickness. This type of medication may also work at the vomiting center in the brain. Anticholinergics Anticholinergic drugs--for example, dicyclomine--slow the action of the bowel and reduce the amount of stomach acid. Because these drugs slow the action of the bowel by relaxing the muscles and relieving spasms, they are said to have an antispasmodic action. Antiulcer Medications Antiulcer medications are prescribed to relieve symptoms and promote healing of peptic ulcers. The antisecretory ulcer medications cimetidine, famotidine, and ranitidine work by suppressing the production of excess stomach acid. Another antiulcer drug, sucralfate, works by forming a chemical barrier over an exposed ulcer (like a bandage) thereby protecting the ulcer from stomach acid. These drugs provide sustained relief from ulcer pain and promote healing. Antidiarrheals Diarrhea may be caused by many conditions, including influenza and ulcerative colitis, and can sometimes occur as a side effect of drug therapy. Narcotics and anticholinergics slow the action of the bowel and can thereby help alleviate diarrhea. A medication such as diphenoxylate and atropine contains both a narcotic and an anticholinergic. HORMONES A hormone is a substance produced and secreted by a gland. Hormones stimulate and regulate body functions. Hormone drugs are given to mimic the effects of naturally produced hormones. Hormone drugs are prescribed to treat various conditions. Most often, they are used to replace naturally occuring hormones that are not being produced in amounts sufficient to regulate specific body functions. This category of medication also includes oral contraceptives and certain types of drugs that are used to combat inflammatory reactions. Thyroid Drugs Thyroid hormone was one of the first hormone drugs to be produced synthetically. Originally, thyroid preparations were made by drying and pulverizing the thyroid glands of animals and then forming them into tablets. Such preparations are still used today in the treatment of patients who have reduced levels of thyroid hormone production. However, a synthetic thyroid hormone (levothyroxine) is also available. Antidiabetic Drugs Insulin, which is secreted by the pancreas, regulates the level of glucose (a form of sugar) in the blood, as well as the metabolism of carbohydrates and fats. Insulin's counterpart, glucagon, stimulates the liver to release stored glucose. Both insulin and glucagon must be present in the right amounts to maintain the proper blood sugar levels. Treatment of diabetes mellitus (the condition in which the body is unable to produce and/or utilize insulin) may involve an adjustment of diet and/or the administration of insulin or oral antidiabetic drugs. Glucagon is given only in emergencies (for example, insulin shock, when blood sugar levels must be raised quickly). Oral antidiabetic medications induce the pancreas to secrete more insulin by acting on small groups of cells within the pancreas that make and store insulin. Oral antidiabetic medications are prescribed for diabetic patients who are unable to regulate their blood sugar levels through diet modification alone. These medications cannot be used by patients who have insulin-dependent (juvenile-onset, or Type I) diabetes; their blood sugar levels can be controlled only with injections of insulin. Steroids The pituitary gland secretes adrenocorticotropic hormone (ACTH), which directs the adrenal glands to produce adrenocorticosteroids (for example, cortisone). Oral steroid preparations (for example, prednisone) may be used to treat inflammatory diseases such as arthritis or to treat poison ivy, hay fever, or insect bites. How these drugs relieve inflammation is currently unknown. Steroids may also be applied to the skin to treat certain inflammatory skin conditions. Triamcinolone and the combination of fluocinonide, hydrocortisone, and iodochlorhydroxyquin are examples of steroid hormone creams or ointments. _______________ The material contained here is "FOR INFORMATION ONLY" and should not replace the counsel and advice of your personal physician. Promptly consulting your doctor is the best path to a quick and successful resolution of any medical problem.. The New Prescription Drug Reference Guide - How D...s Work, part Iactio@ r@pagetitle How Drugs Work, part I 02991.TXT